BTN1A1

butyrophilin subfamily 1 member A1

Summary

Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]

Known Variants30 total

rsidPosition (GRCh37)AllelesClassClinVar
rs728437846:26,498,758G/A
rs132202616:26,499,185C/Tupstream gene variant
rs131949846:26,500,563G/Tupstream gene variant
rs7698547066:26,501,527C/Tuncertain significance
rs7583633156:26,501,564T/Cuncertain significance
rs17638014936:26,501,907A/Tuncertain significance
rs3737544476:26,501,920T/Cuncertain significance
rs7784009246:26,501,943A/Guncertain significance
rs7503581996:26,501,977G/Cuncertain significance
rs7606480726:26,502,052G/Cuncertain significance
rs25334068806:26,502,158G/Tuncertain significance
rs7565184886:26,505,222C/Tuncertain significance
rs14544144206:26,505,237C/Guncertain significance
rs7465784236:26,505,270G/Cuncertain significance
rs7509644726:26,505,351G/Tuncertain significance
rs10423198336:26,506,965T/Cuncertain significance
rs7500297876:26,506,986T/Cuncertain significance
rs13540202116:26,507,016A/Guncertain significance
rs794025746:26,508,194A/Cbenign
rs412679316:26,508,290A/Gbenign
rs1489969806:26,508,869C/Tuncertain significance
rs14779199186:26,508,923A/Guncertain significance
rs7647610956:26,509,073C/Auncertain significance
rs617321586:26,509,167A/Guncertain significance
rs7457239156:26,509,317C/Tuncertain significance
rs355557956:26,509,382C/Tmissense variant
rs7637785496:26,509,385A/Tuncertain significance
rs1157746466:26,509,392G/Abenign
rs10566676:26,510,564T/C3 prime UTR variant
rs93798826:26,511,076C/Tdownstream gene variant

Gene information from NCBI Gene. Variant classifications from ClinVar.