CYP2D6*4 Allele

Preferred Label : CYP2D6*4 Allele;

NCIt synonyms : Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*4 Allele; CYP2D6(B); CYP2D6, g.1846G A; CYP2D6, K29-1; CYP2D6*4; CYP2D6B; CYP2D6 4 Allele;

NCIt definition : Human CYP2D6*4 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*4 protein. The CYP2D6*4 allele exhibits a clinically-relevant SNP (g.1846G A) at the consensus sequence of the splice site of intron 3 that results in a premature stop codon. This alteration yields a truncated cytochrome P450 2D6*4 protein that is enzymatically inactive.;

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

GenBank Accession Number : NM_000106;

Details

Origin ID

C45620;

UMLS CUI

C1707226;

OMIM relation
- Cytochrome p450, subfamily iid, polypeptide 6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Guanosine to Adenosine Transition Abnormality [NCIt concept]
- Protein Truncation Abnormality [NCIt concept]
- Splice-Site Mutation [NCIt concept]
- Transition 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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