CYP1A2*11 Allele

Preferred Label : CYP1A2*11 Allele;

NCIt synonyms : CYP1A2, F186L; Cytochrome P450, Family 1, Subfamily A, Polypeptide 2*11 Allele; CYP1A2, g.558C A; CYP1A2*11; CYP1A2 11 Allele;

NCIt definition : Human CYP1A2*11 allele is located within 15q24 and is approximately 8 kb in length. This allele, a variant form of the CYP1A2 wild-type allele, encodes cytochrome P450 1A2*11 protein. The CYP1A2*11 allele exhibits a clinically-relevant SNP (g.558C A) in exon 2 that results in a F186L coding change. This alteration in protein sequence severely decreases the enzymatic activity of the cytochrome P450 1A2*11 protein.;

NCIt note : Ethnicity Association: Asian;

GenBank Accession Number : NM_000761;

PubMed : 14563787;

Details

Origin ID

C46039;

UMLS CUI

C1707173;

OMIM relation
- Cytochrome p450, subfamily I, polypeptide 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Cytosine to Adenosine Transversion Abnormality [NCIt concept]
- Transversion Mutation [NCIt concept]
allele_has_activity
- Decreased Biochemical Activity [NCIt concept]
allele_in_chromosomal_location
- 15q24 [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
- Carcinogen Metabolism [NCIt concept]
- 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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