About: CYP2C8*3 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2C8*3 Allele
rdfs:subClassOf
OMIM_Number
  • 601129
GenBank_Accession_Number
  • NM_000770
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2C8*3 Allele
PubMedID_Primary_Reference
  • 11668219
  • 12429347
UMLS_CUI
  • C1707190
SNP_ID
  • rs10509681
  • rs11572080
Legacy_Concept_Name
  • CYP2C8_3_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 8*3 AlleleSYNCI
  • CYP2C8, c.416G>A, c.1196A>GSYNCI
  • CYP2C8*3 AllelePTNCI
  • CYP2C8, R139K, K399RSYNCI
  • CYP2C8*3SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2C8
DEFINITION
  • 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.NCI
DesignNote
  • Ethnicity Association: Caucasian
code
  • C46031
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