Difference between revisions of "Fabry:Mapping point mutations"
From Bioinformatikpedia
Staniewski (talk | contribs) |
Staniewski (talk | contribs) (→dbSNP) |
||
| Line 23: | Line 23: | ||
== dbSNP == |
== dbSNP == |
||
| − | At the time we checked [http://www.ncbi.nlm.nih.gov/snp/?term=%22synonymous-codon%22 |
+ | At the time we checked [http://www.ncbi.nlm.nih.gov/snp/?term=%22synonymous-codon%22%5BFunction_Class%5D+AND+GLA%5BGENE%5D+AND+%22human%22%5BORGN%5D+AND+%22snp%22%5BSNP_CLASS%5D+&SITE=NcbiHome&submit=Go dbSNP], it listed eight silent single point mutations. |
Revision as of 12:31, 8 June 2012
Fabry Disease » Mapping point mutations
The following analyses were performed on the basis of the α-Galactosidase A sequence. Please consult the journal for the commands used to generate the results.
HGMD
Mutation types:
- Missense/nonsense
- Splicing
- Regulatory
- Small deletions
- Small insertions
- Small indels
- Gross deletions
- Gross insertions
- Complex
- Repeats
dbSNP
At the time we checked dbSNP, it listed eight silent single point mutations.
