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Gene: COL7A1 (collagen type VII alpha 1 chain) Homo sapiens
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Symbol: COL7A1
Name: collagen type VII alpha 1 chain
CRRD ID: 1322869
Description: Exhibits extracellular matrix structural constituent conferring tensile strength. Involved in endodermal cell differentiation. Localizes to collagen-containing extracellular matrix and extracellular space. Implicated in autosomal dominant dystrophic epidermolysis bullosa; epidermolysis bullosa dystrophica; epidermolysis bullosa with congenital localized absence of skin and deformity of nails; nonsyndromic congenital nail disorder 8; and transient bullous dermolysis of the newborn.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: collagen alpha-1(VII) chain; collagen type VII alpha 1; collagen VII, alpha-1 polypeptide; collagen, type VII, alpha 1; EBD1; EBDCT; EBR1; LC collagen; long chain collagen; long-chain collagen; NDNC8
Orthologs:
Mus musculus (house mouse) : Col7a1 (collagen, type VII, alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col7a1 (collagen type VII alpha 1 chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Col7a1 (collagen type VII alpha 1 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL7A1 (collagen type VII alpha 1 chain)
Canis lupus familiaris (dog) : COL7A1 (collagen type VII alpha 1 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col7a1 (collagen type VII alpha 1 chain)
Sus scrofa (pig) : COL7A1 (collagen type VII alpha 1 chain)
Chlorocebus sabaeus (African green monkey) : COL7A1 (collagen type VII alpha 1 chain)
Heterocephalus glaber (naked mole-rat) : Col7a1 (collagen type VII alpha 1 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl348,564,073 - 48,595,267 (-)EnsemblGRCh38hg38GRCh38
GRCh38348,564,073 - 48,595,329 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37348,601,506 - 48,632,593 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36348,576,510 - 48,607,597 (-)NCBINCBI36hg18NCBI36
Build 34348,576,509 - 48,607,689NCBI
Celera348,557,241 - 48,588,335 (-)NCBI
Cytogenetic Map3p21.31NCBI
HuRef348,659,828 - 48,690,843 (-)NCBIHuRef
CHM1_1348,553,813 - 48,584,903 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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