SEMA5B
semaphorin 5B
Summary
This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs145167874 | 3:122,629,033 | C/T | — | uncertain significance |
| rs189385964 | 3:122,629,701 | G/C | — | uncertain significance |
| rs372894044 | 3:122,629,731 | C/T | — | uncertain significance |
| rs749062365 | 3:122,629,751 | T/C | — | uncertain significance |
| rs193008221 | 3:122,629,761 | C/A | — | uncertain significance |
| rs2472430314 | 3:122,629,868 | G/C | — | uncertain significance |
| rs113593602 | 3:122,629,880 | A/G | — | uncertain significance |
| rs2303982 | 3:122,630,323 | T/G | — | benign |
| rs2303983 | 3:122,630,346 | C/T | — | benign |
| rs906193478 | 3:122,630,362 | T/C | — | likely benign |
| rs1196830855 | 3:122,630,784 | G/C | — | uncertain significance |
| rs2472437838 | 3:122,630,798 | C/G | — | uncertain significance |
| rs1937750347 | 3:122,630,877 | T/G | — | uncertain significance |
| rs376783901 | 3:122,630,907 | G/A | — | uncertain significance |
| rs1023882353 | 3:122,631,048 | T/C | — | uncertain significance |
| rs969600695 | 3:122,631,055 | T/A | — | uncertain significance |
| rs200481661 | 3:122,631,750 | C/T | — | uncertain significance |
| rs1261615705 | 3:122,631,777 | A/C | — | uncertain significance |
| rs548945722 | 3:122,631,779 | G/A | — | uncertain significance |
| rs770641183 | 3:122,631,837 | C/G | — | uncertain significance |
| rs901242692 | 3:122,631,851 | C/A | — | uncertain significance |
| rs377628106 | 3:122,631,855 | C/A | — | uncertain significance |
| rs1937830422 | 3:122,631,864 | T/C | — | uncertain significance |
| rs201282968 | 3:122,631,869 | G/C | — | uncertain significance |
| rs749978509 | 3:122,632,047 | G/T | — | uncertain significance |
| rs1937852209 | 3:122,632,070 | C/T | — | uncertain significance |
| rs553955053 | 3:122,632,121 | C/G | — | uncertain significance |
| rs761795926 | 3:122,632,122 | G/C | — | uncertain significance |
| rs1375189417 | 3:122,632,219 | G/C | — | uncertain significance |
| rs749287292 | 3:122,632,509 | G/C | — | uncertain significance |
| rs752644883 | 3:122,632,816 | G/A | — | uncertain significance |
| rs567986686 | 3:122,632,817 | C/T | — | uncertain significance |
| rs146618662 | 3:122,632,840 | G/A | — | uncertain significance |
| rs765034281 | 3:122,634,326 | T/G | — | uncertain significance |
| rs139633639 | 3:122,634,348 | G/C | — | uncertain significance |
| rs757738307 | 3:122,634,465 | G/A | — | uncertain significance |
| rs745947593 | 3:122,634,467 | A/C | — | uncertain significance |
| rs778780943 | 3:122,634,628 | C/A | — | uncertain significance |
| rs1576330587 | 3:122,634,631 | T/C | — | uncertain significance |
| rs555457414 | 3:122,634,650 | G/T | — | uncertain significance |
| rs199707337 | 3:122,634,684 | C/T | — | uncertain significance |
| rs2472477322 | 3:122,634,701 | C/G | — | uncertain significance |
| rs751844223 | 3:122,640,898 | G/A | — | uncertain significance |
| rs374056249 | 3:122,640,939 | G/A | — | uncertain significance |
| rs377737501 | 3:122,640,948 | G/A | — | uncertain significance |
| rs2472520933 | 3:122,641,152 | G/A | — | uncertain significance |
| rs774445660 | 3:122,641,161 | A/G | — | uncertain significance |
| rs2472522645 | 3:122,641,273 | C/T | — | uncertain significance |
| rs2472532800 | 3:122,642,492 | G/A | — | uncertain significance |
| rs746143361 | 3:122,642,546 | T/A | — | uncertain significance |
| rs143116501 | 3:122,642,571 | C/A | — | uncertain significance |
| rs9289210 | 3:122,643,356 | G/A | downstream gene variant | — |
| rs568213430 | 3:122,645,240 | C/T | — | uncertain significance |
| rs2472555973 | 3:122,645,272 | T/C | — | uncertain significance |
| rs755257920 | 3:122,645,347 | C/T | — | uncertain significance |
| rs370951942 | 3:122,645,348 | G/A | — | uncertain significance |
| rs777656387 | 3:122,645,356 | A/G | — | uncertain significance |
| rs1298892450 | 3:122,645,419 | G/A | — | uncertain significance |
| rs1051536939 | 3:122,645,426 | G/A | — | uncertain significance |
| rs374529756 | 3:122,646,735 | G/A | — | uncertain significance |
| rs2472569630 | 3:122,646,777 | G/A | — | uncertain significance |
| rs201401928 | 3:122,646,834 | C/T | — | uncertain significance |
| rs758363733 | 3:122,647,426 | C/T | — | likely benign |
| rs34231441 | 3:122,647,430 | G/A | — | benign |
| rs141697151 | 3:122,647,877 | G/A | — | uncertain significance |
| rs200299701 | 3:122,647,884 | C/T | — | uncertain significance |
| rs77612068 | 3:122,649,863 | A/G | upstream gene variant | — |
| rs146432514 | 3:122,662,308 | C/T | — | likely benign |
| rs200917583 | 3:122,680,016 | A/C | — | uncertain significance |
| rs750232395 | 3:122,680,085 | G/C | — | uncertain significance |
| rs1445609904 | 3:122,680,088 | G/C | — | uncertain significance |
| rs754457813 | 3:122,711,672 | A/C | — | — |
| rs9868873 | 3:122,730,910 | G/A | intron variant | — |
| rs7632505 | 3:122,738,307 | A/G | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.