Difference between revisions of "Task 5 - Mapping SNPs Canavan"
From Bioinformatikpedia
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===HGMD=== |
===HGMD=== |
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| − | 74 total for cDNA sequence NM_000049.2, out of which |
+ | 74 total for cDNA sequence NM_000049.2 and amino acid sequence NP_000040.1, out of which |
* 47 missense/nonsense |
* 47 missense/nonsense |
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* 5 splicing |
* 5 splicing |
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* 7 gross deletions |
* 7 gross deletions |
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[http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ASPA link to search] |
[http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ASPA link to search] |
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=== SNPdbe === |
=== SNPdbe === |
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Revision as of 16:02, 6 June 2012
First impression
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. link to search
dbSNP
- "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
