The ABHD12 gene homepage

General information
Gene symbol ABHD12
Gene name abhydrolase domain containing 12
Chromosome 20
Chromosomal band p11.21
Imprinted Unknown
Genomic reference NG_028119.1
Transcript reference NM_001042472.2, NM_015600.4
Associated with diseases polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC)
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 322
Unique public DNA variants reported 25
Individuals with public variants 35
Hidden variants 27
Date created November 30, -0001
Date last updated September 28, 2016
Version ABHD12:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:15868
Entrez Gene 26090
PubMed articles ABHD12
OMIM - Gene 613599
OMIM - Diseases polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009795 20 transcript variant 2 NM_015600.4 NP_056415.1 222
00009796 20 transcript variant 1 NM_001042472.2 NP_001035937.1 200