LOVD GNPTG homepage

General information
Gene name N-acetylglucosamine-1-phosphate transferase, gamma subunit
Gene symbol GNPTG
Chromosome Location 16p13.3
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the GNPTG database
Date of creation July 16, 2012
Last update October 03, 2013
Version GNPTG131003
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_016985.1
Transcript refseq ID NM_032520.4
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 GNPTG 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 23026
Entrez Gene 84572
OMIM - Gene 607838
OMIM - Disease Mucolipidosis III gamma
UniProtKB (SwissProt/TrEMBL) Q9UJJ9
GeneCards GNPTG
GeneTests GNPTG