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 |
Active transcripts
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