Product Details

Primer Sequences: Log in to view
Primer Chromosome Location: Chr.1: 155239571-155239824 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: GBA
Entrez Gene ID: 2629
Gene Name: glucosylceramidase beta
Gene Aliases: GBA1, GCB, GLUC
UniGene: Hs.282997
Gene Chromosome Location: Chr.1: 155234448-155244862 on Build GRCh38
Transcripts: NM_000157.3 NM_001005741.2 NM_001005742.2 NM_001171811.1 NM_001171812.1

Cosmic Detail

Cosmic ID	Mutation	AA	Transcript Location
414006	c.415G>T	p.A139S	Chr.1: 155239655-155239655 on Build GRCh38
5531620	c.369C>T	p.A123A	Chr.1: 155239701-155239701 on Build GRCh38
4022967	c.434A>G	p.K145R	Chr.1: 155239636-155239636 on Build GRCh38
5531619	c.368C>T	p.A123V	Chr.1: 155239702-155239702 on Build GRCh38
4022966	c.440A>G	p.Y147C	Chr.1: 155239630-155239630 on Build GRCh38
3360370	c.308G>C	p.G103A	Chr.1: 155239762-155239762 on Build GRCh38
5522743	c.342C>T	p.F114F	Chr.1: 155239728-155239728 on Build GRCh38
3721898	c.390C>T	p.L130L	Chr.1: 155239680-155239680 on Build GRCh38
4188494	c.367delG	p.A123fs*2	Chr.1: 155239703-155239703 on Build GRCh38
6459381	c.407C>G	p.S136*	Chr.1: 155239663-155239663 on Build GRCh38
252517	c.413C>T	p.P138L	Chr.1: 155239657-155239657 on Build GRCh38
123325	c.379G>A	p.A127T	Chr.1: 155239691-155239691 on Build GRCh38
3976192	c.312G>T	p.L104L	Chr.1: 155239758-155239758 on Build GRCh38
3976191	c.388C>G	p.L130V	Chr.1: 155239682-155239682 on Build GRCh38
5377831	c.437C>T	p.S146L	Chr.1: 155239633-155239633 on Build GRCh38
252999	c.413delC	p.P138fs*62	Chr.1: 155239657-155239657 on Build GRCh38

SNP Detail

SNP ID	Chromosome Location
rs878853314	Chr.1: 155239655-155239655 on Build GRCh38
rs121908312	Chr.1: 155239716-155239716 on Build GRCh38
rs368145008	Chr.1: 155239748-155239748 on Build GRCh38
rs756540913	Chr.1: 155239767-155239767 on Build GRCh38
rs749867889	Chr.1: 155239775-155239775 on Build GRCh38
rs79175920	Chr.1: 155239683-155239683 on Build GRCh38
rs758455177	Chr.1: 155239700-155239700 on Build GRCh38
rs878853316	Chr.1: 155239663-155239663 on Build GRCh38
rs753816998	Chr.1: 155239699-155239699 on Build GRCh38
rs767272691	Chr.1: 155239658-155239658 on Build GRCh38
rs794727708	Chr.1: 155239639-155239639 on Build GRCh38
rs758447515	Chr.1: 155239633-155239633 on Build GRCh38
rs916865472	Chr.1: 155239735-155239735 on Build GRCh38
rs372156961	Chr.1: 155239791-155239791 on Build GRCh38
rs781563451	Chr.1: 155239758-155239758 on Build GRCh38
rs770614424	Chr.1: 155239643-155239643 on Build GRCh38
rs752444566	Chr.1: 155239680-155239680 on Build GRCh38
rs767999479	Chr.1: 155239789-155239790 on Build GRCh38
rs377315750	Chr.1: 155239803-155239803 on Build GRCh38
rs779619231	Chr.1: 155239740-155239740 on Build GRCh38
rs770218957	Chr.1: 155239616-155239616 on Build GRCh38
rs759174705	Chr.1: 155239657-155239657 on Build GRCh38
rs770561256	Chr.1: 155239788-155239788 on Build GRCh38
rs1033293531	Chr.1: 155239609-155239609 on Build GRCh38
rs748485792	Chr.1: 155239762-155239762 on Build GRCh38
rs780169533	Chr.1: 155239746-155239746 on Build GRCh38
rs746684178	Chr.1: 155239778-155239778 on Build GRCh38
rs867024654	Chr.1: 155239709-155239709 on Build GRCh38
rs111857613	Chr.1: 155239773-155239773 on Build GRCh38
rs539166948	Chr.1: 155239615-155239615 on Build GRCh38
rs868211463	Chr.1: 155239705-155239705 on Build GRCh38
rs374003673	Chr.1: 155239648-155239648 on Build GRCh38
rs755161012	Chr.1: 155239752-155239752 on Build GRCh38
rs763972468	Chr.1: 155239687-155239687 on Build GRCh38
rs772806479	Chr.1: 155239623-155239623 on Build GRCh38

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