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Gene: COL6A3 (collagen type VI alpha 3 chain) Homo sapiens
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Symbol: COL6A3
Name: collagen type VI alpha 3 chain
Description: Predicted to have extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in growth plate cartilage chondrocyte morphogenesis. Localizes to the extracellular matrix. Implicated in Ullrich congenital muscular dystrophy; dystonia 27; and muscular dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BTHLM1; collagen alpha-3(VI) chain; collagen type VI alpha 3; collagen VI, alpha-3 polypeptide; collagen, type VI, alpha 3; DKFZp686D23123; DKFZp686K04147; DKFZp686N0262; DYT27; FLJ34702; FLJ98399; UCMD1
Orthologs:
Mus musculus (house mouse) : Col6a3 (collagen, type VI, alpha 3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col6a3 (collagen type VI alpha 3 chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Col6a3 (collagen type VI alpha 3 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL6A3 (collagen type VI alpha 3 chain)
Canis lupus familiaris (dog) : COL6A3 (collagen type VI alpha 3 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col6a3 (collagen type VI alpha 3 chain)
Sus scrofa (pig) : COL6A3 (collagen type VI alpha 3 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl2237,324,003 - 237,414,375 (-)Ensembl
GRCh382237,324,012 - 237,434,822 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372238,232,655 - 238,322,850 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362237,897,401 - 237,987,559 (-)NCBINCBI36hg18NCBI36
Build 342238,014,661 - 238,104,820NCBI
Celera2231,946,425 - 232,036,576 (-)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2230,024,688 - 230,114,910 (-)NCBIHuRef
CHM1_12238,238,749 - 238,328,955 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences