" /> CYP2C19*2 Allele - CISMeF





Preferred Label : CYP2C19*2 Allele;

NCIt synonyms : CYP2C19*2; CYP2C19, c.681G A; CYP2C19, m1B; CYP2C19, m1; Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*2 Allele; CYP2C19, m1A; CYP2C19 2 Allele; CYP2C19m1;

NCIt definition : Human CYP2C19*2 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*2 protein. The CYP2C19*2 allele exhibits a clinically-relevant SNP (c.681G A) in exon 5 that causes a splicing defect; this alteration results in a truncated cytochrome P450 2C19*2 protein that is enzymatically inactive.;

NCIt note : Ethnicity Association: African American; Asian; Black African; Caucasian; Middle Eastern;

GenBank Accession Number : NM_000769;

SNP ID : rs4244285;

PubMed : 7969038; 10022751;

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20/05/2024


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