CYP2D6*44 Allele

Preferred Label : CYP2D6*44 Allele;

NCIt synonyms : CYP2D6*44; Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*44 Allele; CYP2D6, g.2950G C; CYP2D6 44 Allele;

NCIt definition : Human CYP2D6*44 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*44 protein. The CYP2D6*44 allele exhibits a clinically-relevant SNP (g.2950G C) in the intron 6 donor splice junction that results in a splicing defect. This alteration abolishes the enzymatic activity of the cytochrome P450 2D6*44 protein.;

NCIt note : Ethnicity Association: Asian;

GenBank Accession Number : NM_000106;

PubMed : 15618746;

Details

Origin ID

C46060;

UMLS CUI

C1707225;

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