Researching SNPs (PKU)

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

dpSNP

http://www.ncbi.nlm.nih.gov/gene/5053

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