SMARCD3
SWI/SNF related BAF chromatin remodeling complex subunit D3
Summary
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2150588022 | 7:150,936,550 | C/T | — | uncertain significance |
| rs140006247 | 7:150,936,565 | C/T | — | uncertain significance |
| rs1028309748 | 7:150,936,733 | G/A | — | uncertain significance |
| rs758437181 | 7:150,936,753 | C/G | — | uncertain significance |
| rs79419269 | 7:150,937,076 | T/C | — | — |
| rs767777695 | 7:150,937,530 | C/T | — | uncertain significance |
| rs754353068 | 7:150,937,565 | C/T | — | uncertain significance |
| rs765462133 | 7:150,937,592 | C/T | — | uncertain significance |
| rs758236448 | 7:150,938,988 | G/A | — | uncertain significance |
| rs150260765 | 7:150,939,617 | C/T | — | uncertain significance |
| rs778350608 | 7:150,939,683 | G/A | — | uncertain significance |
| rs1052482244 | 7:150,939,895 | A/G | — | uncertain significance |
| rs1022296899 | 7:150,942,609 | G/A | — | uncertain significance |
| rs899283546 | 7:150,942,652 | G/A | — | uncertain significance |
| rs1460493465 | 7:150,942,684 | A/T | — | uncertain significance |
| rs78740585 | 7:150,944,302 | G/A | regulatory region variant | — |
| rs1377008495 | 7:150,945,579 | G/A | — | uncertain significance |
| rs73169671 | 7:150,947,689 | C/A | upstream gene variant | — |
| rs7781265 | 7:150,950,940 | G/A | upstream gene variant | — |
| rs4472433 | 7:150,951,016 | A/G | upstream gene variant | — |
| rs61591132 | 7:150,952,770 | G/C | — | — |
| rs2530459 | 7:150,954,184 | T/C | downstream gene variant | — |
| rs17173769 | 7:150,957,429 | T/C | intron variant | — |
| rs58992040 | 7:150,960,813 | G/A | intron variant | — |
| rs59092968 | 7:150,960,838 | C/T | intron variant | — |
| rs528211817 | 7:150,967,314 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.