Researching SNPs (Phenylketonuria)
From Bioinformatikpedia
Contents
Summary
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Research SNPs
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HGMD
HGMD (The Human Gene Mutation Database) ... <figtable id="modeller_single_zscore">
| 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 | |
dbSNP
dbSNP (Short Genetic Variations) ...
SNPdbe
SNPdbe (nsSNP database of functional effects) ...
OMIM
OMIM (Online Mendelian Inheritance in Man) ...
SNPedia
SNPedia ...
Mutation Map
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References
<references/>
