About: DCLRE1C wt 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
  • DCLRE1C wt Allele
rdfs:subClassOf
OMIM_Number
  • 605988
GenBank_Accession_Number
  • BC022254
Semantic_Type
  • Gene or Genome
Preferred_Name
  • DCLRE1C wt Allele
UMLS_CUI
  • C2983312
EntrezGene_ID
  • 64421
HGNC_ID
  • HGNC:17642
FULL_SYN
  • DNA Cross-Link Repair 1C (PSO2 Homolog, S. cerevisiae) wt AlleleSYNCI
  • SNM1CSYNCI
  • ASCIDSYNCI
  • SCIDASYNCI
  • DCLRE1C wt AllelePTNCI
  • OTTHUMP00000019170SYNCI
  • OTTHUMP00000019171SYNCI
  • OTTHUMP00000019172SYNCI
  • OTTHUMP00000019166SYNCI
  • OTTHUMP00000019167SYNCI
  • OTTHUMP00000019168SYNCI
  • A-SCIDSYNCI
  • hSNM1CSYNCI
  • Severe Combined Immunodeficiency, Type a (Athabascan) GeneSYNCI
  • RS-SCIDSYNCI
  • ARTEMISSYNCI
  • FLJ11360SYNCI
  • FLJ36438SYNCI
  • DCLREC1CSYNCI
DEFINITION
  • NCIHuman DCLRE1C wild-type allele is located in the vicinity of 10p13 and is approximately 97 kb in length. This allele, which encodes protein artemis, plays a role in the mediation of both V(D)J recombination and DNA repair via nonhomologous end joining. Mutation of the gene is associated with severe combined immunodeficiency Athabaskan type and Omenn syndrome.
code
  • C90041
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, 37 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software