Product Details

Primer Sequences
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Primer Chromosome Location
Chr.9: 35739223-35739724 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
3664341 c.1705+8T>C p.? Chr.9: 35739307-35739307 on Build GRCh38
5977227 c.1613G>A p.R538H Chr.9: 35739407-35739407 on Build GRCh38
1624967 c.1576C>G p.L526V Chr.9: 35739634-35739634 on Build GRCh38
272713 c.1535A>G p.H512R Chr.9: 35739675-35739675 on Build GRCh38
3664343 c.1594C>G p.L532V Chr.9: 35739634-35739634 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs906195263 Chr.9: 35739612-35739612 on Build GRCh38
rs935465717 Chr.9: 35739435-35739435 on Build GRCh38
rs765643285 Chr.9: 35739314-35739314 on Build GRCh38
rs3829081 Chr.9: 35739456-35739456 on Build GRCh38
rs773390426 Chr.9: 35739438-35739438 on Build GRCh38
rs947715119 Chr.9: 35739550-35739550 on Build GRCh38
rs528936013 Chr.9: 35739509-35739509 on Build GRCh38
rs758248014 Chr.9: 35739595-35739595 on Build GRCh38
rs201259172 Chr.9: 35739665-35739665 on Build GRCh38
rs777115461 Chr.9: 35739528-35739528 on Build GRCh38
rs1029767943 Chr.9: 35739582-35739582 on Build GRCh38
rs763757047 Chr.9: 35739466-35739466 on Build GRCh38
rs757000051 Chr.9: 35739417-35739417 on Build GRCh38
rs375641704 Chr.9: 35739614-35739614 on Build GRCh38
rs376867651 Chr.9: 35739657-35739657 on Build GRCh38
rs977241642 Chr.9: 35739382-35739382 on Build GRCh38
rs776622136 Chr.9: 35739627-35739627 on Build GRCh38
rs769956055 Chr.9: 35739696-35739696 on Build GRCh38
rs374850038 Chr.9: 35739294-35739294 on Build GRCh38
rs748239761 Chr.9: 35739645-35739645 on Build GRCh38
rs775368633 Chr.9: 35739290-35739290 on Build GRCh38
rs964110202 Chr.9: 35739524-35739524 on Build GRCh38
rs372401205 Chr.9: 35739613-35739613 on Build GRCh38
rs780807968 Chr.9: 35739624-35739624 on Build GRCh38
rs142883889 Chr.9: 35739658-35739658 on Build GRCh38
rs779331792 Chr.9: 35739681-35739682 on Build GRCh38
rs754848763 Chr.9: 35739682-35739682 on Build GRCh38
rs757106092 Chr.9: 35739352-35739352 on Build GRCh38
rs768769126 Chr.9: 35739407-35739407 on Build GRCh38
rs769952538 Chr.9: 35739646-35739646 on Build GRCh38
rs745604006 Chr.9: 35739594-35739594 on Build GRCh38
rs139815660 Chr.9: 35739326-35739326 on Build GRCh38
rs772189855 Chr.9: 35739284-35739284 on Build GRCh38
rs748184614 Chr.9: 35739695-35739695 on Build GRCh38
rs965754773 Chr.9: 35739680-35739680 on Build GRCh38
rs371346957 Chr.9: 35739361-35739361 on Build GRCh38
rs578093533 Chr.9: 35739280-35739280 on Build GRCh38
rs115051365 Chr.9: 35739670-35739670 on Build GRCh38
rs370585884 Chr.9: 35739293-35739293 on Build GRCh38
rs776875801 Chr.9: 35739295-35739295 on Build GRCh38
rs774410024 Chr.9: 35739269-35739269 on Build GRCh38
rs775523082 Chr.9: 35739363-35739363 on Build GRCh38
rs368787221 Chr.9: 35739444-35739444 on Build GRCh38
rs755475153 Chr.9: 35739395-35739395 on Build GRCh38
rs145651113 Chr.9: 35739671-35739671 on Build GRCh38
rs755664478 Chr.9: 35739457-35739457 on Build GRCh38
rs750933950 Chr.9: 35739316-35739316 on Build GRCh38
rs541683765 Chr.9: 35739264-35739264 on Build GRCh38
rs770890790 Chr.9: 35739268-35739268 on Build GRCh38
rs548706029 Chr.9: 35739536-35739536 on Build GRCh38
rs939138953 Chr.9: 35739253-35739253 on Build GRCh38
rs747024085 Chr.9: 35739395-35739395 on Build GRCh38
rs941656065 Chr.9: 35739626-35739626 on Build GRCh38
rs765446374 Chr.9: 35739418-35739418 on Build GRCh38
rs753538872 Chr.9: 35739468-35739468 on Build GRCh38
rs148982744 Chr.9: 35739669-35739669 on Build GRCh38
rs776818180 Chr.9: 35739408-35739408 on Build GRCh38
rs1013910540 Chr.9: 35739586-35739586 on Build GRCh38
rs762140308 Chr.9: 35739312-35739312 on Build GRCh38
rs752097163 Chr.9: 35739333-35739333 on Build GRCh38
rs199920123 Chr.9: 35739664-35739664 on Build GRCh38
rs915473905 Chr.9: 35739529-35739529 on Build GRCh38
rs149803758 Chr.9: 35739358-35739358 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
rs374434259 Chr.9: 35739440-35739440 on Build GRCh38
rs368589409 Chr.9: 35739622-35739622 on Build GRCh38
rs371611090 Chr.9: 35739649-35739649 on Build GRCh38
rs367589812 Chr.9: 35739344-35739344 on Build GRCh38
rs1044782216 Chr.9: 35739553-35739553 on Build GRCh38
rs564627563 Chr.9: 35739265-35739265 on Build GRCh38
rs567502691 Chr.9: 35739679-35739679 on Build GRCh38
rs11539261 Chr.9: 35739355-35739355 on Build GRCh38
rs763195929 Chr.9: 35739650-35739650 on Build GRCh38
rs748999427 Chr.9: 35739346-35739346 on Build GRCh38
rs1018215095 Chr.9: 35739317-35739317 on Build GRCh38
rs760188888 Chr.9: 35739663-35739663 on Build GRCh38
rs376682234 Chr.9: 35739697-35739697 on Build GRCh38
rs763398142 Chr.9: 35739439-35739439 on Build GRCh38
rs980398696 Chr.9: 35739629-35739629 on Build GRCh38
rs1056287598 Chr.9: 35739255-35739255 on Build GRCh38
rs138330598 Chr.9: 35739327-35739327 on Build GRCh38

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