SPIB
Spi-B transcription factor
Summary
The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200960532 | 19:50,923,196 | C/T | — | benign |
| rs1211041542 | 19:50,923,212 | G/A | — | likely benign |
| rs1601259535 | 19:50,923,240 | G/A | — | likely benign |
| rs200555920 | 19:50,925,740 | G/A | — | likely benign |
| rs760432321 | 19:50,925,761 | G/A | — | uncertain significance |
| rs780114688 | 19:50,926,124 | C/T | — | likely benign |
| rs896468937 | 19:50,926,125 | C/G | — | uncertain significance |
| rs145129604 | 19:50,926,128 | A/G | — | uncertain significance |
| rs141734267 | 19:50,926,154 | G/A | — | likely benign |
| rs11546996 | 19:50,926,265 | C/G | — | benign |
| rs1261613513 | 19:50,926,293 | A/T | — | uncertain significance |
| rs34944112 | 19:50,926,565 | C/T | intron variant | — |
| rs3745516 | 19:50,926,742 | A/G | intron variant | — |
| rs372608551 | 19:50,926,969 | T/C | — | likely benign |
| rs375839428 | 19:50,926,988 | C/T | — | uncertain significance |
| rs117090800 | 19:50,927,005 | C/T | — | benign |
| rs769815768 | 19:50,931,304 | A/C | — | uncertain significance |
| rs2514112021 | 19:50,931,348 | G/A | — | uncertain significance |
| rs1413323093 | 19:50,931,432 | C/A | — | uncertain significance |
| rs983391367 | 19:50,931,582 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.