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Gene : COL8A1 Homo sapiens

Name  ? collagen type VIII alpha 1 chain Cytological Location  3q12.1
Brief Description  collagen type VIII alpha 1 chain
Description  This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]
  • synonyms:
  • NM_001850,
  • COL8A1,
  • C3orf7,
  • uc003dtg.3,
  • AF170702,
  • MGC9568,
  • HGNC:2215,
  • C3orf7,
  • collagen, type VIII, alpha 1,
  • chromosome 3 open reading frame 7,
  • OTTHUMG00000148669
  • identifiers:
  • 1295,
  • ENSG00000144810,
  • COL8A1

Genome feature

Region: gene ? Length: 160624  
Location: 3:99638594-99799217 Cyto location: 3q12.1

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Proteins.


Gene Report --> GWAS hit


0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3740 SNPs

5 Cross References

17 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results