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Gene: CHRNB1 (cholinergic receptor nicotinic beta 1 subunit) Homo sapiens
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Symbol: CHRNB1
Name: cholinergic receptor nicotinic beta 1 subunit
Description: Exhibits transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential. Contributes to acetylcholine receptor activity. Involved in several processes, including behavioral response to nicotine; chemical synaptic transmission; and muscle fiber development. Localizes to acetylcholine-gated channel complex and neuromuscular junction. Implicated in congenital myasthenic syndrome 2A and congenital myasthenic syndrome 2C.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acetylcholine receptor subunit beta; acetylcholine receptor, nicotinic, beta 1 (muscle); ACHRB; cholinergic receptor, nicotinic beta 1; cholinergic receptor, nicotinic, beta 1 (muscle); cholinergic receptor, nicotinic, beta polypeptide 1 (muscle); CHRNB; CMS1D; CMS2A; CMS2C; FLJ57107; SCCMS
Orthologs:
Mus musculus (house mouse) : Chrnb1 (cholinergic receptor, nicotinic, beta polypeptide 1 (muscle))  MGI  Alliance
Rattus norvegicus (Norway rat) : Chrnb1 (cholinergic receptor nicotinic beta 1 subunit)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Chrnb1 (cholinergic receptor nicotinic beta 1 subunit)
Pan paniscus (bonobo/pygmy chimpanzee) : CHRNB1 (cholinergic receptor nicotinic beta 1 subunit)
Canis lupus familiaris (dog) : CHRNB1 (cholinergic receptor nicotinic beta 1 subunit)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Chrnb1 (cholinergic receptor nicotinic beta 1 subunit)
Sus scrofa (pig) : CHRNB1 (cholinergic receptor nicotinic beta 1 subunit)
Chlorocebus sabaeus (African green monkey) : CHRNB1 (cholinergic receptor nicotinic beta 1 subunit)
Heterocephalus glaber (naked mole-rat) : Chrnb1 (cholinergic receptor nicotinic beta 1 subunit)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl177,445,061 - 7,457,710 (+)EnsemblGRCh38hg38GRCh38
GRCh38177,445,061 - 7,457,710 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,348,406 - 7,360,932 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,289,130 - 7,301,656 (+)NCBINCBI36hg18NCBI36
Build 34177,289,129 - 7,301,656NCBI
Celera177,374,294 - 7,386,883 (+)NCBI
Cytogenetic Map17p13.1NCBI
HuRef177,242,351 - 7,254,625 (+)NCBIHuRef
CHM1_1177,357,504 - 7,370,035 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CHRNB1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 733898
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-08-04
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.