Product Details

Primer Sequences
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Primer Chromosome Location
Chr.19: 46746206-46746711 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 NM_001039877.1 NM_013403.2 XM_006723171.2 XM_006723172.2 XM_011526878.1 XM_017026719.1

Gene Symbol
STRN4
Entrez Gene ID
29888
Gene Name
striatin 4
Gene Aliases
PPP2R6C, ZIN, zinedin
UniGene
Hs.631590
Gene Chromosome Location
Chr.19: 46719509-46746475 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 NM_001039877.1 NM_013403.2 XM_006723171.2 XM_006723172.2 XM_011526878.1 XM_017026719.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5755416 c.194T>C p.L65P Chr.19: 46746237-46746237 on Build GRCh38
5755417 c.194T>C p.L65P Chr.19: 46746237-46746237 on Build GRCh38
5017574 c.213delT p.F71fs*40 Chr.19: 46746218-46746218 on Build GRCh38
5017573 c.213delT p.F71fs*40 Chr.19: 46746218-46746218 on Build GRCh38
7279140 c.163G>A p.G55R Chr.19: 46746268-46746268 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs938942759 Chr.19: 46746511-46746511 on Build GRCh38
rs751915804 Chr.19: 46746254-46746262 on Build GRCh38
rs569440158 Chr.19: 46746401-46746401 on Build GRCh38
rs897347163 Chr.19: 46746553-46746553 on Build GRCh38
rs980546987 Chr.19: 46746503-46746504 on Build GRCh38
rs942727816 Chr.19: 46746685-46746685 on Build GRCh38
rs781322806 Chr.19: 46746247-46746247 on Build GRCh38
rs755818262 Chr.19: 46746274-46746275 on Build GRCh38
rs1022211963 Chr.19: 46746243-46746243 on Build GRCh38
rs923245677 Chr.19: 46746571-46746571 on Build GRCh38
rs376315232 Chr.19: 46746494-46746494 on Build GRCh38
rs1037162430 Chr.19: 46746268-46746268 on Build GRCh38
rs748364500 Chr.19: 46746249-46746249 on Build GRCh38
rs778941845 Chr.19: 46746238-46746238 on Build GRCh38
rs956081927 Chr.19: 46746496-46746496 on Build GRCh38
rs779139224 Chr.19: 46746510-46746510 on Build GRCh38
rs933291822 Chr.19: 46746631-46746631 on Build GRCh38
rs948738842 Chr.19: 46746501-46746501 on Build GRCh38
rs914668227 Chr.19: 46746501-46746502 on Build GRCh38
rs1693994 Chr.19: 46746450-46746450 on Build GRCh38
rs570526117 Chr.19: 46746658-46746658 on Build GRCh38
rs111412546 Chr.19: 46746615-46746615 on Build GRCh38
rs896875286 Chr.19: 46746332-46746332 on Build GRCh38
rs866490833 Chr.19: 46746481-46746481 on Build GRCh38
rs749699244 Chr.19: 46746309-46746309 on Build GRCh38
rs1019521143 Chr.19: 46746407-46746407 on Build GRCh38
rs755064179 Chr.19: 46746245-46746245 on Build GRCh38
rs965329103 Chr.19: 46746438-46746438 on Build GRCh38
rs990270908 Chr.19: 46746500-46746501 on Build GRCh38
rs773540769 Chr.19: 46746257-46746257 on Build GRCh38
rs538487169 Chr.19: 46746446-46746446 on Build GRCh38
rs757111465 Chr.19: 46746235-46746235 on Build GRCh38
rs539624445 Chr.19: 46746494-46746495 on Build GRCh38
rs867526941 Chr.19: 46746504-46746504 on Build GRCh38
rs911311967 Chr.19: 46746646-46746646 on Build GRCh38
rs977176331 Chr.19: 46746686-46746686 on Build GRCh38
rs901057092 Chr.19: 46746654-46746654 on Build GRCh38
rs867067375 Chr.19: 46746502-46746502 on Build GRCh38
rs889568712 Chr.19: 46746617-46746617 on Build GRCh38
rs771298555 Chr.19: 46746313-46746313 on Build GRCh38
rs200560192 Chr.19: 46746503-46746503 on Build GRCh38
rs1006556371 Chr.19: 46746627-46746627 on Build GRCh38
rs770056978 Chr.19: 46746256-46746256 on Build GRCh38
rs889440482 Chr.19: 46746398-46746398 on Build GRCh38
rs931504483 Chr.19: 46746600-46746603 on Build GRCh38
rs1037131302 Chr.19: 46746512-46746512 on Build GRCh38
rs369487077 Chr.19: 46746688-46746688 on Build GRCh38
rs747010209 Chr.19: 46746240-46746240 on Build GRCh38
rs774940084 Chr.19: 46746318-46746318 on Build GRCh38
rs1027043038 Chr.19: 46746390-46746390 on Build GRCh38
rs557647721 Chr.19: 46746495-46746495 on Build GRCh38
rs535068059 Chr.19: 46746610-46746628 on Build GRCh38
rs556058819 Chr.19: 46746347-46746347 on Build GRCh38
rs530317888 Chr.19: 46746502-46746503 on Build GRCh38

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