| umls-concept:C1707206 | skos:definition | NCI: Human CYP2C9*8 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*8 protein. The CYP2C9*8 allele exhibits a clinically-relevant SNP (c.449G>A) in exon 3 that results in a R150H coding change. This alteration in protein sequence increases the enzymatic activity of the cytochrome P450 2C9*8 protein. | lld:umls |
