Product Details

Primer Sequences
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Primer Chromosome Location
Chr.3: 81498833-81499328 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
GBE1
Entrez Gene ID
2632
Gene Name
glucan (1,4-alpha-), branching enzyme 1
Gene Aliases
APBD, GBE, GSD4
UniGene
Hs.436062
Gene Chromosome Location
Chr.3: 81489699-81761799 on Build GRCh38
Transcripts
NM_000158.3

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1048715 c.2031T>C p.N677N Chr.3: 81499131-81499131 on Build GRCh38
1425533 c.2011delT p.S671fs*>32 Chr.3: 81499151-81499151 on Build GRCh38
4771656 c.2036G>A p.R679H Chr.3: 81499126-81499126 on Build GRCh38
6511253 c.1997G>T p.S666I Chr.3: 81499165-81499165 on Build GRCh38
6511251 c.2036G>T p.R679L Chr.3: 81499126-81499126 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs757815784 Chr.3: 81499158-81499158 on Build GRCh38
rs748162496 Chr.3: 81499259-81499259 on Build GRCh38
rs558714029 Chr.3: 81498926-81498926 on Build GRCh38
rs756859313 Chr.3: 81499205-81499205 on Build GRCh38
rs768079971 Chr.3: 81499220-81499220 on Build GRCh38
rs774558244 Chr.3: 81499065-81499065 on Build GRCh38
rs200093347 Chr.3: 81498860-81498861 on Build GRCh38
rs570003171 Chr.3: 81499286-81499286 on Build GRCh38
rs529898783 Chr.3: 81499035-81499035 on Build GRCh38
rs760578073 Chr.3: 81499066-81499066 on Build GRCh38
rs1003374437 Chr.3: 81498921-81498921 on Build GRCh38
rs201515305 Chr.3: 81499167-81499167 on Build GRCh38
rs567671422 Chr.3: 81499285-81499285 on Build GRCh38
rs576725193 Chr.3: 81498907-81498907 on Build GRCh38
rs986980971 Chr.3: 81499011-81499011 on Build GRCh38
rs549783802 Chr.3: 81499256-81499256 on Build GRCh38
rs193074572 Chr.3: 81499145-81499145 on Build GRCh38
rs372317131 Chr.3: 81499082-81499082 on Build GRCh38
rs1004144651 Chr.3: 81499275-81499275 on Build GRCh38
rs34988523 Chr.3: 81499058-81499059 on Build GRCh38
rs1039404894 Chr.3: 81498978-81498978 on Build GRCh38
rs560947015 Chr.3: 81499009-81499009 on Build GRCh38
rs368784983 Chr.3: 81499172-81499172 on Build GRCh38
rs774275405 Chr.3: 81499173-81499173 on Build GRCh38
rs772606981 Chr.3: 81499100-81499103 on Build GRCh38
rs1028059609 Chr.3: 81498994-81498994 on Build GRCh38
rs759264012 Chr.3: 81499184-81499184 on Build GRCh38
rs913464042 Chr.3: 81498912-81498912 on Build GRCh38
rs938729667 Chr.3: 81499210-81499210 on Build GRCh38
rs750953059 Chr.3: 81499222-81499222 on Build GRCh38
rs900929281 Chr.3: 81499224-81499224 on Build GRCh38
rs57067820 Chr.3: 81499060-81499061 on Build GRCh38
rs67415601 Chr.3: 81499059-81499060 on Build GRCh38
rs372608786 Chr.3: 81499183-81499183 on Build GRCh38
rs375246551 Chr.3: 81499013-81499013 on Build GRCh38
rs547429513 Chr.3: 81499252-81499252 on Build GRCh38
rs768906618 Chr.3: 81499257-81499259 on Build GRCh38
rs758188572 Chr.3: 81499126-81499126 on Build GRCh38
rs770819395 Chr.3: 81499180-81499180 on Build GRCh38
rs746169721 Chr.3: 81499166-81499166 on Build GRCh38
rs375596642 Chr.3: 81499108-81499108 on Build GRCh38
rs886903120 Chr.3: 81499279-81499279 on Build GRCh38
rs571448518 Chr.3: 81499146-81499146 on Build GRCh38
rs775419147 Chr.3: 81499192-81499192 on Build GRCh38
rs1028113479 Chr.3: 81499295-81499295 on Build GRCh38
rs772148199 Chr.3: 81499264-81499264 on Build GRCh38
rs887038691 Chr.3: 81498956-81498956 on Build GRCh38
rs780527478 Chr.3: 81499170-81499170 on Build GRCh38
rs1006514895 Chr.3: 81498969-81498969 on Build GRCh38
rs904161558 Chr.3: 81498968-81498968 on Build GRCh38
rs756753229 Chr.3: 81499227-81499227 on Build GRCh38
rs1042719118 Chr.3: 81498940-81498940 on Build GRCh38
rs963380843 Chr.3: 81498855-81498855 on Build GRCh38
rs765872649 Chr.3: 81498882-81498882 on Build GRCh38
rs951322749 Chr.3: 81499023-81499023 on Build GRCh38
rs927382604 Chr.3: 81498872-81498872 on Build GRCh38
rs779230899 Chr.3: 81499257-81499257 on Build GRCh38
rs764925200 Chr.3: 81499185-81499185 on Build GRCh38
rs545108342 Chr.3: 81498908-81498908 on Build GRCh38
rs369579486 Chr.3: 81499251-81499251 on Build GRCh38
rs202158511 Chr.3: 81499127-81499127 on Build GRCh38
rs780374709 Chr.3: 81499151-81499151 on Build GRCh38
rs543717842 Chr.3: 81499058-81499058 on Build GRCh38
rs773334252 Chr.3: 81499274-81499274 on Build GRCh38
rs377105672 Chr.3: 81499198-81499198 on Build GRCh38
rs990785448 Chr.3: 81499030-81499030 on Build GRCh38
rs747358946 Chr.3: 81499253-81499254 on Build GRCh38
rs370550007 Chr.3: 81499263-81499263 on Build GRCh38
rs762480067 Chr.3: 81499197-81499197 on Build GRCh38
rs948826382 Chr.3: 81498864-81498864 on Build GRCh38
rs1039372291 Chr.3: 81499221-81499221 on Build GRCh38
rs188470749 Chr.3: 81498989-81498989 on Build GRCh38
rs572065279 Chr.3: 81498929-81498929 on Build GRCh38
rs761908536 Chr.3: 81499174-81499174 on Build GRCh38
rs369831534 Chr.3: 81499120-81499120 on Build GRCh38
rs527789602 Chr.3: 81499202-81499202 on Build GRCh38
rs980145357 Chr.3: 81498862-81498862 on Build GRCh38
rs755109777 Chr.3: 81499237-81499237 on Build GRCh38
rs753585198 Chr.3: 81499090-81499090 on Build GRCh38
rs749713625 Chr.3: 81499233-81499233 on Build GRCh38
rs962341414 Chr.3: 81498986-81498986 on Build GRCh38

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