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Labor Staber Humangenetik

nucleotide binding oligomerization domain containing 2 (NOD2)

LOVD v.3.0 Build 16 [ Current LOVD status ]
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Curators: Admin, Florian Bayersdorfer, Elisabeth Ohmann and Sabine Heber

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General information
Gene symbol	NOD2
Gene name	nucleotide binding oligomerization domain containing 2
Chromosome	16
Chromosomal band	q12.1
Imprinted	Unknown
Genomic reference	LRG_177
Transcript reference	NM_022162.1
Associated with diseases	BLAUS, YAOS
Citation reference(s)	-
Curators (4)	Admin, Florian Bayersdorfer, Elisabeth Ohmann and Sabine Heber
Total number of public variants reported	1
Unique public DNA variants reported	1
Individuals with public variants	0
Hidden variants	0
Date created	October 08, 2020
Date last updated	October 08, 2020
Version	NOD2:201008

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	5331
Entrez Gene	64127
PubMed articles	NOD2
OMIM - Gene	605956
OMIM - Diseases	BLAUS (BLAU SYNDROME) YAOS (YAO SYNDROME)
HGMD	NOD2
GeneCards	NOD2

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000057	16	nucleotide-binding oligomerization domain containing 2	NM_022162.1	NP_071445.1	1

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