About: CYP2D6*35X2 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2D6*35X2 Allele
rdfs:subClassOf
OMIM_Number
  • 124030
GenBank_Accession_Number
  • NM_000106
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2D6*35X2 Allele
PubMedID_Primary_Reference
  • 9511177
UMLS_CUI
  • C1707220
Legacy_Concept_Name
  • CYP2D6_35X2_Allele
FULL_SYN
  • CYP2D6*35X2SYNCI
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*35X2 AlleleSYNCI
  • CYP2D6*35X2 AllelePTNCI
Gene_Encodes_Product
  • Cytochrome P450 2D6
DEFINITION
  • Human CYP2D6*35X2 allele is located in the vicinity of 22q13.1 and is approximately 4 kb in length. This allele, an amplification variant form of the CYP2D6 wild-type allele, encodes cytochrome P450 2D6*35 protein. The CYP2D6*35 allele exhibits four SNPs (g.31G>A; g.1661G>C; g.2850C>T; g.4180G>C) that result in three coding changes (V11M; R296C; S486T). The CYP2D6*35X2 allele has two copies of the CYP2D6*35 allelic variant. This duplication increases the enzymatic activity of the cytochrome P450 2D6*35 protein in subjects who carry this allele.NCI
DesignNote
  • Ethnicity Association: Caucasian
code
  • C46054
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