" /> CYP3A5*6 Allele - CISMeF





Preferred Label : CYP3A5*6 Allele;

NCIt synonyms : Cytochrome P450, Family 3, Subfamily A, Polypeptide 5*6 Allele; CYP3A5, g.14690G A; CYP3A5*6; CYP3A5 6 Allele;

NCIt definition : Human CYP3A5*6 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*6 protein. The CYP3A5*6 allele exhibits a clinically-relevant SNP (g.14690G A), resulting in deletion of exon 7 from the splice variant, a frame shift and premature stop at 184 amino acids. Truncation of the cytochrome P450 3A5*6 protein causes complete loss of enzymatic activity.;

NCIt note : Ethnicity Association: African American;

GenBank Accession Number : NM_000777;

PubMed : 11279519;

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27/04/2024


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