SAC3D1

SAC3 domain containing 1

Summary

Predicted to be involved in centrosome duplication and spindle assembly. Predicted to act upstream of or within negative regulation of receptor signaling pathway via JAK-STAT and regulation of immune response. Predicted to be located in microtubule cytoskeleton. Predicted to be part of protein-containing complex. Predicted to be active in centrosome; nucleus; and spindle. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants28 total

rsidPosition (GRCh37)AllelesClassClinVar
rs245858911:64,806,498C/Tupstream gene variant
rs75608253411:64,808,825G/Cuncertain significance
rs36925057711:64,809,041G/Tlikely benign
rs76706373511:64,809,048C/Tuncertain significance
rs95636207711:64,809,063T/Guncertain significance
rs138053348411:64,809,119G/Auncertain significance
rs134615912211:64,809,125G/Auncertain significance
rs77789407511:64,809,134G/Auncertain significance
rs194660830311:64,809,204G/Auncertain significance
rs92927295411:64,809,278G/Alikely benign
rs56689562111:64,809,317C/Tuncertain significance
rs94342857611:64,809,329T/Auncertain significance
rs249538961311:64,809,330A/Guncertain significance
rs37639603011:64,811,708G/Tuncertain significance
rs76338227511:64,811,750T/Cuncertain significance
rs78094770511:64,811,793G/Tuncertain significance
rs78026744311:64,811,811G/Auncertain significance
rs74817852411:64,811,820G/Auncertain significance
rs77979867311:64,811,877A/Glikely benign
rs37693336011:64,811,886G/Auncertain significance
rs76857222411:64,811,906G/Auncertain significance
rs37014114911:64,811,910G/Auncertain significance
rs37730400911:64,811,993C/Tuncertain significance
rs7819149611:64,811,994G/Tuncertain significance
rs75878151311:64,812,060G/Auncertain significance
rs77295649211:64,812,101G/Auncertain significance
rs20104854711:64,812,173A/Glikely benign
rs75628538011:64,812,174C/Tuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.