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Gene : COL10A1 Homo sapiens

Name  ? collagen type X alpha 1 chain Cytological Location  6q22.1
Brief Description  collagen type X alpha 1 chain
Description  This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]
  • synonyms:
  • HGNC:2185,
  • uc003pwm.4,
  • NM_000493,
  • collagen, type X, alpha 1,
  • Schmid metaphyseal chondrodysplasia,
  • OTTHUMG00000015426,
  • COL10A1
  • identifiers:
  • 1300,
  • ENSG00000123500,
  • COL10A1

Genome feature

Region: gene ? Length: 101029  
Location: 6:116118909-116219937 reverse strand Cyto location: 6q22.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 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

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

Gene Ontology

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Other

223 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results