CYP2D6*2 Allele

Preferred Label : CYP2D6*2 Allele;

NCIt synonyms : Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*2 Allele; CYP2D6*2; CYP2D6L; CYP2D6, R296C, S486T; CYP2D6, g.2850C T, g.4180G C; CYP2D6 2 Allele;

NCIt definition : Human CYP2D6*2 allele is located in the vicinity of 22q13.1 and is approximately 4 kb in length. This allele, a variant form of the CYP2D6 wild-type allele, encodes cytochrome P450 2D6*2 protein. The majority of haplotypes of the CYP2D6*2 allele exhibit SNPs (g.2850C T; g.4180G C) in exons 6 and 9 that result in R296C and S486T coding changes. These alterations in protein sequence have no significant effect on the enzymatic activity of the cytochrome P450 2D6*2 protein.;

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

GenBank Accession Number : NM_000106;

Details

Origin ID

C46040;

UMLS CUI

C1706120;

OMIM relation
- Cytochrome p450, subfamily iid, polypeptide 6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Cytosine to Thymidine Transition Abnormality [NCIt concept]
- Guanosine to Cytosine Transversion Abnormality [NCIt concept]
- Transition Mutation [NCIt concept]
- Transversion Mutation [NCIt concept]
allele_has_activity
- Standard Biochemical Activity [NCIt concept]
allele_in_chromosomal_location
- 22q13.1 [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]
- 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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