CYP2C8*6 Allele

Preferred Label : CYP2C8*6 Allele;

NCIt synonyms : CYP2C8, c.511G A; CYP2C8, G171S; Cytochrome P450, Family 2, Subfamily C, Polypeptide 8*6 Allele; CYP2C8*6; CYP2C8 6 Allele;

NCIt definition : Human CYP2C8*6 allele is located in the vicinity of 10q23.33 and is approximately 33 kb in length. This allele, a variant form of the CYP2C8 wild-type allele, encodes cytochrome P450 2C8*6 protein. The CYP2C8*6 allele exhibits a SNP (c.511G A) in exon 4 that results in a G171S coding change. However, this alteration in protein sequence has no effect on the enzymatic activity of the cytochrome P450 2C8*6 protein.;

NCIt note : Ethnicity Association: Asian;

GenBank Accession Number : NM_000770;

PubMed : 15716363;

Details

Origin ID

C46034;

UMLS CUI

C1707193;

OMIM relation
- Cytochrome p450, subfamily iic, polypeptide 8 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Guanosine to Adenosine Transition Abnormality [NCIt concept]
- Transition Mutation [NCIt concept]
allele_has_activity
- Standard Biochemical Activity [NCIt concept]
allele_in_chromosomal_location
- 10q23.33 [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]
- Drug Metabolism [NCIt concept]
- Fatty Acid Metabolism [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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