DIP2B

DIP2 acetate--CoA ligase B (putative)

Summary

This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]

Known Variants122 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs888393696	12:50,898,934	G/C	—	uncertain significance
rs1466454746	12:50,898,949	C/T	—	uncertain significance
rs1012751932	12:50,898,956	C/G	—	likely benign
rs1381140625	12:50,898,964	C/T	—	uncertain significance
rs1384765015	12:50,898,973	C/T	—	uncertain significance
rs10876043	12:50,904,144	A/G	intron variant	—
rs11614911	12:50,905,168	G/C	—	—
rs55939211	12:50,906,090	A/G	intron variant	—
rs184351458	12:50,916,799	T/C	intron variant	—
rs11169484	12:50,934,931	G/A	intron variant	—
rs142268946	12:50,937,872	G/C	—	—
rs35173156	12:50,968,330	T/C	intron variant	—
rs10783377	12:50,983,046	A/C	intron variant	—
rs2684900	12:51,019,556	A/T	regulatory region variant	—
rs146296554	12:51,019,802	C/T	—	benign
rs754872797	12:51,019,819	C/T	—	uncertain significance
rs2540077944	12:51,034,552	C/T	—	uncertain significance
rs771056180	12:51,034,573	C/A	—	uncertain significance
rs778632939	12:51,034,593	C/T	—	uncertain significance
rs766919940	12:51,034,624	G/A	—	uncertain significance
rs367778126	12:51,054,030	A/G	—	uncertain significance
rs2731439	12:51,060,350	C/T	intron variant	—
rs2540103029	12:51,065,041	G/T	—	uncertain significance
rs1938848618	12:51,065,051	T/G	—	uncertain significance
rs2540103060	12:51,065,056	A/C	—	uncertain significance
rs1938911020	12:51,068,301	T/A	—	uncertain significance
rs755142868	12:51,068,308	C/G	—	uncertain significance
rs756850362	12:51,068,328	G/A	—	uncertain significance
rs2540105641	12:51,068,331	A/G	—	uncertain significance
rs1215078158	12:51,068,339	C/A	—	uncertain significance
rs374561975	12:51,068,346	C/G	—	uncertain significance
rs73093419	12:51,068,409	G/A	—	likely benign
rs1006854230	12:51,072,543	G/C	—	uncertain significance
rs145274091	12:51,072,578	C/T	—	uncertain significance
rs972085813	12:51,072,579	G/A	—	uncertain significance
rs58366731	12:51,072,591	C/G	—	benign
rs117722674	12:51,072,605	T/C	—	likely benign
rs1938991960	12:51,072,645	A/G	—	uncertain significance
rs2540108774	12:51,072,647	A/G	—	uncertain significance
rs780738932	12:51,077,008	A/G	—	uncertain significance
rs74751916	12:51,080,364	T/C	—	benign
rs148830732	12:51,080,389	C/A	—	likely benign
rs2540115807	12:51,080,393	G/C	—	uncertain significance
rs749838744	12:51,080,416	A/T	—	uncertain significance
rs1197391315	12:51,080,434	C/T	—	uncertain significance
rs778831870	12:51,080,451	C/T	—	uncertain significance
rs2139547901	12:51,084,847	G/C	—	uncertain significance
rs775500081	12:51,084,878	G/A	—	uncertain significance
rs762285602	12:51,084,886	A/G	—	uncertain significance
rs115245528	12:51,084,912	G/A	—	benign
rs200707959	12:51,084,944	C/T	—	likely benign
rs1361871607	12:51,086,749	G/A	—	uncertain significance
rs373834315	12:51,086,788	A/G	—	uncertain significance
rs765181219	12:51,089,079	C/T	—	likely benign
rs140720216	12:51,089,080	G/A	—	uncertain significance
rs2684891	12:51,089,616	T/C	—	benign
rs921336581	12:51,089,646	T/C	—	uncertain significance
rs142942647	12:51,089,718	G/A	—	uncertain significance
rs11169524	12:51,089,734	T/A	—	benign
rs752345597	12:51,090,880	T/C	—	uncertain significance
rs770703708	12:51,090,917	G/A	—	likely benign
rs772446922	12:51,090,951	A/G	—	uncertain significance
rs764498936	12:51,092,129	C/A	—	likely benign
rs201439863	12:51,092,247	G/C	—	uncertain significance
rs148495455	12:51,092,919	T/C	—	benign
rs748736275	12:51,092,975	A/G	—	uncertain significance
rs775261394	12:51,097,944	G/A	—	uncertain significance
rs751369467	12:51,097,948	C/T	—	uncertain significance
rs11169525	12:51,097,971	A/G	—	conflicting classifications of pathogenicity
rs2139565009	12:51,098,002	C/T	—	uncertain significance
rs2540138552	12:51,100,399	G/A	—	uncertain significance
rs147209367	12:51,102,339	G/C	—	likely benign
rs2250752	12:51,106,091	A/T	—	—
rs2250751	12:51,106,178	G/A	intron variant	—
rs1293199990	12:51,108,179	C/T	—	uncertain significance
rs1939675523	12:51,108,188	G/C	—	uncertain significance
rs376052799	12:51,108,210	T/C	—	likely benign
rs2540145523	12:51,108,217	G/C	—	uncertain significance
rs201231908	12:51,108,278	C/T	—	uncertain significance
rs151181050	12:51,108,283	C/A	—	conflicting classifications of pathogenicity
rs149892884	12:51,108,374	A/C	—	likely benign
rs3803181	12:51,112,586	T/C	—	benign
rs1325158025	12:51,112,600	A/G	—	uncertain significance
rs145914484	12:51,112,738	C/T	—	uncertain significance
rs2540150551	12:51,112,750	G/A	—	uncertain significance
rs1216724467	12:51,115,060	C/A	—	uncertain significance
rs1939832250	12:51,115,089	C/G	—	uncertain significance
rs771811266	12:51,116,999	G/A	—	uncertain significance
rs143337436	12:51,117,030	G/C	—	uncertain significance
rs779470430	12:51,117,044	G/A	—	uncertain significance
rs2540154134	12:51,117,056	C/T	—	uncertain significance
rs758233968	12:51,117,093	G/A	—	uncertain significance
rs141470115	12:51,118,571	C/A	—	uncertain significance
rs2139590550	12:51,118,615	C/T	—	uncertain significance
rs749593067	12:51,118,654	A/G	—	uncertain significance
rs774308364	12:51,118,657	A/G	—	uncertain significance
rs111299924	12:51,120,202	C/G	—	—
rs769005574	12:51,121,478	C/T	—	likely benign
rs373279057	12:51,121,533	C/T	—	likely benign
rs1287672970	12:51,121,563	G/A	—	uncertain significance

Showing 100 of 122 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.