Difference between revisions of "Task 5 - Mapping SNPs Canavan"
From Bioinformatikpedia
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=== SNPdbe === |
=== SNPdbe === |
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| + | * same identifiers for sequence as HGMD |
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| − | 55 total, includes predicted functional effect. 29 of these 55 labelled as involved in Canavan Disease. |
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| + | * 55 total, includes predicted functional effect. 29 of these 55 labelled as involved in Canavan Disease. |
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[http://www.rostlab.org/services/snpdbe/dosearch.php?id=name&val=aspa&organism2=human&organism1= link to search] |
[http://www.rostlab.org/services/snpdbe/dosearch.php?id=name&val=aspa&organism2=human&organism1= link to search] |
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Revision as of 16:33, 6 June 2012
First impression
Protocoll
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
- same identifiers for sequence as HGMD
- 55 total, includes predicted functional effect. 29 of these 55 labelled as involved in Canavan Disease.
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
