The SMPD1 gene homepage

General information
Gene symbol SMPD1
Gene name sphingomyelin phosphodiesterase 1, acid lysosomal
Chromosome 11
Chromosomal band p15.4-p15.1
Imprinted Unknown
Genomic reference NG_011780.1
Transcript reference NM_000543.4, NM_001007593.2, XM_005253075.2
Associated with diseases ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 105
Unique public DNA variants reported 16
Individuals with public variants 35
Hidden variants 12
Date created November 30, -0001
Date last updated September 28, 2016
Version SMPD1:160928

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:11120
Entrez Gene 6609
PubMed articles SMPD1
OMIM - Gene 607608
OMIM - Diseases Niemann-Pick disease, type A
Niemann-Pick disease, type B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00026812 11 transcript variant 1 NM_000543.4 NP_000534.3 105
00026813 11 transcript variant 2 NM_001007593.2 NP_001007594.2 105
00033934 11 transcript variant X2 XM_005253075.2 XP_005253132.1 -