NGLY1 gene homepage - MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

NGLY1 (N-glycanase 1)

LOVD v.3.0 Build 21 [ Current LOVD status ]
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	Curators: Lishuang Shen, Marni J Falk, L Shen, Richard Haas, Xiaowu Gai, Xiaowu Gai and kongj3

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NGLY1 gene homepage

General information
Gene symbol	NGLY1
Gene name	N-glycanase 1
Chromosome	3
Chromosomal band	p23
Imprinted	Unknown
Genomic reference	NC_000003.11
Transcript reference	NM_001145293.1, NM_001145294.1, NM_001145295.1, NM_018297.3, XM_005265316.1, XM_005265317.1, XR_245148.1
Associated with diseases	-
Citation reference(s)	-
Curators (7)	Lishuang Shen, Marni J Falk, L Shen, Richard Haas, Xiaowu Gai, Xiaowu Gai and kongj3
Total number of public variants reported	10
Unique public DNA variants reported	10
Individuals with public variants	0
Hidden variants	0
Download all this gene's data	Download all data
Date created	March 10, 2016

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	17646
Entrez Gene	55768
PubMed articles	NGLY1
OMIM - Gene	610661
HGMD	NGLY1
GeneCards	NGLY1
GeneTests	NGLY1

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00003405	3	transcript variant 1	NM_018297.3	NP_060767.2	10
00003406	3	transcript variant 2	NM_001145293.1	NP_001138765.1	10
00003407	3	transcript variant 3	NM_001145294.1	NP_001138766.1	10
00003408	3	transcript variant 4	NM_001145295.1	NP_001138767.1	10
00003409	3	transcript variant X1	XM_005265316.1	XP_005265373.1	10
00003410	3	transcript variant X2	XM_005265317.1	XP_005265374.1	10
00003411	3	transcript variant X3	XR_245148.1	-	10

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