Eye diseases - LOVD
N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG)
LOVD v.2.0 Build 35 [
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Curator:
LOVD-team, but with Curator vacancy
GNPTG homepage
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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
July 16, 2012
Version
GNPTG120716
Add sequence variant
Submit a sequence variant
First time submitters
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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
HGMD
GNPTG
GeneCards
GNPTG
GeneTests
GNPTG
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©2004-2012
Leiden University Medical Center