CYP2C8*7 Allele

Preferred Label : CYP2C8*7 Allele;

NCIt synonyms : CYP2C8, R186X; Cytochrome P450, Family 2, Subfamily C, Polypeptide 8*7 Allele; CYP2C8, c.556C T; CYP2C8*7; CYP2C8 7 Allele;

NCIt definition : Human CYP2C8*7 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*7 protein. The CYP2C8*7 allele exhibits a clinically-relevant SNP (c.556C T) in exon 4 that results in a R186X coding change. This alteration yields a truncated cytochrome P450 2C8*7 protein that is enzymatically inactive.;

NCIt note : Ethnicity Association: Asian;

GenBank Accession Number : NM_000770;

PubMed : 15716363;

Details

Origin ID

C46035;

UMLS CUI

C1707194;

OMIM relation
- Cytochrome p450, subfamily iic, polypeptide 8 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Cytosine to Thymidine Transition Abnormality [NCIt concept]
- Protein Truncation Abnormality [NCIt concept]
- Transition Mutation [NCIt concept]
allele_has_activity
- Absence of Biochemical Activity [NCIt concept]
allele_in_chromosomal_location
- 10q23.33 [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]
- 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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