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CYP2C8*3 Allele

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Human CYP2C8*3 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*3 protein. The CYP2C8*3 allele exhibits clinically-relevant SNPs (c.416G>A, c.1196A>G) in exons 3 and 8 that result in coding changes (R139K, K399R). These alterations in protein sequence severely decrease the enzymatic activity of the cytochrome P450 2C8*3 protein. [ ]

Term info

Label

CYP2C8*3 Allele

Synonyms
  • CYP2C8*3
  • CYP2C8*3 Allele
  • CYP2C8, R139K, K399R
  • CYP2C8, c.416G>A, c.1196A>G
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 8*3 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Caucasian

Display Name

CYP2C8*3 Allele

Gene Encodes Product

Cytochrome P450 2C8

Legacy Concept Name

CYP2C8_3_Allele

OMIM Number

601129

Preferred Name

CYP2C8*3 Allele

PubMedID Primary Reference

11668219, 12429347

SNP ID

rs11572080, rs10509681

Semantic Type

Gene or Genome

UMLS CUI

C1707190

code

C46031