About: CYP3A4*17 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP3A4*17 Allele
rdfs:subClassOf
OMIM_Number
  • 124010
GenBank_Accession_Number
  • NM_017460
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP3A4*17 Allele
PubMedID_Primary_Reference
  • 11714865
UMLS_CUI
  • C1707234
SNP_ID
  • rs4987161
Legacy_Concept_Name
  • CYP3A4_17_Allele
FULL_SYN
  • Cytochrome P450, Family 3, Subfamily A, Polypeptide 4*17 AlleleSYNCI
  • CYP3A4, F189SSYNCI
  • CYP3A4*17 AllelePTNCI
  • CYP3A4, g.15615T>CSYNCI
  • CYP3A4*17SYNCI
Gene_Encodes_Product
  • Cytochrome P450 3A4
DEFINITION
  • Human CYP3A4*17 allele is located in the vicinity of 7q21.1 and is approximately 27 kb in length. This allele, a variant form of the CYP3A4 wild-type allele, encodes cytochrome P450 3A4*17 protein. The CYP3A4*17 allele exhibits a clinically-relevant SNP (g.15615T>C) in exon 7 that results in a F189S coding change. This alteration in protein sequence severely decreases the enzymatic activity of the cytochrome P450 3A4*17 protein.NCI
DesignNote
  • Ethnicity Association: Asian
code
  • C46026
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