PUDP
pseudouridine 5'-phosphatase
Summary
This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7471907 | X:6,827,042 | T/C | intergenic variant | — |
| rs5935065 | X:6,885,254 | C/T | intergenic variant | — |
| rs5979866 | X:6,905,454 | T/C | upstream gene variant | — |
| rs5935876 | X:6,922,078 | G/C | — | — |
| rs10458 | X:6,968,011 | A/G | 3 prime UTR variant | — |
| rs202174578 | X:6,968,344 | T/C | — | uncertain significance |
| rs752120998 | X:6,968,408 | T/C | — | uncertain significance |
| rs757443612 | X:6,975,775 | T/C | — | likely benign |
| rs1930937197 | X:6,995,298 | C/T | — | uncertain significance |
| rs200511647 | X:6,995,395 | G/A | — | uncertain significance |
| rs199668948 | X:6,995,410 | C/T | — | uncertain significance |
| rs1205101138 | X:6,995,448 | G/A | — | uncertain significance |
| rs2518399102 | X:6,995,464 | G/A | — | uncertain significance |
| rs377245383 | X:6,995,480 | T/A | — | uncertain significance |
| rs200144671 | X:7,023,671 | C/T | — | likely benign |
| rs201478475 | X:7,023,672 | G/A | — | uncertain significance |
| rs781571930 | X:7,023,710 | T/C | — | likely benign |
| rs1350874670 | X:7,023,770 | C/T | — | likely benign |
| rs374501713 | X:7,023,831 | T/G | — | uncertain significance |
| rs753120243 | X:7,023,859 | C/G | — | uncertain significance |
| rs4830608 | X:7,031,065 | G/A | coding sequence variant | — |
| rs374016250 | X:7,066,112 | T/C | — | uncertain significance |
| rs1569174011 | X:7,066,133 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.