Task 5 - Mapping SNPs Canavan

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Revision as of 15:28, 6 June 2012 by Gatzmannf (talk | contribs) (SNPdbe)

First impression

HGMD

74 total for cDNA sequence NM_000049.2, out of which

  • 47 missense/nonsense
  • 5 splicing
  • 12 small deletions
  • 2 small insertions
  • 1 indel
  • 7 gross deletions


SNPdbe

55 total, includes predicted functional effect. 29 of these 55 labelled as involved in Canavan Disease. link to search