Product Details

Primer Sequences
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Primer Chromosome Location
Chr.6: 145635068-145635335 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 XM_017011301.1 XM_017011302.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4948811 c.392C>A p.P131H Chr.6: 145635330-145635330 on Build GRCh38
1329280 c.688T>G p.W230G Chr.6: 145635275-145635275 on Build GRCh38
5404518 c.331C>T p.P111S Chr.6: 145635331-145635331 on Build GRCh38
5179238 c.718+10A>G p.? Chr.6: 145635235-145635235 on Build GRCh38
5404517 c.391C>T p.P131S Chr.6: 145635331-145635331 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs985367845 Chr.6: 145635131-145635131 on Build GRCh38
rs758599535 Chr.6: 145635306-145635306 on Build GRCh38
rs754150416 Chr.6: 145635199-145635199 on Build GRCh38
rs906096146 Chr.6: 145635257-145635257 on Build GRCh38
rs762189100 Chr.6: 145635297-145635297 on Build GRCh38
rs765363627 Chr.6: 145635197-145635197 on Build GRCh38
rs61758156 Chr.6: 145635282-145635282 on Build GRCh38
rs1021207407 Chr.6: 145635123-145635123 on Build GRCh38
rs372882978 Chr.6: 145635190-145635193 on Build GRCh38
rs929333643 Chr.6: 145635213-145635213 on Build GRCh38
rs747896356 Chr.6: 145635230-145635230 on Build GRCh38
rs1054197868 Chr.6: 145635125-145635125 on Build GRCh38
rs370750611 Chr.6: 145635226-145635226 on Build GRCh38
rs549358066 Chr.6: 145635157-145635157 on Build GRCh38
rs897995712 Chr.6: 145635209-145635209 on Build GRCh38
rs746044424 Chr.6: 145635214-145635214 on Build GRCh38
rs568681236 Chr.6: 145635163-145635163 on Build GRCh38
rs1003076660 Chr.6: 145635265-145635265 on Build GRCh38
rs965267699 Chr.6: 145635167-145635167 on Build GRCh38
rs764579586 Chr.6: 145635197-145635197 on Build GRCh38
rs765549313 Chr.6: 145635299-145635299 on Build GRCh38
rs891550045 Chr.6: 145635280-145635280 on Build GRCh38
rs751082267 Chr.6: 145635132-145635135 on Build GRCh38
rs969049701 Chr.6: 145635128-145635128 on Build GRCh38
rs1003807601 Chr.6: 145635187-145635187 on Build GRCh38
rs750688207 Chr.6: 145635300-145635300 on Build GRCh38
rs200066315 Chr.6: 145635180-145635183 on Build GRCh38
rs71552935 Chr.6: 145635245-145635245 on Build GRCh38
rs549632635 Chr.6: 145635261-145635261 on Build GRCh38
rs1057227164 Chr.6: 145635267-145635267 on Build GRCh38
rs769651661 Chr.6: 145635247-145635247 on Build GRCh38
rs766024531 Chr.6: 145635260-145635260 on Build GRCh38
rs754313309 Chr.6: 145635287-145635287 on Build GRCh38
rs762653955 Chr.6: 145635249-145635249 on Build GRCh38
rs778240670 Chr.6: 145635314-145635314 on Build GRCh38
rs1006950710 Chr.6: 145635303-145635303 on Build GRCh38
rs780079405 Chr.6: 145635220-145635220 on Build GRCh38
rs527717668 Chr.6: 145635115-145635115 on Build GRCh38
rs147399860 Chr.6: 145635283-145635283 on Build GRCh38
rs377578727 Chr.6: 145635200-145635200 on Build GRCh38
rs754482384 Chr.6: 145635112-145635112 on Build GRCh38
rs373652439 Chr.6: 145635248-145635248 on Build GRCh38
rs779122634 Chr.6: 145635212-145635212 on Build GRCh38
rs758508613 Chr.6: 145635219-145635219 on Build GRCh38
rs747019770 Chr.6: 145635223-145635223 on Build GRCh38
rs183878160 Chr.6: 145635183-145635183 on Build GRCh38
rs747850839 Chr.6: 145635174-145635174 on Build GRCh38

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