Difference between revisions of "Researching SNPs (Phenylketonuria)"
From Bioinformatikpedia
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| Complex rearrangements || 1 || x |
| Complex rearrangements || 1 || x |
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| + | | Repeat variations || 0 || no mutations |
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</figtable> |
</figtable> |
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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/>
