" /> CYP2C9*2 Allele - CISMeF





Preferred Label : CYP2C9*2 Allele;

NCIt synonyms : CYP2C9*2; CYP2C9, R144C; Cytochrome P450, Family 2, Subfamily C, Polypeptide 9*2 Allele; CYP2C9, c.430C T; CYP2C9 2 Allele;

NCIt definition : Human CYP2C9*2 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*2 protein. The CYP2C9*2 allele exhibits a clinically-relevant SNP (c.430C T) in exon 3 that results in a R144C coding change. This alteration in protein sequence decreases the enzymatic activity of the cytochrome P450 2C9*2 protein.;

NCIt note : Ethnicity Association: African American; Black African; Caucasian;

GenBank Accession Number : NM_000771;

SNP ID : rs1799853;

PubMed : 15100169; 15608560;

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20/05/2024


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