Gene Symbol Report 
COL7A1
| Approved Symbol |
COL7A1 |
|---|---|
| Approved Name |
collagen, type VII, alpha 1 |
| HGNC ID |
HGNC:2214 |
| Previous Symbols & Names |
EBD1, EBDCT, EBR1, "epidermolysis bullosa, dystrophic, dominant and recessive" |
| Synonyms |
"collagen VII, alpha-1 polypeptide", "LC collagen" |
| Locus Type |
gene with protein product |
| Chromosomal Location |
3p21.1 |
| GENE FAMILY |
Collagens Fibronectin type III domain containing |
|
|---|---|---|
| SPECIALIST DATABASE |
MEROPS D |
|
| HOMOLOGS |
MGI:88462 C Mouse Symbol: Col7a1 RGD:1311417 D Rat Symbol: Col7a1 HCOP D TreeFam D |
|
| NUCLEOTIDE SEQUENCES |
GenBank:L02870 EMBL-Bank DDBJ C RefSeq:NM_000094 C CCDS:CCDS2773.1 C Vega:OTTHUMG00000133541 C |
|
| GENE RESOURCES |
Entrez Gene:1294 C Ensembl:ENSG00000114270 C UCSC:uc003ctz.2 D Vega:OTTHUMG00000133541 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:Q02388 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D LRG:LRG_286 C Genetic Testing Registry C |
|
| REFERENCES |
PubMed Europe PMC C |
|
| OTHER DATABASE LINKS |
GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
