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Gene : COL11A1 Homo sapiens

Name  ? collagen type XI alpha 1 chain Cytological Location  1p21.1
Brief Description  collagen type XI alpha 1 chain
Description  This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
  • synonyms:
  • NM_080630,
  • deafness, autosomal dominant 37,
  • collagen, type XI, alpha 1,
  • STL2,
  • J04177,
  • STL2,
  • OTTHUMG00000010872,
  • DFNA37,
  • COLL6,
  • CO11A1,
  • HGNC:2186,
  • DFNA37,
  • CO11A1,
  • collagen XI, alpha-1 polypeptide,
  • COLL6,
  • uc001dul.4,
  • COL11A1
  • identifiers:
  • 1301,
  • ENSG00000060718,
  • COL11A1

Genome feature

Region: gene ? Length: 232114  
Location: 1:102876467-103108580 reverse strand Cyto location: 1p21.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

5 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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Expression

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Other

3753 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results