Product Details

Primer Sequences
Log in to view
Primer Chromosome Location
Chr.6: 145685989-145686262 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
EPM2A
Entrez Gene ID
7957
Gene Name
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Gene Aliases
EPM2, MELF
UniGene
Hs.486696
Gene Chromosome Location
Chr.6: 145500744-145736018 on Build GRCh38
Transcripts
NM_001018041.1 NM_005670.3 XM_006715564.3 XM_011536113.2 XM_011536116.1 XM_017011300.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4919268 c.142A>C p.N48H Chr.6: 145686155-145686155 on Build GRCh38
4919267 c.202A>C p.N68H Chr.6: 145686155-145686155 on Build GRCh38
3621281 c.372C>T p.L124L Chr.6: 145686226-145686226 on Build GRCh38
5618914 c.402G>A p.G134G Chr.6: 145686196-145686196 on Build GRCh38
345809 c.412G>T p.E138* Chr.6: 145686186-145686186 on Build GRCh38
View More

SNP Detail

SNP ID Chromosome Location
rs796052430 Chr.6: 145686152-145686152 on Build GRCh38
rs917788107 Chr.6: 145686202-145686202 on Build GRCh38
rs144204777 Chr.6: 145686171-145686171 on Build GRCh38
rs35230590 Chr.6: 145686196-145686196 on Build GRCh38
rs367954953 Chr.6: 145686074-145686074 on Build GRCh38
rs985955792 Chr.6: 145686097-145686097 on Build GRCh38
rs973775708 Chr.6: 145686172-145686172 on Build GRCh38
rs6902952 Chr.6: 145686087-145686087 on Build GRCh38
rs747680804 Chr.6: 145686043-145686043 on Build GRCh38
rs745559196 Chr.6: 145686174-145686174 on Build GRCh38
rs563919994 Chr.6: 145686208-145686208 on Build GRCh38
rs758060014 Chr.6: 145686178-145686178 on Build GRCh38
rs965931486 Chr.6: 145686157-145686157 on Build GRCh38
rs200940083 Chr.6: 145686198-145686198 on Build GRCh38
rs371724371 Chr.6: 145686082-145686082 on Build GRCh38
rs756197281 Chr.6: 145686115-145686115 on Build GRCh38
rs764141574 Chr.6: 145686131-145686131 on Build GRCh38
rs773728573 Chr.6: 145686201-145686201 on Build GRCh38
rs908300962 Chr.6: 145686153-145686153 on Build GRCh38
rs937631633 Chr.6: 145686194-145686194 on Build GRCh38
rs541811819 Chr.6: 145686096-145686096 on Build GRCh38
rs764403027 Chr.6: 145686020-145686020 on Build GRCh38
rs573054131 Chr.6: 145686065-145686065 on Build GRCh38
rs546283760 Chr.6: 145686235-145686235 on Build GRCh38
rs61758155 Chr.6: 145686205-145686205 on Build GRCh38
rs753781421 Chr.6: 145686149-145686149 on Build GRCh38
rs962446151 Chr.6: 145686163-145686163 on Build GRCh38
rs796052429 Chr.6: 145686219-145686219 on Build GRCh38
rs1000185342 Chr.6: 145686042-145686042 on Build GRCh38
rs533322512 Chr.6: 145686214-145686214 on Build GRCh38
rs746523076 Chr.6: 145686192-145686192 on Build GRCh38
rs1057518499 Chr.6: 145686163-145686163 on Build GRCh38
rs61757376 Chr.6: 145686188-145686188 on Build GRCh38
rs541522265 Chr.6: 145686016-145686016 on Build GRCh38
rs757035668 Chr.6: 145686156-145686156 on Build GRCh38
rs767542985 Chr.6: 145686091-145686091 on Build GRCh38
rs702322 Chr.6: 145686030-145686030 on Build GRCh38
rs150452237 Chr.6: 145686222-145686222 on Build GRCh38
rs1054138980 Chr.6: 145686204-145686204 on Build GRCh38
rs983317962 Chr.6: 145686143-145686143 on Build GRCh38
rs563610356 Chr.6: 145686099-145686099 on Build GRCh38

View Full Product Details