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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