ASCC3

activating signal cointegrator 1 complex subunit 3

Summary

This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Known Variants161 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5589588576:100,957,281G/A—uncertain significance
rs1443620036:100,957,336C/T—uncertain significance
rs2407686:100,957,344T/Cmissense variant—
rs24822625556:100,957,823G/A—uncertain significance
rs5443768686:100,957,848C/T—uncertain significance
rs7572198006:100,957,886A/G—uncertain significance
rs24822635136:100,957,968A/G—uncertain significance
rs1508205426:100,960,590G/A—likely benign
rs24822733306:100,960,596C/T—uncertain significance
rs7636838176:100,960,780T/G—uncertain significance
rs24822872876:100,964,106C/T—uncertain significance
rs7791987116:100,964,110G/C—likely benign
rs13320432746:100,964,135A/G—conflicting classifications of pathogenicity
rs7539732766:100,964,192G/A—uncertain significance
rs1466579726:100,965,894A/G—uncertain significance
rs9846865046:100,965,906G/A—uncertain significance
rs3769548066:100,965,937C/T—uncertain significance
rs7707270206:100,965,960T/C—uncertain significance
rs126607256:100,978,570C/Tcoding sequence variant—
rs13811761996:100,988,121T/C—uncertain significance
rs12416840996:100,988,202A/C—uncertain significance
rs24825721176:101,037,514A/G—uncertain significance
rs1417079276:101,037,548G/A—uncertain significance
rs5729761326:101,037,604G/A—uncertain significance
rs7536867086:101,037,610C/T—uncertain significance
rs3716612976:101,037,637C/T—uncertain significance
rs7651701646:101,037,896G/C—uncertain significance
rs7528313586:101,037,912C/T—uncertain significance
rs10319035296:101,037,919C/T—uncertain significance
rs10451242616:101,049,708G/A—pathogenic
rs5274106356:101,053,556G/A—uncertain significance
rs7797651216:101,054,631C/T—uncertain significance
rs7460323676:101,054,676T/A—pathogenic
rs7499485706:101,054,705C/T—pathogenic
rs7471855526:101,054,917G/A—likely benign
rs7715314716:101,073,082T/C—uncertain significance
rs7765786736:101,073,121A/G—uncertain significance
rs3754689256:101,073,147C/T—uncertain significance
rs14146954016:101,073,163A/G—pathogenic
rs7464028746:101,073,171A/G—uncertain significance
rs1487424496:101,075,555C/T—pathogenic
rs1423645756:101,075,567C/T—uncertain significance
rs24827232566:101,075,583C/A—uncertain significance
rs7557451286:101,075,728T/C—uncertain significance
rs7812072126:101,075,777C/T—uncertain significance
rs10516514336:101,075,824C/T—pathogenic
rs14839724536:101,076,986G/A—uncertain significance
rs7494072756:101,076,993C/T—uncertain significance
rs1497337006:101,079,008T/G—uncertain significance
rs1995390556:101,079,039A/G—benign
rs13520424736:101,079,086C/T—uncertain significance
rs7703906576:101,086,487G/A—uncertain significance
rs1446391636:101,086,528A/G—benign
rs24827648656:101,086,637A/G—uncertain significance
rs17749706996:101,086,664G/A—uncertain significance
rs77556306:101,090,545T/A—benign
rs7522739096:101,090,604G/C—uncertain significance
rs24827848786:101,091,961A/C—uncertain significance
rs3729478206:101,094,493G/A—pathogenic
rs77733456:101,094,516T/C—benign
rs9805424656:101,094,567G/A—uncertain significance
rs14708172406:101,094,622T/A—uncertain significance
rs17754246226:101,095,105T/C—uncertain significance
rs7574615966:101,095,150T/C—uncertain significance
rs24827969926:101,095,177G/A—uncertain significance
rs24827972916:101,095,254A/G—uncertain significance
rs94979836:101,098,518C/T—benign
rs5533013546:101,098,550C/T—likely benign
rs24828090516:101,098,565A/T—likely pathogenic
rs13531756716:101,099,488T/A—uncertain significance
rs24828168376:101,100,692A/T—uncertain significance
rs14198995336:101,100,704T/C—uncertain significance
rs24828169816:101,100,716C/G—uncertain significance
rs1455487646:101,100,754T/C—likely benign
rs93996416:101,100,783T/C—benign
rs13769867726:101,103,628C/G—uncertain significance
rs1171164426:101,109,693G/C—uncertain significance
rs7791505636:101,109,729T/C—uncertain significance
rs17762407266:101,109,776T/C—uncertain significance
rs13299896056:101,109,788A/C—uncertain significance
rs9388866506:101,109,831G/A—conflicting classifications of pathogenicity
rs7574535706:101,109,870C/G—uncertain significance
rs3764529006:101,110,370C/A—uncertain significance
rs1995488626:101,110,384C/T—uncertain significance
rs7699782876:101,110,402G/A—uncertain significance
rs7733689846:101,110,403A/G—uncertain significance
rs24828958006:101,127,552C/T—uncertain significance
rs2392086:101,139,285G/T——
rs69222196:101,153,907G/Cintron variant—
rs122098876:101,156,806G/Aintron variant—
rs7624111446:101,163,352T/C—uncertain significance
rs1395347276:101,163,360T/C—likely benign
rs1450575896:101,163,364A/G—benign
rs24818228516:101,166,021A/G—uncertain significance
rs77486446:101,166,809T/C——
rs5736582956:101,168,169G/A——
rs121942556:101,168,439G/C——
rs7804284306:101,173,429G/A—uncertain significance
rs93735906:101,212,001A/Tintron variant—
rs10209319976:101,214,448C/T—uncertain significance

Showing 100 of 161 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.