About: CYP2C9*1 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2C9*1 Allele
rdfs:subClassOf
OMIM_Number
  • 601130
GenBank_Accession_Number
  • NM_000771
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2C9*1 Allele
PubMedID_Primary_Reference
  • 15608560
UMLS_CUI
  • C1707201
Legacy_Concept_Name
  • CYP2C9_1_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 9*1 AlleleSYNCI
  • CYP2C9*1 AllelePTNCI
  • CYP2C9, Wild-TypeSYNCI
  • CYP2C9*1SYNCI
  • CYP2C9, g.-2665delTG, g.-1188T>CSYNCI
Gene_Encodes_Product
  • Cytochrome P450 2C9
DEFINITION
  • Human CYP2C9*1 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*1 protein. There are multiple haplotypes of this allele. The nucleotide sequence of CYP2C9*1A is identical to that of the wild-type allele and exhibits no mutations. Three other haplotypes of this allele exhibit a deletion (g.-2665delTG) and/or a SNP (g.-1188T>C) in the 5'- flanking region upstream of the gene. However, these nucleotide changes have no effect on the enzymatic activity of the corresponding cytochrome P450 2C9*1 protein.NCI
code
  • C45610
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