SSPN
sarcospan
Summary
This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs121912617 | 12:26,275,297 | G/C | missense variant | affects |
| rs10771264 | 12:26,316,358 | A/T | — | — |
| rs58747679 | 12:26,348,304 | T/C | regulatory region variant | — |
| rs1399627974 | 12:26,348,640 | G/C | — | uncertain significance |
| rs200655450 | 12:26,348,668 | C/G | — | likely benign |
| rs988209505 | 12:26,348,697 | A/G | — | uncertain significance |
| rs551694400 | 12:26,348,738 | C/T | — | uncertain significance |
| rs757400687 | 12:26,348,804 | G/A | — | uncertain significance |
| rs748996865 | 12:26,348,813 | G/A | — | uncertain significance |
| rs2539983656 | 12:26,348,831 | A/G | — | uncertain significance |
| rs755987 | 12:26,367,359 | A/G | intron variant | — |
| rs148183556 | 12:26,377,285 | A/C | — | uncertain significance |
| rs767642817 | 12:26,377,287 | G/A | — | uncertain significance |
| rs1945220867 | 12:26,383,668 | C/G | — | uncertain significance |
| rs34055748 | 12:26,383,678 | C/T | — | benign |
| rs189138467 | 12:26,383,680 | G/T | — | uncertain significance |
| rs532345182 | 12:26,383,720 | C/T | — | uncertain significance |
| rs754045412 | 12:26,383,752 | C/G | — | uncertain significance |
| rs201617172 | 12:26,383,755 | G/A | — | uncertain significance |
| rs147508239 | 12:26,383,790 | G/A | — | benign |
| rs117506538 | 12:26,383,811 | C/T | — | benign |
| rs1474220170 | 12:26,383,818 | G/A | — | uncertain significance |
| rs200190223 | 12:26,383,822 | C/T | — | uncertain significance |
| rs745893300 | 12:26,383,893 | G/A | — | uncertain significance |
| rs377309867 | 12:26,383,963 | G/A | — | uncertain significance |
| rs151230889 | 12:26,383,978 | C/T | — | uncertain significance |
| rs1392946076 | 12:26,383,986 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.