Task 5 - Mapping SNPs Canavan

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Revision as of 17:59, 6 June 2012 by Gatzmannf (talk | contribs) (First impression)

First impression

Protocol

Further information can be found in the protocol.

HGMD

74 total for cDNA sequence NM_000049.2 and amino acid sequence NP_000040.1, out of which

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

link to search

SNPdbe

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

link to search

dbSNP

  • same identifiers for sequence as HGMD
  • "synonymous-codon"[Function_Class] AND ASPA[GENE] AND "human"[ORGN] AND "snp"[SNP_CLASS] yields only 9 results
  • 505 results for SNPs in general in human

SNPedia

links to other pages