About: CYP2D6*44 Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • CYP2D6*44 Allele
rdfs:subClassOf
OMIM_Number
  • 124030
GenBank_Accession_Number
  • NM_000106
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2D6*44 Allele
PubMedID_Primary_Reference
  • 15618746
UMLS_CUI
  • C1707225
Legacy_Concept_Name
  • CYP2D6_44_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*44 AlleleSYNCI
  • CYP2D6*44 AllelePTNCI
  • CYP2D6, g.2950G>CSYNCI
  • CYP2D6*44SYNCI
DEFINITION
  • Human CYP2D6*44 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*44 protein. The CYP2D6*44 allele exhibits a clinically-relevant SNP (g.2950G>C) in the intron 6 donor splice junction that results in a splicing defect. This alteration abolishes the enzymatic activity of the cytochrome P450 2D6*44 protein.NCI
DesignNote
  • Ethnicity Association: Asian
code
  • C46060
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 116 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software