Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 143917585-143917822 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
PLEC
Entrez Gene ID
5339
Gene Name
plectin
Gene Aliases
EBS1, EBSMD, EBSND, EBSO, EBSOG, EBSPA, HD1, LGMD2Q, PCN, PLEC1, PLEC1b, PLTN
UniGene
Hs.434248
Gene Chromosome Location
Chr.8: 143915147-143976800 on Build GRCh38
Transcripts
NM_000445.4 NM_201378.3 NM_201379.2 NM_201380.3 NM_201381.2 NM_201382.3 NM_201383.2 NM_201384.2 XM_005250976.3 XM_005250978.3 XM_005250979.4 XM_005250980.4 XM_005250981.3 XM_005250982.3 XM_005250983.2 XM_005250984.4 XM_006716588.3 XM_006716589.2 XM_006716590.3 XM_011517130.2 XM_011517131.2 XM_011517132.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
7114717 c.12223G>C p.E4075Q Chr.8: 143917598-143917598 on Build GRCh38
5482165 c.12239T>A p.I4080N Chr.8: 143917663-143917663 on Build GRCh38
6749230 c.12163C>T p.R4055C Chr.8: 143917616-143917616 on Build GRCh38
3897666 c.12265C>A p.P4089T Chr.8: 143917637-143917637 on Build GRCh38
5014825 c.12090C>G p.F4030L Chr.8: 143917743-143917743 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs782244317 Chr.8: 143917616-143917616 on Build GRCh38
rs797044715 Chr.8: 143917741-143917741 on Build GRCh38
rs782130507 Chr.8: 143917746-143917746 on Build GRCh38
rs989279969 Chr.8: 143917796-143917796 on Build GRCh38
rs200383296 Chr.8: 143917658-143917658 on Build GRCh38
rs1009404915 Chr.8: 143917611-143917611 on Build GRCh38
rs782509992 Chr.8: 143917793-143917793 on Build GRCh38
rs555118583 Chr.8: 143917800-143917800 on Build GRCh38
rs541833704 Chr.8: 143917799-143917799 on Build GRCh38
rs762178584 Chr.8: 143917794-143917794 on Build GRCh38
rs574454725 Chr.8: 143917773-143917773 on Build GRCh38
rs781928472 Chr.8: 143917709-143917709 on Build GRCh38
rs201751379 Chr.8: 143917613-143917613 on Build GRCh38
rs369601641 Chr.8: 143917623-143917623 on Build GRCh38
rs782351381 Chr.8: 143917686-143917686 on Build GRCh38
rs189061273 Chr.8: 143917757-143917757 on Build GRCh38
rs782570858 Chr.8: 143917679-143917679 on Build GRCh38
rs782773458 Chr.8: 143917662-143917662 on Build GRCh38
rs782728318 Chr.8: 143917772-143917772 on Build GRCh38
rs782164454 Chr.8: 143917643-143917643 on Build GRCh38
rs546509221 Chr.8: 143917790-143917790 on Build GRCh38
rs372023641 Chr.8: 143917791-143917791 on Build GRCh38
rs782207518 Chr.8: 143917802-143917802 on Build GRCh38
rs370636109 Chr.8: 143917699-143917699 on Build GRCh38
rs201051109 Chr.8: 143917634-143917634 on Build GRCh38
rs377288637 Chr.8: 143917614-143917614 on Build GRCh38
rs782138337 Chr.8: 143917637-143917637 on Build GRCh38
rs370144166 Chr.8: 143917641-143917641 on Build GRCh38
rs781974209 Chr.8: 143917629-143917629 on Build GRCh38
rs782005939 Chr.8: 143917687-143917687 on Build GRCh38
rs782493842 Chr.8: 143917782-143917782 on Build GRCh38
rs782237359 Chr.8: 143917680-143917680 on Build GRCh38
rs781784602 Chr.8: 143917642-143917642 on Build GRCh38
rs374049856 Chr.8: 143917743-143917743 on Build GRCh38
rs781867128 Chr.8: 143917667-143917667 on Build GRCh38
rs782758760 Chr.8: 143917749-143917749 on Build GRCh38
rs373820615 Chr.8: 143917671-143917671 on Build GRCh38
rs564907731 Chr.8: 143917795-143917795 on Build GRCh38
rs781897621 Chr.8: 143917635-143917635 on Build GRCh38
rs376460999 Chr.8: 143917674-143917674 on Build GRCh38
rs199948550 Chr.8: 143917615-143917615 on Build GRCh38
rs201670327 Chr.8: 143917803-143917803 on Build GRCh38
rs200206105 Chr.8: 143917631-143917631 on Build GRCh38
rs782413461 Chr.8: 143917708-143917708 on Build GRCh38
rs368187102 Chr.8: 143917758-143917758 on Build GRCh38
rs782246537 Chr.8: 143917704-143917704 on Build GRCh38
rs782043203 Chr.8: 143917718-143917718 on Build GRCh38
rs775006251 Chr.8: 143917670-143917670 on Build GRCh38
rs782438173 Chr.8: 143917618-143917618 on Build GRCh38

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