CYP2D6*1 Allele

Preferred Label : CYP2D6*1 Allele;

NCIt synonyms : CYP2D6, Wild-Type; CYP2D6, M5; CYP2D6, M4; Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*1 Allele; CYP2D6*1; CYP2D6 1 Allele;

NCIt definition : Human CYP2D6*1 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*1 protein. There are multiple haplotypes of the CYP2D6*1 allele. The nucleotide sequence of CYP2D6*1A is identical to that of the wild-type allele and exhibits no mutations. Four other haplotypes of the CYP2D6*1 allele exhibit SNPs that have no effect on the enzymatic activity of the corresponding cytochrome P450 2D6*10 proteins.;

GenBank Accession Number : NM_000106;

PubMed : 15289788;

Details

Origin ID

C45616;

UMLS CUI

C1707216;

OMIM relation
- Cytochrome p450, subfamily iid, polypeptide 6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Transition Mutation [NCIt concept]
- Transversion Mutation [NCIt concept]
allele_has_activity
- Standard Biochemical Activity [NCIt concept]
allele_plays_role_in_metabolism_of_chemical_or_drug
- Antidepressant Agent [NCIt concept]
- Antipsychotic Agent [NCIt concept]
- Lidocaine [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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