Product Details

Primer Sequences

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Primer Chromosome Location

Chr.19: 46756515-46756778 on Build GRCh38 View in UCSC browser

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

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Cosmic ID	Mutation	AA	Transcript Location
3371390	c.1260C>G	p.F420L	Chr.19: 46756710-46756710 on Build GRCh38
4885259	c.1297C>A	p.L433M	Chr.19: 46756747-46756747 on Build GRCh38
3536208	c.1154C>T	p.S385L	Chr.19: 46756604-46756604 on Build GRCh38
4886188	c.1169G>T	p.R390L	Chr.19: 46756619-46756619 on Build GRCh38
3536209	c.1194C>T	p.V398V	Chr.19: 46756644-46756644 on Build GRCh38
3536210	c.1234C>T	p.H412Y	Chr.19: 46756684-46756684 on Build GRCh38
1394811	c.1242C>T	p.H414H	Chr.19: 46756692-46756692 on Build GRCh38
4613491	c.1136delG	p.A381fs*47	Chr.19: 46756586-46756586 on Build GRCh38
6991622	c.1219T>C	p.Y407H	Chr.19: 46756669-46756669 on Build GRCh38
141572	c.1171G>A	p.G391S	Chr.19: 46756621-46756621 on Build GRCh38
7281907	c.1105T>G	p.L369V	Chr.19: 46756555-46756555 on Build GRCh38
7318310	c.1090G>A	p.D364N	Chr.19: 46756540-46756540 on Build GRCh38
5793867	c.1162G>C	p.D388H	Chr.19: 46756612-46756612 on Build GRCh38
292005	c.1205T>A	p.F402Y	Chr.19: 46756655-46756655 on Build GRCh38
4684805	c.1243G>A	p.V415M	Chr.19: 46756693-46756693 on Build GRCh38
5498351	c.1307G>A	p.R436Q	Chr.19: 46756757-46756757 on Build GRCh38
4434977	c.1213G>A	p.V405M	Chr.19: 46756663-46756663 on Build GRCh38
5499375	c.1327G>A	p.E443K	Chr.19: 46756777-46756777 on Build GRCh38
1207185	c.1168C>T	p.R390C	Chr.19: 46756618-46756618 on Build GRCh38
4460679	c.1176C>T	p.F392F	Chr.19: 46756626-46756626 on Build GRCh38
1304822	c.1101C>G	p.I367M	Chr.19: 46756551-46756551 on Build GRCh38
1394810	c.1136G>A	p.R379Q	Chr.19: 46756586-46756586 on Build GRCh38
3773080	c.1114G>A	p.V372M	Chr.19: 46756564-46756564 on Build GRCh38
6330354	c.1201G>A	p.D401N	Chr.19: 46756651-46756651 on Build GRCh38
4079630	c.1135C>T	p.R379W	Chr.19: 46756585-46756585 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs748087383	Chr.19: 46756617-46756618 on Build GRCh38
rs772020161	Chr.19: 46756635-46756636 on Build GRCh38
rs764311774	Chr.19: 46756757-46756757 on Build GRCh38
rs767570224	Chr.19: 46756640-46756640 on Build GRCh38
rs778935490	Chr.19: 46756586-46756586 on Build GRCh38
rs749787381	Chr.19: 46756536-46756536 on Build GRCh38
rs370575962	Chr.19: 46756569-46756569 on Build GRCh38
rs552260353	Chr.19: 46756590-46756590 on Build GRCh38
rs60831455	Chr.19: 46756594-46756594 on Build GRCh38
rs759140693	Chr.19: 46756562-46756562 on Build GRCh38
rs886042793	Chr.19: 46756732-46756732 on Build GRCh38
rs749652080	Chr.19: 46756607-46756607 on Build GRCh38
rs145894568	Chr.19: 46756629-46756629 on Build GRCh38
rs745314956	Chr.19: 46756612-46756612 on Build GRCh38
rs138350337	Chr.19: 46756713-46756713 on Build GRCh38
rs886043075	Chr.19: 46756537-46756537 on Build GRCh38
rs764247100	Chr.19: 46756658-46756658 on Build GRCh38
rs771708277	Chr.19: 46756617-46756617 on Build GRCh38
rs768236258	Chr.19: 46756626-46756626 on Build GRCh38
rs140217866	Chr.19: 46756586-46756586 on Build GRCh38
rs886044134	Chr.19: 46756591-46756591 on Build GRCh38
rs746533953	Chr.19: 46756703-46756703 on Build GRCh38
rs763940706	Chr.19: 46756573-46756573 on Build GRCh38
rs886043959	Chr.19: 46756706-46756707 on Build GRCh38
rs779587871	Chr.19: 46756694-46756694 on Build GRCh38
rs773049327	Chr.19: 46756724-46756724 on Build GRCh38
rs752767486	Chr.19: 46756641-46756641 on Build GRCh38
rs771388442	Chr.19: 46756547-46756547 on Build GRCh38
rs762944990	Chr.19: 46756633-46756633 on Build GRCh38
rs104894680	Chr.19: 46756604-46756604 on Build GRCh38
rs534932677	Chr.19: 46756558-46756558 on Build GRCh38
rs771793862	Chr.19: 46756565-46756565 on Build GRCh38
rs775201067	Chr.19: 46756621-46756621 on Build GRCh38
rs779577195	Chr.19: 46756610-46756610 on Build GRCh38
rs765187002	Chr.19: 46756588-46756588 on Build GRCh38
rs779487099	Chr.19: 46756674-46756674 on Build GRCh38
rs754403441	Chr.19: 46756585-46756586 on Build GRCh38
rs756347653	Chr.19: 46756595-46756595 on Build GRCh38
rs762854536	Chr.19: 46756735-46756735 on Build GRCh38
rs144236975	Chr.19: 46756756-46756756 on Build GRCh38
rs374056230	Chr.19: 46756716-46756716 on Build GRCh38
rs1031408738	Chr.19: 46756591-46756591 on Build GRCh38
rs886042367	Chr.19: 46756718-46756718 on Build GRCh38
rs747867481	Chr.19: 46756719-46756719 on Build GRCh38
rs201076863	Chr.19: 46756686-46756686 on Build GRCh38
rs376739436	Chr.19: 46756673-46756673 on Build GRCh38
rs140679502	Chr.19: 46756627-46756627 on Build GRCh38
rs376989573	Chr.19: 46756721-46756721 on Build GRCh38
rs886044083	Chr.19: 46756717-46756717 on Build GRCh38
rs756326657	Chr.19: 46756644-46756644 on Build GRCh38
rs752959830	Chr.19: 46756592-46756592 on Build GRCh38
rs769568971	Chr.19: 46756720-46756720 on Build GRCh38
rs369599106	Chr.19: 46756692-46756692 on Build GRCh38
rs373719817	Chr.19: 46756608-46756608 on Build GRCh38
rs761782258	Chr.19: 46756587-46756587 on Build GRCh38
rs751586523	Chr.19: 46756589-46756589 on Build GRCh38
rs754174318	Chr.19: 46756662-46756662 on Build GRCh38
rs772950604	Chr.19: 46756719-46756720 on Build GRCh38
rs766343049	Chr.19: 46756748-46756748 on Build GRCh38
rs369432328	Chr.19: 46756605-46756605 on Build GRCh38
rs28937904	Chr.19: 46756663-46756663 on Build GRCh38

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