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 |
Active transcripts
|