CYP2C19*3 Allele

Preferred Label : CYP2C19*3 Allele;

NCIt synonyms : CYP2C19, W212X; CYP2C19, c.636G A; CYP2C19, m2; Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*3 Allele; CYP2C19*3; CYP2C19 3 Allele;

NCIt definition : Human CYP2C19*3 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*3 protein. The CYP2C19*3 allele exhibits a clinically-relevant SNP (c.636G A) in exon 3 that results in a W212X coding change. This alteration in protein sequence abolishes the enzymatic activity of the cytochrome P450 2C19*3 protein.;

NCIt note : Ethnicity Association: Asian;

GenBank Accession Number : NM_000769;

SNP ID : rs4986893;

PubMed : 7969038;

Details

Origin ID

C45606;

UMLS CUI

C1707182;

OMIM relation
- Cytochrome p450, subfamily iic, polypeptide 19 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Frameshift Mutation [NCIt concept]
- Guanosine to Adenosine Transition Abnormality [NCIt concept]
- Nonsense Mutation [NCIt concept]
- Transition Mutation [NCIt concept]
allele_has_activity
- Absence of Biochemical Activity [NCIt concept]
allele_in_chromosomal_location
- 10q24.1-q24.3 [NCIt concept]
allele_plays_altered_role_in_process
- Drug Metabolism [NCIt concept]
- Xenobiotic Metabolism [NCIt concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Detoxification [NCIt concept]
- Drug Metabolism [NCIt concept]
- Intermediary Metabolic Process [NCIt concept]
- Iron Chelation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Xenobiotic Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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