SUPT4H1
SPT4 homolog, DSIF elongation factor subunit
Summary
This gene encodes the small subunit of DRB (5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole) sensitivity-inducing factor (DSIF) complex, which regulates mRNA processing and transcription elongation by RNA polymerase II. The encoded protein is localized to the nucleus and interacts with the large subunit (SUPT5H) to form the DSIF complex. Related pseudogenes have been identified on chromosomes 2 and 12. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
Known Variants7 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2070107 | 17:56,423,201 | G/C | 3 prime UTR variant | — |
| rs1972284766 | 17:56,423,653 | C/A | — | uncertain significance |
| rs11658873 | 17:56,423,750 | G/C | intron variant | — |
| rs775563309 | 17:56,424,578 | G/A | — | uncertain significance |
| rs763950244 | 17:56,424,592 | C/A | — | uncertain significance |
| rs56058331 | 17:56,427,128 | G/A | — | — |
| rs773402609 | 17:56,429,471 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.