Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 155240162-155240706 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
6669662 c.109G>A p.A37T Chr.1: 155240636-155240636 on Build GRCh38
896827 c.88C>A p.L30I Chr.1: 155240657-155240657 on Build GRCh38
6121482 c.90A>T p.L30L Chr.1: 155240655-155240655 on Build GRCh38
6121481 c.75C>G p.L25L Chr.1: 155240670-155240670 on Build GRCh38
1747794 c.45G>C p.L15F Chr.1: 155240700-155240700 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs546949267 Chr.1: 155240321-155240321 on Build GRCh38
rs777383151 Chr.1: 155240637-155240637 on Build GRCh38
rs763323321 Chr.1: 155240600-155240600 on Build GRCh38
rs541342886 Chr.1: 155240554-155240554 on Build GRCh38
rs1059731 Chr.1: 155240664-155240664 on Build GRCh38
rs1028070045 Chr.1: 155240429-155240429 on Build GRCh38
rs1041670981 Chr.1: 155240248-155240248 on Build GRCh38
rs903292670 Chr.1: 155240256-155240256 on Build GRCh38
rs771771655 Chr.1: 155240276-155240276 on Build GRCh38
rs573523478 Chr.1: 155240483-155240483 on Build GRCh38
rs748587897 Chr.1: 155240229-155240229 on Build GRCh38
rs907441251 Chr.1: 155240369-155240369 on Build GRCh38
rs912491062 Chr.1: 155240465-155240465 on Build GRCh38
rs377526831 Chr.1: 155240588-155240588 on Build GRCh38
rs776856496 Chr.1: 155240647-155240647 on Build GRCh38
rs1054989688 Chr.1: 155240525-155240525 on Build GRCh38
rs201330214 Chr.1: 155240663-155240663 on Build GRCh38
rs945269864 Chr.1: 155240466-155240466 on Build GRCh38
rs779522491 Chr.1: 155240215-155240215 on Build GRCh38
rs772779630 Chr.1: 155240292-155240292 on Build GRCh38
rs1013084985 Chr.1: 155240291-155240291 on Build GRCh38
rs146532106 Chr.1: 155240394-155240394 on Build GRCh38
rs142348200 Chr.1: 155240336-155240336 on Build GRCh38
rs867447625 Chr.1: 155240245-155240245 on Build GRCh38
rs766943717 Chr.1: 155240610-155240610 on Build GRCh38
rs748322959 Chr.1: 155240658-155240658 on Build GRCh38
rs745860677 Chr.1: 155240644-155240644 on Build GRCh38
rs912461257 Chr.1: 155240202-155240202 on Build GRCh38
rs557469991 Chr.1: 155240371-155240371 on Build GRCh38
rs752104007 Chr.1: 155240615-155240615 on Build GRCh38
rs954035160 Chr.1: 155240439-155240439 on Build GRCh38
rs755265447 Chr.1: 155240184-155240184 on Build GRCh38
rs1000200049 Chr.1: 155240258-155240258 on Build GRCh38
rs755800314 Chr.1: 155240634-155240634 on Build GRCh38
rs104886460 Chr.1: 155240629-155240629 on Build GRCh38
rs936010622 Chr.1: 155240519-155240519 on Build GRCh38
rs894671364 Chr.1: 155240283-155240283 on Build GRCh38
rs894543050 Chr.1: 155240544-155240544 on Build GRCh38
rs767077683 Chr.1: 155240619-155240619 on Build GRCh38
rs397518433 Chr.1: 155240673-155240673 on Build GRCh38
rs1003895526 Chr.1: 155240378-155240378 on Build GRCh38
rs768854161 Chr.1: 155240645-155240645 on Build GRCh38
rs559366562 Chr.1: 155240575-155240575 on Build GRCh38
rs986636304 Chr.1: 155240455-155240456 on Build GRCh38
rs182016990 Chr.1: 155240471-155240471 on Build GRCh38
rs757041827 Chr.1: 155240641-155240641 on Build GRCh38
rs962460364 Chr.1: 155240379-155240379 on Build GRCh38
rs139190127 Chr.1: 155240461-155240461 on Build GRCh38
rs80356760 Chr.1: 155240651-155240652 on Build GRCh38
rs372948636 Chr.1: 155240186-155240186 on Build GRCh38
rs369199473 Chr.1: 155240596-155240596 on Build GRCh38
rs549359970 Chr.1: 155240188-155240188 on Build GRCh38
rs948929646 Chr.1: 155240558-155240558 on Build GRCh38
rs571534886 Chr.1: 155240324-155240324 on Build GRCh38
rs759337640 Chr.1: 155240388-155240388 on Build GRCh38
rs924582879 Chr.1: 155240477-155240477 on Build GRCh38
rs387906315 Chr.1: 155240660-155240661 on Build GRCh38
rs148001886 Chr.1: 155240640-155240640 on Build GRCh38
rs151028758 Chr.1: 155240239-155240239 on Build GRCh38
rs567511270 Chr.1: 155240196-155240196 on Build GRCh38

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