SEMA6D
semaphorin 6D
Summary
Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010]
Known Variants131 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12914084 | 15:47,502,351 | T/C | intron variant | — |
| rs12903078 | 15:47,503,469 | G/A | intron variant | — |
| rs12442330 | 15:47,504,742 | T/C | intron variant | — |
| rs78185271 | 15:47,511,936 | G/C | intron variant | — |
| rs2860049 | 15:47,515,395 | G/T | intron variant | — |
| rs11853760 | 15:47,518,372 | T/A | intron variant | — |
| rs66759488 | 15:47,577,451 | G/A | intron variant | — |
| rs1378214 | 15:47,579,004 | T/G | — | — |
| rs6493271 | 15:47,613,593 | T/C | intron variant | — |
| rs489692 | 15:47,639,354 | C/T | intron variant | — |
| rs1486900 | 15:47,642,886 | G/T | intron variant | — |
| rs665751 | 15:47,644,963 | T/C | intron variant | — |
| rs73403005 | 15:47,645,174 | A/G | intron variant | — |
| rs74011415 | 15:47,660,194 | G/A | intron variant | — |
| rs182402741 | 15:47,660,677 | A/T | intron variant | — |
| rs281280 | 15:47,661,369 | G/A | intron variant | — |
| rs12913596 | 15:47,663,870 | G/A | intron variant | — |
| rs281264 | 15:47,675,569 | G/A | regulatory region variant | — |
| rs35534970 | 15:47,675,585 | G/A | regulatory region variant | — |
| rs7174904 | 15:47,676,110 | C/T | intron variant | — |
| rs7175414 | 15:47,676,200 | G/A | intron variant | — |
| rs6493275 | 15:47,676,579 | A/T | regulatory region variant | — |
| rs12917367 | 15:47,677,087 | G/T | — | — |
| rs7166534 | 15:47,678,132 | T/C | intron variant | — |
| rs118004210 | 15:47,678,873 | G/A | intron variant | — |
| rs4485292 | 15:47,678,898 | G/A | intron variant | — |
| rs8032333 | 15:47,680,567 | A/G | regulatory region variant | — |
| rs35473814 | 15:47,680,662 | G/A | regulatory region variant | — |
| rs34794623 | 15:47,680,801 | C/A | regulatory region variant | — |
| rs35175834 | 15:47,680,815 | G/A | regulatory region variant | — |
| rs8034190 | 15:47,681,367 | G/T | — | — |
| rs8033799 | 15:47,681,384 | A/C | intron variant | — |
| rs12907546 | 15:47,684,280 | G/A | intron variant | — |
| rs34488670 | 15:47,684,936 | T/C | downstream gene variant | — |
| rs1025143 | 15:47,685,059 | T/C | downstream gene variant | — |
| rs1908796 | 15:47,687,791 | G/C | coding sequence variant | — |
| rs281315 | 15:47,697,078 | G/A | intron variant | — |
| rs281222 | 15:47,715,996 | A/G | intron variant | — |
| rs12439443 | 15:47,733,445 | G/A | intron variant | — |
| rs11857221 | 15:47,749,434 | C/A | intron variant | — |
| rs281323 | 15:47,754,027 | G/A | regulatory region variant | — |
| rs1656614 | 15:47,800,513 | C/T | — | — |
| rs8027136 | 15:47,839,785 | G/C | — | — |
| rs17323656 | 15:47,848,309 | G/C | upstream gene variant | — |
| rs117480223 | 15:47,869,716 | A/G | intron variant | — |
| rs9646181 | 15:47,873,172 | C/T | intron variant | — |
| rs8043206 | 15:47,886,702 | C/A | — | — |
| rs1369633 | 15:47,886,974 | C/A | intron variant | — |
| rs1898111 | 15:47,892,298 | G/C | — | — |
| rs1435757 | 15:47,895,902 | C/A | downstream gene variant | — |
| rs16959783 | 15:47,896,550 | C/T | intron variant | — |
| rs10152500 | 15:47,901,737 | T/C | upstream gene variant | — |
| rs74014029 | 15:47,903,174 | T/G | regulatory region variant | — |
| rs1529883 | 15:47,916,872 | G/C | intron variant | — |
| rs12899451 | 15:47,920,137 | A/G | intron variant | — |
| rs7163692 | 15:47,932,453 | C/G | intron variant | — |
| rs1369636 | 15:47,944,882 | A/G | intron variant | — |
| rs12591073 | 15:47,947,650 | T/C | intron variant | — |
| rs2573571 | 15:47,951,141 | G/A | intron variant | — |
| rs1224675 | 15:47,952,613 | G/A | intron variant | — |
| rs8028579 | 15:48,005,470 | G/T | intron variant | — |
| rs28420942 | 15:48,009,488 | G/A | regulatory region variant | — |
| rs13329140 | 15:48,050,577 | G/A | intron variant | — |
| rs201871061 | 15:48,052,531 | G/A | — | uncertain significance |
| rs201777640 | 15:48,052,588 | G/A | — | uncertain significance |
| rs1866501 | 15:48,052,595 | A/C | — | benign |
| rs200866177 | 15:48,053,367 | C/G | — | uncertain significance |
| rs147211657 | 15:48,053,374 | G/T | — | uncertain significance |
| rs1478824488 | 15:48,053,382 | G/C | — | uncertain significance |
| rs2511236441 | 15:48,053,561 | C/G | — | uncertain significance |
| rs1228457145 | 15:48,053,569 | G/A | — | uncertain significance |
| rs575377637 | 15:48,053,872 | A/G | — | likely benign |
| rs2511242038 | 15:48,053,889 | T/C | — | uncertain significance |
| rs771629163 | 15:48,054,471 | G/A | — | uncertain significance |
| rs148533867 | 15:48,054,473 | A/T | — | likely benign |
| rs775674496 | 15:48,055,267 | G/A | — | uncertain significance |
| rs1174025030 | 15:48,055,273 | T/A | — | uncertain significance |
| rs867652868 | 15:48,056,102 | G/A | — | uncertain significance |
| rs2511282305 | 15:48,056,117 | A/G | — | uncertain significance |
| rs369125941 | 15:48,056,186 | T/G | — | uncertain significance |
| rs3743279 | 15:48,056,219 | A/G | — | benign |
| rs200646071 | 15:48,056,368 | C/T | — | likely benign |
| rs2511285917 | 15:48,056,384 | G/T | — | uncertain significance |
| rs370414740 | 15:48,056,422 | A/G | — | likely benign |
| rs145073310 | 15:48,056,433 | G/T | — | benign |
| rs142096314 | 15:48,056,856 | C/T | — | likely benign |
| rs1364345145 | 15:48,056,936 | A/T | — | uncertain significance |
| rs2511298250 | 15:48,056,980 | A/G | — | uncertain significance |
| rs746940650 | 15:48,057,092 | G/A | — | likely benign |
| rs1555428181 | 15:48,057,112 | C/T | — | uncertain significance |
| rs756494796 | 15:48,057,117 | G/A | — | uncertain significance |
| rs745474310 | 15:48,057,141 | A/G | — | uncertain significance |
| rs534298453 | 15:48,057,216 | G/A | — | uncertain significance |
| rs754298259 | 15:48,057,243 | A/C | — | uncertain significance |
| rs532598 | 15:48,058,071 | G/A | — | benign |
| rs759173440 | 15:48,058,160 | A/G | — | likely benign |
| rs145652546 | 15:48,058,163 | C/T | — | uncertain significance |
| rs777452290 | 15:48,058,178 | C/T | — | uncertain significance |
| rs1193020099 | 15:48,058,373 | G/A | — | uncertain significance |
| rs139127203 | 15:48,060,780 | A/T | — | uncertain significance |
Showing 100 of 131 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.