About: CYP2C19*3 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
  • CYP2C19*3 Allele
rdfs:subClassOf
OMIM_Number
  • 124020
GenBank_Accession_Number
  • NM_000769
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2C19*3 Allele
PubMedID_Primary_Reference
  • 7969038
UMLS_CUI
  • C1707182
SNP_ID
  • rs4986893
Legacy_Concept_Name
  • CYP2C19_3_Allele
FULL_SYN
  • CYP2C19, m2SYNCI
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*3 AlleleSYNCI
  • CYP2C19, W212XSYNCI
  • CYP2C19*3 AllelePTNCI
  • CYP2C19, c.636G>ASYNCI
  • CYP2C19*3SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2C19
DEFINITION
  • Human CYP2C19*3 allele is located within 10q24.1-q24.3 and is approximately 90 kb in length. This allele, a variant form of the CYP2C19 wild-type allele, encodes cytochrome P450 2C19*3 protein. The CYP2C19*3 allele exhibits a clinically-relevant SNP (c.636G>A) in exon 3 that results in a W212X coding change. This alteration in protein sequence abolishes the enzymatic activity of the cytochrome P450 2C19*3 protein.NCI
DesignNote
  • Ethnicity Association: Asian
code
  • C45606
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, 46 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software