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/T—uncertain significance
rs7583633156:26,501,564T/C—uncertain significance
rs17638014936:26,501,907A/T—uncertain significance
rs3737544476:26,501,920T/C—uncertain significance
rs7784009246:26,501,943A/G—uncertain significance
rs7503581996:26,501,977G/C—uncertain significance
rs7606480726:26,502,052G/C—uncertain significance
rs25334068806:26,502,158G/T—uncertain significance
rs7565184886:26,505,222C/T—uncertain significance
rs14544144206:26,505,237C/G—uncertain significance
rs7465784236:26,505,270G/C—uncertain significance
rs7509644726:26,505,351G/T—uncertain significance
rs10423198336:26,506,965T/C—uncertain significance
rs7500297876:26,506,986T/C—uncertain significance
rs13540202116:26,507,016A/G—uncertain significance
rs794025746:26,508,194A/C—benign
rs412679316:26,508,290A/G—benign
rs1489969806:26,508,869C/T—uncertain significance
rs14779199186:26,508,923A/G—uncertain significance
rs7647610956:26,509,073C/A—uncertain significance
rs617321586:26,509,167A/G—uncertain significance
rs7457239156:26,509,317C/T—uncertain significance
rs355557956:26,509,382C/Tmissense variant—
rs7637785496:26,509,385A/T—uncertain significance
rs1157746466:26,509,392G/A—benign
rs10566676:26,510,564T/C3 prime UTR variant—
rs93798826:26,511,076C/Tdownstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.