Difference between revisions of "Task 5 - Mapping SNPs Canavan"
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== First impression == |
== First impression == |
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Further information can be found in the [[CD_task5_protocol|protocol]]. |
Further information can be found in the [[CD_task5_protocol|protocol]]. |
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Revision as of 17:59, 6 June 2012
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
SNPdbe
- 55 total, includes predicted functional effect. 29 of these 55 labelled as involved in Canavan Disease.
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
