SP110

SP110 nuclear body protein

Summary

The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]

Known Variants412 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs722555	2:231,033,516	C/T	downstream gene variant	—
rs76598053	2:231,033,636	T/A	—	uncertain significance
rs79681285	2:231,033,637	T/A	—	uncertain significance
rs2078358694	2:231,033,682	G/T	—	uncertain significance
rs371157716	2:231,033,758	C/T	—	uncertain significance
rs200225863	2:231,033,844	G/C	—	uncertain significance
rs757369735	2:231,033,847	A/C	—	uncertain significance
rs200020664	2:231,033,855	G/C	—	uncertain significance
rs181058279	2:231,033,860	C/T	—	uncertain significance
rs115052010	2:231,033,862	C/T	—	uncertain significance
rs1423431073	2:231,033,863	C/A	—	uncertain significance
rs115945163	2:231,033,864	G/A	—	likely benign
rs771524886	2:231,033,866	C/T	—	uncertain significance
rs147011203	2:231,033,868	T/C	—	conflicting classifications of pathogenicity
rs144066858	2:231,033,870	G/A	—	likely benign
rs2469374425	2:231,033,876	A/G	—	likely benign
rs770898382	2:231,033,882	A/G	—	likely benign
rs2078364090	2:231,033,883	C/T	—	uncertain significance
rs141900135	2:231,033,884	C/T	—	uncertain significance
rs750415144	2:231,033,885	G/A	—	likely benign
rs1396764952	2:231,033,887	G/A	—	likely benign
rs765155471	2:231,033,890	C/T	—	uncertain significance
rs201752781	2:231,033,891	G/A	—	likely benign
rs370130521	2:231,033,896	T/C	—	uncertain significance
rs1560518407	2:231,033,907	T/C	—	uncertain significance
rs1369425728	2:231,033,910	A/G	—	uncertain significance
rs756202587	2:231,033,921	T/C	—	likely benign
rs2078367589	2:231,033,923	A/C	—	uncertain significance
rs114501363	2:231,033,928	A/G	—	uncertain significance
rs150606938	2:231,033,941	C/G	—	uncertain significance
rs1371302119	2:231,033,944	A/G	—	uncertain significance
rs2106338359	2:231,033,971	A/C	—	likely benign
rs6436915	2:231,034,524	G/A	—	—
rs2106342777	2:231,035,336	C/T	—	uncertain significance
rs754325607	2:231,035,339	T/C	—	uncertain significance
rs201966308	2:231,035,351	T/A	—	uncertain significance
rs758822350	2:231,035,353	T/C	—	uncertain significance
rs115347862	2:231,035,359	C/T	—	benign
rs200893271	2:231,035,360	G/A	—	uncertain significance
rs201864810	2:231,035,372	G/T	—	uncertain significance
rs1302656922	2:231,035,374	A/G	—	uncertain significance
rs780195098	2:231,035,377	T/G	—	uncertain significance
rs200397055	2:231,035,380	C/T	—	uncertain significance
rs201059449	2:231,035,381	G/A	—	conflicting classifications of pathogenicity
rs200463093	2:231,035,391	T/C	—	likely benign
rs149050898	2:231,035,397	C/T	—	likely benign
rs375757117	2:231,035,400	G/A	—	likely benign
rs1041024262	2:231,035,406	T/C	—	likely benign
rs115116751	2:231,035,409	C/T	—	likely benign
rs372023963	2:231,035,410	G/A	—	uncertain significance
rs752004065	2:231,035,426	T/C	—	uncertain significance
rs199752332	2:231,035,437	A/C	—	uncertain significance
rs199635684	2:231,035,460	C/G	—	uncertain significance
rs2469387432	2:231,035,463	A/G	—	likely benign
rs200027337	2:231,035,465	C/T	—	uncertain significance
rs114352205	2:231,035,466	G/A	—	likely benign
rs143090622	2:231,035,473	C/G	—	uncertain significance
rs1011767398	2:231,035,474	G/A	—	pathogenic
rs2469387688	2:231,035,479	T/C	—	likely pathogenic
rs2078418574	2:231,035,494	C/T	—	likely benign
rs13010998	2:231,035,729	G/C	intron variant	—
rs13010639	2:231,035,745	C/T	intron variant	—
rs2469396420	2:231,036,484	C/G	—	likely pathogenic
rs199946971	2:231,036,762	G/C	—	likely benign
rs1353276974	2:231,036,765	G/A	—	likely benign
rs34034766	2:231,036,768	T/C	—	benign
rs1406379558	2:231,036,771	A/T	—	likely benign
rs978837440	2:231,036,778	T/A	—	uncertain significance
rs2078459232	2:231,036,803	C/T	—	likely benign
rs2469400673	2:231,036,813	A/C	—	uncertain significance
rs1474040043	2:231,036,815	G/T	—	likely benign
rs764835902	2:231,036,824	T/C	—	likely benign
rs752196930	2:231,036,827	A/G	—	likely benign
rs201886262	2:231,036,831	T/A	—	conflicting classifications of pathogenicity
rs2106348468	2:231,036,837	T/C	—	uncertain significance
rs757053890	2:231,036,840	T/C	—	uncertain significance
rs2078460485	2:231,036,846	C/T	—	uncertain significance
rs1574590002	2:231,036,848	T/G	—	likely benign
rs3948463	2:231,036,860	C/T	—	benign
rs2106348583	2:231,036,864	C/T	—	uncertain significance
rs13018234	2:231,036,866	G/A	—	benign
rs2078461254	2:231,036,884	C/T	—	likely benign
rs547677489	2:231,036,889	T/C	—	uncertain significance
rs1408172912	2:231,036,899	T/C	—	uncertain significance
rs200906452	2:231,036,901	G/A	—	likely benign
rs202230727	2:231,036,904	C/A	—	likely benign
rs192671550	2:231,037,540	C/G	—	likely benign
rs200267588	2:231,037,541	G/A	—	likely benign
rs368862360	2:231,037,543	G/T	—	likely benign
rs2469408777	2:231,037,549	A/C	—	likely benign
rs201034113	2:231,037,556	T/A	—	conflicting classifications of pathogenicity
rs925484782	2:231,037,565	G/C	—	likely benign
rs2078484915	2:231,037,591	C/T	—	uncertain significance
rs199745658	2:231,037,605	C/T	—	uncertain significance
rs200559722	2:231,037,606	G/A	—	pathogenic
rs768181968	2:231,037,613	A/G	—	likely benign
rs35495464	2:231,037,616	A/G	—	benign
rs761714428	2:231,037,617	C/T	—	conflicting classifications of pathogenicity
rs116626378	2:231,037,619	G/A	—	likely benign
rs371526319	2:231,037,621	A/G	—	uncertain significance

Showing 100 of 412 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.