NPTXR
neuronal pentraxin receptor
Summary
This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1449292738 | 22:39,218,661 | C/T | — | uncertain significance |
| rs747852955 | 22:39,218,675 | T/A | — | uncertain significance |
| rs376143434 | 22:39,218,679 | C/T | — | uncertain significance |
| rs925461793 | 22:39,218,700 | G/C | — | uncertain significance |
| rs770851355 | 22:39,218,706 | T/C | — | uncertain significance |
| rs1603244459 | 22:39,218,811 | T/C | — | uncertain significance |
| rs757005174 | 22:39,218,814 | C/A | — | uncertain significance |
| rs2518235251 | 22:39,218,834 | G/T | — | uncertain significance |
| rs771367258 | 22:39,219,171 | C/T | — | uncertain significance |
| rs2518235711 | 22:39,219,227 | T/C | — | uncertain significance |
| rs192164176 | 22:39,220,697 | C/G | regulatory region variant | — |
| rs375259496 | 22:39,222,542 | G/A | — | uncertain significance |
| rs758866290 | 22:39,222,600 | C/T | — | uncertain significance |
| rs780696214 | 22:39,222,606 | C/T | — | uncertain significance |
| rs34637063 | 22:39,222,627 | G/A | missense variant | — |
| rs368736692 | 22:39,222,678 | C/A | — | uncertain significance |
| rs755394676 | 22:39,222,702 | G/A | — | uncertain significance |
| rs768131103 | 22:39,222,707 | G/C | — | uncertain significance |
| rs181616480 | 22:39,224,312 | C/T | — | uncertain significance |
| rs145832617 | 22:39,224,357 | C/T | — | likely benign |
| rs111444671 | 22:39,236,170 | A/T | intron variant | — |
| rs1176234635 | 22:39,239,256 | C/T | — | uncertain significance |
| rs957267172 | 22:39,239,269 | C/T | — | uncertain significance |
| rs1282472067 | 22:39,239,279 | G/C | — | uncertain significance |
| rs1436832847 | 22:39,239,301 | G/C | — | uncertain significance |
| rs115826781 | 22:39,239,308 | A/G | — | uncertain significance |
| rs1166472395 | 22:39,239,328 | A/C | — | uncertain significance |
| rs764654952 | 22:39,239,340 | C/G | — | uncertain significance |
| rs2093134544 | 22:39,239,350 | C/G | — | uncertain significance |
| rs2518247629 | 22:39,239,352 | C/T | — | likely benign |
| rs1380076130 | 22:39,239,469 | T/C | — | uncertain significance |
| rs1435020171 | 22:39,239,479 | T/C | — | uncertain significance |
| rs770206274 | 22:39,239,481 | C/T | — | likely benign |
| rs2093134855 | 22:39,239,482 | T/G | — | uncertain significance |
| rs180925984 | 22:39,239,687 | C/T | synonymous variant | — |
| rs1225883262 | 22:39,239,695 | G/A | — | uncertain significance |
| rs1438323707 | 22:39,239,701 | G/T | — | uncertain significance |
| rs565646758 | 22:39,239,721 | C/G | — | uncertain significance |
| rs1413606126 | 22:39,239,728 | C/T | — | uncertain significance |
| rs1403919827 | 22:39,239,730 | A/G | — | uncertain significance |
| rs926956897 | 22:39,239,752 | C/T | — | uncertain significance |
| rs2518248406 | 22:39,239,764 | G/A | — | uncertain significance |
| rs12628473 | 22:39,240,717 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.