SATB2

SATB homeobox 2

Summary

This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]

Known Variants607 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs778160560	2:200,136,940	C/A	—	likely benign
rs1692178208	2:200,136,946	A/T	—	likely benign
rs373319001	2:200,136,947	A/G	—	uncertain significance
rs1489038642	2:200,136,951	C/T	—	uncertain significance
rs1012177833	2:200,136,952	G/T	—	likely benign
rs140532313	2:200,136,953	G/C	—	uncertain significance
rs377368865	2:200,136,954	C/G	—	uncertain significance
rs768447747	2:200,136,958	T/C	—	likely benign
rs2105706426	2:200,136,959	G/A	—	conflicting classifications of pathogenicity
rs551624897	2:200,136,960	C/T	—	likely benign
rs767329844	2:200,136,962	G/A	—	uncertain significance
rs915648697	2:200,136,964	C/G	—	likely benign
rs2105706499	2:200,136,972	T/G	—	uncertain significance
rs2468782730	2:200,136,975	C/T	—	uncertain significance
rs531933724	2:200,136,978	C/T	—	uncertain significance
rs369675452	2:200,136,985	C/T	—	likely benign
rs753933552	2:200,136,991	A/G	—	likely benign
rs2105706567	2:200,136,999	C/T	—	uncertain significance
rs999561200	2:200,137,001	T/C	—	benign
rs1286415699	2:200,137,006	C/G	—	uncertain significance
rs2468782822	2:200,137,007	A/T	—	uncertain significance
rs2105706602	2:200,137,010	T/C	—	uncertain significance
rs1574458712	2:200,137,011	C/T	—	uncertain significance
rs1692181936	2:200,137,014	C/T	—	uncertain significance
rs141424911	2:200,137,015	G/A	—	likely benign
rs2468782879	2:200,137,017	A/G	—	uncertain significance
rs1553538875	2:200,137,020	C/T	—	likely benign
rs148851926	2:200,137,027	G/A	—	likely benign
rs2468782954	2:200,137,031	T/C	—	benign
rs1443276216	2:200,137,032	C/T	—	uncertain significance
rs529621505	2:200,137,033	G/A	—	likely benign
rs2468783001	2:200,137,047	C/T	—	uncertain significance
rs143484322	2:200,137,048	G/A	—	likely benign
rs1559135904	2:200,137,062	C/T	—	uncertain significance
rs1692184330	2:200,137,063	G/A	—	likely benign
rs747832215	2:200,137,081	G/A	—	likely benign
rs200632115	2:200,137,084	C/T	—	likely benign
rs773036691	2:200,137,087	C/T	—	likely benign
rs1451743452	2:200,137,088	G/A	—	benign
rs372032415	2:200,137,089	C/T	—	uncertain significance
rs1378818036	2:200,137,090	G/A	—	likely benign
rs2468783108	2:200,137,091	G/T	—	uncertain significance
rs766332901	2:200,137,098	G/C	—	uncertain significance
rs147191297	2:200,137,102	C/G	—	benign
rs1260665634	2:200,137,105	T/G	—	benign
rs138968934	2:200,137,110	G/T	—	uncertain significance
rs1397644010	2:200,137,112	T/G	—	uncertain significance
rs765349371	2:200,137,116	C/T	—	uncertain significance
rs752933023	2:200,137,117	G/A	—	likely benign
rs2105706935	2:200,137,121	T/A	—	uncertain significance
rs1180696859	2:200,137,126	C/T	—	likely benign
rs764418629	2:200,137,129	G/A	—	likely benign
rs1559136030	2:200,137,136	C/A	—	conflicting classifications of pathogenicity
rs751977362	2:200,137,137	G/T	—	likely benign
rs1692187554	2:200,137,141	G/T	—	conflicting classifications of pathogenicity
rs2468783233	2:200,137,142	T/C	—	likely pathogenic
rs1553538917	2:200,137,146	G/A	—	likely pathogenic
rs1574458924	2:200,137,159	G/A	—	likely benign
rs2105707013	2:200,137,166	T/C	—	benign
rs1553538919	2:200,137,172	G/A	—	pathogenic
rs2468783295	2:200,137,174	G/A	—	likely benign
rs2468783306	2:200,137,175	A/C	—	likely pathogenic
rs781765799	2:200,137,189	C/T	—	likely benign
rs746319722	2:200,137,190	G/A	—	pathogenic
rs2468783342	2:200,137,196	G/T	—	uncertain significance
rs764543183	2:200,137,198	G/A	—	likely benign
rs183727190	2:200,137,201	G/A	—	likely benign
rs1553538927	2:200,137,209	C/T	—	uncertain significance
rs2105707111	2:200,137,212	G/A	—	pathogenic
rs2468783393	2:200,137,218	G/A	—	uncertain significance
rs747802576	2:200,137,231	A/G	—	likely benign
rs1692189569	2:200,137,235	T/C	—	uncertain significance
rs2105707174	2:200,137,249	G/A	—	likely benign
rs1327885665	2:200,137,255	C/T	—	likely benign
rs2468783480	2:200,137,271	G/A	—	uncertain significance
rs1692190479	2:200,137,275	T/A	—	likely pathogenic
rs1223479618	2:200,137,283	C/T	—	likely benign
rs2105707260	2:200,137,284	G/A	—	uncertain significance
rs188200171	2:200,137,285	A/G	—	likely benign
rs1692191333	2:200,137,292	G/A	—	benign
rs1394335364	2:200,137,293	G/T	—	uncertain significance
rs756772038	2:200,137,294	C/T	—	likely benign
rs759470075	2:200,137,306	A/G	—	likely benign
rs1048433974	2:200,137,308	T/C	—	conflicting classifications of pathogenicity
rs1268971989	2:200,137,309	G/A	—	likely benign
rs141436870	2:200,137,318	C/A	—	likely benign
rs2468783653	2:200,137,319	G/A	—	benign
rs2468783680	2:200,137,328	G/A	—	uncertain significance
rs1046317203	2:200,137,330	G/A	—	likely benign
rs764410137	2:200,137,336	C/A	—	likely benign
rs2468783739	2:200,137,341	C/A	—	pathogenic
rs2468783756	2:200,137,349	G/C	—	uncertain significance
rs767988228	2:200,137,357	A/G	—	likely benign
rs751007411	2:200,137,358	C/T	—	likely benign
rs375553887	2:200,137,360	C/T	—	likely benign
rs2105707521	2:200,137,362	C/T	—	uncertain significance
rs371490566	2:200,137,363	C/T	—	likely benign
rs2105707537	2:200,137,365	T/G	—	benign
rs143857389	2:200,137,366	G/T	—	likely benign
rs1692195440	2:200,137,368	C/T	—	conflicting classifications of pathogenicity

Showing 100 of 607 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.