NPC2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NPC2
Gene name Niemann-Pick disease, type C2
Chromosome 14
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NC_000014.8
Transcript reference NM_006432.3, XM_005267270.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013

Links to other resources
HGNC 14537
Entrez Gene 10577
PubMed articles NPC2
OMIM - Gene 601015
HGMD NPC2
GeneCards NPC2
GeneTests NPC2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000999 14 transcript variant X1 XM_005267270.1 XP_005267327.1 0
00001000 14 Niemann-Pick disease, type C2 NM_006432.3 NP_006423.1 0


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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium