LOVD ATP6V0A2 homepage

General information
Gene name ATPase, H+ transporting, lysosomal V0 subunit a2
Gene symbol ATP6V0A2
Chromosome Location 12q24.31
Database location grenada.lumc.nl
Curator Zsolt Urban
Database reference for citations PMID2247090 PMID18157129
PubMed references View all (unique) PubMed references in the ATP6V0A2 database
Date of creation April 29, 2010
Last update January 05, 2013
Version ATP6V0A2 130105
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Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the ATP6V0A2 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 18481
Entrez Gene 23545
OMIM - Gene 611716
OMIM - Disease #1 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA;
OMIM - Disease #2 WRINKLY SKIN SYNDROME
UniProtKB (SwissProt/TrEMBL) Q9Y487
External link Orphanet