About: CYP2C8*7 Allele     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2C8*7 Allele
rdfs:subClassOf
OMIM_Number
  • 601129
GenBank_Accession_Number
  • NM_000770
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2C8*7 Allele
PubMedID_Primary_Reference
  • 15716363
UMLS_CUI
  • C1707194
Legacy_Concept_Name
  • CYP2C8_7_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 8*7 AlleleSYNCI
  • CYP2C8, R186XSYNCI
  • CYP2C8*7 AllelePTNCI
  • CYP2C8, c.556C>TSYNCI
  • CYP2C8*7SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2C8
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.NCI
DesignNote
  • Ethnicity Association: Asian
code
  • C46035
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