SGCZ
sarcoglycan zeta
Summary
The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs778589933 | 8:13,947,995 | C/T | — | uncertain significance |
| rs371636241 | 8:13,948,020 | G/A | — | uncertain significance |
| rs149935102 | 8:13,948,082 | G/A | — | uncertain significance |
| rs144979012 | 8:13,948,092 | A/G | — | uncertain significance |
| rs758122469 | 8:13,948,121 | T/C | — | likely benign |
| rs1801661800 | 8:13,948,143 | A/G | — | uncertain significance |
| rs1162462447 | 8:13,959,906 | A/C | — | uncertain significance |
| rs2486121668 | 8:13,959,917 | T/C | — | uncertain significance |
| rs142136870 | 8:13,959,930 | C/G | — | uncertain significance |
| rs190598778 | 8:13,965,679 | C/A | — | uncertain significance |
| rs145213189 | 8:13,965,705 | G/A | — | uncertain significance |
| rs745428038 | 8:13,965,733 | C/T | — | uncertain significance |
| rs12675921 | 8:13,989,489 | G/A | intron variant | — |
| rs1804151424 | 8:14,022,134 | C/A | — | uncertain significance |
| rs7008726 | 8:14,067,889 | A/T | — | — |
| rs368665195 | 8:14,095,104 | T/C | — | likely benign |
| rs13263601 | 8:14,095,900 | A/C | intron variant | — |
| rs4567039 | 8:14,097,389 | C/T | — | — |
| rs9942785 | 8:14,097,948 | G/T | intron variant | — |
| rs9886428 | 8:14,113,816 | G/A | intron variant | — |
| rs13262285 | 8:14,125,920 | C/A | — | — |
| rs7814925 | 8:14,154,462 | C/G | intron variant | — |
| rs6990042 | 8:14,173,974 | G/A | — | — |
| rs929529810 | 8:14,181,705 | C/T | — | uncertain significance |
| rs538960560 | 8:14,210,588 | G/A | — | — |
| rs34269011 | 8:14,220,114 | C/T | intron variant | — |
| rs7006178 | 8:14,252,384 | G/C | intron variant | — |
| rs7465081 | 8:14,262,597 | A/T | — | — |
| rs73219758 | 8:14,279,446 | G/A | intron variant | — |
| rs541027705 | 8:14,298,197 | C/T | — | — |
| rs2410187 | 8:14,356,833 | G/A | intron variant | — |
| rs577303028 | 8:14,362,466 | T/C | — | — |
| rs1903595 | 8:14,389,481 | A/T | — | — |
| rs879211149 | 8:14,412,261 | T/G | — | uncertain significance |
| rs1281691059 | 8:14,412,273 | T/C | — | uncertain significance |
| rs201620785 | 8:14,412,299 | G/T | — | uncertain significance |
| rs149401406 | 8:14,412,303 | C/T | — | uncertain significance |
| rs769190048 | 8:14,412,304 | C/A | — | uncertain significance |
| rs753136540 | 8:14,412,328 | T/G | — | uncertain significance |
| rs1234244611 | 8:14,412,344 | C/A | — | uncertain significance |
| rs1253762546 | 8:14,412,407 | G/A | — | uncertain significance |
| rs4831606 | 8:14,421,587 | A/G | intron variant | — |
| rs7837164 | 8:14,465,681 | C/T | intron variant | — |
| rs73664412 | 8:14,486,839 | G/C | intron variant | — |
| rs73664420 | 8:14,504,788 | T/C | intron variant | — |
| rs11203649 | 8:14,517,294 | T/C | intron variant | — |
| rs11989868 | 8:14,550,156 | A/T | — | — |
| rs4831647 | 8:14,630,054 | A/G | intron variant | — |
| rs4427170 | 8:14,853,781 | A/C | — | — |
| rs62495393 | 8:14,861,986 | G/A | — | — |
| rs10503527 | 8:14,927,163 | C/T | intron variant | — |
| rs6987011 | 8:15,018,745 | T/A | intron variant | — |
| rs544255576 | 8:15,062,306 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.