NPC1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NPC1
Gene name Niemann-Pick disease, type C1
Chromosome 18
Chromosomal band q11.2
Imprinted Unknown
Genomic reference NC_000018.9
Transcript reference NM_000271.4, XM_005258277.1, XM_005258278.1, XM_005258279.1, XM_005258280.1
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 7897
Entrez Gene 4864
PubMed articles NPC1
OMIM - Gene 607623
HGMD NPC1
GeneCards NPC1
GeneTests NPC1


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000994 18 transcript variant X3 XM_005258279.1 XP_005258336.1 0
00000995 18 transcript variant X1 XM_005258277.1 XP_005258334.1 0
00000996 18 transcript variant X4 XM_005258280.1 XP_005258337.1 0
00000997 18 Niemann-Pick disease, type C1 NM_000271.4 NP_000262.2 0
00000998 18 transcript variant X2 XM_005258278.1 XP_005258335.1 0


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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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