Product Details

Primer Sequences
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Primer Chromosome Location
Chr.6: 145625637-145626216 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
3430082 c.713A>C p.*238S Chr.6: 145625695-145625695 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs370895865 Chr.6: 145625901-145625901 on Build GRCh38
rs779855994 Chr.6: 145625730-145625730 on Build GRCh38
rs779001772 Chr.6: 145625723-145625723 on Build GRCh38
rs960774355 Chr.6: 145625838-145625839 on Build GRCh38
rs760921024 Chr.6: 145625688-145625688 on Build GRCh38
rs779524114 Chr.6: 145626122-145626123 on Build GRCh38
rs796374782 Chr.6: 145625987-145625987 on Build GRCh38
rs540577431 Chr.6: 145625816-145625816 on Build GRCh38
rs779920055 Chr.6: 145625679-145625679 on Build GRCh38
rs761518719 Chr.6: 145625700-145625700 on Build GRCh38
rs570797209 Chr.6: 145626062-145626062 on Build GRCh38
rs774732204 Chr.6: 145625767-145625767 on Build GRCh38
rs563835932 Chr.6: 145625822-145625822 on Build GRCh38
rs553139522 Chr.6: 145626175-145626175 on Build GRCh38
rs750320097 Chr.6: 145625725-145625725 on Build GRCh38
rs886286727 Chr.6: 145626112-145626112 on Build GRCh38
rs1045820 Chr.6: 145625944-145625944 on Build GRCh38
rs1042181506 Chr.6: 145626021-145626021 on Build GRCh38
rs578114931 Chr.6: 145625814-145625814 on Build GRCh38
rs559221380 Chr.6: 145626026-145626026 on Build GRCh38
rs764319526 Chr.6: 145625696-145625696 on Build GRCh38
rs746348658 Chr.6: 145625771-145625771 on Build GRCh38
rs1000509812 Chr.6: 145625670-145625670 on Build GRCh38
rs976025456 Chr.6: 145626046-145626046 on Build GRCh38
rs767212465 Chr.6: 145625725-145625726 on Build GRCh38
rs528989693 Chr.6: 145625848-145625848 on Build GRCh38
rs1004261480 Chr.6: 145625825-145625825 on Build GRCh38
rs575160327 Chr.6: 145626031-145626031 on Build GRCh38
rs926609328 Chr.6: 145625914-145625914 on Build GRCh38
rs998194453 Chr.6: 145625756-145625756 on Build GRCh38
rs746793849 Chr.6: 145626114-145626115 on Build GRCh38
rs1016497573 Chr.6: 145626182-145626182 on Build GRCh38
rs974130544 Chr.6: 145625871-145625871 on Build GRCh38
rs991808061 Chr.6: 145625846-145625846 on Build GRCh38
rs1038730270 Chr.6: 145626037-145626037 on Build GRCh38
rs945263083 Chr.6: 145626077-145626077 on Build GRCh38
rs772365112 Chr.6: 145625776-145625776 on Build GRCh38
rs918099599 Chr.6: 145625945-145625945 on Build GRCh38
rs1004696966 Chr.6: 145626150-145626150 on Build GRCh38
rs148479369 Chr.6: 145625680-145625680 on Build GRCh38
rs1051074734 Chr.6: 145625770-145625770 on Build GRCh38
rs933240684 Chr.6: 145626058-145626058 on Build GRCh38
rs763495509 Chr.6: 145625665-145625665 on Build GRCh38
rs188918098 Chr.6: 145625698-145625698 on Build GRCh38
rs746676936 Chr.6: 145625746-145625746 on Build GRCh38
rs1022057411 Chr.6: 145625810-145625810 on Build GRCh38
rs1051023364 Chr.6: 145626059-145626059 on Build GRCh38
rs747651476 Chr.6: 145625752-145625752 on Build GRCh38
rs936403364 Chr.6: 145626036-145626036 on Build GRCh38
rs757334796 Chr.6: 145625714-145625714 on Build GRCh38
rs772906949 Chr.6: 145626123-145626123 on Build GRCh38
rs754599220 Chr.6: 145625750-145625750 on Build GRCh38
rs368881204 Chr.6: 145625729-145625729 on Build GRCh38
rs550365380 Chr.6: 145625907-145625907 on Build GRCh38
rs529327367 Chr.6: 145625979-145625979 on Build GRCh38
rs900444071 Chr.6: 145625745-145625745 on Build GRCh38
rs534931478 Chr.6: 145626134-145626134 on Build GRCh38
rs959651851 Chr.6: 145625919-145625919 on Build GRCh38
rs747400268 Chr.6: 145626135-145626135 on Build GRCh38
rs141812357 Chr.6: 145625826-145625826 on Build GRCh38
rs144579702 Chr.6: 145625669-145625669 on Build GRCh38
rs1043628938 Chr.6: 145626108-145626108 on Build GRCh38
rs774763720 Chr.6: 145625674-145625674 on Build GRCh38
rs575783301 Chr.6: 145625773-145625773 on Build GRCh38
rs769226603 Chr.6: 145625763-145625763 on Build GRCh38
rs752896079 Chr.6: 145625685-145625685 on Build GRCh38
rs147186801 Chr.6: 145625949-145625949 on Build GRCh38
rs771751602 Chr.6: 145626049-145626049 on Build GRCh38
rs73568389 Chr.6: 145625777-145625777 on Build GRCh38

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