Product Details

Primer Sequences: Log in to view
Primer Chromosome Location: Chr.9: 35737204-35737471 on Build GRCh38 View in UCSC browser
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
1187718	c.2590G>A	p.E864K	Chr.9: 35737363-35737363 on Build GRCh38
6234282	c.2581C>A	p.Q861K	Chr.9: 35737372-35737372 on Build GRCh38
7085157	c.2553C>A	p.T851T	Chr.9: 35737400-35737400 on Build GRCh38
226217	c.2513C>T	p.T838I	Chr.9: 35737440-35737440 on Build GRCh38
2774618	c.2549G>A	p.R850H	Chr.9: 35737404-35737404 on Build GRCh38
1253102	c.2520G>T	p.E840D	Chr.9: 35737433-35737433 on Build GRCh38
2774616	c.2608C>T	p.R870*	Chr.9: 35737345-35737345 on Build GRCh38
6007499	c.2767C>A	p.P923T	Chr.9: 35737204-35737204 on Build GRCh38
7085158	c.2571C>A	p.T857T	Chr.9: 35737400-35737400 on Build GRCh38
4619926	c.2757T>C	p.P919P	Chr.9: 35737214-35737214 on Build GRCh38
6517089	c.2621C>T	p.S874L	Chr.9: 35737332-35737332 on Build GRCh38
4611302	c.2758_2762delATGTT	p.M920fs*>13	Chr.9: 35737209-35737213 on Build GRCh38
7264567	c.2506-1G>T	p.?	Chr.9: 35737448-35737448 on Build GRCh38
6669663	c.2676G>A	p.Q892Q	Chr.9: 35737277-35737277 on Build GRCh38
4686507	c.2581C>T	p.R861C	Chr.9: 35737390-35737390 on Build GRCh38
6234283	c.2599C>A	p.Q867K	Chr.9: 35737372-35737372 on Build GRCh38
4619925	c.2739T>C	p.P913P	Chr.9: 35737214-35737214 on Build GRCh38
7264568	c.2524-1G>T	p.?	Chr.9: 35737448-35737448 on Build GRCh38
4768584	c.2646C>A	p.A882A	Chr.9: 35737325-35737325 on Build GRCh38
4611301	c.2740_2744delATGTT	p.M914fs*>13	Chr.9: 35737209-35737213 on Build GRCh38
4686506	c.2563C>T	p.R855C	Chr.9: 35737390-35737390 on Build GRCh38
6517090	c.2639C>T	p.S880L	Chr.9: 35737332-35737332 on Build GRCh38
307443	c.2674C>G	p.Q892E	Chr.9: 35737279-35737279 on Build GRCh38
4007188	c.2727C>G	p.V909V	Chr.9: 35737244-35737244 on Build GRCh38
6007498	c.2749C>A	p.P917T	Chr.9: 35737204-35737204 on Build GRCh38
4768583	c.2628C>A	p.A876A	Chr.9: 35737325-35737325 on Build GRCh38
4374196	c.2567G>A	p.R856H	Chr.9: 35737404-35737404 on Build GRCh38
6669664	c.2694G>A	p.Q898Q	Chr.9: 35737277-35737277 on Build GRCh38
4374193	c.2626C>T	p.R876*	Chr.9: 35737345-35737345 on Build GRCh38
1756161	c.2709C>G	p.V903V	Chr.9: 35737244-35737244 on Build GRCh38

SNP Detail

SNP ID	Chromosome Location
rs778915506	Chr.9: 35737338-35737338 on Build GRCh38
rs772222858	Chr.9: 35737342-35737342 on Build GRCh38
rs758931760	Chr.9: 35737399-35737399 on Build GRCh38
rs527889820	Chr.9: 35737370-35737370 on Build GRCh38
rs777597003	Chr.9: 35737316-35737316 on Build GRCh38
rs374335041	Chr.9: 35737390-35737390 on Build GRCh38
rs762268140	Chr.9: 35737389-35737389 on Build GRCh38
rs764591465	Chr.9: 35737233-35737233 on Build GRCh38
rs765980132	Chr.9: 35737240-35737240 on Build GRCh38
rs780570830	Chr.9: 35737438-35737439 on Build GRCh38
rs145866042	Chr.9: 35737379-35737379 on Build GRCh38
rs752428620	Chr.9: 35737291-35737291 on Build GRCh38
rs752274637	Chr.9: 35737405-35737405 on Build GRCh38
rs1044431904	Chr.9: 35737382-35737382 on Build GRCh38
rs757252849	Chr.9: 35737336-35737336 on Build GRCh38
rs377732636	Chr.9: 35737402-35737402 on Build GRCh38
rs746258856	Chr.9: 35737227-35737228 on Build GRCh38
rs763873057	Chr.9: 35737418-35737418 on Build GRCh38
rs887803349	Chr.9: 35737349-35737349 on Build GRCh38
rs369511568	Chr.9: 35737356-35737356 on Build GRCh38
rs775542106	Chr.9: 35737343-35737343 on Build GRCh38
rs745879966	Chr.9: 35737340-35737340 on Build GRCh38
rs377440003	Chr.9: 35737290-35737290 on Build GRCh38
rs755875971	Chr.9: 35737312-35737312 on Build GRCh38
rs925121854	Chr.9: 35737322-35737322 on Build GRCh38
rs777255160	Chr.9: 35737235-35737235 on Build GRCh38
rs754527190	Chr.9: 35737251-35737251 on Build GRCh38
rs762468037	Chr.9: 35737236-35737236 on Build GRCh38
rs892032709	Chr.9: 35737417-35737417 on Build GRCh38
rs199510198	Chr.9: 35737344-35737344 on Build GRCh38
rs191410452	Chr.9: 35737398-35737398 on Build GRCh38
rs1012890540	Chr.9: 35737373-35737373 on Build GRCh38
rs749211700	Chr.9: 35737318-35737318 on Build GRCh38
rs398123015	Chr.9: 35737335-35737335 on Build GRCh38
rs912331543	Chr.9: 35737252-35737252 on Build GRCh38
rs760907481	Chr.9: 35737224-35737224 on Build GRCh38
rs918460586	Chr.9: 35737294-35737294 on Build GRCh38
rs756367976	Chr.9: 35737238-35737239 on Build GRCh38
rs138519801	Chr.9: 35737413-35737413 on Build GRCh38
rs767031907	Chr.9: 35737254-35737254 on Build GRCh38

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