SMPDL3A

sphingomyelin phosphodiesterase acid like 3A

Summary

Enables phosphoric diester hydrolase activity and zinc ion binding activity. Involved in negative regulation of cGAS/STING signaling pathway and nucleoside triphosphate catabolic process. Located in extracellular exosome. Is active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants24 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs560776858	6:123,110,513	G/C	—	uncertain significance
rs758404957	6:123,110,522	C/G	—	uncertain significance
rs370395509	6:123,110,562	C/T	—	uncertain significance
rs770665936	6:123,116,861	C/T	—	uncertain significance
rs147950292	6:123,116,925	C/A	—	uncertain significance
rs369652367	6:123,117,017	C/T	—	uncertain significance
rs538449771	6:123,117,024	G/T	—	uncertain significance
rs145066926	6:123,118,062	T/G	—	uncertain significance
rs765554191	6:123,118,085	C/T	—	uncertain significance
rs28385609	6:123,122,464	C/T	missense variant	—
rs1299575638	6:123,122,476	A/G	—	uncertain significance
rs1218538809	6:123,122,533	A/G	—	uncertain significance
rs536783168	6:123,122,882	A/G	—	—
rs2534249005	6:123,124,842	C/G	—	uncertain significance
rs763692584	6:123,124,940	G/C	—	uncertain significance
rs996768386	6:123,126,064	T/C	—	uncertain significance
rs750958163	6:123,126,082	G/T	—	uncertain significance
rs151029306	6:123,126,163	G/A	—	uncertain significance
rs761982330	6:123,126,166	A/T	—	uncertain significance
rs150818386	6:123,126,836	C/T	intron variant	—
rs1401366942	6:123,127,473	C/G	—	uncertain significance
rs181597605	6:123,128,152	C/T	intron variant	—
rs35042139	6:123,128,536	C/T	intron variant	—
rs554388586	6:123,129,191	T/C	—	—

Gene information from NCBI Gene. Variant classifications from ClinVar.