LOVD TSPAN12 homepage

General information
Gene name tetraspanin 12
Gene symbol TSPAN12
Chromosome Location 7q31.31
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the TSPAN12 database
Date of creation July 16, 2012
Last update October 03, 2013
Version TSPAN12 131003
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_023203.1
Transcript refseq ID NM_012338.3
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 TSPAN12 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 21641
Entrez Gene 23554
OMIM - Gene 613138
OMIM - Disease Exudative vitreoretinopathy 5 (EVR5)
UniProtKB (SwissProt/TrEMBL) O95859
GeneCards TSPAN12
GeneTests TSPAN12