SMG6
SMG6 nonsense mediated mRNA decay factor
Summary
This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]
Known Variants156 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs371827551 | 17:1,964,805 | G/A | — | uncertain significance |
| rs376525214 | 17:1,964,815 | C/G | — | uncertain significance |
| rs141226599 | 17:1,964,826 | C/T | — | uncertain significance |
| rs146523021 | 17:1,968,369 | T/C | — | uncertain significance |
| rs140993966 | 17:1,968,376 | C/T | — | likely benign |
| rs778440814 | 17:1,968,769 | C/T | — | uncertain significance |
| rs1198816168 | 17:1,968,794 | C/T | — | uncertain significance |
| rs2543625986 | 17:1,968,848 | G/A | — | uncertain significance |
| rs746582419 | 17:1,968,886 | C/T | — | uncertain significance |
| rs201641597 | 17:1,968,926 | G/A | — | uncertain significance |
| rs761191898 | 17:1,968,936 | C/G | — | uncertain significance |
| rs766036296 | 17:1,968,956 | C/T | — | uncertain significance |
| rs2232487 | 17:1,968,967 | T/C | — | uncertain significance |
| rs8068234 | 17:1,970,269 | G/A | regulatory region variant | — |
| rs2131704 | 17:1,970,898 | C/G | — | — |
| rs2543653563 | 17:1,972,119 | G/A | — | uncertain significance |
| rs144810784 | 17:1,972,183 | C/T | — | benign |
| rs61741980 | 17:1,972,221 | A/G | — | uncertain significance |
| rs76195598 | 17:1,974,511 | A/T | regulatory region variant | — |
| rs9901671 | 17:1,978,484 | T/C | intron variant | — |
| rs9303241 | 17:1,978,963 | T/A | regulatory region variant | — |
| rs4790311 | 17:1,979,188 | T/C | regulatory region variant | — |
| rs12952051 | 17:1,982,790 | C/G | — | — |
| rs9908259 | 17:1,983,106 | C/T | intron variant | — |
| rs768254657 | 17:1,985,128 | C/A | — | uncertain significance |
| rs2543745824 | 17:1,985,175 | C/G | — | uncertain significance |
| rs141163639 | 17:1,985,204 | T/C | — | uncertain significance |
| rs58801957 | 17:1,985,220 | C/T | — | benign |
| rs761833872 | 17:1,989,065 | A/G | — | uncertain significance |
| rs4790873 | 17:1,994,966 | G/T | intron variant | — |
| rs9906546 | 17:1,995,614 | C/G | intron variant | — |
| rs4061659 | 17:1,997,444 | G/C | intron variant | — |
| rs118170056 | 17:2,000,533 | C/T | intron variant | — |
| rs6503245 | 17:2,003,208 | G/A | intron variant | — |
| rs9915112 | 17:2,007,826 | A/G | downstream gene variant | — |
| rs3760232 | 17:2,014,849 | G/A | intron variant | — |
| rs2641438 | 17:2,017,786 | C/G | intron variant | — |
| rs8072532 | 17:2,045,273 | G/T | — | — |
| rs8064885 | 17:2,047,564 | G/A | intron variant | — |
| rs6503293 | 17:2,048,611 | G/C | — | — |
| rs2873195 | 17:2,064,702 | A/C | — | — |
| rs4790881 | 17:2,068,932 | C/A | intron variant | — |
| rs56209296 | 17:2,069,179 | A/G | regulatory region variant | — |
| rs1227471197 | 17:2,075,957 | C/T | — | uncertain significance |
| rs1286113218 | 17:2,076,040 | A/G | — | uncertain significance |
| rs370985738 | 17:2,076,064 | G/A | — | uncertain significance |
| rs191617249 | 17:2,076,084 | C/G | — | uncertain significance |
| rs57130712 | 17:2,089,035 | A/G | intron variant | — |
| rs7225623 | 17:2,089,548 | T/A | — | — |
| rs2071998003 | 17:2,089,991 | T/A | — | uncertain significance |
| rs2544394168 | 17:2,090,045 | G/A | — | uncertain significance |
| rs749623828 | 17:2,090,062 | G/A | — | uncertain significance |
| rs775313613 | 17:2,090,074 | G/A | — | uncertain significance |
| rs2072001447 | 17:2,090,087 | C/T | — | uncertain significance |
| rs140100252 | 17:2,091,695 | T/C | — | uncertain significance |
| rs199692074 | 17:2,091,788 | C/T | — | uncertain significance |
| rs139528710 | 17:2,091,789 | G/A | — | uncertain significance |
| rs1002135 | 17:2,097,583 | T/G | intron variant | — |
| rs17761723 | 17:2,107,090 | C/T | downstream gene variant | — |
| rs2281727 | 17:2,117,945 | A/C | — | — |
| rs1231206 | 17:2,125,605 | G/A | intron variant | — |
| rs216172 | 17:2,126,504 | G/A | — | — |
| rs4790887 | 17:2,130,592 | C/T | — | — |
| rs9914266 | 17:2,133,250 | T/C | upstream gene variant | — |
| rs7217226 | 17:2,136,065 | T/G | intron variant | — |
| rs2169356 | 17:2,138,016 | A/C | — | — |
| rs554569364 | 17:2,139,839 | A/G | — | uncertain significance |
| rs368650142 | 17:2,139,842 | C/T | — | uncertain significance |
| rs10852932 | 17:2,143,460 | G/A | — | — |
| rs11078884 | 17:2,145,193 | T/C | regulatory region variant | — |
| rs112258894 | 17:2,157,817 | C/T | intron variant | — |
| rs57307236 | 17:2,159,502 | A/G | intron variant | — |
| rs9891227 | 17:2,164,311 | G/A | intron variant | — |
| rs576185956 | 17:2,167,393 | A/G | — | — |
| rs170041 | 17:2,170,216 | C/T | regulatory region variant | — |
| rs72819571 | 17:2,170,501 | G/C | — | — |
| rs17761864 | 17:2,171,637 | C/T | — | — |
| rs188043700 | 17:2,180,307 | T/G | intron variant | — |
| rs4790323 | 17:2,181,658 | A/T | — | — |
| rs1489053633 | 17:2,185,951 | C/T | — | uncertain significance |
| rs757018579 | 17:2,186,011 | G/A | — | uncertain significance |
| rs1322680806 | 17:2,186,018 | G/C | — | uncertain significance |
| rs199776644 | 17:2,186,071 | C/T | — | uncertain significance |
| rs1597781905 | 17:2,186,128 | T/C | — | uncertain significance |
| rs936203498 | 17:2,187,007 | T/A | — | uncertain significance |
| rs216191 | 17:2,188,639 | C/G | — | — |
| rs432200 | 17:2,191,960 | A/G | intron variant | — |
| rs12941836 | 17:2,194,874 | C/G | intron variant | — |
| rs775899118 | 17:2,200,578 | T/C | — | uncertain significance |
| rs2544858545 | 17:2,200,624 | C/G | — | uncertain significance |
| rs374114738 | 17:2,200,631 | T/C | — | uncertain significance |
| rs216199 | 17:2,200,871 | C/G | — | — |
| rs565298317 | 17:2,201,177 | G/T | — | uncertain significance |
| rs780560567 | 17:2,201,301 | C/G | — | uncertain significance |
| rs748444794 | 17:2,201,315 | G/C | — | uncertain significance |
| rs138966738 | 17:2,201,323 | C/T | — | uncertain significance |
| rs216197 | 17:2,201,944 | A/G | upstream gene variant | — |
| rs2544866571 | 17:2,202,211 | C/A | — | uncertain significance |
| rs2544867177 | 17:2,202,290 | C/G | — | uncertain significance |
| rs779382943 | 17:2,202,291 | G/A | — | uncertain significance |
Showing 100 of 156 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.