About: SBDS wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • SBDS wt Allele
rdfs:subClassOf
OMIM_Number
  • 607444
GenBank_Accession_Number
  • AF151855
Semantic_Type
  • Gene or Genome
Preferred_Name
  • SBDS wt Allele
NCI_META_CUI
  • CL430436
EntrezGene_ID
  • 51119
HGNC_ID
  • HGNC:19440
FULL_SYN
  • Shwachman-Bodian-Diamond Syndrome wt AlleleSYNCI
  • SBDS wt AllelePTNCI
  • SDSSYNCI
  • SWDSSYNCI
  • CGI-97SYNCI
  • FLJ10917SYNCI
DEFINITION
  • Human SBDS wild-type allele is located in the vicinity of 7q11.21 and is approximately 8 kb in length. This allele, which encodes ribosome maturation protein SBDS, is involved in the formation of the ribosome. Mutation of the gene is associated with Shwachman-Bodian-Diamond syndrome.NCI
code
  • C97768
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