NSMAF
neutral sphingomyelinase activation associated factor
Summary
This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs190554965 | 8:59,496,682 | A/G | — | uncertain significance |
| rs965697159 | 8:59,499,079 | G/A | — | uncertain significance |
| rs533202658 | 8:59,499,106 | G/C | — | uncertain significance |
| rs976225018 | 8:59,499,143 | C/T | — | uncertain significance |
| rs2536212824 | 8:59,500,215 | G/T | — | uncertain significance |
| rs371665233 | 8:59,500,250 | C/T | — | uncertain significance |
| rs779072286 | 8:59,500,251 | C/T | — | uncertain significance |
| rs200523234 | 8:59,501,137 | A/C | coding sequence variant | — |
| rs751774370 | 8:59,502,078 | T/C | — | uncertain significance |
| rs1805986320 | 8:59,502,600 | C/T | — | uncertain significance |
| rs7826603 | 8:59,506,187 | G/C | — | — |
| rs781440282 | 8:59,508,141 | C/G | — | uncertain significance |
| rs774772882 | 8:59,508,162 | T/C | — | uncertain significance |
| rs11994937 | 8:59,508,580 | C/T | regulatory region variant | — |
| rs189309686 | 8:59,509,355 | C/G | — | — |
| rs767295419 | 8:59,510,033 | C/T | — | uncertain significance |
| rs1421895617 | 8:59,510,059 | A/C | — | uncertain significance |
| rs16923594 | 8:59,510,868 | T/C | intron variant | — |
| rs1314555237 | 8:59,512,346 | C/A | — | uncertain significance |
| rs765849706 | 8:59,512,359 | C/T | — | uncertain significance |
| rs1806235281 | 8:59,512,411 | C/A | — | uncertain significance |
| rs374565705 | 8:59,512,413 | T/C | — | uncertain significance |
| rs374459788 | 8:59,513,853 | A/C | — | uncertain significance |
| rs777034496 | 8:59,514,036 | G/A | — | uncertain significance |
| rs147866066 | 8:59,514,057 | T/C | — | uncertain significance |
| rs142278918 | 8:59,514,679 | T/C | — | uncertain significance |
| rs1324484057 | 8:59,514,681 | C/T | — | uncertain significance |
| rs745718857 | 8:59,514,695 | A/T | — | uncertain significance |
| rs11780640 | 8:59,515,560 | T/G | — | — |
| rs369530702 | 8:59,518,534 | C/T | — | uncertain significance |
| rs188805433 | 8:59,520,346 | C/A | — | uncertain significance |
| rs764341478 | 8:59,522,164 | G/A | — | uncertain significance |
| rs1466210895 | 8:59,522,177 | G/C | — | uncertain significance |
| rs1213573325 | 8:59,522,192 | G/T | — | uncertain significance |
| rs143811464 | 8:59,522,239 | G/A | — | uncertain significance |
| rs1038161985 | 8:59,535,798 | T/C | — | uncertain significance |
| rs150658908 | 8:59,535,809 | C/T | — | uncertain significance |
| rs139786186 | 8:59,535,810 | G/A | — | uncertain significance |
| rs1247257940 | 8:59,536,312 | C/T | — | uncertain significance |
| rs762596976 | 8:59,544,069 | A/G | — | uncertain significance |
| rs759670131 | 8:59,547,752 | C/G | — | uncertain significance |
| rs2536480761 | 8:59,555,564 | T/G | — | uncertain significance |
| rs1219386306 | 8:59,571,761 | T/C | — | uncertain significance |
| rs919994165 | 8:59,571,782 | G/C | — | uncertain significance |
| rs1224617095 | 8:59,571,784 | C/T | — | uncertain significance |
| rs1807797771 | 8:59,571,788 | A/G | — | uncertain significance |
| rs2536542665 | 8:59,571,791 | C/T | — | uncertain significance |
| rs1053000181 | 8:59,571,805 | G/C | — | uncertain significance |
| rs936848558 | 8:59,571,839 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.