Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 155237164-155237425 on Build GRCh38
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
5560932 c.926A>G p.N309S Chr.1: 155237414-155237414 on Build GRCh38
1334592 c.971G>A p.R324H Chr.1: 155237369-155237369 on Build GRCh38
2210236 c.946C>T p.R316C Chr.1: 155237394-155237394 on Build GRCh38
4022964 c.939C>T p.H313H Chr.1: 155237401-155237401 on Build GRCh38
5446914 c.923C>A p.A308D Chr.1: 155237417-155237417 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs72704130 Chr.1: 155237239-155237239 on Build GRCh38
rs1002676919 Chr.1: 155237254-155237254 on Build GRCh38
rs762819647 Chr.1: 155237307-155237307 on Build GRCh38
rs1026590373 Chr.1: 155237335-155237335 on Build GRCh38
rs749925127 Chr.1: 155237259-155237259 on Build GRCh38
rs747591577 Chr.1: 155237402-155237402 on Build GRCh38
rs544673228 Chr.1: 155237185-155237185 on Build GRCh38
rs537631939 Chr.1: 155237256-155237256 on Build GRCh38
rs780457481 Chr.1: 155237401-155237401 on Build GRCh38
rs946743963 Chr.1: 155237222-155237222 on Build GRCh38
rs1043696149 Chr.1: 155237234-155237234 on Build GRCh38
rs398123535 Chr.1: 155237352-155237352 on Build GRCh38
rs79696831 Chr.1: 155237369-155237369 on Build GRCh38
rs766249489 Chr.1: 155237321-155237321 on Build GRCh38
rs750834903 Chr.1: 155237386-155237386 on Build GRCh38
rs775596648 Chr.1: 155237322-155237322 on Build GRCh38
rs189774125 Chr.1: 155237271-155237271 on Build GRCh38
rs142662866 Chr.1: 155237353-155237353 on Build GRCh38
rs570337924 Chr.1: 155237249-155237249 on Build GRCh38
rs575127557 Chr.1: 155237389-155237389 on Build GRCh38
rs556277010 Chr.1: 155237265-155237265 on Build GRCh38
rs760636654 Chr.1: 155237327-155237327 on Build GRCh38
rs765633380 Chr.1: 155237370-155237370 on Build GRCh38
rs535896234 Chr.1: 155237399-155237399 on Build GRCh38
rs753890133 Chr.1: 155237365-155237365 on Build GRCh38
rs764281170 Chr.1: 155237334-155237334 on Build GRCh38
rs533856111 Chr.1: 155237203-155237203 on Build GRCh38
rs370125418 Chr.1: 155237226-155237226 on Build GRCh38
rs121908298 Chr.1: 155237357-155237357 on Build GRCh38
rs545478869 Chr.1: 155237281-155237281 on Build GRCh38

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