Product Details

Primer Sequences

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Primer Chromosome Location

Chr.4: 22735743-22736270 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

GBA3

Entrez Gene ID

57733

Gene Name

glucosylceramidase beta 3 (gene/pseudogene)

Gene Aliases

CBG, CBGL1, GLUC, KLRP

UniGene

Hs.653107

Gene Chromosome Location

Chr.4: 22692914-22819575 on Build GRCh38

Transcripts

NM_001128432.2 NM_001277225.1 NM_020973.4 NR_102355.1 NR_102356.1 NR_102357.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
5471874	c.224G>A	p.R75H	Chr.4: 22736146-22736146 on Build GRCh38
3602947	c.77G>A	p.G26E	Chr.4: 22735999-22735999 on Build GRCh38
6054376	c.180G>T	p.E60D	Chr.4: 22736102-22736102 on Build GRCh38
4446083	c.230C>T	p.S77F	Chr.4: 22736152-22736152 on Build GRCh38
3602946	c.77G>A	p.G26E	Chr.4: 22735999-22735999 on Build GRCh38
128051	c.276C>T	p.I92I	Chr.4: 22736198-22736198 on Build GRCh38
5687060	c.190delA	p.K64fs*8	Chr.4: 22736112-22736112 on Build GRCh38
6167306	c.70G>A	p.A24T	Chr.4: 22735992-22735992 on Build GRCh38
5687061	c.190delA	p.K64fs*8	Chr.4: 22736112-22736112 on Build GRCh38
387419	c.67G>T	p.D23Y	Chr.4: 22735989-22735989 on Build GRCh38
5573126	c.226T>G	p.F76V	Chr.4: 22736148-22736148 on Build GRCh38
5650262	c.264G>A	p.T88T	Chr.4: 22736186-22736186 on Build GRCh38
6167308	c.70G>A	p.A24T	Chr.4: 22735992-22735992 on Build GRCh38
5471873	c.224G>A	p.R75H	Chr.4: 22736146-22736146 on Build GRCh38
5401018	c.96G>A	p.W32*	Chr.4: 22736018-22736018 on Build GRCh38
4124125	c.150T>C	p.D50D	Chr.4: 22736072-22736072 on Build GRCh38
3602948	c.77G>A	p.G26E	Chr.4: 22735999-22735999 on Build GRCh38
4331710	c.72A>G	p.A24A	Chr.4: 22735994-22735994 on Build GRCh38
1054566	c.116G>A	p.G39E	Chr.4: 22736038-22736038 on Build GRCh38
5466132	c.126A>G	p.R42R	Chr.4: 22736048-22736048 on Build GRCh38
5687062	c.190delA	p.K64fs*8	Chr.4: 22736112-22736112 on Build GRCh38
6586882	c.201A>T	p.K67N	Chr.4: 22736123-22736123 on Build GRCh38
4331711	c.72A>G	p.A24A	Chr.4: 22735994-22735994 on Build GRCh38
4124124	c.150T>C	p.D50D	Chr.4: 22736072-22736072 on Build GRCh38
6586883	c.201A>T	p.K67N	Chr.4: 22736123-22736123 on Build GRCh38
6167307	c.70G>A	p.A24T	Chr.4: 22735992-22735992 on Build GRCh38
3602949	c.237C>T	p.S79S	Chr.4: 22736159-22736159 on Build GRCh38
5668846	c.282G>T	p.Q94H	Chr.4: 22736204-22736204 on Build GRCh38
4124123	c.150T>C	p.D50D	Chr.4: 22736072-22736072 on Build GRCh38
5466134	c.126A>G	p.R42R	Chr.4: 22736048-22736048 on Build GRCh38
5650263	c.264G>A	p.T88T	Chr.4: 22736186-22736186 on Build GRCh38
3993619	c.97G>T	p.D33Y	Chr.4: 22736019-22736019 on Build GRCh38
6100177	c.263C>A	p.T88K	Chr.4: 22736185-22736185 on Build GRCh38
224254	c.121G>A	p.E41K	Chr.4: 22736043-22736043 on Build GRCh38
5668845	c.282G>T	p.Q94H	Chr.4: 22736204-22736204 on Build GRCh38
3602950	c.237C>T	p.S79S	Chr.4: 22736159-22736159 on Build GRCh38
6054374	c.180G>T	p.E60D	Chr.4: 22736102-22736102 on Build GRCh38
4978335	c.116G>A	p.G39E	Chr.4: 22736038-22736038 on Build GRCh38
5573128	c.226T>G	p.F76V	Chr.4: 22736148-22736148 on Build GRCh38
6100175	c.263C>A	p.T88K	Chr.4: 22736185-22736185 on Build GRCh38
5573127	c.226T>G	p.F76V	Chr.4: 22736148-22736148 on Build GRCh38
325391	c.233T>C	p.L78P	Chr.4: 22736155-22736155 on Build GRCh38
5466133	c.126A>G	p.R42R	Chr.4: 22736048-22736048 on Build GRCh38
5650264	c.264G>A	p.T88T	Chr.4: 22736186-22736186 on Build GRCh38
1054565	c.88T>C	p.C30R	Chr.4: 22736010-22736010 on Build GRCh38
6586884	c.201A>T	p.K67N	Chr.4: 22736123-22736123 on Build GRCh38
4446081	c.230C>T	p.S77F	Chr.4: 22736152-22736152 on Build GRCh38
3602951	c.237C>T	p.S79S	Chr.4: 22736159-22736159 on Build GRCh38
3993621	c.97G>T	p.D33Y	Chr.4: 22736019-22736019 on Build GRCh38
5668847	c.282G>T	p.Q94H	Chr.4: 22736204-22736204 on Build GRCh38
5471872	c.224G>A	p.R75H	Chr.4: 22736146-22736146 on Build GRCh38
4446082	c.230C>T	p.S77F	Chr.4: 22736152-22736152 on Build GRCh38
6100176	c.263C>A	p.T88K	Chr.4: 22736185-22736185 on Build GRCh38
4978334	c.116G>A	p.G39E	Chr.4: 22736038-22736038 on Build GRCh38
6054375	c.180G>T	p.E60D	Chr.4: 22736102-22736102 on Build GRCh38
4331709	c.72A>G	p.A24A	Chr.4: 22735994-22735994 on Build GRCh38
5401017	c.96G>A	p.W32*	Chr.4: 22736018-22736018 on Build GRCh38
5401019	c.96G>A	p.W32*	Chr.4: 22736018-22736018 on Build GRCh38
3993620	c.97G>T	p.D33Y	Chr.4: 22736019-22736019 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs984195248	Chr.4: 22735804-22735804 on Build GRCh38
rs773332525	Chr.4: 22736114-22736114 on Build GRCh38
rs77900119	Chr.4: 22735826-22735826 on Build GRCh38
rs761352071	Chr.4: 22736015-22736015 on Build GRCh38
rs759397504	Chr.4: 22736233-22736233 on Build GRCh38
rs113740191	Chr.4: 22735854-22735854 on Build GRCh38
rs747002355	Chr.4: 22736192-22736192 on Build GRCh38
rs750350152	Chr.4: 22736022-22736022 on Build GRCh38
rs886694506	Chr.4: 22735832-22735832 on Build GRCh38
rs754733226	Chr.4: 22735974-22735974 on Build GRCh38
rs781668553	Chr.4: 22736126-22736126 on Build GRCh38
rs1033858812	Chr.4: 22735799-22735799 on Build GRCh38
rs747487923	Chr.4: 22736078-22736078 on Build GRCh38
rs868709721	Chr.4: 22736050-22736050 on Build GRCh38
rs201138960	Chr.4: 22736145-22736145 on Build GRCh38
rs961445223	Chr.4: 22736106-22736106 on Build GRCh38
rs762632155	Chr.4: 22735999-22735999 on Build GRCh38
rs544339352	Chr.4: 22736080-22736080 on Build GRCh38
rs7688408	Chr.4: 22735803-22735803 on Build GRCh38
rs746652732	Chr.4: 22735916-22735916 on Build GRCh38
rs754048075	Chr.4: 22736031-22736031 on Build GRCh38
rs974369967	Chr.4: 22735812-22735812 on Build GRCh38
rs557206784	Chr.4: 22735825-22735825 on Build GRCh38
rs987428778	Chr.4: 22736140-22736140 on Build GRCh38
rs764123065	Chr.4: 22736159-22736159 on Build GRCh38
rs750260393	Chr.4: 22735936-22735936 on Build GRCh38
rs72130208	Chr.4: 22735851-22735852 on Build GRCh38
rs369914396	Chr.4: 22735978-22735978 on Build GRCh38
rs867652087	Chr.4: 22735809-22735809 on Build GRCh38
rs916788334	Chr.4: 22736207-22736207 on Build GRCh38
rs747405317	Chr.4: 22735980-22735980 on Build GRCh38
rs1017035222	Chr.4: 22736100-22736100 on Build GRCh38
rs746343429	Chr.4: 22736173-22736174 on Build GRCh38
rs377691778	Chr.4: 22735964-22735964 on Build GRCh38
rs376552395	Chr.4: 22735853-22735855 on Build GRCh38
rs893572971	Chr.4: 22735914-22735914 on Build GRCh38
rs78166175	Chr.4: 22735823-22735823 on Build GRCh38
rs779712309	Chr.4: 22735882-22735882 on Build GRCh38
rs781490954	Chr.4: 22736168-22736168 on Build GRCh38
rs373432928	Chr.4: 22736069-22736069 on Build GRCh38
rs529839966	Chr.4: 22736185-22736185 on Build GRCh38
rs370588320	Chr.4: 22736133-22736133 on Build GRCh38
rs73801182	Chr.4: 22735770-22735770 on Build GRCh38
rs759184981	Chr.4: 22736135-22736135 on Build GRCh38
rs369674650	Chr.4: 22735949-22735949 on Build GRCh38
rs757863507	Chr.4: 22735879-22735879 on Build GRCh38
rs770916647	Chr.4: 22736204-22736204 on Build GRCh38
rs915036728	Chr.4: 22736205-22736205 on Build GRCh38
rs764144043	Chr.4: 22736092-22736092 on Build GRCh38
rs765526849	Chr.4: 22736141-22736141 on Build GRCh38
rs755910063	Chr.4: 22735939-22735939 on Build GRCh38
rs766174909	Chr.4: 22736030-22736030 on Build GRCh38
rs1053561707	Chr.4: 22735900-22735900 on Build GRCh38
rs767480722	Chr.4: 22735934-22735934 on Build GRCh38
rs755225301	Chr.4: 22736060-22736060 on Build GRCh38
rs766155658	Chr.4: 22736132-22736132 on Build GRCh38
rs780459054	Chr.4: 22735951-22735951 on Build GRCh38
rs772845187	Chr.4: 22736191-22736191 on Build GRCh38
rs543250101	Chr.4: 22735764-22735764 on Build GRCh38
rs748949559	Chr.4: 22736089-22736089 on Build GRCh38
rs776391787	Chr.4: 22736227-22736227 on Build GRCh38
rs771748925	Chr.4: 22736190-22736190 on Build GRCh38
rs201187423	Chr.4: 22735862-22735862 on Build GRCh38
rs532386957	Chr.4: 22735911-22735911 on Build GRCh38
rs1029699178	Chr.4: 22736125-22736125 on Build GRCh38
rs1042076536	Chr.4: 22735921-22735921 on Build GRCh38
rs367674331	Chr.4: 22736095-22736095 on Build GRCh38
rs10007404	Chr.4: 22735862-22735862 on Build GRCh38
rs771236423	Chr.4: 22735991-22735991 on Build GRCh38
rs758521024	Chr.4: 22736146-22736146 on Build GRCh38
rs910424265	Chr.4: 22735880-22735880 on Build GRCh38
rs775049284	Chr.4: 22735998-22735998 on Build GRCh38
rs964412814	Chr.4: 22736077-22736077 on Build GRCh38
rs747696603	Chr.4: 22736094-22736094 on Build GRCh38
rs865814554	Chr.4: 22736124-22736124 on Build GRCh38
rs202201230	Chr.4: 22736184-22736184 on Build GRCh38
rs773895851	Chr.4: 22736008-22736008 on Build GRCh38
rs778274609	Chr.4: 22736072-22736072 on Build GRCh38
rs755062877	Chr.4: 22735959-22735959 on Build GRCh38
rs1003840177	Chr.4: 22736037-22736037 on Build GRCh38
rs752122778	Chr.4: 22736165-22736165 on Build GRCh38
rs752776815	Chr.4: 22736070-22736070 on Build GRCh38
rs768114012	Chr.4: 22736007-22736007 on Build GRCh38
rs987788084	Chr.4: 22735877-22735877 on Build GRCh38
rs750949225	Chr.4: 22736190-22736190 on Build GRCh38
rs767570401	Chr.4: 22736017-22736017 on Build GRCh38
rs747784699	Chr.4: 22736189-22736189 on Build GRCh38
rs760573009	Chr.4: 22736029-22736029 on Build GRCh38
rs781612582	Chr.4: 22736087-22736087 on Build GRCh38
rs746250725	Chr.4: 22736175-22736175 on Build GRCh38
rs865950874	Chr.4: 22735859-22735859 on Build GRCh38
rs72094820	Chr.4: 22735854-22735855 on Build GRCh38
rs933261393	Chr.4: 22735827-22735827 on Build GRCh38
rs370990153	Chr.4: 22736235-22736235 on Build GRCh38
rs377374628	Chr.4: 22736107-22736107 on Build GRCh38
rs187359066	Chr.4: 22736166-22736166 on Build GRCh38
rs779021493	Chr.4: 22735960-22735960 on Build GRCh38
rs1037885959	Chr.4: 22735856-22735856 on Build GRCh38
rs1034330569	Chr.4: 22736046-22736046 on Build GRCh38
rs760658989	Chr.4: 22736127-22736127 on Build GRCh38
rs373458485	Chr.4: 22735955-22735955 on Build GRCh38

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