About: CYP3A4*18 Allele     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP3A4*18 Allele
rdfs:subClassOf
OMIM_Number
  • 124010
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP3A4*18 Allele
PubMedID_Primary_Reference
  • 11714865
UMLS_CUI
  • C1707235
Legacy_Concept_Name
  • CYP3A4_18_Allele
FULL_SYN
  • Cytochrome P450, Family 3, Subfamily A, Polypeptide 4*18 AlleleSYNCI
  • CYP3A4, L293PSYNCI
  • CYP3A4*18 AllelePTNCI
  • CYP3A4, g.20070T>CSYNCI
  • CYP3A4*18SYNCI
Gene_Encodes_Product
  • Cytochrome P450 3A4
DEFINITION
  • Human CYP3A4*18 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*18 protein. The CYP3A4*18 allele exhibits a clinically-relevant SNP (g.20070T>C) in exon 10 that results in a L293P coding change. This alteration in protein sequence dramatically increases the enzymatic activity of the cytochrome P450 3A4*18 protein.NCI
DesignNote
  • Ethnicity Association: Caucasian
code
  • C46027
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