The NPC1 gene homepage

General information
Gene symbol NPC1
Gene name Niemann-Pick disease, type C1
Chromosome 18
Chromosomal band q11.2
Imprinted Unknown
Genomic reference NG_012795.1
Transcript reference NM_000271.4, XM_005258277.1, XM_005258278.2, XM_005258279.1
Associated with diseases NPC-1
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 265
Unique public DNA variants reported 28
Individuals with public variants 35
Hidden variants 90
Date created November 30, -0001
Date last updated September 28, 2016
Version NPC1:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:7897
Entrez Gene 4864
PubMed articles NPC1
OMIM - Gene 607623
OMIM - Diseases NPC-1 (Niemann-Pick disease type C1 (NPC-1))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00013071 18 Niemann-Pick disease, type C1 NM_000271.4 NP_000262.2 265
00039149 18 transcript variant X2 XM_005258278.2 XP_005258335.1 -
00039150 18 transcript variant X1 XM_005258277.1 XP_005258334.1 -
00039151 18 transcript variant X3 XM_005258279.1 XP_005258336.1 -