" /> CYP3A5*3 Allele - CISMeF





Preferred Label : CYP3A5*3 Allele;

NCIt synonyms : CYP3A5*3; CYP3A5, g.6986A G; Cytochrome P450, Family 3, Subfamily A, Polypeptide 5*3 Allele; CYP3A5 3 Allele;

NCIt definition : Human CYP3A5*3 allele is located in the vicinity of 7q21.1 and is approximately 32 kb in length. This allele, a variant form of the human CYP3A5 wild-type allele, encodes cytochrome P450 3A5*3 protein. The CYP3A5*3 allele exhibits a clinically-relevant SNP (g.6986A G) in intron 3 that results in a splicing defect and premature stop at 102 amino acids. This alteration severely decreases the enzymatic activity of the cytochrome P450 3A5*3 protein.;

NCIt note : Ethnicity Association: African*; Asian; Caucasian (*samples from African Americans and Black Africans were combined);

GenBank Accession Number : NM_000777;

SNP ID : rs776746;

PubMed : 11279519; 14961555; 12893984;

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28/04/2024


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