Gene Detail

Gene Symbol COL1A1
Synonyms EDSARTH1 | EDSC | OI1 | OI2 | OI3 | OI4
Gene Description COL1A1, collagen 1 alpha 1, is a member of the fibrillary type collagens that maintain tissue structural integrity (PMID: 23145505). COL1A1 fusions are observed with PDGFB in sarcoma (PMID: 10446987).
Entrez Id 1277
Chromosome 17
Map Location 17q21.33
Canonical Transcript NM_000088

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