Product Details

Primer Sequences
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Primer Chromosome Location
Chr.6: 145627407-145627904 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
143620 c.965_966GG>AA p.G322E Chr.6: 145627446-145627447 on Build GRCh38
6414770 c.722G>A p.R241Q Chr.6: 145627690-145627690 on Build GRCh38
1440954 c.822C>T p.T274T Chr.6: 145627590-145627590 on Build GRCh38
6655322 c.735G>A p.L245L Chr.6: 145627677-145627677 on Build GRCh38
1440953 c.902C>T p.P301L Chr.6: 145627510-145627510 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs753276844 Chr.6: 145627730-145627730 on Build GRCh38
rs919434797 Chr.6: 145627876-145627876 on Build GRCh38
rs548548034 Chr.6: 145627700-145627700 on Build GRCh38
rs776270507 Chr.6: 145627699-145627699 on Build GRCh38
rs199501998 Chr.6: 145627682-145627682 on Build GRCh38
rs754954540 Chr.6: 145627653-145627654 on Build GRCh38
rs759304458 Chr.6: 145627750-145627750 on Build GRCh38
rs778250304 Chr.6: 145627603-145627603 on Build GRCh38
rs770041557 Chr.6: 145627542-145627542 on Build GRCh38
rs104893950 Chr.6: 145627691-145627691 on Build GRCh38
rs1050606699 Chr.6: 145627511-145627511 on Build GRCh38
rs373517480 Chr.6: 145627715-145627715 on Build GRCh38
rs796052436 Chr.6: 145627594-145627594 on Build GRCh38
rs755516128 Chr.6: 145627605-145627605 on Build GRCh38
rs753673746 Chr.6: 145627746-145627746 on Build GRCh38
rs958366800 Chr.6: 145627597-145627597 on Build GRCh38
rs998732856 Chr.6: 145627749-145627749 on Build GRCh38
rs145030227 Chr.6: 145627697-145627697 on Build GRCh38
rs772082648 Chr.6: 145627695-145627695 on Build GRCh38
rs778069029 Chr.6: 145627615-145627615 on Build GRCh38
rs768781694 Chr.6: 145627433-145627433 on Build GRCh38
rs370469632 Chr.6: 145627437-145627437 on Build GRCh38
rs773315475 Chr.6: 145627476-145627476 on Build GRCh38
rs137852917 Chr.6: 145627577-145627577 on Build GRCh38
rs765937682 Chr.6: 145627728-145627728 on Build GRCh38
rs755604682 Chr.6: 145627665-145627665 on Build GRCh38
rs748514820 Chr.6: 145627610-145627610 on Build GRCh38
rs763812238 Chr.6: 145627590-145627590 on Build GRCh38
rs761066614 Chr.6: 145627564-145627564 on Build GRCh38
rs148164886 Chr.6: 145627513-145627513 on Build GRCh38
rs1004871867 Chr.6: 145627871-145627871 on Build GRCh38
rs756545879 Chr.6: 145627739-145627739 on Build GRCh38
rs771072125 Chr.6: 145627620-145627620 on Build GRCh38
rs1027380464 Chr.6: 145627744-145627744 on Build GRCh38
rs763098296 Chr.6: 145627567-145627567 on Build GRCh38
rs796052427 Chr.6: 145627534-145627534 on Build GRCh38
rs1023964285 Chr.6: 145627747-145627747 on Build GRCh38
rs764974085 Chr.6: 145627708-145627708 on Build GRCh38
rs941854726 Chr.6: 145627442-145627442 on Build GRCh38
rs201053542 Chr.6: 145627618-145627618 on Build GRCh38
rs781726269 Chr.6: 145627607-145627607 on Build GRCh38
rs112286444 Chr.6: 145627745-145627745 on Build GRCh38
rs957197554 Chr.6: 145627795-145627795 on Build GRCh38
rs587776554 Chr.6: 145627462-145627463 on Build GRCh38
rs765227414 Chr.6: 145627793-145627793 on Build GRCh38
rs949836838 Chr.6: 145627464-145627464 on Build GRCh38
rs760312062 Chr.6: 145627589-145627589 on Build GRCh38
rs755642217 Chr.6: 145627432-145627432 on Build GRCh38
rs138798058 Chr.6: 145627651-145627651 on Build GRCh38
rs915350339 Chr.6: 145627807-145627807 on Build GRCh38
rs1009042264 Chr.6: 145627557-145627557 on Build GRCh38
rs986127092 Chr.6: 145627810-145627810 on Build GRCh38
rs538717552 Chr.6: 145627668-145627668 on Build GRCh38
rs141975071 Chr.6: 145627676-145627676 on Build GRCh38
rs766334722 Chr.6: 145627478-145627478 on Build GRCh38
rs747386662 Chr.6: 145627451-145627451 on Build GRCh38
rs765820100 Chr.6: 145627598-145627598 on Build GRCh38
rs768538455 Chr.6: 145627698-145627698 on Build GRCh38
rs906649133 Chr.6: 145627848-145627848 on Build GRCh38
rs113987171 Chr.6: 145627809-145627809 on Build GRCh38
rs766830083 Chr.6: 145627598-145627598 on Build GRCh38
rs777367333 Chr.6: 145627826-145627826 on Build GRCh38
rs752388430 Chr.6: 145627505-145627505 on Build GRCh38
rs141361861 Chr.6: 145627509-145627509 on Build GRCh38
rs752149581 Chr.6: 145627604-145627604 on Build GRCh38
rs555736319 Chr.6: 145627524-145627524 on Build GRCh38
rs995004393 Chr.6: 145627735-145627735 on Build GRCh38
rs989988968 Chr.6: 145627798-145627798 on Build GRCh38
rs931693695 Chr.6: 145627671-145627671 on Build GRCh38
rs772620616 Chr.6: 145627450-145627450 on Build GRCh38
rs931771940 Chr.6: 145627506-145627506 on Build GRCh38
rs201367187 Chr.6: 145627623-145627623 on Build GRCh38
rs796052428 Chr.6: 145627510-145627510 on Build GRCh38
rs1027738243 Chr.6: 145627588-145627588 on Build GRCh38
rs977281965 Chr.6: 145627649-145627649 on Build GRCh38
rs749937487 Chr.6: 145627654-145627654 on Build GRCh38
rs773540623 Chr.6: 145627431-145627433 on Build GRCh38
rs930805933 Chr.6: 145627881-145627881 on Build GRCh38
rs1014840416 Chr.6: 145627638-145627638 on Build GRCh38
rs777957775 Chr.6: 145627679-145627679 on Build GRCh38
rs146321088 Chr.6: 145627690-145627690 on Build GRCh38
rs754391064 Chr.6: 145627650-145627651 on Build GRCh38
rs774234576 Chr.6: 145627536-145627536 on Build GRCh38
rs181746165 Chr.6: 145627611-145627611 on Build GRCh38
rs1042622916 Chr.6: 145627523-145627523 on Build GRCh38
rs374043005 Chr.6: 145627669-145627669 on Build GRCh38
rs762084123 Chr.6: 145627470-145627470 on Build GRCh38
rs769177120 Chr.6: 145627516-145627516 on Build GRCh38
rs754779408 Chr.6: 145627493-145627493 on Build GRCh38
rs752635744 Chr.6: 145627803-145627803 on Build GRCh38
rs200996083 Chr.6: 145627428-145627428 on Build GRCh38
rs762566139 Chr.6: 145627718-145627718 on Build GRCh38
rs375918261 Chr.6: 145627629-145627629 on Build GRCh38
rs751430731 Chr.6: 145627486-145627486 on Build GRCh38
rs200641543 Chr.6: 145627636-145627636 on Build GRCh38
rs753561820 Chr.6: 145627644-145627644 on Build GRCh38
rs780627770 Chr.6: 145627514-145627514 on Build GRCh38
rs199586710 Chr.6: 145627650-145627650 on Build GRCh38
rs897601301 Chr.6: 145627564-145627564 on Build GRCh38
rs767351394 Chr.6: 145627582-145627582 on Build GRCh38
rs773228187 Chr.6: 145627549-145627549 on Build GRCh38
rs769087393 Chr.6: 145627452-145627452 on Build GRCh38
rs749563452 Chr.6: 145627681-145627681 on Build GRCh38
rs777308612 Chr.6: 145627438-145627438 on Build GRCh38
rs367551823 Chr.6: 145627571-145627571 on Build GRCh38
rs971338851 Chr.6: 145627748-145627748 on Build GRCh38
rs746413047 Chr.6: 145627439-145627439 on Build GRCh38
rs755742563 Chr.6: 145627508-145627508 on Build GRCh38
rs758212792 Chr.6: 145627824-145627824 on Build GRCh38
rs777017987 Chr.6: 145627455-145627455 on Build GRCh38
rs150609514 Chr.6: 145627627-145627627 on Build GRCh38
rs762115387 Chr.6: 145627587-145627587 on Build GRCh38
rs375436219 Chr.6: 145627494-145627494 on Build GRCh38
rs759427349 Chr.6: 145627578-145627578 on Build GRCh38
rs754302541 Chr.6: 145627465-145627467 on Build GRCh38
rs142027344 Chr.6: 145627563-145627563 on Build GRCh38
rs1036585048 Chr.6: 145627832-145627832 on Build GRCh38
rs200635995 Chr.6: 145627622-145627622 on Build GRCh38
rs762852066 Chr.6: 145627477-145627477 on Build GRCh38
rs890734823 Chr.6: 145627693-145627693 on Build GRCh38
rs189479757 Chr.6: 145627475-145627475 on Build GRCh38

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