View NPC2 gene homepage

General information
Gene symbol NPC2
Gene name Niemann-Pick disease, type C2
Chromosome 14
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_007117.1
Transcript reference NM_006432.3
Exon/intron information NM_006432.3
Associated with diseases NPC-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Kirsten McKay and LOVD-team, but with Curator vacancy
Total number of public variants reported 3
Unique public DNA variants reported 2
Individuals with public variants 3
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated June 11, 2016
Version NPC2:160611

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
Homepage URL
External URL Orphanet
HGNC 14537
Entrez Gene 10577
PubMed articles NPC2
OMIM - Gene 601015
OMIM - Diseases NPC-2 (Niemann-Pick disease type C2 (NPC-2))
GeneCards NPC2
GeneTests NPC2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000131 14 Niemann-Pick disease, type C2 NM_006432.3 NP_006423.1 3

Copyright & disclaimer
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