SPECC1
sperm antigen with calponin homology and coiled-coil domains 1
Summary
The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4925065 | 17:19,914,546 | C/A | — | — |
| rs34848191 | 17:19,918,626 | G/T | intron variant | — |
| rs56142708 | 17:19,934,963 | A/C | regulatory region variant | — |
| rs8065337 | 17:19,941,879 | C/G | — | — |
| rs3909258 | 17:19,945,819 | C/T | — | — |
| rs17759083 | 17:19,963,605 | T/A | downstream gene variant | — |
| rs10083830 | 17:19,965,883 | G/A | intron variant | — |
| rs145771691 | 17:19,992,604 | G/A | intron variant | — |
| rs751442635 | 17:20,000,011 | G/T | — | uncertain significance |
| rs371567265 | 17:20,000,026 | G/A | — | uncertain significance |
| rs374712519 | 17:20,000,046 | G/C | — | uncertain significance |
| rs201157818 | 17:20,000,098 | C/T | — | uncertain significance |
| rs34370440 | 17:20,003,430 | A/G | intron variant | — |
| rs776257884 | 17:20,013,869 | G/A | — | uncertain significance |
| rs2544919015 | 17:20,013,873 | C/G | — | uncertain significance |
| rs181489620 | 17:20,021,119 | A/T | downstream gene variant | — |
| rs2013441 | 17:20,023,099 | G/A | intron variant | — |
| rs4925087 | 17:20,024,582 | A/C | intron variant | — |
| rs55705283 | 17:20,027,138 | G/C | — | — |
| rs140199646 | 17:20,107,657 | A/T | — | uncertain significance |
| rs373062828 | 17:20,107,667 | G/A | — | uncertain significance |
| rs190108325 | 17:20,107,730 | G/A | — | uncertain significance |
| rs35489815 | 17:20,107,762 | A/C | — | uncertain significance |
| rs754605781 | 17:20,107,783 | C/T | — | uncertain significance |
| rs769024624 | 17:20,107,829 | A/G | — | uncertain significance |
| rs2544699106 | 17:20,107,863 | G/C | — | uncertain significance |
| rs370838354 | 17:20,108,038 | A/G | — | uncertain significance |
| rs374184724 | 17:20,108,072 | A/T | — | uncertain significance |
| rs144644210 | 17:20,108,086 | G/C | — | uncertain significance |
| rs1402585968 | 17:20,108,105 | G/A | — | likely benign |
| rs1597968241 | 17:20,108,128 | T/G | — | uncertain significance |
| rs753900744 | 17:20,108,176 | G/A | — | uncertain significance |
| rs1228981385 | 17:20,108,223 | C/G | — | uncertain significance |
| rs371274703 | 17:20,108,227 | A/G | — | likely benign |
| rs760572663 | 17:20,108,243 | C/G | — | uncertain significance |
| rs763081560 | 17:20,108,273 | T/C | — | likely benign |
| rs2036678475 | 17:20,108,312 | G/A | — | uncertain significance |
| rs1441056738 | 17:20,108,314 | G/A | — | uncertain significance |
| rs375415234 | 17:20,108,362 | A/G | — | uncertain significance |
| rs2544707729 | 17:20,108,374 | A/G | — | uncertain significance |
| rs1023337883 | 17:20,108,450 | A/G | — | uncertain significance |
| rs367591049 | 17:20,108,455 | G/C | — | uncertain significance |
| rs202164673 | 17:20,108,476 | T/A | — | uncertain significance |
| rs370017898 | 17:20,108,626 | T/A | — | uncertain significance |
| rs61733787 | 17:20,108,711 | G/A | — | uncertain significance |
| rs751835751 | 17:20,108,749 | A/T | — | uncertain significance |
| rs746162258 | 17:20,108,767 | A/C | — | uncertain significance |
| rs777968410 | 17:20,108,848 | C/T | — | uncertain significance |
| rs572226219 | 17:20,108,894 | G/A | — | likely benign |
| rs2544715815 | 17:20,108,899 | A/G | — | uncertain significance |
| rs370723135 | 17:20,108,958 | G/A | — | uncertain significance |
| rs2544717134 | 17:20,108,992 | T/G | — | uncertain significance |
| rs375826466 | 17:20,109,016 | G/C | — | uncertain significance |
| rs2544718370 | 17:20,109,082 | A/G | — | uncertain significance |
| rs2036737730 | 17:20,109,090 | G/C | — | uncertain significance |
| rs780195507 | 17:20,109,097 | G/A | — | uncertain significance |
| rs2544718723 | 17:20,109,109 | A/G | — | likely pathogenic |
| rs1266498577 | 17:20,109,110 | T/C | — | uncertain significance |
| rs375386351 | 17:20,109,161 | A/G | — | uncertain significance |
| rs765486500 | 17:20,109,193 | G/A | — | uncertain significance |
| rs1173991430 | 17:20,109,204 | T/A | — | uncertain significance |
| rs151234509 | 17:20,130,759 | T/C | — | uncertain significance |
| rs144677564 | 17:20,135,075 | T/G | — | uncertain significance |
| rs145743421 | 17:20,135,693 | G/A | — | likely benign |
| rs753181693 | 17:20,149,273 | G/A | — | uncertain significance |
| rs976214232 | 17:20,149,312 | A/T | — | uncertain significance |
| rs764575084 | 17:20,149,373 | T/G | — | uncertain significance |
| rs765903879 | 17:20,149,379 | G/A | — | likely benign |
| rs771693569 | 17:20,156,869 | C/T | — | uncertain significance |
| rs374644443 | 17:20,160,811 | C/T | — | uncertain significance |
| rs146708525 | 17:20,160,893 | G/A | — | uncertain significance |
| rs778718188 | 17:20,163,561 | G/A | — | uncertain significance |
| rs141612737 | 17:20,171,900 | A/G | intron variant | — |
| rs192113322 | 17:20,199,825 | T/C | intron variant | — |
| rs2545422104 | 17:20,200,293 | T/G | — | uncertain significance |
| rs149445793 | 17:20,200,344 | A/G | — | uncertain significance |
| rs139428957 | 17:20,209,365 | G/A | — | likely benign |
| rs753642152 | 17:20,209,378 | G/C | — | uncertain significance |
| rs7223476 | 17:20,215,352 | T/G | — | benign |
| rs2041999344 | 17:20,217,331 | A/T | — | uncertain significance |
| rs760558434 | 17:20,217,355 | A/G | — | uncertain significance |
| rs530436980 | 17:20,217,374 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.