CYP2D6*38 Allele

Preferred Label : CYP2D6*38 Allele;

NCIt synonyms : CYP2D6, g.2587delGACT; Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*38 Allele; CYP2D6, N2; CYP2D6*38; CYP2D6 38 Allele;

NCIt definition : Human CYP2D6*38 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*38 protein. The CYP2D6*38 allele exhibits a four nucleotide deletion (g.2587delGACT) that results in a frameshift during protein coding. This alteration abolishes the enzymatic activity of the cytochrome P450 2D6*38 protein.;

GenBank Accession Number : NM_000106;

PubMed : 9918137;

Details

Origin ID

C46056;

UMLS CUI

C1707221;

OMIM relation
- Cytochrome p450, subfamily iid, polypeptide 6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Deletion Mutation [NCIt concept]
- Frameshift 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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