Researching SNPs (PKU)
From Bioinformatikpedia
Contents
Short Task Description
In this weeks task, we will research SNPs in the PAH gene that cause or do not cause a different phenotype of the phenylalanine hydroxylase. The chosen databases are: The public release of the Human Gene Mutation Database (HGMD), dbSNP, SNPdbe, OMIM and SNPedia. You may find a detailed task description here.
Databases
Overview
<figtable id="tab:modelling_scores"> Key Values of the different SNP databases
| Database | Last Update | Number of Entries | Number of Entries concerning PAH | Type of information | Sources | Curation/Verification | Comment |
|---|---|---|---|---|---|---|---|
| HGMD | public after 3 years (quarterly updated) | 50129 (only mis-/nonsense) | 397 (only mis-/nonsense) | all types of mutations | current literature | manual and computerised search in current literature | too much advertising |
</figtable>
HGMD
http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH
dpSNP
http://www.ncbi.nlm.nih.gov/snp/?term=PAH
OMIM
SNPdbe
http://www.rostlab.org/services/snpdbe/dosearch.php?id=name&val=PAH&organism2=human&organism1=
