Product Details

Primer Sequences

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Primer Chromosome Location

Chr.6: 145635280-145635521 on Build GRCh38 View in UCSC browser

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

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Cosmic ID	Mutation	AA	Transcript Location
4681390	c.591T>C	p.D197D	Chr.6: 145635372-145635372 on Build GRCh38
5404518	c.331C>T	p.P111S	Chr.6: 145635331-145635331 on Build GRCh38
4762369	c.544C>T	p.H182Y	Chr.6: 145635419-145635419 on Build GRCh38
4948812	c.332C>A	p.P111H	Chr.6: 145635330-145635330 on Build GRCh38
7154171	c.348G>C	p.W116C	Chr.6: 145635374-145635374 on Build GRCh38
6360036	c.512G>T	p.R171L	Chr.6: 145635451-145635451 on Build GRCh38
4595388	c.502A>G	p.S168G	Chr.6: 145635461-145635461 on Build GRCh38
6325173	c.221A>G	p.E74G	Chr.6: 145635441-145635441 on Build GRCh38
7100419	c.576C>T	p.F192F	Chr.6: 145635387-145635387 on Build GRCh38
1661697	c.588G>A	p.W196*	Chr.6: 145635375-145635375 on Build GRCh38
7154172	c.288G>C	p.W96C	Chr.6: 145635374-145635374 on Build GRCh38
5034525	c.512G>A	p.R171H	Chr.6: 145635451-145635451 on Build GRCh38
7154170	c.589G>C	p.D197H	Chr.6: 145635374-145635374 on Build GRCh38
1621005	c.576C>A	p.F192L	Chr.6: 145635387-145635387 on Build GRCh38
5612247	c.228A>T	p.V76V	Chr.6: 145635434-145635434 on Build GRCh38
1440955	c.633C>A	p.P211P	Chr.6: 145635330-145635330 on Build GRCh38
5893112	c.253G>A	p.G85R	Chr.6: 145635409-145635409 on Build GRCh38
4948811	c.392C>A	p.P131H	Chr.6: 145635330-145635330 on Build GRCh38
5612245	c.529A>T	p.T177S	Chr.6: 145635434-145635434 on Build GRCh38
5404517	c.391C>T	p.P131S	Chr.6: 145635331-145635331 on Build GRCh38
304790	c.491T>G	p.I164S	Chr.6: 145635472-145635472 on Build GRCh38
3017462	c.598C>T	p.Q200*	Chr.6: 145635365-145635365 on Build GRCh38
5404516	c.632C>T	p.P211L	Chr.6: 145635331-145635331 on Build GRCh38
5546903	c.629_630delAG	p.E210fs*9	Chr.6: 145635333-145635334 on Build GRCh38
5893111	c.313G>A	p.G105R	Chr.6: 145635409-145635409 on Build GRCh38
3858821	c.483A>G	p.L161L	Chr.6: 145635480-145635480 on Build GRCh38
6325172	c.281A>G	p.E94G	Chr.6: 145635441-145635441 on Build GRCh38
6325171	c.522A>G	p.E174E	Chr.6: 145635441-145635441 on Build GRCh38
3736403	c.680C>T	p.A227V	Chr.6: 145635283-145635283 on Build GRCh38
5612246	c.288A>T	p.V96V	Chr.6: 145635434-145635434 on Build GRCh38
5893110	c.554G>A	p.G185E	Chr.6: 145635409-145635409 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs141919651	Chr.6: 145635475-145635475 on Build GRCh38
rs749100678	Chr.6: 145635491-145635491 on Build GRCh38
rs777767978	Chr.6: 145635476-145635476 on Build GRCh38
rs758599535	Chr.6: 145635306-145635306 on Build GRCh38
rs375544596	Chr.6: 145635382-145635382 on Build GRCh38
rs571938170	Chr.6: 145635343-145635343 on Build GRCh38
rs771562490	Chr.6: 145635371-145635371 on Build GRCh38
rs186710183	Chr.6: 145635344-145635344 on Build GRCh38
rs983510084	Chr.6: 145635398-145635398 on Build GRCh38
rs780241344	Chr.6: 145635318-145635318 on Build GRCh38
rs147645370	Chr.6: 145635467-145635467 on Build GRCh38
rs765641184	Chr.6: 145635396-145635396 on Build GRCh38
rs199856913	Chr.6: 145635473-145635473 on Build GRCh38
rs950789713	Chr.6: 145635393-145635393 on Build GRCh38
rs909269002	Chr.6: 145635413-145635413 on Build GRCh38
rs137852916	Chr.6: 145635451-145635451 on Build GRCh38
rs755014724	Chr.6: 145635322-145635322 on Build GRCh38
rs371974399	Chr.6: 145635452-145635452 on Build GRCh38
rs781291421	Chr.6: 145635468-145635468 on Build GRCh38
rs750776112	Chr.6: 145635423-145635423 on Build GRCh38
rs367827948	Chr.6: 145635368-145635368 on Build GRCh38
rs796052423	Chr.6: 145635410-145635410 on Build GRCh38
rs777678187	Chr.6: 145635351-145635351 on Build GRCh38
rs748048885	Chr.6: 145635332-145635332 on Build GRCh38
rs796052435	Chr.6: 145635323-145635324 on Build GRCh38
rs777039727	Chr.6: 145635379-145635379 on Build GRCh38
rs966314930	Chr.6: 145635414-145635414 on Build GRCh38
rs142658692	Chr.6: 145635363-145635363 on Build GRCh38
rs191406622	Chr.6: 145635394-145635394 on Build GRCh38
rs778240670	Chr.6: 145635314-145635314 on Build GRCh38
rs1006950710	Chr.6: 145635303-145635303 on Build GRCh38
rs1045816	Chr.6: 145635435-145635435 on Build GRCh38
rs371088938	Chr.6: 145635370-145635370 on Build GRCh38
rs748995485	Chr.6: 145635360-145635360 on Build GRCh38
rs144565191	Chr.6: 145635319-145635319 on Build GRCh38
rs148475381	Chr.6: 145635331-145635331 on Build GRCh38
rs751742437	Chr.6: 145635462-145635462 on Build GRCh38

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