About: FMR1 wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • FMR1 wt Allele
rdfs:subClassOf
OMIM_Number
  • 309550
GenBank_Accession_Number
  • X69962
Semantic_Type
  • Gene or Genome
Preferred_Name
  • FMR1 wt Allele
UMLS_CUI
  • C2700049
EntrezGene_ID
  • 2332
Legacy_Concept_Name
  • FMR1_wt_Allele
HGNC_ID
  • HGNC:3775
FULL_SYN
  • FMR1 wt AllelePTNCI
  • FMRPSYNCI
  • FRAXASYNCI
  • Fragile X Mental Retardation 1 wt AlleleSYNCI
  • MGC87458SYNCI
DEFINITION
  • Human FMR1 wild-type allele is located in the vicinity of Xq27.3 and is approximately 39 kb in length. This allele, which encodes fragile X mental retardation 1 protein, may play a role in the mediation of mRNA transport. Amplification of a trinucleotide repeat (CGG) within the gene is associated with fragile X syndrome.NCI
DesignNote
  • Fragile X tremor/ataxia syndrome results from the occurrence of 55-200 repeats of the CGG sequence while having over 200 repeats of the trinucleotide results in the more severe fragile X syndrome with mental retardation.
code
  • C75422
Faceted Search & Find service v1.16.121 as of Mar 31 2025


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]
OpenLink Virtuoso version 07.20.3240 as of Mar 31 2025, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 13 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software