Product Details

Primer Sequences

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Primer Chromosome Location

Chr.9: 35737660-35738158 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
3848489	c.2495T>C	p.M832T	Chr.9: 35737758-35737758 on Build GRCh38
4872310	c.2408C>T	p.A803V	Chr.9: 35737863-35737863 on Build GRCh38
3848495	c.2469T>G	p.G823G	Chr.9: 35737784-35737784 on Build GRCh38
5001604	c.2263G>T	p.A755S	Chr.9: 35738087-35738087 on Build GRCh38
3664335	c.2371A>G	p.I791V	Chr.9: 35737900-35737900 on Build GRCh38
2774636	c.118G>C	p.D40H	Chr.9: 35738135-35738135 on Build GRCh38
3907234	c.2478C>T	p.Y826Y	Chr.9: 35737775-35737775 on Build GRCh38
4872311	c.2390C>T	p.A797V	Chr.9: 35737863-35737863 on Build GRCh38
6669709	c.2463G>T	p.W821C	Chr.9: 35737790-35737790 on Build GRCh38
1624963	c.256A>G	p.I86V	Chr.9: 35737900-35737900 on Build GRCh38
1739526	c.2200C>T	p.R734C	Chr.9: 35738150-35738150 on Build GRCh38
3848496	c.372T>G	p.G124G	Chr.9: 35737784-35737784 on Build GRCh38
5001605	c.2281G>T	p.A761S	Chr.9: 35738087-35738087 on Build GRCh38
3848494	c.2487T>G	p.G829G	Chr.9: 35737784-35737784 on Build GRCh38
3433130	c.130C>T	p.R44W	Chr.9: 35738123-35738123 on Build GRCh38
2774635	c.2215G>C	p.D739H	Chr.9: 35738135-35738135 on Build GRCh38
3907236	c.2413C>T	p.Q805*	Chr.9: 35737840-35737840 on Build GRCh38
6669708	c.2481G>T	p.W827C	Chr.9: 35737790-35737790 on Build GRCh38
3907233	c.2496C>T	p.Y832Y	Chr.9: 35737775-35737775 on Build GRCh38
5001606	c.2263G>T	p.A755S	Chr.9: 35738087-35738087 on Build GRCh38
3907235	c.381C>T	p.Y127Y	Chr.9: 35737775-35737775 on Build GRCh38
1462278	c.2446C>T	p.Q816*	Chr.9: 35737807-35737807 on Build GRCh38
7369265	c.2452G>A	p.D818N	Chr.9: 35737801-35737801 on Build GRCh38
4752714	c.137A>C	p.Q46P	Chr.9: 35738116-35738116 on Build GRCh38
7369264	c.2470G>A	p.D824N	Chr.9: 35737801-35737801 on Build GRCh38
6669710	c.366G>T	p.W122C	Chr.9: 35737790-35737790 on Build GRCh38
1624961	c.2353A>G	p.I785V	Chr.9: 35737900-35737900 on Build GRCh38
4752713	c.2234A>C	p.Q745P	Chr.9: 35738116-35738116 on Build GRCh38
3367707	c.2300A>G	p.E767G	Chr.9: 35738050-35738050 on Build GRCh38
5001607	c.166G>T	p.A56S	Chr.9: 35738087-35738087 on Build GRCh38
4752711	c.2234A>C	p.Q745P	Chr.9: 35738116-35738116 on Build GRCh38
3367706	c.2318A>G	p.E773G	Chr.9: 35738050-35738050 on Build GRCh38
1624959	c.2431G>T	p.D811Y	Chr.9: 35737822-35737822 on Build GRCh38
3848493	c.2469T>G	p.G823G	Chr.9: 35737784-35737784 on Build GRCh38
3848491	c.2495T>C	p.M832T	Chr.9: 35737758-35737758 on Build GRCh38
3907238	c.2413C>T	p.Q805*	Chr.9: 35737840-35737840 on Build GRCh38
3907232	c.2478C>T	p.Y826Y	Chr.9: 35737775-35737775 on Build GRCh38
1739527	c.103C>T	p.R35C	Chr.9: 35738150-35738150 on Build GRCh38
1624960	c.334G>T	p.D112Y	Chr.9: 35737822-35737822 on Build GRCh38
3848492	c.398T>C	p.M133T	Chr.9: 35737758-35737758 on Build GRCh38
3848490	c.2513T>C	p.M838T	Chr.9: 35737758-35737758 on Build GRCh38
3367708	c.203A>G	p.E68G	Chr.9: 35738050-35738050 on Build GRCh38
2774634	c.2215G>C	p.D739H	Chr.9: 35738135-35738135 on Build GRCh38
3907237	c.2431C>T	p.Q811*	Chr.9: 35737840-35737840 on Build GRCh38
3907239	c.316C>T	p.Q106*	Chr.9: 35737840-35737840 on Build GRCh38
7369263	c.2452G>A	p.D818N	Chr.9: 35737801-35737801 on Build GRCh38
4872312	c.293C>T	p.A98V	Chr.9: 35737863-35737863 on Build GRCh38
4785958	c.349C>T	p.Q117*	Chr.9: 35737807-35737807 on Build GRCh38
4752712	c.2252A>C	p.Q751P	Chr.9: 35738116-35738116 on Build GRCh38
7369266	c.355G>A	p.D119N	Chr.9: 35737801-35737801 on Build GRCh38
1108765	c.2390C>T	p.A797V	Chr.9: 35737863-35737863 on Build GRCh38
3433127	c.2227C>T	p.R743W	Chr.9: 35738123-35738123 on Build GRCh38
3433129	c.2227C>T	p.R743W	Chr.9: 35738123-35738123 on Build GRCh38
4785956	c.2464C>T	p.Q822*	Chr.9: 35737807-35737807 on Build GRCh38
6308133	c.466T>G	p.S156A	Chr.9: 35737690-35737690 on Build GRCh38
3367705	c.2300A>G	p.E767G	Chr.9: 35738050-35738050 on Build GRCh38
1624958	c.2431G>T	p.D811Y	Chr.9: 35737822-35737822 on Build GRCh38
3433128	c.2245C>T	p.R749W	Chr.9: 35738123-35738123 on Build GRCh38
4374200	c.2233G>C	p.D745H	Chr.9: 35738135-35738135 on Build GRCh38
4785957	c.2446C>T	p.Q816*	Chr.9: 35737807-35737807 on Build GRCh38
3664334	c.2449G>T	p.D817Y	Chr.9: 35737822-35737822 on Build GRCh38
6669707	c.2463G>T	p.W821C	Chr.9: 35737790-35737790 on Build GRCh38
1624962	c.2353A>G	p.I785V	Chr.9: 35737900-35737900 on Build GRCh38
1739525	c.2200C>T	p.R734C	Chr.9: 35738150-35738150 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs748939597	Chr.9: 35737920-35737920 on Build GRCh38
rs773822816	Chr.9: 35737689-35737691 on Build GRCh38
rs770645171	Chr.9: 35738041-35738041 on Build GRCh38
rs762088879	Chr.9: 35737979-35737979 on Build GRCh38
rs750727245	Chr.9: 35737998-35737998 on Build GRCh38
rs143345363	Chr.9: 35737886-35737886 on Build GRCh38
rs755079907	Chr.9: 35737718-35737718 on Build GRCh38
rs760546007	Chr.9: 35737973-35737976 on Build GRCh38
rs757586951	Chr.9: 35737769-35737769 on Build GRCh38
rs374440648	Chr.9: 35737775-35737775 on Build GRCh38
rs200851781	Chr.9: 35738018-35738019 on Build GRCh38
rs947546049	Chr.9: 35738125-35738125 on Build GRCh38
rs769425692	Chr.9: 35737814-35737814 on Build GRCh38
rs375817378	Chr.9: 35738010-35738010 on Build GRCh38
rs201520272	Chr.9: 35738122-35738122 on Build GRCh38
rs774411642	Chr.9: 35737840-35737840 on Build GRCh38
rs751575696	Chr.9: 35737717-35737717 on Build GRCh38
rs148461769	Chr.9: 35738043-35738043 on Build GRCh38
rs62637647	Chr.9: 35738110-35738110 on Build GRCh38
rs746694187	Chr.9: 35737975-35737975 on Build GRCh38
rs778985234	Chr.9: 35737828-35737828 on Build GRCh38
rs898668285	Chr.9: 35737870-35737870 on Build GRCh38
rs766699931	Chr.9: 35738121-35738121 on Build GRCh38
rs546011240	Chr.9: 35737865-35737865 on Build GRCh38
rs757588425	Chr.9: 35737899-35737899 on Build GRCh38
rs747616868	Chr.9: 35737799-35737799 on Build GRCh38
rs768775425	Chr.9: 35738077-35738077 on Build GRCh38
rs200894732	Chr.9: 35738130-35738130 on Build GRCh38
rs781057774	Chr.9: 35738019-35738021 on Build GRCh38
rs78562202	Chr.9: 35738033-35738033 on Build GRCh38
rs570984524	Chr.9: 35738024-35738024 on Build GRCh38
rs73438752	Chr.9: 35737710-35737710 on Build GRCh38
rs753906293	Chr.9: 35737686-35737686 on Build GRCh38
rs772758704	Chr.9: 35737822-35737822 on Build GRCh38
rs755506697	Chr.9: 35738127-35738127 on Build GRCh38
rs199765267	Chr.9: 35737900-35737900 on Build GRCh38
rs772886623	Chr.9: 35737918-35737918 on Build GRCh38
rs746421010	Chr.9: 35737774-35737774 on Build GRCh38
rs772670813	Chr.9: 35737957-35737963 on Build GRCh38
rs547965402	Chr.9: 35737955-35737955 on Build GRCh38
rs916407293	Chr.9: 35738054-35738054 on Build GRCh38
rs958126086	Chr.9: 35738022-35738022 on Build GRCh38
rs752958819	Chr.9: 35737735-35737735 on Build GRCh38
rs766035120	Chr.9: 35738007-35738008 on Build GRCh38
rs940141611	Chr.9: 35737787-35737787 on Build GRCh38
rs371965145	Chr.9: 35737961-35737961 on Build GRCh38
rs748969125	Chr.9: 35738036-35738036 on Build GRCh38
rs763842418	Chr.9: 35738021-35738022 on Build GRCh38
rs763269505	Chr.9: 35738113-35738113 on Build GRCh38
rs756161551	Chr.9: 35737884-35737884 on Build GRCh38
rs972531833	Chr.9: 35737939-35737939 on Build GRCh38
rs771767001	Chr.9: 35737867-35737868 on Build GRCh38
rs772024917	Chr.9: 35738047-35738047 on Build GRCh38
rs113327265	Chr.9: 35737742-35737742 on Build GRCh38
rs529175802	Chr.9: 35737805-35737805 on Build GRCh38
rs775468187	Chr.9: 35738050-35738050 on Build GRCh38
rs746367894	Chr.9: 35737902-35737902 on Build GRCh38
rs368660186	Chr.9: 35737984-35737984 on Build GRCh38
rs758834761	Chr.9: 35737907-35737907 on Build GRCh38
rs764122231	Chr.9: 35737971-35737971 on Build GRCh38
rs752759752	Chr.9: 35737882-35737882 on Build GRCh38
rs562375787	Chr.9: 35737914-35737914 on Build GRCh38
rs760579817	Chr.9: 35738057-35738057 on Build GRCh38
rs776241385	Chr.9: 35737692-35737692 on Build GRCh38
rs202031683	Chr.9: 35738111-35738111 on Build GRCh38
rs1026317768	Chr.9: 35737956-35737956 on Build GRCh38
rs777387371	Chr.9: 35737922-35737922 on Build GRCh38
rs201258683	Chr.9: 35737719-35737719 on Build GRCh38
rs780552477	Chr.9: 35737911-35737911 on Build GRCh38
rs144531146	Chr.9: 35737915-35737915 on Build GRCh38
rs777863053	Chr.9: 35737754-35737754 on Build GRCh38
rs372001753	Chr.9: 35738021-35738021 on Build GRCh38
rs776190100	Chr.9: 35737776-35737776 on Build GRCh38
rs756428994	Chr.9: 35737745-35737745 on Build GRCh38
rs766315448	Chr.9: 35737836-35737836 on Build GRCh38
rs370957405	Chr.9: 35738000-35738000 on Build GRCh38
rs779354356	Chr.9: 35737773-35737773 on Build GRCh38
rs770839470	Chr.9: 35737942-35737942 on Build GRCh38
rs749610229	Chr.9: 35737763-35737763 on Build GRCh38
rs775313194	Chr.9: 35737960-35737960 on Build GRCh38
rs568813842	Chr.9: 35738091-35738091 on Build GRCh38
rs747824980	Chr.9: 35737735-35737736 on Build GRCh38
rs776507361	Chr.9: 35738094-35738094 on Build GRCh38
rs759515533	Chr.9: 35738070-35738071 on Build GRCh38
rs765448520	Chr.9: 35737986-35737986 on Build GRCh38
rs766366640	Chr.9: 35737716-35737716 on Build GRCh38
rs745609492	Chr.9: 35738046-35738046 on Build GRCh38
rs767703677	Chr.9: 35737880-35737880 on Build GRCh38
rs754039859	Chr.9: 35737891-35737891 on Build GRCh38
rs772992019	Chr.9: 35737715-35737715 on Build GRCh38
rs1008414642	Chr.9: 35737923-35737923 on Build GRCh38
rs774358705	Chr.9: 35737947-35737947 on Build GRCh38
rs200544152	Chr.9: 35737885-35737885 on Build GRCh38
rs928671211	Chr.9: 35738048-35738050 on Build GRCh38
rs938749085	Chr.9: 35738080-35738080 on Build GRCh38

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