SEC16A
SEC16 homolog A, endoplasmic reticulum export factor
Summary
This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013]
Known Variants192 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1836213038 | 9:139,336,214 | A/G | — | uncertain significance |
| rs748340621 | 9:139,336,256 | C/T | — | uncertain significance |
| rs45568431 | 9:139,336,261 | G/A | — | benign |
| rs769501446 | 9:139,338,303 | G/C | — | uncertain significance |
| rs754228569 | 9:139,338,343 | C/T | — | uncertain significance |
| rs1425423905 | 9:139,339,520 | C/G | — | uncertain significance |
| rs1415737578 | 9:139,339,521 | T/A | — | uncertain significance |
| rs370453872 | 9:139,339,530 | G/C | — | uncertain significance |
| rs529911977 | 9:139,339,557 | G/A | — | uncertain significance |
| rs376539781 | 9:139,339,559 | G/A | — | uncertain significance |
| rs13301660 | 9:139,340,802 | C/T | intron variant | — |
| rs546048494 | 9:139,341,359 | C/T | — | uncertain significance |
| rs201162968 | 9:139,341,700 | T/C | — | conflicting classifications of pathogenicity |
| rs765940476 | 9:139,341,720 | G/C | — | uncertain significance |
| rs375952382 | 9:139,341,721 | C/T | — | uncertain significance |
| rs374154839 | 9:139,341,731 | G/A | — | likely benign |
| rs554187066 | 9:139,341,748 | C/T | — | uncertain significance |
| rs199835518 | 9:139,342,047 | G/A | — | uncertain significance |
| rs370335440 | 9:139,342,077 | G/A | — | uncertain significance |
| rs35292575 | 9:139,342,083 | G/C | — | uncertain significance |
| rs754378226 | 9:139,345,723 | C/T | — | likely benign |
| rs774356729 | 9:139,345,761 | C/T | — | uncertain significance |
| rs370580753 | 9:139,345,767 | C/G | — | uncertain significance |
| rs1367620366 | 9:139,345,772 | G/A | — | uncertain significance |
| rs371968605 | 9:139,345,827 | G/A | — | uncertain significance |
| rs558511058 | 9:139,345,838 | T/C | — | uncertain significance |
| rs45519739 | 9:139,345,847 | G/A | — | benign |
| rs1838158297 | 9:139,347,942 | G/T | — | uncertain significance |
| rs1167568764 | 9:139,348,680 | C/T | — | likely benign |
| rs201805134 | 9:139,348,770 | G/A | — | likely benign |
| rs749120025 | 9:139,348,776 | G/A | — | uncertain significance |
| rs774548304 | 9:139,350,179 | C/T | — | uncertain significance |
| rs58268999 | 9:139,350,208 | G/A | — | benign |
| rs368479046 | 9:139,350,218 | C/T | — | uncertain significance |
| rs369788591 | 9:139,350,560 | G/C | — | uncertain significance |
| rs529797011 | 9:139,350,618 | T/A | — | uncertain significance |
| rs372972959 | 9:139,350,627 | G/C | — | likely benign |
| rs58831516 | 9:139,352,043 | C/T | — | benign |
| rs1485167995 | 9:139,353,944 | A/G | — | uncertain significance |
| rs375857850 | 9:139,353,946 | A/G | — | likely benign |
| rs777876319 | 9:139,354,002 | T/C | — | uncertain significance |
| rs35857370 | 9:139,354,097 | G/A | intron variant | — |
| rs774334239 | 9:139,354,248 | C/T | — | uncertain significance |
| rs372295762 | 9:139,354,334 | G/A | — | benign |
| rs773116220 | 9:139,354,502 | C/T | — | uncertain significance |
| rs73670275 | 9:139,355,621 | G/A | — | benign |
| rs1204504362 | 9:139,355,681 | G/C | — | uncertain significance |
| rs55824202 | 9:139,357,273 | A/T | intron variant | — |
| rs373377796 | 9:139,357,377 | C/G | — | uncertain significance |
| rs376350415 | 9:139,357,389 | C/T | — | uncertain significance |
| rs1839697356 | 9:139,357,398 | T/C | — | uncertain significance |
| rs746069224 | 9:139,357,401 | C/T | — | likely benign |
| rs2539712915 | 9:139,357,913 | A/T | — | uncertain significance |
| rs779861496 | 9:139,357,979 | A/G | — | uncertain significance |
| rs12551527 | 9:139,358,425 | C/G | intron variant | — |
| rs764773070 | 9:139,359,000 | T/C | — | uncertain significance |
| rs556126586 | 9:139,360,446 | G/A | — | uncertain significance |
| rs574310451 | 9:139,360,447 | G/A | — | uncertain significance |
| rs199501843 | 9:139,360,448 | G/A | — | likely benign |
| rs1840097631 | 9:139,360,455 | T/C | — | uncertain significance |
| rs561420041 | 9:139,360,470 | G/A | — | uncertain significance |
| rs2539792793 | 9:139,360,510 | A/G | — | uncertain significance |
| rs540412966 | 9:139,360,519 | G/C | — | uncertain significance |
| rs960694744 | 9:139,360,539 | G/A | — | uncertain significance |
| rs756423341 | 9:139,360,551 | G/A | — | uncertain significance |
| rs760431602 | 9:139,360,570 | G/A | — | uncertain significance |
| rs1306370751 | 9:139,360,585 | G/C | — | uncertain significance |
| rs116048441 | 9:139,360,719 | G/T | — | benign |
| rs770640981 | 9:139,360,730 | A/G | — | uncertain significance |
| rs1340690750 | 9:139,360,763 | G/T | — | uncertain significance |
| rs775462972 | 9:139,360,766 | C/T | — | uncertain significance |
| rs374231100 | 9:139,360,786 | G/A | — | uncertain significance |
| rs1840158415 | 9:139,360,805 | T/C | — | uncertain significance |
| rs377554237 | 9:139,360,810 | C/T | — | uncertain significance |
| rs753137789 | 9:139,360,811 | G/A | — | uncertain significance |
| rs372361919 | 9:139,360,812 | G/A | — | likely benign |
| rs947192655 | 9:139,360,831 | G/A | — | uncertain significance |
| rs2539807158 | 9:139,360,867 | C/A | — | uncertain significance |
| rs200813257 | 9:139,360,910 | C/T | — | benign |
| rs201659618 | 9:139,361,472 | C/T | — | uncertain significance |
| rs772546770 | 9:139,361,517 | C/T | — | uncertain significance |
| rs777965887 | 9:139,361,533 | G/T | — | uncertain significance |
| rs140009539 | 9:139,362,877 | G/A | — | likely benign |
| rs370969472 | 9:139,362,909 | C/T | — | uncertain significance |
| rs763056662 | 9:139,366,490 | C/T | — | uncertain significance |
| rs755385943 | 9:139,366,491 | G/A | — | uncertain significance |
| rs150877534 | 9:139,366,514 | G/A | — | uncertain significance |
| rs36101132 | 9:139,367,566 | G/A | intron variant | — |
| rs373058731 | 9:139,368,512 | G/A | — | uncertain significance |
| rs199822604 | 9:139,368,580 | C/T | — | uncertain significance |
| rs749566583 | 9:139,368,592 | T/A | — | uncertain significance |
| rs1841295169 | 9:139,368,625 | G/A | — | uncertain significance |
| rs759141167 | 9:139,368,704 | C/A | — | uncertain significance |
| rs1221834910 | 9:139,368,718 | G/C | — | uncertain significance |
| rs551567130 | 9:139,368,784 | T/C | — | uncertain significance |
| rs201172869 | 9:139,368,802 | G/A | — | uncertain significance |
| rs1456647638 | 9:139,368,892 | T/C | — | uncertain significance |
| rs553149111 | 9:139,368,905 | C/T | — | uncertain significance |
| rs376001506 | 9:139,368,925 | G/A | — | uncertain significance |
| rs3812594 | 9:139,368,953 | G/A | — | benign |
Showing 100 of 192 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.