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 and amino acid sequence NP_000040.1, out of which |
+ | 74 (79 in 2012 professional) 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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Revision as of 19:05, 7 June 2012
First impression
Protocol
Further information can be found in the protocol.
HGMD
74 (79 in 2012 professional) 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
- 458 for NP_000040.1 (coding: 23)
- 493 for NP_001121557.1 (coding: 23)
SNPedia
links to other pages
