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LOVD KCNJ13 homepage

General information
Gene name potassium inwardly-rectifying channel, subfamily J, member 13
Gene symbol KCNJ13
Chromosome Location 2q37
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the KCNJ13 database
Date of creation July 16, 2012
Last update July 16, 2012
Version KCNJ13 120716
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_016742.1
Transcript refseq ID NM_002242.4
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 KCNJ13 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 6259
Entrez Gene 3769
OMIM - Gene 603208
OMIM - Disease Leber congenital amaurosis 16 (LCA16)
UniProtKB (SwissProt/TrEMBL) O60928
HGMD KCNJ13
GeneCards KCNJ13
GeneTests KCNJ13

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