Task 5 - Mapping SNPs Canavan
From Bioinformatikpedia
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