| umls-concept:C1707203 | skos:definition | NCI: Human CYP2C9*3 allele is located within 10q24 and is approximately 33 kb in length. This allele, a variant form of the CYP2C9 wild-type allele, encodes cytochrome P450 2C9*3 protein. The CYP2C9*3 allele exhibits a clinically-relevant SNP (c.1075A>C) in exon 7 that results in an I359L coding change. This alteration in protein sequence decreases the enzymatic activity of the cytochrome P450 2C9*3 protein. | lld:umls |
