SOX13
SRY-box transcription factor 13
Summary
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12125543 | 1:204,058,737 | C/A | — | — |
| rs2527358690 | 1:204,082,063 | T/A | — | uncertain significance |
| rs1000091872 | 1:204,082,069 | C/T | — | uncertain significance |
| rs575571229 | 1:204,082,146 | G/A | — | uncertain significance |
| rs761353816 | 1:204,082,200 | C/T | — | uncertain significance |
| rs973690946 | 1:204,082,203 | G/A | — | uncertain significance |
| rs1656644973 | 1:204,083,451 | C/A | — | uncertain significance |
| rs1406386033 | 1:204,083,467 | G/T | — | uncertain significance |
| rs1178357594 | 1:204,083,522 | G/T | — | uncertain significance |
| rs201412974 | 1:204,083,546 | G/A | — | uncertain significance |
| rs377320241 | 1:204,085,749 | C/T | — | uncertain significance |
| rs757809525 | 1:204,085,802 | G/C | — | uncertain significance |
| rs2527369279 | 1:204,086,256 | A/G | — | uncertain significance |
| rs765761015 | 1:204,086,287 | A/G | — | uncertain significance |
| rs376348030 | 1:204,086,778 | C/T | — | uncertain significance |
| rs756093114 | 1:204,091,053 | C/G | — | uncertain significance |
| rs376943558 | 1:204,091,092 | G/A | — | uncertain significance |
| rs761742138 | 1:204,091,464 | C/T | — | uncertain significance |
| rs376174455 | 1:204,091,486 | C/T | — | uncertain significance |
| rs746636227 | 1:204,091,489 | C/T | — | uncertain significance |
| rs766498039 | 1:204,092,045 | G/A | — | uncertain significance |
| rs779817207 | 1:204,092,242 | C/G | — | uncertain significance |
| rs775787816 | 1:204,092,277 | G/A | — | uncertain significance |
| rs2527384105 | 1:204,092,330 | A/G | — | likely benign |
| rs767627812 | 1:204,092,926 | A/G | — | uncertain significance |
| rs2527388550 | 1:204,093,823 | A/C | — | uncertain significance |
| rs1032549344 | 1:204,093,828 | C/T | — | uncertain significance |
| rs1169782898 | 1:204,093,927 | G/A | — | uncertain significance |
| rs780830027 | 1:204,095,116 | G/A | — | uncertain significance |
| rs527696972 | 1:204,095,138 | A/G | — | uncertain significance |
| rs376615783 | 1:204,095,168 | C/T | — | uncertain significance |
| rs201671514 | 1:204,095,192 | G/A | — | uncertain significance |
| rs766138121 | 1:204,095,212 | T/G | — | uncertain significance |
| rs770201579 | 1:204,095,233 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.