The PRPS1 gene homepage
| General information |
| Gene symbol |
PRPS1 |
| Gene name |
phosphoribosyl pyrophosphate synthetase 1 |
| Chromosome |
X |
| Chromosomal band |
q22.3 |
| Imprinted |
Unknown |
| Genomic reference |
LRG_264 |
| Transcript reference |
NM_001204402.1, NM_002764.3 |
| Associated with diseases |
Arts, CMTX-5, DFNX-1, ID, superactivity, phosphoribosylpyrophosphate synthetase |
| Citation reference(s) |
- |
| Curators (1) |
Johan T. den Dunnen |
| Total number of public variants reported |
3 |
| Unique public DNA variants reported |
1 |
| Individuals with public variants |
3 |
| Hidden variants |
- |
| Date created |
November 30, -0001 |
| Date last updated |
September 20, 2016 |
| Version |
PRPS1:160920 |
Active transcripts
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