Product Details

Primer Sequences
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Primer Chromosome Location
Chr.9: 35739533-35739774 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
GBA2
Entrez Gene ID
57704
Gene Name
glucosylceramidase beta 2
Gene Aliases
AD035, NLGase, SPG46
UniGene
Hs.443134
Gene Chromosome Location
Chr.9: 35736862-35749255 on Build GRCh38
Transcripts
NM_020944.2 XM_005251526.4 XM_006716809.3 XM_011517973.2 XM_017014937.1 XM_017014938.1 XM_017014939.1 XM_017014940.1 XM_017014941.1 XM_017014942.1 XM_017014943.1 XM_017014944.1 XM_017014945.1 XM_017014946.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6500529 c.1483G>A p.D495N Chr.9: 35739745-35739745 on Build GRCh38
6500530 c.1465G>A p.D489N Chr.9: 35739745-35739745 on Build GRCh38
5136384 c.1532_1533delGT p.C511fs*16 Chr.9: 35739677-35739678 on Build GRCh38
6669687 c.1500G>A p.W500* Chr.9: 35739728-35739728 on Build GRCh38
6115939 c.1447G>C p.E483Q Chr.9: 35739763-35739763 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs145651113 Chr.9: 35739671-35739671 on Build GRCh38
rs906195263 Chr.9: 35739612-35739612 on Build GRCh38
rs750035212 Chr.9: 35739724-35739724 on Build GRCh38
rs764854323 Chr.9: 35739723-35739723 on Build GRCh38
rs758248014 Chr.9: 35739595-35739595 on Build GRCh38
rs201259172 Chr.9: 35739665-35739665 on Build GRCh38
rs1029767943 Chr.9: 35739582-35739582 on Build GRCh38
rs35818148 Chr.9: 35739715-35739715 on Build GRCh38
rs376867651 Chr.9: 35739657-35739657 on Build GRCh38
rs375641704 Chr.9: 35739614-35739614 on Build GRCh38
rs535916550 Chr.9: 35739712-35739712 on Build GRCh38
rs776622136 Chr.9: 35739627-35739627 on Build GRCh38
rs371251592 Chr.9: 35739703-35739703 on Build GRCh38
rs769956055 Chr.9: 35739696-35739696 on Build GRCh38
rs748239761 Chr.9: 35739645-35739645 on Build GRCh38
rs941656065 Chr.9: 35739626-35739626 on Build GRCh38
rs761380649 Chr.9: 35739716-35739716 on Build GRCh38
rs372401205 Chr.9: 35739613-35739613 on Build GRCh38
rs780807968 Chr.9: 35739624-35739624 on Build GRCh38
rs779331792 Chr.9: 35739681-35739682 on Build GRCh38
rs142883889 Chr.9: 35739658-35739658 on Build GRCh38
rs148982744 Chr.9: 35739669-35739669 on Build GRCh38
rs754848763 Chr.9: 35739682-35739682 on Build GRCh38
rs1013910540 Chr.9: 35739586-35739586 on Build GRCh38
rs769952538 Chr.9: 35739646-35739646 on Build GRCh38
rs745604006 Chr.9: 35739594-35739594 on Build GRCh38
rs759994346 Chr.9: 35739705-35739705 on Build GRCh38
rs199920123 Chr.9: 35739664-35739664 on Build GRCh38
rs373065546 Chr.9: 35739579-35739579 on Build GRCh38
rs778643586 Chr.9: 35739585-35739585 on Build GRCh38
rs781128831 Chr.9: 35739693-35739693 on Build GRCh38
rs748184614 Chr.9: 35739695-35739695 on Build GRCh38
rs965754773 Chr.9: 35739680-35739680 on Build GRCh38
rs368589409 Chr.9: 35739622-35739622 on Build GRCh38
rs371611090 Chr.9: 35739649-35739649 on Build GRCh38
rs115051365 Chr.9: 35739670-35739670 on Build GRCh38
rs774713200 Chr.9: 35739704-35739704 on Build GRCh38
rs762597578 Chr.9: 35739743-35739743 on Build GRCh38
rs567502691 Chr.9: 35739679-35739679 on Build GRCh38
rs763195929 Chr.9: 35739650-35739650 on Build GRCh38
rs760188888 Chr.9: 35739663-35739663 on Build GRCh38
rs376682234 Chr.9: 35739697-35739697 on Build GRCh38
rs980398696 Chr.9: 35739629-35739629 on Build GRCh38

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