Product Details

Primer Sequences
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Primer Chromosome Location
Chr.19: 46755427-46755668 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
3105700 c.103C>T p.R35W Chr.19: 46755553-46755553 on Build GRCh38
998485 c.117C>T p.P39P Chr.19: 46755567-46755567 on Build GRCh38
6003674 c.14G>A p.R5H Chr.19: 46755464-46755464 on Build GRCh38
998486 c.168C>T p.F56F Chr.19: 46755618-46755618 on Build GRCh38
3404411 c.110G>A p.R37Q Chr.19: 46755560-46755560 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs201497063 Chr.19: 46755572-46755572 on Build GRCh38
rs766339195 Chr.19: 46755524-46755524 on Build GRCh38
rs760295001 Chr.19: 46755482-46755482 on Build GRCh38
rs769377092 Chr.19: 46755601-46755601 on Build GRCh38
rs752731569 Chr.19: 46755527-46755527 on Build GRCh38
rs746377232 Chr.19: 46755473-46755473 on Build GRCh38
rs757482530 Chr.19: 46755558-46755558 on Build GRCh38
rs772755355 Chr.19: 46755476-46755476 on Build GRCh38
rs779317138 Chr.19: 46755560-46755560 on Build GRCh38
rs748272589 Chr.19: 46755454-46755454 on Build GRCh38
rs761445941 Chr.19: 46755500-46755500 on Build GRCh38
rs768215450 Chr.19: 46755575-46755575 on Build GRCh38
rs776358648 Chr.19: 46755498-46755498 on Build GRCh38
rs886042998 Chr.19: 46755493-46755493 on Build GRCh38
rs777793760 Chr.19: 46755536-46755536 on Build GRCh38
rs761512840 Chr.19: 46755590-46755590 on Build GRCh38
rs773024545 Chr.19: 46755619-46755619 on Build GRCh38
rs750241299 Chr.19: 46755509-46755509 on Build GRCh38
rs886042506 Chr.19: 46755615-46755616 on Build GRCh38
rs867239704 Chr.19: 46755559-46755559 on Build GRCh38
rs955514933 Chr.19: 46755637-46755637 on Build GRCh38
rs766253113 Chr.19: 46755620-46755620 on Build GRCh38
rs756205019 Chr.19: 46755533-46755533 on Build GRCh38
rs772667330 Chr.19: 46755565-46755565 on Build GRCh38
rs369017129 Chr.19: 46755448-46755448 on Build GRCh38
rs878854376 Chr.19: 46755526-46755527 on Build GRCh38
rs759539583 Chr.19: 46755633-46755633 on Build GRCh38
rs781231882 Chr.19: 46755449-46755449 on Build GRCh38
rs587777223 Chr.19: 46755451-46755451 on Build GRCh38
rs756295058 Chr.19: 46755459-46755459 on Build GRCh38
rs1015213074 Chr.19: 46755568-46755568 on Build GRCh38
rs768376273 Chr.19: 46755487-46755487 on Build GRCh38
rs886043192 Chr.19: 46755535-46755535 on Build GRCh38
rs373388363 Chr.19: 46755468-46755468 on Build GRCh38
rs878855079 Chr.19: 46755564-46755564 on Build GRCh38
rs746276490 Chr.19: 46755561-46755561 on Build GRCh38
rs28937905 Chr.19: 46755610-46755610 on Build GRCh38
rs376779706 Chr.19: 46755641-46755641 on Build GRCh38
rs754088436 Chr.19: 46755554-46755554 on Build GRCh38
rs751506122 Chr.19: 46755622-46755622 on Build GRCh38
rs2287717 Chr.19: 46755585-46755585 on Build GRCh38
rs995818740 Chr.19: 46755516-46755516 on Build GRCh38
rs201951207 Chr.19: 46755518-46755518 on Build GRCh38
rs997311165 Chr.19: 46755623-46755623 on Build GRCh38
rs111754012 Chr.19: 46755642-46755642 on Build GRCh38
rs565563742 Chr.19: 46755504-46755504 on Build GRCh38
rs949601069 Chr.19: 46755445-46755445 on Build GRCh38
rs778085300 Chr.19: 46755460-46755460 on Build GRCh38
rs764225864 Chr.19: 46755636-46755636 on Build GRCh38
rs771333733 Chr.19: 46755461-46755461 on Build GRCh38
rs775109010 Chr.19: 46755480-46755480 on Build GRCh38
rs786205520 Chr.19: 46755483-46755483 on Build GRCh38
rs112243410 Chr.19: 46755537-46755537 on Build GRCh38
rs954656663 Chr.19: 46755519-46755519 on Build GRCh38

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