LOVD PEX12 homepage

General information
Gene name Peroxisomal Biogenesis Factor 12
Gene symbol PEX12
Chromosome Location 17q12
Database location www.dbpex.org
Curator Nancy Braverman and Steven Steinberg
PubMed references View all (unique) PubMed references in the PEX12 database
Date of creation May 07, 2006
Last update May 19, 2010
Version PEX12 100519
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Reference sequence file coding DNA reference sequence for describing sequence variants
Total number of unique DNA variants reported 22
Total number of individuals with variant(s) 32
Total number of variants reported 63
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the PEX12 database, sorted by type of variant (with graphical displays and statistics)

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the PEX12 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the PEX12 database
Variants with no known pathogenicity Listing of all PEX12 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the PEX12 database in tab-delimited text format.

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
Entrez Gene 5193
OMIM - Gene 601758
OMIM - Disease
HGMD PEX12