Product Details

Primer Sequences
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Primer Chromosome Location
Chr.19: 46756151-46756386 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
6432524 c.761G>A p.R254H Chr.19: 46756211-46756211 on Build GRCh38
4797894 c.799G>A p.A267T Chr.19: 46756249-46756249 on Build GRCh38
6558043 c.848G>T p.R283L Chr.19: 46756298-46756298 on Build GRCh38
5511093 c.884G>A p.R295H Chr.19: 46756334-46756334 on Build GRCh38
6228728 c.891C>T p.F297F Chr.19: 46756341-46756341 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1012811921 Chr.19: 46756248-46756248 on Build GRCh38
rs762283381 Chr.19: 46756354-46756354 on Build GRCh38
rs1042464853 Chr.19: 46756171-46756171 on Build GRCh38
rs886043401 Chr.19: 46756342-46756342 on Build GRCh38
rs772140465 Chr.19: 46756279-46756279 on Build GRCh38
rs745994685 Chr.19: 46756278-46756278 on Build GRCh38
rs766086486 Chr.19: 46756227-46756227 on Build GRCh38
rs77138370 Chr.19: 46756272-46756272 on Build GRCh38
rs1025118379 Chr.19: 46756259-46756259 on Build GRCh38
rs963039919 Chr.19: 46756304-46756304 on Build GRCh38
rs1000823800 Chr.19: 46756189-46756189 on Build GRCh38
rs528000488 Chr.19: 46756190-46756190 on Build GRCh38
rs747307601 Chr.19: 46756298-46756298 on Build GRCh38
rs886044497 Chr.19: 46756199-46756199 on Build GRCh38
rs28937900 Chr.19: 46756276-46756276 on Build GRCh38
rs959679901 Chr.19: 46756207-46756207 on Build GRCh38
rs561169991 Chr.19: 46756231-46756231 on Build GRCh38
rs769005880 Chr.19: 46756335-46756335 on Build GRCh38
rs764641619 Chr.19: 46756181-46756181 on Build GRCh38
rs104894689 Chr.19: 46756214-46756214 on Build GRCh38
rs886042921 Chr.19: 46756253-46756253 on Build GRCh38
rs777099929 Chr.19: 46756326-46756326 on Build GRCh38
rs775795075 Chr.19: 46756295-46756295 on Build GRCh38
rs765811792 Chr.19: 46756357-46756357 on Build GRCh38
rs866452610 Chr.19: 46756310-46756310 on Build GRCh38
rs563033008 Chr.19: 46756348-46756348 on Build GRCh38
rs754829416 Chr.19: 46756260-46756260 on Build GRCh38
rs886044496 Chr.19: 46756188-46756199 on Build GRCh38
rs757955092 Chr.19: 46756195-46756195 on Build GRCh38
rs794727651 Chr.19: 46756179-46756179 on Build GRCh38
rs751263898 Chr.19: 46756241-46756241 on Build GRCh38
rs867006194 Chr.19: 46756258-46756258 on Build GRCh38
rs866544656 Chr.19: 46756316-46756316 on Build GRCh38
rs781205564 Chr.19: 46756263-46756263 on Build GRCh38
rs921829148 Chr.19: 46756343-46756343 on Build GRCh38
rs104894691 Chr.19: 46756349-46756349 on Build GRCh38

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