Difference between revisions of "Researching SNPs (Phenylketonuria)"
From Bioinformatikpedia
(→HGMD) |
(→HGMD) |
||
Line 11: | Line 11: | ||
{| border="1" style="text-align:center;" cellpadding="5" cellspacing="0" align="center" |
{| border="1" style="text-align:center;" cellpadding="5" cellspacing="0" align="center" |
||
|- |
|- |
||
− | ! colspan="4" style="background:#228B22;" | Mutation types found in HGMD with |
+ | ! colspan="4" style="background:#228B22;" | Mutation types for PAH found in HGMD with appendant quantity and definition |
|- |
|- |
||
! style="background:#32CD32;" | Mutation type |
! style="background:#32CD32;" | Mutation type |
Revision as of 19:51, 19 June 2013
Contents
Summary
...
Research SNPs
...
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
...
References
<references/>