" /> CYP2C19*1 Allele - CISMeF





Preferred Label : CYP2C19*1 Allele;

NCIt synonyms : CYP2C19, c.991A G; CYP2C19*1; CYP2C19, I331V; CYP2C19, wild-type; Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*1 Allele; CYP2C19 1 Allele;

NCIt definition : Human CYP2C19*1 allele is located within 10q24.1-q24.3 and is approximately 90 kb in length. This allele, a variant form of the CYP2C19 wild-type allele, encodes cytochrome P450 2C19*1 protein. There are multiple haplotypes of this allele. The nucleotide sequence of CYP2C19*1A is identical to that of the wild-type allele and exhibits no mutations. CYP2C19*1B and CYP2C19*1C both exhibit a SNP (c.991A G) in exon 7 that results in an I331V coding change. This alteration in protein sequence has no effect on the enzymatic activity of the corresponding cytochrome P450 2C19*1 proteins.;

GenBank Accession Number : NM_000769;

SNP ID : rs3758581;

PubMed : 2009263; 12464799; 7487078;

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31/05/2024


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