About: CYP2D6*2 Allele     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2D6*2 Allele
rdfs:subClassOf
OMIM_Number
  • 124030
GenBank_Accession_Number
  • NM_000106
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2D6*2 Allele
UMLS_CUI
  • C1706120
Legacy_Concept_Name
  • CYP2D6_2_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*2 AlleleSYNCI
  • CYP2D6*2 AllelePTNCI
  • CYP2D6, g.2850C>T, g.4180G>CSYNCI
  • CYP2D6LSYNCI
  • CYP2D6, R296C, S486TSYNCI
  • CYP2D6*2SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2D6
DEFINITION
  • Human CYP2D6*2 allele is located in the vicinity of 22q13.1 and is approximately 4 kb in length. This allele, a variant form of the CYP2D6 wild-type allele, encodes cytochrome P450 2D6*2 protein. The majority of haplotypes of the CYP2D6*2 allele exhibit SNPs (g.2850C>T; g.4180G>C) in exons 6 and 9 that result in R296C and S486T coding changes. These alterations in protein sequence have no significant effect on the enzymatic activity of the cytochrome P450 2D6*2 protein.NCI
DesignNote
  • Ethnicity Association: African American; Asian; Caucasian; Middle Eastern
code
  • C46040
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