SON

SON DNA and RNA binding protein

Summary

This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Known Variants1,054 total

rsidPosition (GRCh37)AllelesClassClinVar
rs104174521:34,915,324C/G—benign
rs104174621:34,915,325G/C—benign
rs15078812221:34,915,407C/T—benign
rs208549821521:34,915,428G/C—uncertain significance
rs251729891821:34,915,440C/T—uncertain significance
rs251729897221:34,915,446A/G—likely benign
rs96717735421:34,915,451G/T—uncertain significance
rs20142269421:34,915,481C/G—benign
rs36775854221:34,915,494C/A—likely benign
rs7477268921:34,918,499T/C—benign
rs93421567621:34,918,501A/G—likely benign
rs20100764221:34,918,510C/T—likely benign
rs208561118721:34,918,516A/T—conflicting classifications of pathogenicity
rs136499804021:34,918,518G/A—pathogenic
rs77023385921:34,918,540G/A—likely benign
rs7660041921:34,918,552A/G—benign
rs127933766421:34,918,561C/T—likely benign
rs20222412321:34,918,562A/G—uncertain significance
rs77589021421:34,918,575A/C—uncertain significance
rs53626771921:34,918,579G/A—likely benign
rs251732609721:34,918,581G/A—uncertain significance
rs75030916121:34,918,587C/G—uncertain significance
rs251732647321:34,918,603G/C—uncertain significance
rs135324193521:34,918,612A/G—likely benign
rs75127387621:34,918,615T/A—uncertain significance
rs251732670821:34,918,618A/G—likely benign
rs14518642721:34,918,620A/C—likely benign
rs208561585521:34,918,622A/G—likely benign
rs251732687121:34,918,636A/T—likely benign
rs251732689121:34,918,637G/A—uncertain significance
rs214580316821:34,918,642A/G—uncertain significance
rs251732720321:34,918,662A/G—uncertain significance
rs130681974721:34,918,663T/C—likely benign
rs77136084921:34,918,664A/G—uncertain significance
rs251732745721:34,918,673C/T—likely pathogenic
rs37703162321:34,918,678T/C—likely benign
rs14719484021:34,918,681G/A—likely benign
rs251732769621:34,918,683C/T—uncertain significance
rs6222770521:34,919,593A/Cupstream gene variant—
rs14926573721:34,921,771A/G—likely benign
rs37406331721:34,921,775C/T—likely benign
rs145788541921:34,921,813C/T—likely benign
rs88603977721:34,921,823C/Tstop gainedpathogenic
rs251734420121:34,921,824A/G—uncertain significance
rs77428448021:34,921,844A/G—uncertain significance
rs75898870821:34,921,850A/G—likely benign
rs208570513621:34,921,884A/G—likely benign
rs78044109621:34,921,896A/G—uncertain significance
rs130361637621:34,921,905A/G—uncertain significance
rs78130962121:34,921,914A/G—likely benign
rs74842620521:34,921,920A/T—likely benign
rs251734493521:34,921,921A/G—likely benign
rs214581406621:34,921,931C/T—pathogenic
rs74909145921:34,921,938A/G—uncertain significance
rs155589799721:34,921,940G/T—pathogenic
rs56833958321:34,921,942A/C—uncertain significance
rs20039793021:34,921,956C/T—benign
rs76384357021:34,921,957G/A—likely benign
rs37650495421:34,921,967G/T—uncertain significance
rs75205413321:34,921,978C/T—likely benign
rs20131936821:34,921,979A/G—likely benign
rs75549707121:34,921,985T/C—benign
rs124532544121:34,921,988G/C—uncertain significance
rs251734553621:34,921,998C/T—uncertain significance
rs77874987221:34,922,013A/C—uncertain significance
rs77204271921:34,922,023T/C—likely benign
rs77550200321:34,922,027G/A—uncertain significance
rs14038986921:34,922,034C/T—likely benign
rs14970558821:34,922,035G/A—likely benign
rs76671028121:34,922,036C/A—likely benign
rs55196817421:34,922,054G/A—uncertain significance
rs208571209721:34,922,056A/T—likely benign
rs251734591721:34,922,061G/T—uncertain significance
rs14883332721:34,922,076A/G—likely benign
rs14251868921:34,922,088C/T—benign
rs74781881221:34,922,095G/C—likely benign
rs155589803321:34,922,100A/G—uncertain significance
rs77601530321:34,922,113A/G—likely benign
rs14687043721:34,922,117A/T—uncertain significance
rs160125782521:34,922,122G/A—likely benign
rs37445323321:34,922,125A/T—likely benign
rs143354815521:34,922,129G/A—uncertain significance
rs37775964621:34,922,143A/G—likely benign
rs55424184621:34,922,144G/A—uncertain significance
rs75824774321:34,922,162A/G—likely benign
rs14072040921:34,922,171G/T—likely benign
rs7974682021:34,922,173A/G—likely benign
rs208571699421:34,922,174G/C—uncertain significance
rs37678415221:34,922,192A/G—uncertain significance
rs55602143921:34,922,194A/G—benign
rs75335568721:34,922,197A/G—likely benign
rs156905099321:34,922,203C/A—likely benign
rs90880935621:34,922,206A/C—likely benign
rs129568873321:34,922,242A/G—likely benign
rs37062048621:34,922,245A/G—likely benign
rs76519364421:34,922,249A/G—uncertain significance
rs56719079621:34,922,261C/G—uncertain significance
rs76634021821:34,922,277C/T—uncertain significance
rs20059971521:34,922,283C/G—uncertain significance
rs75441496121:34,922,292C/T—uncertain significance

Showing 100 of 1,054 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.