CSF2RA

colony stimulating factor 2 receptor subunit alpha

Summary

The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]

Known Variants385 total

rsidPosition (GRCh37)AllelesClassClinVar
rs28414810Y:1,363,457C/G—benign
rs28694718Y:1,364,225C/T—benign
rs181469243X:1,401,378G/A—benign
rs28733318X:1,401,434A/G—benign
rs763471121X:1,401,608G/C—likely benign
rs771435926X:1,401,610T/C—uncertain significance
rs372682829X:1,401,611G/T—likely benign
rs2521404156X:1,401,613C/A—uncertain significance
rs1402617835X:1,401,616G/A—uncertain significance
rs2090190168X:1,401,617C/A—uncertain significance
rs1182880926X:1,401,621C/T—likely benign
rs2148243374X:1,401,623G/A—likely benign
rs752275921X:1,401,631A/G—uncertain significance
rs760312267X:1,401,639C/T—uncertain significance
rs67006588X:1,401,646C/G—benign
rs1399172803X:1,401,653C/T—likely benign
rs1603424196X:1,401,665G/T—uncertain significance
rs757087323X:1,401,670C/T—uncertain significance
rs778872405X:1,401,671G/A—uncertain significance
rs750353682X:1,401,679A/G—likely benign
rs2521409780X:1,401,683A/G—likely benign
rs755031164X:1,401,686C/T—likely benign
rs770130009X:1,401,689G/A—likely benign
rs143197304X:1,401,790C/G—likely benign
rs182764964X:1,404,377G/A—benign
rs28427040X:1,404,467C/A—benign
rs193251412X:1,404,541C/G—benign
rs147667495X:1,404,553G/C—benign
rs199901141X:1,404,625G/A—benign
rs756291418X:1,404,636G/A—likely benign
rs746297908X:1,404,653A/G—likely benign
rs200837432X:1,404,655T/C—likely benign
rs776015202X:1,404,657C/A—likely benign
rs374715344X:1,404,659C/T—likely benign
rs768179808X:1,404,660G/A—likely benign
rs765007851X:1,404,665T/C—likely benign
rs2521665089X:1,404,668C/A—uncertain significance
rs756203389X:1,404,676C/T—pathogenic
rs764272709X:1,404,677G/A—uncertain significance
rs754016607X:1,404,681A/G—likely benign
rs1364009285X:1,404,691G/C—uncertain significance
rs139819371X:1,404,695C/G—uncertain significance
rs2148311272X:1,404,698G/A—uncertain significance
rs746211899X:1,404,725C/T—uncertain significance
rs184550681X:1,404,726G/T—likely benign
rs2090584002X:1,404,731A/G—uncertain significance
rs762604364X:1,404,738C/G—uncertain significance
rs1414104515X:1,404,741G/A—pathogenic
rs774362937X:1,404,750A/G—likely benign
rs1457285917X:1,404,755A/G—uncertain significance
rs759542097X:1,404,757A/G—uncertain significance
rs1603426236X:1,404,761C/A—uncertain significance
rs2090588555X:1,404,777C/T—likely benign
rs150743648X:1,404,785A/G—uncertain significance
rs1232725447X:1,404,801C/T—likely benign
rs747486085X:1,404,802G/A—uncertain significance
rs373421744X:1,404,807A/G—likely benign
rs1472645884X:1,404,810C/G—likely benign
rs188911889X:1,404,820C/T—likely benign
rs191843818X:1,404,821G/A—likely benign
rs748973309X:1,404,831T/A—likely benign
rs28716068X:1,404,832T/G—benign
rs143387243X:1,404,855C/T—likely benign
rs28521253X:1,404,910C/A—benign
rs28692572X:1,404,931T/C—benign
rs28545435X:1,404,936T/C—benign
rs28621975X:1,404,941G/A—benign
rs28505671X:1,404,964A/G—benign
rs140832878X:1,407,099G/A—likely benign
rs28652662X:1,407,101A/G—benign
rs28402135X:1,407,139C/G—benign
rs112156876X:1,407,167G/C—benign
rs111664052X:1,407,172T/C—benign
rs185575176X:1,407,190C/T—benign
rs190309866X:1,407,191A/G—benign
rs34442542X:1,407,273G/A—benign
rs35118829X:1,407,281G/A—benign
rs188867455X:1,407,289T/C—benign
rs181110234X:1,407,291C/G—benign
rs866893471X:1,407,299T/C—benign
rs868597057X:1,407,300G/A—benign
rs866285885X:1,407,302A/G—benign
rs189725921X:1,407,306C/T—benign
rs146643651X:1,407,315T/C—benign
rs141333770X:1,407,317G/A—benign
rs28547475X:1,407,330A/G—benign
rs77140452X:1,407,332G/A—benign
rs146441189X:1,407,377T/C—benign
rs760668639X:1,407,394C/G—likely benign
rs1190286121X:1,407,400G/T—likely benign
rs1423732666X:1,407,402A/T—likely benign
rs2521927860X:1,407,405T/C—likely benign
rs763069762X:1,407,406C/T—likely benign
rs149059494X:1,407,415A/G—likely benign
rs767927197X:1,407,423C/T—likely benign
rs753067685X:1,407,424G/A—uncertain significance
rs201854740X:1,407,431C/T—uncertain significance
rs753367293X:1,407,432G/A—likely benign
rs2091031726X:1,407,434G/A—uncertain significance
rs758063598X:1,407,442C/T—uncertain significance

Showing 100 of 385 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.