Product Details

Primer Sequences
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Primer Chromosome Location
Chr.19: 46755615-46755850 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
5990449 c.299G>A p.R100H Chr.19: 46755749-46755749 on Build GRCh38
4388523 c.283C>T p.R95C Chr.19: 46755733-46755733 on Build GRCh38
6433614 c.347G>T p.R116L Chr.19: 46755797-46755797 on Build GRCh38
998486 c.168C>T p.F56F Chr.19: 46755618-46755618 on Build GRCh38
4799442 c.319G>T p.A107S Chr.19: 46755769-46755769 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs770711331 Chr.19: 46755716-46755716 on Build GRCh38
rs774192252 Chr.19: 46755717-46755717 on Build GRCh38
rs780639027 Chr.19: 46755678-46755678 on Build GRCh38
rs769443891 Chr.19: 46755690-46755690 on Build GRCh38
rs886042355 Chr.19: 46755824-46755824 on Build GRCh38
rs759451845 Chr.19: 46755721-46755721 on Build GRCh38
rs936866997 Chr.19: 46755773-46755773 on Build GRCh38
rs767399675 Chr.19: 46755733-46755733 on Build GRCh38
rs779619633 Chr.19: 46755672-46755672 on Build GRCh38
rs1007625212 Chr.19: 46755713-46755713 on Build GRCh38
rs752018916 Chr.19: 46755794-46755794 on Build GRCh38
rs104894683 Chr.19: 46755685-46755685 on Build GRCh38
rs966960260 Chr.19: 46755695-46755695 on Build GRCh38
rs1051411941 Chr.19: 46755804-46755804 on Build GRCh38
rs569336346 Chr.19: 46755660-46755660 on Build GRCh38
rs776733780 Chr.19: 46755745-46755745 on Build GRCh38
rs1054339656 Chr.19: 46755786-46755786 on Build GRCh38
rs376779706 Chr.19: 46755641-46755641 on Build GRCh38
rs765444642 Chr.19: 46755765-46755765 on Build GRCh38
rs143793528 Chr.19: 46755791-46755791 on Build GRCh38
rs995869558 Chr.19: 46755798-46755798 on Build GRCh38
rs1057518468 Chr.19: 46755767-46755767 on Build GRCh38
rs747647924 Chr.19: 46755688-46755688 on Build GRCh38
rs111754012 Chr.19: 46755642-46755642 on Build GRCh38
rs941905630 Chr.19: 46755800-46755800 on Build GRCh38
rs750679682 Chr.19: 46755769-46755769 on Build GRCh38
rs145283847 Chr.19: 46755684-46755684 on Build GRCh38
rs1051900223 Chr.19: 46755679-46755679 on Build GRCh38
rs758759348 Chr.19: 46755778-46755778 on Build GRCh38
rs955514933 Chr.19: 46755637-46755637 on Build GRCh38
rs764225864 Chr.19: 46755636-46755636 on Build GRCh38
rs149030303 Chr.19: 46755699-46755699 on Build GRCh38
rs925430989 Chr.19: 46755731-46755731 on Build GRCh38
rs779035324 Chr.19: 46755653-46755653 on Build GRCh38
rs781576638 Chr.19: 46755810-46755810 on Build GRCh38
rs749022695 Chr.19: 46755710-46755710 on Build GRCh38
rs747511445 Chr.19: 46755682-46755682 on Build GRCh38
rs761821795 Chr.19: 46755763-46755763 on Build GRCh38
rs990847012 Chr.19: 46755655-46755655 on Build GRCh38

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