SP6
Sp6 transcription factor
Summary
SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2033896039 | 17:45,924,669 | T/C | — | uncertain significance |
| rs746272547 | 17:45,924,688 | C/T | — | uncertain significance |
| rs532938868 | 17:45,924,735 | C/T | — | uncertain significance |
| rs546815498 | 17:45,924,738 | G/A | — | uncertain significance |
| rs200504646 | 17:45,924,744 | C/G | — | uncertain significance |
| rs145280290 | 17:45,924,787 | C/G | — | benign |
| rs752843805 | 17:45,924,868 | C/G | — | uncertain significance |
| rs2033903093 | 17:45,925,024 | T/C | — | uncertain significance |
| rs922570269 | 17:45,925,071 | G/A | — | uncertain significance |
| rs982594079 | 17:45,925,117 | C/T | — | uncertain significance |
| rs766934038 | 17:45,925,135 | G/A | — | uncertain significance |
| rs767064330 | 17:45,925,231 | C/T | — | uncertain significance |
| rs776042092 | 17:45,925,344 | C/G | — | uncertain significance |
| rs763381595 | 17:45,925,347 | G/T | — | uncertain significance |
| rs753837079 | 17:45,925,396 | G/C | — | uncertain significance |
| rs147425590 | 17:45,925,507 | G/T | — | uncertain significance |
| rs1438975102 | 17:45,925,651 | G/A | — | uncertain significance |
| rs759747518 | 17:45,925,659 | G/A | — | uncertain significance |
| rs1423558573 | 17:45,925,774 | A/G | — | uncertain significance |
| rs729988 | 17:45,926,457 | G/T | — | — |
| rs4794202 | 17:45,930,539 | G/T | upstream gene variant | — |
| rs59715174 | 17:45,931,413 | A/G | upstream gene variant | — |
| rs56104550 | 17:45,941,794 | A/C | — | — |
| rs72833466 | 17:45,948,952 | C/A | intergenic variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.