Product Details

Primer Sequences
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Primer Chromosome Location
Chr.19: 46756307-46756556 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
FKRP
Entrez Gene ID
79147
Gene Name
fukutin related protein
Gene Aliases
LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
UniGene
Hs.515493
Gene Chromosome Location
Chr.19: 46746015-46758575 on Build GRCh38
Transcripts
NM_001039885.2 NM_024301.4 XM_005259247.2 XM_005259248.2 XM_005259249.4 XM_011527306.1 XM_011527307.1 XM_017027297.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4132180 c.1027G>C p.E343Q Chr.19: 46756477-46756477 on Build GRCh38
5511093 c.884G>A p.R295H Chr.19: 46756334-46756334 on Build GRCh38
4437316 c.944C>T p.P315L Chr.19: 46756394-46756394 on Build GRCh38
6569470 c.961G>A p.A321T Chr.19: 46756411-46756411 on Build GRCh38
4563386 c.970G>C p.E324Q Chr.19: 46756420-46756420 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs755968761 Chr.19: 46756404-46756404 on Build GRCh38
rs768917965 Chr.19: 46756444-46756444 on Build GRCh38
rs778062455 Chr.19: 46756529-46756529 on Build GRCh38
rs886043401 Chr.19: 46756342-46756342 on Build GRCh38
rs587780334 Chr.19: 46756477-46756477 on Build GRCh38
rs894313503 Chr.19: 46756509-46756509 on Build GRCh38
rs940382826 Chr.19: 46756440-46756440 on Build GRCh38
rs886044307 Chr.19: 46756420-46756421 on Build GRCh38
rs749787381 Chr.19: 46756536-46756536 on Build GRCh38
rs767312918 Chr.19: 46756482-46756482 on Build GRCh38
rs878922067 Chr.19: 46756493-46756493 on Build GRCh38
rs982005875 Chr.19: 46756501-46756501 on Build GRCh38
rs777792222 Chr.19: 46756405-46756405 on Build GRCh38
rs886043075 Chr.19: 46756537-46756537 on Build GRCh38
rs200025577 Chr.19: 46756388-46756388 on Build GRCh38
rs945877846 Chr.19: 46756398-46756398 on Build GRCh38
rs906664695 Chr.19: 46756532-46756532 on Build GRCh38
rs104894679 Chr.19: 46756376-46756376 on Build GRCh38
rs563033008 Chr.19: 46756348-46756348 on Build GRCh38
rs753811189 Chr.19: 46756486-46756486 on Build GRCh38
rs886038682 Chr.19: 46756506-46756506 on Build GRCh38
rs776947530 Chr.19: 46756453-46756453 on Build GRCh38
rs911700598 Chr.19: 46756383-46756383 on Build GRCh38
rs748798133 Chr.19: 46756393-46756393 on Build GRCh38
rs752582904 Chr.19: 46756397-46756397 on Build GRCh38
rs143031195 Chr.19: 46756523-46756523 on Build GRCh38
rs28937901 Chr.19: 46756396-46756396 on Build GRCh38
rs104894692 Chr.19: 46756369-46756369 on Build GRCh38
rs921829148 Chr.19: 46756343-46756343 on Build GRCh38
rs762283381 Chr.19: 46756354-46756354 on Build GRCh38
rs868138875 Chr.19: 46756385-46756385 on Build GRCh38
rs754741423 Chr.19: 46756386-46756386 on Build GRCh38
rs760535820 Chr.19: 46756485-46756485 on Build GRCh38
rs751676482 Chr.19: 46756504-46756504 on Build GRCh38
rs886043458 Chr.19: 46756432-46756434 on Build GRCh38
rs565499116 Chr.19: 46756510-46756510 on Build GRCh38
rs780087471 Chr.19: 46756499-46756499 on Build GRCh38
rs757201268 Chr.19: 46756488-46756488 on Build GRCh38
rs781414509 Chr.19: 46756511-46756511 on Build GRCh38
rs77351928 Chr.19: 46756470-46756470 on Build GRCh38
rs794727653 Chr.19: 46756414-46756414 on Build GRCh38
rs769005880 Chr.19: 46756335-46756335 on Build GRCh38
rs762546512 Chr.19: 46756370-46756370 on Build GRCh38
rs777099929 Chr.19: 46756326-46756326 on Build GRCh38
rs104894684 Chr.19: 46756403-46756403 on Build GRCh38
rs886044183 Chr.19: 46756420-46756420 on Build GRCh38
rs765905650 Chr.19: 46756478-46756478 on Build GRCh38
rs770195088 Chr.19: 46756528-46756528 on Build GRCh38
rs765811792 Chr.19: 46756357-46756357 on Build GRCh38
rs770149835 Chr.19: 46756461-46756461 on Build GRCh38
rs398124395 Chr.19: 46756391-46756391 on Build GRCh38
rs774059783 Chr.19: 46756479-46756479 on Build GRCh38
rs867877678 Chr.19: 46756429-46756429 on Build GRCh38
rs747219711 Chr.19: 46756430-46756430 on Build GRCh38
rs104894691 Chr.19: 46756349-46756349 on Build GRCh38
rs532054402 Chr.19: 46756419-46756419 on Build GRCh38
rs745882222 Chr.19: 46756412-46756412 on Build GRCh38
rs748542420 Chr.19: 46756458-46756458 on Build GRCh38
rs765885747 Chr.19: 46756378-46756378 on Build GRCh38

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