Task 5 - Mapping SNPs Canavan

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

• • 458 for NP_000040.1 (coding: 23)
  • 493 for NP_001121557.1 (coding: 23)

SNPedia

links to other pages