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Cellular Component
Molecular Function

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![]() Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | snRNA transcription | | TAS | | 2290271 | (PMID:7715707) | PINC | PMID:7715707 | snRNA transcription by RNA polymerase II | | TAS | | 2290271 | | Reactome | Reactome:R-HSA-6807505 | transcription by RNA polymerase II | | TAS | | 2290271 | (PMID:7715707) | PINC | PMID:7715707 | transcription by RNA polymerase III | | TAS | | 2290271 | (PMID:7715707) | PINC | PMID:7715707 | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | RGD automated import pipeline for gene-chemical interactions |
3. | Vannini A Biochim Biophys Acta. 2013 Mar-Apr;1829(3-4):258-64. doi: 10.1016/j.bbagrm.2012.09.009. Epub 2012 Sep 29. |
PubMed | 900378 7715707 8524284 8816454 9003788 11056176 11094070 12477932 12621023 15164053 15489334 16901896 17474147 25416956 26186194 26673895 28514442 |
SNAPC3 (Homo sapiens - human) |
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Snapc3 (Mus musculus - house mouse) |
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Snapc3 (Rattus norvegicus - Norway rat) |
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Snapc3 (Chinchilla lanigera - long-tailed chinchilla) |
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SNAPC3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SNAPC3 (Canis lupus familiaris - dog) |
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Snapc3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SNAPC3 (Sus scrofa - pig) |
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STS-H39845 |
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RH80849 |
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RH92362 |
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D9S1059E |
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D9S1630 |
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G30507 |
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RH78643 |
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The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RefSeq Transcripts | NM_001039697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001369647 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001369648 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001369649 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001369650 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001369651 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161434 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161435 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161436 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161437 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161438 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161439 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161441 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161442 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161444 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161446 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161447 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161448 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161449 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_161450 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017015056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK293310 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AL359998 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL441925 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC014985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC036031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC108743 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC121011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC121012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U66413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U71300 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001039697 ⟹ NP_001034786 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
CGCTCGCCGGCCGGGCGCCCCAAGCAACTACAACTTCCATCACGCTCTGCGAGGCCTTGATCTGhide sequence |
RefSeq Acc Id: | NM_001369647 ⟹ NP_001356576 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | CODING | |||||||||
Position: |
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RefSeq Acc Id: | NM_001369648 ⟹ NP_001356577 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | CODING | |||||||||
Position: |
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RefSeq Acc Id: | NM_001369649 ⟹ NP_001356578 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | CODING | |||||||||
Position: |
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RefSeq Acc Id: | NM_001369650 ⟹ NP_001356579 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | CODING | |||||||||
Position: |
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RefSeq Acc Id: | NM_001369651 ⟹ NP_001356580 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161433 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161434 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161435 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161436 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161437 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161438 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161439 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161440 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161441 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161442 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161443 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161444 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161445 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161446 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161447 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161448 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161449 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | NR_161450 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | XM_017015056 ⟹ XP_016870545 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
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Sequence: |
AACTACAACTTCCATCACGCTCTGCGAGGCCTTGATCTGCAGGCTTTTGCAGGGGAAGGAGTGGhide sequence |
Protein RefSeqs | NP_001034786 | (Get FASTA) | NCBI Sequence Viewer |
NP_001356576 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001356577 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001356578 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001356579 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001356580 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016870545 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC50948 | (Get FASTA) | NCBI Sequence Viewer |
AAD09214 | (Get FASTA) | NCBI Sequence Viewer | |
AAH14985 | (Get FASTA) | NCBI Sequence Viewer | |
AAI08744 | (Get FASTA) | NCBI Sequence Viewer | |
AAI21012 | (Get FASTA) | NCBI Sequence Viewer | |
AAI21013 | (Get FASTA) | NCBI Sequence Viewer | |
BAG56830 | (Get FASTA) | NCBI Sequence Viewer | |
EAW58680 | (Get FASTA) | NCBI Sequence Viewer | |
EAW58681 | (Get FASTA) | NCBI Sequence Viewer | |
EAW58682 | (Get FASTA) | NCBI Sequence Viewer | |
Q92966 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001034786 ⟸ NM_001039697 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q92966 (UniProtKB/Swiss-Prot) |
- Sequence: |
MAEGSRGGPTCSGVGGRQDPVSGSGGCNFPEYELPELNTRAFHVGAFGELWRGRLRGAGDLSLRhide sequence |
RefSeq Acc Id: | XP_016870545 ⟸ XM_017015056 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q92966 (UniProtKB/Swiss-Prot) |
- Sequence: |
MAEGSRGGPTCSGVGGRQDPVSGSGGCNFPEYELPELNTRAFHVGAFGELWRGRLRGAGDLSLRhide sequence |
RefSeq Acc Id: | NP_001356577 ⟸ NM_001369648 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | NP_001356580 ⟸ NM_001369651 |
- Peptide Label: | isoform 6 |
RefSeq Acc Id: | NP_001356576 ⟸ NM_001369647 |
- Peptide Label: | isoform 2 |
RefSeq Acc Id: | NP_001356579 ⟸ NM_001369650 |
- Peptide Label: | isoform 5 |
RefSeq Acc Id: | NP_001356578 ⟸ NM_001369649 |
- Peptide Label: | isoform 4 |
RGD ID: | 6808247 | |||||||||
Promoter ID: | HG_KWN:62685 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
Transcripts: | ENST00000380807, OTTHUMT00000051762, OTTHUMT00000051763, OTTHUMT00000051764, OTTHUMT00000051765, OTTHUMT00000051767 | |||||||||
Position: |
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RGD ID: | 7214713 | |||||||||
Promoter ID: | EPDNEW_H13102 | |||||||||
Type: | initiation region | |||||||||
Name: | SNAPC3_2 | |||||||||
Description: | small nuclear RNA activating complex polypeptide 3 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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RGD ID: | 7214715 | |||||||||
Promoter ID: | EPDNEW_H13103 | |||||||||
Type: | initiation region | |||||||||
Name: | SNAPC3_1 | |||||||||
Description: | small nuclear RNA activating complex polypeptide 3 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050357]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050357]|See cases [RCV000050357] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1 | copy number loss | Abnormality of the nervous system [RCV000050580]|See cases [RCV000050580] | Chr9:9661633..18034356 [GRCh38] Chr9:9661633..18034354 [GRCh37] Chr9:9651633..18024354 [NCBI36] Chr9:9p23-22.2 |
pathogenic |
GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1 | copy number loss | Abnormality of the skeletal system [RCV000051021]|See cases [RCV000051021] | Chr9:11086096..17636671 [GRCh38] Chr9:11086096..17636669 [GRCh37] Chr9:11076096..17626669 [NCBI36] Chr9:9p23-22.2 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051106]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051106]|See cases [RCV000051106] | Chr9:204193..38741440 [GRCh38] Chr9:204193..38741437 [GRCh37] Chr9:194193..38731437 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052899]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052899]|See cases [RCV000052899] | Chr9:11818291..17963882 [GRCh38] Chr9:11818291..17963880 [GRCh37] Chr9:11808291..17953880 [NCBI36] Chr9:9p23-22.2 |
pathogenic |
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 | copy number loss | Seizure [RCV000052860]|See cases [RCV000052860] | Chr9:220253..18073359 [GRCh38] Chr9:220253..18073357 [GRCh37] Chr9:210253..18063357 [NCBI36] Chr9:9p24.3-22.2 |
pathogenic |
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052863]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052863]|See cases [RCV000052863] | Chr9:1242978..18957216 [GRCh38] Chr9:1242978..18957214 [GRCh37] Chr9:1232978..18947214 [NCBI36] Chr9:9p24.3-22.1 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|See cases [RCV000053703] | Chr9:203993..38815619 [GRCh38] Chr9:203993..38815616 [GRCh37] Chr9:193993..38805616 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 | copy number gain | Esophageal atresia [RCV000053704]|See cases [RCV000053704] | Chr9:204193..22086858 [GRCh38] Chr9:204193..22086857 [GRCh37] Chr9:194193..22076857 [NCBI36] Chr9:9p24.3-21.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] | Chr9:204193..34599437 [GRCh38] Chr9:204193..34599435 [GRCh37] Chr9:194193..34589435 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 | copy number gain | Global developmental delay [RCV000053707]|See cases [RCV000053707] | Chr9:204193..33284638 [GRCh38] Chr9:204193..33284636 [GRCh37] Chr9:194193..33274636 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053747]|See cases [RCV000053747] | Chr9:220253..38815419 [GRCh38] Chr9:220253..38815416 [GRCh37] Chr9:210253..38805416 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3 | copy number gain | Global developmental delay [RCV000053749]|See cases [RCV000053749] | Chr9:9543538..30266463 [GRCh38] Chr9:9543538..30266461 [GRCh37] Chr9:9533538..30256461 [NCBI36] Chr9:9p23-21.1 |
pathogenic |
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] | Chr9:13526091..34261642 [GRCh38] Chr9:13526090..34261640 [GRCh37] Chr9:13516090..34251640 [NCBI36] Chr9:9p23-13.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 | copy number loss | See cases [RCV000133825] | Chr9:204193..18073359 [GRCh38] Chr9:204193..18073357 [GRCh37] Chr9:194193..18063357 [NCBI36] Chr9:9p24.3-22.2 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 | copy number gain | See cases [RCV000134037] | Chr9:220257..29424848 [GRCh38] Chr9:220257..29424846 [GRCh37] Chr9:210257..29414846 [NCBI36] Chr9:9p24.3-21.1 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 | copy number gain | See cases [RCV000135344] | Chr9:13997..68401065 [GRCh38] Chr9:13997..71015981 [GRCh37] Chr9:3997..70205801 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 | copy number loss | See cases [RCV000135660] | Chr9:220253..18708805 [GRCh38] Chr9:220253..18708803 [GRCh37] Chr9:210253..18698803 [NCBI36] Chr9:9p24.3-22.1 |
pathogenic |
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 | copy number loss | See cases [RCV000135694] | Chr9:204104..18882281 [GRCh38] Chr9:204104..18882279 [GRCh37] Chr9:194104..18872279 [NCBI36] Chr9:9p24.3-22.1 |
pathogenic |
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 | copy number gain | See cases [RCV000136152] | Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12 |
pathogenic |
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 | copy number loss | See cases [RCV000135968] | Chr9:204193..16897580 [GRCh38] Chr9:204193..16897578 [GRCh37] Chr9:194193..16887578 [NCBI36] Chr9:9p24.3-22.2 |
pathogenic |
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 | copy number gain | See cases [RCV000135954] | Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13 |
pathogenic |
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 | copy number loss | See cases [RCV000136859] | Chr9:214367..16307944 [GRCh38] Chr9:214367..16307942 [GRCh37] Chr9:204367..16297942 [NCBI36] Chr9:9p24.3-22.3 |
pathogenic |
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 | copy number gain | See cases [RCV000136680] | Chr9:4661872..27661572 [GRCh38] Chr9:4661872..27661570 [GRCh37] Chr9:4651872..27651570 [NCBI36] Chr9:9p24.1-21.2 |
pathogenic |
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 | copy number gain | See cases [RCV000137741] | Chr9:7162304..37038771 [GRCh38] Chr9:7162304..37038768 [GRCh37] Chr9:7152304..37028768 [NCBI36] Chr9:9p24.1-13.2 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 | copy number gain | See cases [RCV000137888] | Chr9:204104..66233120 [GRCh38] Chr9:204104..47212321 [GRCh37] Chr9:194104..47002141 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 | copy number gain | See cases [RCV000138499] | Chr9:459131..24207894 [GRCh38] Chr9:459131..24207892 [GRCh37] Chr9:449131..24197892 [NCBI36] Chr9:9p24.3-21.3 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 | copy number gain | See cases [RCV000139208] | Chr9:204104..67549861 [GRCh38] Chr9:204104..66516698 [GRCh37] Chr9:194104..66256518 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 | copy number gain | See cases [RCV000139015] | Chr9:204104..34151476 [GRCh38] Chr9:204104..34151474 [GRCh37] Chr9:194104..34141474 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic|likely benign |
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 | copy number gain | See cases [RCV000139126] | Chr9:204104..38768294 [GRCh38] Chr9:204104..38768291 [GRCh37] Chr9:194104..38758291 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 | copy number gain | See cases [RCV000139621] | Chr9:204104..27963369 [GRCh38] Chr9:204104..27963367 [GRCh37] Chr9:194104..27953367 [NCBI36] Chr9:9p24.3-21.2 |
pathogenic |
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | copy number gain | See cases [RCV000141904] | Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 | copy number gain | See cases [RCV000141662] | Chr9:203861..31423873 [GRCh38] Chr9:203861..31423871 [GRCh37] Chr9:193861..31413871 [NCBI36] Chr9:9p24.3-21.1 |
pathogenic |
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 | copy number loss | See cases [RCV000141442] | Chr9:322690..16401656 [GRCh38] Chr9:322690..16401654 [GRCh37] Chr9:312690..16391654 [NCBI36] Chr9:9p24.3-22.3 |
pathogenic |
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 | copy number gain | See cases [RCV000143012] | Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) | copy number gain | See cases [RCV000143411] | Chr9:203861..38381642 [GRCh38] Chr9:203861..38381639 [GRCh37] Chr9:193861..38371639 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | See cases [RCV000148159] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 | copy number gain | See cases [RCV000240201] | Chr9:163131..38763958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 | copy number gain | See cases [RCV000240048] | Chr9:213161..47212321 [GRCh37] Chr9:9p24.3-11.2 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 | copy number gain | See cases [RCV000239869] | Chr9:213161..39092820 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 | copy number gain | See cases [RCV000240225] | Chr9:213161..19450250 [GRCh37] Chr9:9p24.3-22.1 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 | copy number gain | See cases [RCV000449165] | Chr9:203861..68188391 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) | copy number gain | See cases [RCV000447246] | Chr9:32396..39140211 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | See cases [RCV000446521] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 | copy number loss | See cases [RCV000447415] | Chr9:203861..16925108 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 | copy number loss | See cases [RCV000446566] | Chr9:203861..16670878 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 | copy number loss | See cases [RCV000445963] | Chr9:203861..16856907 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
GRCh37/hg19 9p23-22.2(chr9:13739630-18023839)x1 | copy number loss | Oxycephaly [RCV000681563] | Chr9:13739630..18023839 [GRCh37] Chr9:9p23-22.2 |
pathogenic |
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 | copy number loss | See cases [RCV000445998] | Chr9:213161..17496750 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 | copy number gain | See cases [RCV000448242] | Chr9:13997..70919878 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 | copy number gain | See cases [RCV000448569] | Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 | copy number loss | See cases [RCV000512122] | Chr9:203861..17125893 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 | copy number gain | See cases [RCV000510425] | Chr9:5900425..30008330 [GRCh37] Chr9:9p24.1-21.1 |
pathogenic |
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 | copy number loss | See cases [RCV000510944] | Chr9:203861..17655298 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | See cases [RCV000510864] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1 | copy number loss | PARP Inhibitor response [RCV000626433] | Chr9:10320113..26205565 [GRCh37] Chr9:9p23-21.2 |
drug response |
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 | copy number gain | Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] | Chr9:204193..44259464 [GRCh37] Chr9:9p24.3-11.2 |
likely pathogenic |
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 | copy number gain | See cases [RCV000512431] | Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p23-22.2(chr9:14178768-16619009)x1 | copy number loss | Intellectual disability [RCV000681561] | Chr9:14178768..16619009 [GRCh37] Chr9:9p23-22.2 |
pathogenic |
GRCh37/hg19 9p23-22.2(chr9:13563537-18491752)x1 | copy number loss | Turricephaly [RCV000681562] | Chr9:13563537..18491752 [GRCh37] Chr9:9p23-22.2 |
pathogenic |
GRCh37/hg19 9p22.3(chr9:14879869-15543074)x3 | copy number gain | not provided [RCV000683138] | Chr9:14879869..15543074 [GRCh37] Chr9:9p22.3 |
uncertain significance |
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 | copy number gain | not provided [RCV000683170] | Chr9:203861..20653468 [GRCh37] Chr9:9p24.3-21.3 |
pathogenic |
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 | copy number gain | not provided [RCV000683171] | Chr9:203861..26397133 [GRCh37] Chr9:9p24.3-21.2 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 | copy number gain | not provided [RCV000683175] | Chr9:203861..70985795 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | not provided [RCV000683172] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 | copy number gain | not provided [RCV000683174] | Chr9:203861..68262804 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | not provided [RCV000683173] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 | copy number gain | not provided [RCV000683176] | Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12 |
pathogenic |
GRCh37/hg19 9p22.3(chr9:15393381-15657180)x3 | copy number gain | not provided [RCV000748253] | Chr9:15393381..15657180 [GRCh37] Chr9:9p22.3 |
benign |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 | copy number gain | not provided [RCV000748062] | Chr9:46587..22012051 [GRCh37] Chr9:9p24.3-21.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 | copy number gain | not provided [RCV000748122] | Chr9:4420767..22195820 [GRCh37] Chr9:9p24.2-21.3 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 | copy number gain | not provided [RCV000848175] | Chr9:203861..38472979 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) | copy number gain | not provided [RCV000767644] | Chr9:214309..39156958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 | copy number gain | not provided [RCV000845664] | Chr9:203861..19448473 [GRCh37] Chr9:9p24.3-22.1 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 | copy number gain | not provided [RCV000845815] | Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:11136 | AgrOrtholog |
COSMIC | SNAPC3 | COSMIC |
Ensembl Genes | ENSG00000164975 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000370177 | UniProtKB/TrEMBL |
ENSP00000370200 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000391832 | UniProtKB/TrEMBL | |
ENSP00000432393 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000436699 | UniProtKB/Swiss-Prot | |
ENSP00000483273 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000380799 | UniProtKB/TrEMBL |
ENST00000380821 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000421710 | UniProtKB/TrEMBL | |
ENST00000467062 | UniProtKB/Swiss-Prot | |
ENST00000490969 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000610884 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000164975 | GTEx |
HGNC ID | HGNC:11136 | ENTREZGENE |
Human Proteome Map | SNAPC3 | Human Proteome Map |
InterPro | snRNA-activating_su3 | UniProtKB/Swiss-Prot |
KEGG Report | hsa:6619 | UniProtKB/Swiss-Prot |
NCBI Gene | 6619 | ENTREZGENE |
OMIM | 602348 | OMIM |
PANTHER | PTHR13421 | UniProtKB/Swiss-Prot |
Pfam | zf-SNAP50_C | UniProtKB/Swiss-Prot |
PharmGKB | PA35984 | PharmGKB |
UniGene | Hs.546299 | ENTREZGENE |
UniProt | Q5T282_HUMAN | UniProtKB/TrEMBL |
Q5T284_HUMAN | UniProtKB/TrEMBL | |
Q92966 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | D3DRI8 | UniProtKB/Swiss-Prot |
Q2VPI6 | UniProtKB/Swiss-Prot | |
Q5T285 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-11-17 | SNAPC3 | small nuclear RNA activating complex polypeptide 3 | small nuclear RNA activating complex, polypeptide 3, 50kDa | Symbol and/or name change | 5135510 | APPROVED |
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More on SNAPC3 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1313043 |
Created: | 2005-01-12 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.