Difference between revisions of "Task 5 - Mapping SNPs Canavan"
From Bioinformatikpedia
(→HGMD) |
(→dbSNP) |
||
| Line 23: | Line 23: | ||
* "synonymous-codon"[Function_Class] AND ASPA[GENE] AND "human"[ORGN] AND "snp"[SNP_CLASS] yields only 9 results |
* "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 |
* 505 results for SNPs in general in human |
||
| − | |||
** 458 for NP_000040.1 (coding: 23) |
** 458 for NP_000040.1 (coding: 23) |
||
** 493 for NP_001121557.1 (coding: 23) |
** 493 for NP_001121557.1 (coding: 23) |
||
Revision as of 19:20, 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
