Product Details

Primer Sequences

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Primer Chromosome Location

Chr.9: 35738239-35738480 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

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Cosmic ID	Mutation	AA	Transcript Location
7096137	c.2157C>T	p.L719L	Chr.9: 35738272-35738272 on Build GRCh38
1674484	c.2120G>T	p.G707V	Chr.9: 35738309-35738309 on Build GRCh38
4870549	c.2089C>A	p.L697M	Chr.9: 35738358-35738358 on Build GRCh38
4889775	c.2150C>G	p.S717C	Chr.9: 35738279-35738279 on Build GRCh38
3745994	c.2145T>G	p.F715L	Chr.9: 35738284-35738284 on Build GRCh38
3745992	c.2145T>G	p.F715L	Chr.9: 35738284-35738284 on Build GRCh38
7246940	c.2166C>A	p.G722G	Chr.9: 35738263-35738263 on Build GRCh38
3745993	c.2163T>G	p.F721L	Chr.9: 35738284-35738284 on Build GRCh38
4889777	c.2150C>G	p.S717C	Chr.9: 35738279-35738279 on Build GRCh38
3745990	c.2174T>C	p.L725P	Chr.9: 35738273-35738273 on Build GRCh38
7077696	c.2066G>A	p.G689E	Chr.9: 35738363-35738363 on Build GRCh38
4889776	c.2168C>G	p.S723C	Chr.9: 35738279-35738279 on Build GRCh38
4870550	c.2071C>A	p.L691M	Chr.9: 35738358-35738358 on Build GRCh38
4600780	c.2201G>A	p.R734K	Chr.9: 35738246-35738246 on Build GRCh38
7096139	c.2157C>T	p.L719L	Chr.9: 35738272-35738272 on Build GRCh38
7077695	c.2084G>A	p.G695E	Chr.9: 35738363-35738363 on Build GRCh38
1316051	c.2065G>A	p.G689R	Chr.9: 35738364-35738364 on Build GRCh38
4600782	c.7G>A	p.D3N	Chr.9: 35738246-35738246 on Build GRCh38
5743328	c.2081C>T	p.A694V	Chr.9: 35738348-35738348 on Build GRCh38
7246942	c.2166C>A	p.G722G	Chr.9: 35738263-35738263 on Build GRCh38
7096138	c.2175C>T	p.L725L	Chr.9: 35738272-35738272 on Build GRCh38
1579686	c.2089delG	p.A697fs*2	Chr.9: 35738340-35738340 on Build GRCh38
4600779	c.2183G>A	p.R728K	Chr.9: 35738246-35738246 on Build GRCh38
7246941	c.2184C>A	p.G728G	Chr.9: 35738263-35738263 on Build GRCh38
6669665	c.2108C>T	p.A703V	Chr.9: 35738321-35738321 on Build GRCh38
4600781	c.2183G>A	p.R728K	Chr.9: 35738246-35738246 on Build GRCh38
6669667	c.2108C>T	p.A703V	Chr.9: 35738321-35738321 on Build GRCh38
4374204	c.2138G>T	p.G713V	Chr.9: 35738309-35738309 on Build GRCh38
5743330	c.2081C>T	p.A694V	Chr.9: 35738348-35738348 on Build GRCh38
4857400	c.2080G>A	p.A694T	Chr.9: 35738349-35738349 on Build GRCh38
6669666	c.2126C>T	p.A709V	Chr.9: 35738321-35738321 on Build GRCh38
1108767	c.2071C>A	p.L691M	Chr.9: 35738358-35738358 on Build GRCh38
360497	c.2164G>T	p.G722C	Chr.9: 35738265-35738265 on Build GRCh38
1674483	c.2120G>T	p.G707V	Chr.9: 35738309-35738309 on Build GRCh38
5743329	c.2099C>T	p.A700V	Chr.9: 35738348-35738348 on Build GRCh38
4857399	c.2098G>A	p.A700T	Chr.9: 35738349-35738349 on Build GRCh38
7077694	c.2066G>A	p.G689E	Chr.9: 35738363-35738363 on Build GRCh38
3745989	c.2156T>C	p.L719P	Chr.9: 35738273-35738273 on Build GRCh38
3745991	c.2156T>C	p.L719P	Chr.9: 35738273-35738273 on Build GRCh38
487434	c.2080G>A	p.A694T	Chr.9: 35738349-35738349 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs960041201	Chr.9: 35738296-35738296 on Build GRCh38
rs113721604	Chr.9: 35738263-35738263 on Build GRCh38
rs911416899	Chr.9: 35738454-35738454 on Build GRCh38
rs757918567	Chr.9: 35738270-35738270 on Build GRCh38
rs774656141	Chr.9: 35738363-35738363 on Build GRCh38
rs761919429	Chr.9: 35738444-35738444 on Build GRCh38
rs146034295	Chr.9: 35738271-35738271 on Build GRCh38
rs771002013	Chr.9: 35738356-35738356 on Build GRCh38
rs1011987148	Chr.9: 35738328-35738328 on Build GRCh38
rs970543034	Chr.9: 35738431-35738431 on Build GRCh38
rs748072207	Chr.9: 35738426-35738426 on Build GRCh38
rs749892510	Chr.9: 35738396-35738396 on Build GRCh38
rs746728147	Chr.9: 35738308-35738308 on Build GRCh38
rs769850454	Chr.9: 35738331-35738331 on Build GRCh38
rs765904160	Chr.9: 35738402-35738402 on Build GRCh38
rs751265524	Chr.9: 35738414-35738414 on Build GRCh38
rs754829622	Chr.9: 35738320-35738320 on Build GRCh38
rs757945302	Chr.9: 35738399-35738399 on Build GRCh38
rs773344585	Chr.9: 35738333-35738333 on Build GRCh38
rs754706242	Chr.9: 35738419-35738419 on Build GRCh38
rs989227836	Chr.9: 35738330-35738330 on Build GRCh38
rs759783962	Chr.9: 35738364-35738364 on Build GRCh38
rs749376850	Chr.9: 35738341-35738341 on Build GRCh38
rs781075917	Chr.9: 35738321-35738321 on Build GRCh38
rs761325530	Chr.9: 35738391-35738391 on Build GRCh38
rs764699917	Chr.9: 35738395-35738395 on Build GRCh38
rs781022451	Chr.9: 35738420-35738420 on Build GRCh38
rs750088946	Chr.9: 35738268-35738268 on Build GRCh38
rs748131725	Chr.9: 35738329-35738329 on Build GRCh38
rs751675685	Chr.9: 35738337-35738349 on Build GRCh38
rs947498456	Chr.9: 35738430-35738430 on Build GRCh38
rs776121281	Chr.9: 35738375-35738375 on Build GRCh38
rs764892022	Chr.9: 35738267-35738267 on Build GRCh38
rs202088139	Chr.9: 35738374-35738374 on Build GRCh38

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