About: CYP3A7*2 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP3A7*2 Allele
rdfs:subClassOf
OMIM_Number
  • 605340
GenBank_Accession_Number
  • NM_000765
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP3A7*2 Allele
PubMedID_Primary_Reference
  • 15903124
UMLS_CUI
  • C1707239
SNP_ID
  • rs2257401
Legacy_Concept_Name
  • CYP3A7_2_Allele
FULL_SYN
  • CYP3A7, T409RSYNCI
  • CYP3A7*2 AllelePTNCI
  • CYP3A7, c.1226C>GSYNCI
  • CYP3A7*2SYNCI
  • Cytochrome P450, Family 3, Subfamily A, Polypeptide7*2 AlleleSYNCI
Gene_Encodes_Product
  • Cytochrome P450 3A7
DEFINITION
  • Human CYP3A7*2 allele is located within 7q21-q22.1 and is approximately 30 kb in length. This allele, a variant form of the human CYP3A7 wild-type allele, encodes cytochrome P450 3A7*2 protein. This allele exhibits a clinically-relevant SNP (c.1226C>G) in exon 11 that results in a T409R coding change. This alteration in protein sequence increases the enzymatic activity of the cytochrome P450 3A7*2 protein.NCI
DesignNote
  • Ethnicity Association: Asian; Black African; Caucasian; Middle Eastern
code
  • C46020
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