Difference between revisions of "Researching SNPs (Phenylketonuria)"
From Bioinformatikpedia
(→HGMD) |
(→HGMD) |
||
Line 33: | Line 33: | ||
|- |
|- |
||
| Complex rearrangements || 1 || x |
| Complex rearrangements || 1 || x |
||
+ | |- |
||
+ | | Repeat variations || 0 || no mutations |
||
|} |
|} |
||
</figtable> |
</figtable> |
Revision as of 20:19, 19 June 2013
Contents
Summary
...
Research SNPs
...
HGMD
HGMD (The Human Gene Mutation Database) ... <figtable id="hgmd">
Mutation types for PAH found in HGMD with appendant quantity and definition | |||
---|---|---|---|
Mutation type | # of mutations | Definition | |
Missense/nonsense | 415 | x | |
Splicing | 82 | x | |
Regulatory | 1 | x | |
Small deletions | 66 | x | |
Small insertions | 8 | x | |
Small indels | 6 | x | |
Gross deletions | 27 | x | |
Gross insertions/duplications | 3 | x | |
Complex rearrangements | 1 | x | |
Repeat variations | 0 | no mutations |
</figtable>
dbSNP
dbSNP (Short Genetic Variations) ...
SNPdbe
SNPdbe (nsSNP database of functional effects) ...
OMIM
OMIM (Online Mendelian Inheritance in Man) ...
SNPedia
SNPedia ...
Mutation Map
...
References
<references/>