Difference between revisions of "Researching SNPs (Phenylketonuria)"

From Bioinformatikpedia
(→‎Research SNPs)
(→‎HGMD)
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=== HGMD ===
  
=== HGMD ===
 
[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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|}
   
 
=== dbSNP ===
  
=== dbSNP ===

Revision as of 19:44, 19 June 2013

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/>

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