LOVD GNAT1 homepage

General information
Gene name guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
Gene symbol GNAT1
Chromosome Location 3p21
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the GNAT1 database
Date of creation July 16, 2012
Last update October 03, 2013
Version GNAT1 131003
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_009831.1
Transcript refseq ID NM_144499.2
Exon/intron information Exon/intron information table
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 GNAT1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
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 4393
Entrez Gene 2779
OMIM - Gene 139330
OMIM - Disease Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3)
UniProtKB (SwissProt/TrEMBL) P11488
GeneCards GNAT1
GeneTests GNAT1