Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 155235319-155235815 on Build GRCh38
Format
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
Primer Designer™ Tool Quick Reference
Ampliseq ID's

Gene Details

Gene Symbol
GBA
Entrez Gene ID
2629
Gene Name
glucosylceramidase beta
Gene Aliases
GBA1, GCB, GLUC
UniGene
Hs.282997
Gene Chromosome Location
Chr.1: 155234448-155244862 on Build GRCh38
Transcripts
NM_000157.3 NM_001005741.2 NM_001005742.2 NM_001171811.1 NM_001171812.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4463116 c.1277C>T p.P426L Chr.1: 155235792-155235792 on Build GRCh38
4022961 c.1267G>T p.A423S Chr.1: 155235802-155235802 on Build GRCh38
463092 c.1367T>A p.F456Y Chr.1: 155235702-155235702 on Build GRCh38
3474893 c.1319C>T p.P440L Chr.1: 155235750-155235750 on Build GRCh38
5992377 c.1309G>T p.V437F Chr.1: 155235760-155235760 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs426516 Chr.1: 155235412-155235412 on Build GRCh38
rs78802049 Chr.1: 155235725-155235725 on Build GRCh38
rs772140702 Chr.1: 155235767-155235767 on Build GRCh38
rs79185870 Chr.1: 155235701-155235701 on Build GRCh38
rs778798290 Chr.1: 155235764-155235764 on Build GRCh38
rs75385858 Chr.1: 155235765-155235765 on Build GRCh38
rs202221385 Chr.1: 155235732-155235732 on Build GRCh38
rs761062637 Chr.1: 155235659-155235659 on Build GRCh38
rs75564605 Chr.1: 155235747-155235747 on Build GRCh38
rs994723035 Chr.1: 155235792-155235792 on Build GRCh38
rs750193229 Chr.1: 155235722-155235722 on Build GRCh38
rs80020805 Chr.1: 155235704-155235704 on Build GRCh38
rs775664680 Chr.1: 155235361-155235361 on Build GRCh38
rs906266554 Chr.1: 155235746-155235746 on Build GRCh38
rs75090908 Chr.1: 155235755-155235755 on Build GRCh38
rs80356769 Chr.1: 155235772-155235772 on Build GRCh38
rs75243000 Chr.1: 155235762-155235762 on Build GRCh38
rs754798497 Chr.1: 155235737-155235737 on Build GRCh38
rs552762192 Chr.1: 155235478-155235478 on Build GRCh38
rs1800473 Chr.1: 155235540-155235540 on Build GRCh38
rs1064651 Chr.1: 155235727-155235727 on Build GRCh38
rs774554048 Chr.1: 155235347-155235347 on Build GRCh38
rs758671508 Chr.1: 155235349-155235350 on Build GRCh38
rs772349239 Chr.1: 155235358-155235358 on Build GRCh38
rs149171124 Chr.1: 155235790-155235790 on Build GRCh38
rs775661835 Chr.1: 155235768-155235768 on Build GRCh38
rs764486586 Chr.1: 155235661-155235661 on Build GRCh38
rs919900295 Chr.1: 155235448-155235448 on Build GRCh38
rs1011861500 Chr.1: 155235654-155235654 on Build GRCh38
rs542894715 Chr.1: 155235626-155235626 on Build GRCh38
rs77738682 Chr.1: 155235777-155235777 on Build GRCh38
rs757930613 Chr.1: 155235723-155235723 on Build GRCh38
rs944242689 Chr.1: 155235512-155235512 on Build GRCh38
rs77369218 Chr.1: 155235726-155235726 on Build GRCh38
rs781189218 Chr.1: 155235751-155235751 on Build GRCh38
rs2974924 Chr.1: 155235379-155235379 on Build GRCh38
rs121908295 Chr.1: 155235708-155235708 on Build GRCh38
rs189413365 Chr.1: 155235571-155235571 on Build GRCh38
rs1053388016 Chr.1: 155235612-155235612 on Build GRCh38
rs74598136 Chr.1: 155235750-155235750 on Build GRCh38
rs577592360 Chr.1: 155235479-155235479 on Build GRCh38
rs78346899 Chr.1: 155235716-155235716 on Build GRCh38
rs572918635 Chr.1: 155235668-155235668 on Build GRCh38
rs79032178 Chr.1: 155235758-155235758 on Build GRCh38
rs747284798 Chr.1: 155235769-155235769 on Build GRCh38
rs548372618 Chr.1: 155235389-155235389 on Build GRCh38
rs762367232 Chr.1: 155235672-155235672 on Build GRCh38
rs569191841 Chr.1: 155235344-155235344 on Build GRCh38
rs766764173 Chr.1: 155235632-155235634 on Build GRCh38
rs80356768 Chr.1: 155235752-155235806 on Build GRCh38
rs931386996 Chr.1: 155235453-155235453 on Build GRCh38
rs183510604 Chr.1: 155235409-155235409 on Build GRCh38
rs121908310 Chr.1: 155235760-155235760 on Build GRCh38
rs201499639 Chr.1: 155235791-155235791 on Build GRCh38
rs12752133 Chr.1: 155235587-155235587 on Build GRCh38
rs554812953 Chr.1: 155235660-155235660 on Build GRCh38
rs935574359 Chr.1: 155235607-155235607 on Build GRCh38
rs777049786 Chr.1: 155235776-155235776 on Build GRCh38
rs77035024 Chr.1: 155235719-155235719 on Build GRCh38
rs76910485 Chr.1: 155235780-155235780 on Build GRCh38
rs1026993108 Chr.1: 155235794-155235794 on Build GRCh38
rs1057519357 Chr.1: 155235792-155235792 on Build GRCh38
rs74752878 Chr.1: 155235699-155235699 on Build GRCh38
rs377666098 Chr.1: 155235343-155235343 on Build GRCh38

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