Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 155236264-155236499 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
1238967 c.1100A>G p.H367R Chr.1: 155236369-155236369 on Build GRCh38
3474894 c.1072C>T p.P358S Chr.1: 155236397-155236397 on Build GRCh38
4458143 c.1073C>T p.P358L Chr.1: 155236396-155236396 on Build GRCh38
1207959 c.1192C>T p.R398* Chr.1: 155236277-155236277 on Build GRCh38
6121483 c.1205A>G p.Y402C Chr.1: 155236264-155236264 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1064647 Chr.1: 155236431-155236431 on Build GRCh38
rs2230288 Chr.1: 155236376-155236376 on Build GRCh38
rs121908305 Chr.1: 155236379-155236379 on Build GRCh38
rs794727963 Chr.1: 155236439-155236439 on Build GRCh38
rs748563507 Chr.1: 155236474-155236474 on Build GRCh38
rs121908306 Chr.1: 155236328-155236328 on Build GRCh38
rs765182863 Chr.1: 155236310-155236310 on Build GRCh38
rs121908304 Chr.1: 155236416-155236416 on Build GRCh38
rs78198234 Chr.1: 155236420-155236420 on Build GRCh38
rs540967271 Chr.1: 155236411-155236411 on Build GRCh38
rs1064648 Chr.1: 155236366-155236366 on Build GRCh38
rs753583304 Chr.1: 155236296-155236296 on Build GRCh38
rs75391747 Chr.1: 155236305-155236305 on Build GRCh38
rs760310921 Chr.1: 155236383-155236383 on Build GRCh38
rs761628930 Chr.1: 155236393-155236393 on Build GRCh38
rs143222798 Chr.1: 155236377-155236377 on Build GRCh38
rs77321207 Chr.1: 155236441-155236441 on Build GRCh38
rs751598832 Chr.1: 155236313-155236313 on Build GRCh38
rs80317710 Chr.1: 155236374-155236374 on Build GRCh38
rs878853315 Chr.1: 155236292-155236292 on Build GRCh38
rs11558184 Chr.1: 155236294-155236294 on Build GRCh38
rs1064646 Chr.1: 155236443-155236443 on Build GRCh38
rs757670475 Chr.1: 155236477-155236477 on Build GRCh38
rs79311125 Chr.1: 155236413-155236413 on Build GRCh38
rs781306264 Chr.1: 155236331-155236331 on Build GRCh38
rs398123527 Chr.1: 155236298-155236298 on Build GRCh38
rs761681845 Chr.1: 155236302-155236302 on Build GRCh38
rs121908308 Chr.1: 155236295-155236295 on Build GRCh38
rs78396650 Chr.1: 155236426-155236426 on Build GRCh38
rs754148803 Chr.1: 155236470-155236470 on Build GRCh38
rs374463271 Chr.1: 155236457-155236457 on Build GRCh38
rs752959907 Chr.1: 155236338-155236338 on Build GRCh38
rs781356917 Chr.1: 155236314-155236315 on Build GRCh38
rs760307559 Chr.1: 155236285-155236285 on Build GRCh38
rs756292503 Chr.1: 155236339-155236339 on Build GRCh38
rs77714449 Chr.1: 155236444-155236444 on Build GRCh38
rs80356765 Chr.1: 155236340-155236340 on Build GRCh38
rs756307975 Chr.1: 155236464-155236464 on Build GRCh38
rs371083513 Chr.1: 155236424-155236424 on Build GRCh38
rs762944845 Chr.1: 155236419-155236419 on Build GRCh38
rs764251205 Chr.1: 155236469-155236469 on Build GRCh38
rs78188205 Chr.1: 155236399-155236399 on Build GRCh38
rs76539814 Chr.1: 155236384-155236384 on Build GRCh38
rs374306700 Chr.1: 155236367-155236367 on Build GRCh38
rs778140625 Chr.1: 155236353-155236353 on Build GRCh38
rs755021234 Chr.1: 155236326-155236326 on Build GRCh38
rs398123526 Chr.1: 155236409-155236409 on Build GRCh38
rs530006262 Chr.1: 155236404-155236404 on Build GRCh38
rs771522209 Chr.1: 155236365-155236365 on Build GRCh38
rs868591897 Chr.1: 155236318-155236318 on Build GRCh38
rs749633975 Chr.1: 155236356-155236356 on Build GRCh38
rs181720335 Chr.1: 155236436-155236436 on Build GRCh38

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