Health / Medical Topics

    SNURF wt Allele

    Human SNURF wild-type allele is located in the vicinity of 15q12 and is approximately 45 kb in length. This allele, which encodes SNRPN upstream reading frame protein, may play a role in brain development. Splice variants or chromosomal translocation causing deletion of either the 5' untranslated region or the coding region of the gene is associated with either Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. (NCI Thesaurus)




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