P3H4
prolyl 3-hydroxylase family member 4 (inactive)
Summary
This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs532282174 | 17:39,959,214 | C/T | — | uncertain significance |
| rs781896114 | 17:39,959,222 | G/A | — | uncertain significance |
| rs1555613748 | 17:39,959,572 | C/T | — | uncertain significance |
| rs574846777 | 17:39,959,602 | C/T | — | uncertain significance |
| rs1325757385 | 17:39,959,658 | G/A | — | uncertain significance |
| rs5820435 | 17:39,961,558 | A/G | — | — |
| rs782549075 | 17:39,964,131 | C/T | — | uncertain significance |
| rs782818872 | 17:39,964,191 | C/T | — | likely benign |
| rs2544404369 | 17:39,964,193 | C/T | — | uncertain significance |
| rs782189430 | 17:39,964,230 | T/C | — | uncertain significance |
| rs138564388 | 17:39,964,232 | C/T | — | uncertain significance |
| rs1185569090 | 17:39,964,235 | G/A | — | uncertain significance |
| rs782698241 | 17:39,965,997 | C/T | — | uncertain significance |
| rs781849704 | 17:39,966,009 | C/G | — | uncertain significance |
| rs782547590 | 17:39,966,012 | C/T | — | uncertain significance |
| rs1430628397 | 17:39,967,183 | C/T | — | uncertain significance |
| rs139974053 | 17:39,967,184 | G/A | — | uncertain significance |
| rs369845186 | 17:39,967,213 | G/T | — | uncertain significance |
| rs1263682089 | 17:39,967,216 | C/G | — | uncertain significance |
| rs2544410820 | 17:39,967,276 | A/G | — | uncertain significance |
| rs2544410857 | 17:39,967,286 | C/T | — | uncertain significance |
| rs371239589 | 17:39,967,445 | T/C | — | uncertain significance |
| rs782634156 | 17:39,967,446 | A/G | — | uncertain significance |
| rs782282402 | 17:39,967,448 | T/C | — | uncertain significance |
| rs2047730534 | 17:39,967,471 | C/G | — | uncertain significance |
| rs140054771 | 17:39,967,511 | G/A | — | uncertain significance |
| rs199832526 | 17:39,967,709 | G/C | — | uncertain significance |
| rs782381020 | 17:39,967,759 | G/C | — | uncertain significance |
| rs201256445 | 17:39,967,794 | G/T | — | uncertain significance |
| rs782530968 | 17:39,967,816 | G/T | — | uncertain significance |
| rs2544413978 | 17:39,967,825 | A/G | — | uncertain significance |
| rs782598221 | 17:39,967,830 | G/A | — | uncertain significance |
| rs781827205 | 17:39,967,908 | G/A | — | uncertain significance |
| rs374292116 | 17:39,968,036 | C/T | — | likely benign |
| rs782607420 | 17:39,968,047 | C/A | — | uncertain significance |
| rs781872433 | 17:39,968,059 | C/T | — | uncertain significance |
| rs782579300 | 17:39,968,161 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.