ST6GAL1

ST6 beta-galactoside alpha-2,6-sialyltransferase 1

Summary

This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

Known Variants43 total

rsidPosition (GRCh37)AllelesClassClinVar
rs283660363:186,647,763A/T
rs20419653:186,648,411C/Tregulatory region variant
rs109372753:186,650,790A/Tcoding sequence variant
rs130648143:186,654,766A/T
rs354219423:186,654,824C/Tdownstream gene variant
rs358520783:186,654,836G/T
rs357621673:186,654,985T/G
rs38641063:186,656,602G/A
rs168613293:186,666,461C/G
rs767935413:186,667,713G/Aregulatory region variant
rs1919625163:186,668,507A/Gregulatory region variant
rs76264833:186,668,999G/C
rs23779343:186,670,266C/Gintron variant
rs5343098933:186,671,707A/T
rs1494118833:186,682,611C/Gregulatory region variant
rs67784363:186,684,364T/Aregulatory region variant
rs1876914203:186,697,963C/Tregulatory region variant
rs731877873:186,701,595C/Tregulatory region variant
rs622926203:186,713,289A/C
rs746182833:186,715,842C/Tintron variant
rs76529953:186,722,944G/Aintron variant
rs117104563:186,725,887G/Aintron variant
rs177761203:186,732,679C/G
rs38218193:186,732,725G/Aregulatory region variant
rs168614993:186,732,955G/Aintron variant
rs76343893:186,738,421T/Cintron variant
rs40121723:186,741,511C/G
rs38927793:186,748,887A/Tregulatory region variant
rs22685323:186,757,995A/Tregulatory region variant
rs14358997233:186,760,559T/Cuncertain significance
rs7769084933:186,760,560C/Guncertain significance
rs3686321243:186,760,703C/Tuncertain significance
rs7727430223:186,760,871A/Guncertain significance
rs1388246193:186,760,912C/Tuncertain significance
rs7712150543:186,760,960G/Cuncertain significance
rs7605468083:186,769,109C/Auncertain significance
rs1398185683:186,769,120C/Guncertain significance
rs7587116033:186,790,679A/Cuncertain significance
rs1461678523:186,790,680A/Guncertain significance
rs1826643433:186,790,719A/Guncertain significance
rs22396123:186,793,242G/Aintron variant
rs24739492143:186,793,367A/Guncertain significance
rs1888790993:186,793,560C/Tuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.