Difference between revisions of "Researching SNPs (Phenylketonuria)"
From Bioinformatikpedia
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=== HGMD === |
=== HGMD === |
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[http://www.hgmd.org/ HGMD] (The Human Gene Mutation Database) ... |
[http://www.hgmd.org/ HGMD] (The Human Gene Mutation Database) ... |
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+ | <figtable id="modeller_single_zscore"> |
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+ | {| border="1" style="text-align:center;" cellpadding="5" cellspacing="0" align="center" |
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+ | |- |
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+ | ! colspan="4" style="background:#228B22;" | Sequence identity and combined Z-score of the models generated with Modeller |
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+ | |- |
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+ | ! style="background:#32CD32;" | Mutation type |
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+ | ! style="background:#32CD32;" | # of mutations |
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+ | ! style="background:#32CD32;" | Definition |
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+ | |- |
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+ | | Missense/nonsense || 415 || x |
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+ | |- |
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+ | | Splicing || 82 || x |
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+ | |- |
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+ | | Regulatory || 1 || x |
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+ | |- |
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+ | | Small deletions || 66 || x |
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+ | |- |
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+ | | Small insertions || 8 || x |
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+ | |- |
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+ | | Small indels || 6 || x |
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+ | |- |
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+ | | Gross deletions || 27 || x |
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+ | |- |
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+ | | Gross insertions/duplications || 3 || x |
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+ | |- |
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+ | | Complex rearrangements || 1 || x |
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+ | |} |
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=== dbSNP === |
=== dbSNP === |
Revision as of 19:44, 19 June 2013
Contents
Summary
...
Research SNPs
...
HGMD
HGMD (The Human Gene Mutation Database) ...
<figtable id="modeller_single_zscore">
Sequence identity and combined Z-score of the models generated with Modeller | |||
---|---|---|---|
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
...
References
<references/>