Researching SNPs (PKU)

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Revision as of 16:24, 5 June 2012 by Boidolj (talk | contribs) (dpSNP)

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

dpSNP

http://www.ncbi.nlm.nih.gov/snp/?term=PAH

OMIM

http://mim.org/entry/261600?search=PAH

http://omim.org/entry/261600

SNPdbe

http://www.rostlab.org/services/snpdbe/dosearch.php?id=name&val=PAH&organism2=human&organism1=

SNPedia

http://www.snpedia.com/index.php/PAH