CYP1A2*7 Allele

Preferred Label : CYP1A2*7 Allele;

NCIt synonyms : CYP1A2*7; CYP1A2, g.3534G A; Cytochrome P450, Family 1, Subfamily A, Polypeptide 2*7 Allele; CYP1A2 7 Allele;

NCIt definition : Human CYP1A2*7 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*7 protein. The CYP1A2*7 allele exhibits a clinically-relevant SNP (g.3534G A) in the 5' splice-site consensus sequence of intron 6 that is predicted to result in abnormal mRNA splicing. This alteration decreases the in vivo enzymatic activity of the cytochrome P450 1A2*7 protein.;

NCIt note : Ethnicity Association: Caucasian;

GenBank Accession Number : NM_000761;

PubMed : 12919186;

Details

Origin ID

C46038;

UMLS CUI

C1707175;

OMIM relation
- Cytochrome p450, subfamily I, polypeptide 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Guanosine to Adenosine Transition Abnormality [NCIt concept]
- Transition 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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