PPP1R9A

protein phosphatase 1 regulatory subunit 9A

Summary

This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Known Variants137 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs751100767	7:94,539,459	A/G	—	uncertain significance
rs12536183	7:94,539,536	C/T	—	benign
rs113253337	7:94,539,540	T/A	—	benign
rs140152346	7:94,539,550	A/T	—	uncertain significance
rs569938281	7:94,539,658	A/G	—	likely benign
rs374284975	7:94,539,725	G/A	—	uncertain significance
rs368743894	7:94,539,775	A/G	—	uncertain significance
rs370361768	7:94,539,818	C/T	—	likely benign
rs758470260	7:94,539,856	A/C	—	uncertain significance
rs1360347930	7:94,539,885	G/A	—	uncertain significance
rs1367953781	7:94,540,006	G/C	—	uncertain significance
rs2536114046	7:94,540,034	T/A	—	uncertain significance
rs746165385	7:94,540,156	C/A	—	uncertain significance
rs138552151	7:94,540,227	A/T	—	likely benign
rs779049415	7:94,540,237	C/T	—	uncertain significance
rs2536118715	7:94,540,272	G/C	—	uncertain significance
rs769401887	7:94,540,356	C/G	—	likely benign
rs748938191	7:94,540,360	C/G	—	uncertain significance
rs10230714	7:94,540,416	A/G	—	benign
rs564220438	7:94,540,434	C/T	—	uncertain significance
rs1001895545	7:94,540,473	A/G	—	uncertain significance
rs924472033	7:94,540,480	T/C	—	uncertain significance
rs2536123441	7:94,540,518	G/A	—	uncertain significance
rs61737465	7:94,540,527	G/A	—	benign
rs565628722	7:94,540,551	G/T	—	uncertain significance
rs533941663	7:94,540,587	A/C	—	likely benign
rs759803901	7:94,540,615	T/C	—	uncertain significance
rs147217597	7:94,540,623	G/A	—	likely benign
rs761074322	7:94,540,636	A/G	—	uncertain significance
rs754732393	7:94,540,689	G/A	—	uncertain significance
rs529891493	7:94,540,714	A/G	—	uncertain significance
rs201911346	7:94,540,723	A/G	—	uncertain significance
rs769120175	7:94,540,735	T/C	—	uncertain significance
rs964355652	7:94,540,741	A/G	—	uncertain significance
rs140336712	7:94,540,750	T/C	—	uncertain significance
rs2536129891	7:94,540,765	A/C	—	uncertain significance
rs73423007	7:94,540,770	G/A	—	uncertain significance
rs144417105	7:94,540,787	T/C	—	likely benign
rs545979692	7:94,554,907	A/C	—	—
rs562126109	7:94,565,140	C/G	—	—
rs546577278	7:94,584,929	C/T	—	—
rs76901064	7:94,604,949	A/G	regulatory region variant	—
rs570174677	7:94,613,450	G/A	—	—
rs151225924	7:94,615,102	C/G	intron variant	—
rs549141196	7:94,637,185	A/G	—	—
rs181764248	7:94,640,456	T/C	intron variant	—
rs140326266	7:94,659,259	A/T	intron variant	—
rs772941094	7:94,696,247	T/C	—	—
rs574019655	7:94,703,681	G/A	—	—
rs191662105	7:94,705,251	T/C	intron variant	—
rs190397014	7:94,737,008	G/A	intron variant	—
rs755128907	7:94,740,597	C/G	—	uncertain significance
rs151099122	7:94,740,687	A/G	—	benign
rs140118821	7:94,740,697	G/C	—	uncertain significance
rs532863397	7:94,751,548	T/C	—	—
rs147712331	7:94,758,732	C/G	intron variant	—
rs555477300	7:94,768,600	T/C	—	—
rs77903563	7:94,771,052	G/C	intron variant	—
rs148057600	7:94,771,412	C/G	intron variant	—
rs533394527	7:94,773,516	T/G	—	—
rs190959007	7:94,777,402	A/G	intron variant	—
rs183795882	7:94,781,351	C/T	downstream gene variant	—
rs77657404	7:94,791,435	A/T	intron variant	—
rs189908503	7:94,800,981	A/G	intron variant	—
rs190778128	7:94,803,145	C/T	intron variant	—
rs534340152	7:94,803,525	A/C	—	—
rs190807953	7:94,808,632	G/A	intron variant	—
rs183928732	7:94,809,007	A/G	intron variant	—
rs565784626	7:94,827,121	C/T	—	—
rs1836602829	7:94,827,699	A/T	—	uncertain significance
rs2491419071	7:94,827,792	A/G	—	uncertain significance
rs148089191	7:94,832,128	G/A	intron variant	—
rs375766359	7:94,832,986	G/A	—	uncertain significance
rs2491629930	7:94,832,993	T/G	—	uncertain significance
rs1790079234	7:94,832,994	G/T	—	uncertain significance
rs561167305	7:94,839,488	G/A	—	—
rs192272865	7:94,852,765	T/A	intron variant	—
rs753237165	7:94,855,309	G/A	—	uncertain significance
rs577955181	7:94,855,379	T/A	—	uncertain significance
rs368019173	7:94,855,385	C/T	—	uncertain significance
rs559370299	7:94,857,542	T/G	—	—
rs13224383	7:94,865,786	T/C	intron variant	—
rs767825443	7:94,867,052	T/G	—	—
rs58319274	7:94,881,157	G/C	—	benign
rs200530341	7:94,881,174	A/C	—	benign
rs955842795	7:94,881,325	G/A	—	uncertain significance
rs371155091	7:94,881,343	A/G	—	uncertain significance
rs372820941	7:94,897,892	G/C	—	uncertain significance
rs1303844942	7:94,897,916	C/G	—	uncertain significance
rs1210529630	7:94,897,939	A/G	—	uncertain significance
rs150722853	7:94,897,945	C/T	—	benign
rs139020369	7:94,897,946	G/A	—	uncertain significance
rs769953783	7:94,898,013	G/C	—	uncertain significance
rs746197033	7:94,898,562	T/G	—	uncertain significance
rs370338223	7:94,898,584	G/A	—	likely benign
rs2493950494	7:94,898,594	G/A	—	uncertain significance
rs761328436	7:94,898,625	C/T	—	uncertain significance
rs561707591	7:94,898,630	G/A	—	uncertain significance
rs2153046607	7:94,898,634	G/A	—	uncertain significance
rs772314281	7:94,898,699	G/T	—	uncertain significance

Showing 100 of 137 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.