About: CYP2C9*12 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2C9*12 Allele
rdfs:subClassOf
OMIM_Number
  • 601130
GenBank_Accession_Number
  • NM_000771
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2C9*12 Allele
PubMedID_Primary_Reference
  • 15284535
UMLS_CUI
  • C1707198
SNP_ID
  • rs9332239
Legacy_Concept_Name
  • CYP2C9_12_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 9*12 AlleleSYNCI
  • CYP2C9, P489SSYNCI
  • CYP2C9*12 AllelePTNCI
  • CYP2C9, c.1465C>TSYNCI
  • CYP2C9*12SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2C9
DEFINITION
  • Human CYP2C9*12 allele is located within 10q24 and is approximately 33 kb in length. This allele, a variant form of the CYP2C9 wild-type allele, encodes cytochrome P450 2C9*12 protein. The CYP2C9*12 allele exhibits a clinically-relevant SNP (c.1465C>T) in exon 9 that results in a P489S coding change. This alteration in protein sequence decreases the enzymatic activity of the cytochrome P450 2C9*12 protein.NCI
DesignNote
  • Ethnicity Association: None Established
code
  • C46017
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