S100Z

S100 calcium binding protein Z

Summary

Members of the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression patterns. For additional background information on S100 proteins, see MIM 114085.[supplied by OMIM, Mar 2008]

Known Variants25 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1119579555:76,159,489A/G——
rs64149715:76,170,674A/G——
rs13203085:76,171,252A/Gmissense variant—
rs3714895645:76,171,263T/C—uncertain significance
rs7812475545:76,173,607G/A—uncertain significance
rs25312142465:76,173,653A/T—uncertain significance
rs1477423675:76,180,962C/Tintron variant—
rs358847285:76,181,414C/T——
rs5529955905:76,187,707G/A——
rs1133753745:76,194,188G/C——
rs3734219715:76,202,909C/T——
rs104471635:76,207,216C/Tintron variant—
rs68791295:76,207,775A/Tintron variant—
rs1432202825:76,207,954G/Aintron variant—
rs17006585:76,210,859G/C——
rs5777766845:76,215,349C/T——
rs24605045:76,224,171G/Cintergenic variant—
rs92936995:76,228,444G/Tintergenic variant—
rs1871579615:76,228,816G/Cintergenic variant—
rs354100305:76,230,696T/C——
rs17006885:76,231,128A/Gintergenic variant—
rs117471905:76,231,193C/Aintergenic variant—
rs109428035:76,231,861C/Tintergenic variant—
rs17157515:76,239,704C/Tupstream gene variant—
rs17157495:76,239,847T/A——

Gene information from NCBI Gene. Variant classifications from ClinVar.