LOVD NPC2 homepage

General information
Gene name Niemann-Pick disease, type C2
Gene symbol NPC2
Chromosome Location 14q24.3
Database location grenada.lumc.nl
Curator Kirsten McKay and LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the NPC2 database
Date of creation April 29, 2010
Last update January 05, 2013
Version NPC2 130105
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007117.1
Transcript refseq ID NM_006432.3
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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NOTE The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the NPC2 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
Homepage http://www.LOVD.nl/NPC2
HGNC 14537
Entrez Gene 10577
OMIM - Gene 601015
OMIM - Disease Niemann-pick disease, type C2 (NP-C2)
UniProtKB (SwissProt/TrEMBL) P61916
HGMD NPC2
GeneCards NPC2
GeneTests NPC2
External link Orphanet

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.