Product Details

Primer Sequences

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Primer Chromosome Location

Chr.2: 219421154-219421668 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

DES

Entrez Gene ID

1674

Gene Name

desmin

Gene Aliases

CSM1, CSM2, LGMD2R

UniGene

Hs.594952

Gene Chromosome Location

Chr.2: 219418377-219426739 on Build GRCh38

Transcripts

NM_001927.3

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
6382068	c.1196A>G	p.D399G	Chr.2: 219421512-219421512 on Build GRCh38
42844	c.1066T>A	p.F356I	Chr.2: 219421382-219421382 on Build GRCh38
3407593	c.1156C>T	p.R386C	Chr.2: 219421472-219421472 on Build GRCh38
6443234	c.1064G>T	p.R355L	Chr.2: 219421380-219421380 on Build GRCh38
5719912	c.1200G>A	p.V400V	Chr.2: 219421516-219421516 on Build GRCh38
4523492	c.1217G>A	p.R406Q	Chr.2: 219421533-219421533 on Build GRCh38
3577981	c.1080C>T	p.A360A	Chr.2: 219421396-219421396 on Build GRCh38
4521493	c.1114G>A	p.E372K	Chr.2: 219421430-219421430 on Build GRCh38
6528739	c.1135G>C	p.D379H	Chr.2: 219421451-219421451 on Build GRCh38
5755992	c.1144_1153del10	p.A382fs*10	Chr.2: 219421460-219421469 on Build GRCh38
3577983	c.1244G>A	p.R415Q	Chr.2: 219421560-219421560 on Build GRCh38
3577982	c.1228G>A	p.E410K	Chr.2: 219421544-219421544 on Build GRCh38
4590607	c.1042C>A	p.Q348K	Chr.2: 219421358-219421358 on Build GRCh38
5911619	c.1244+6G>A	p.?	Chr.2: 219421566-219421566 on Build GRCh38
6642749	c.1105C>T	p.R369C	Chr.2: 219421421-219421421 on Build GRCh38
1614401	c.1213T>A	p.Y405N	Chr.2: 219421529-219421529 on Build GRCh38
6019939	c.1136A>G	p.D379G	Chr.2: 219421452-219421452 on Build GRCh38
6850881	c.1059G>A	p.E353E	Chr.2: 219421375-219421375 on Build GRCh38
6156988	c.1103C>A	p.A368E	Chr.2: 219421419-219421419 on Build GRCh38
719875	c.1231G>C	p.G411R	Chr.2: 219421547-219421547 on Build GRCh38
6156989	c.1049G>T	p.R350L	Chr.2: 219421365-219421365 on Build GRCh38
6232977	c.1158C>T	p.R386R	Chr.2: 219421474-219421474 on Build GRCh38
719876	c.1031C>T	p.S344F	Chr.2: 219421347-219421347 on Build GRCh38
3044976	c.1051G>A	p.E351K	Chr.2: 219421367-219421367 on Build GRCh38
4994658	c.1147C>T	p.R383C	Chr.2: 219421463-219421463 on Build GRCh38
6259965	c.1148G>T	p.R383L	Chr.2: 219421464-219421464 on Build GRCh38
5058692	c.1027G>A	p.D343N	Chr.2: 219421343-219421343 on Build GRCh38
1016736	c.1064G>A	p.R355Q	Chr.2: 219421380-219421380 on Build GRCh38
3044981	c.1135G>A	p.D379N	Chr.2: 219421451-219421451 on Build GRCh38
7312902	c.1107C>T	p.R369R	Chr.2: 219421423-219421423 on Build GRCh38
3044978	c.1103C>T	p.A368V	Chr.2: 219421419-219421419 on Build GRCh38
7286262	c.1123C>T	p.R375W	Chr.2: 219421439-219421439 on Build GRCh38
6316236	c.1157G>T	p.R386L	Chr.2: 219421473-219421473 on Build GRCh38
4091673	c.1106G>A	p.R369H	Chr.2: 219421422-219421422 on Build GRCh38
1016738	c.1125G>A	p.R375R	Chr.2: 219421441-219421441 on Build GRCh38
1016737	c.1121T>C	p.I374T	Chr.2: 219421437-219421437 on Build GRCh38
3044982	c.1148G>A	p.R383H	Chr.2: 219421464-219421464 on Build GRCh38
4001515	c.1104G>A	p.A368A	Chr.2: 219421420-219421420 on Build GRCh38
5396277	c.1185G>A	p.K395K	Chr.2: 219421501-219421501 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs62636494	Chr.2: 219421415-219421415 on Build GRCh38
rs751942358	Chr.2: 219421559-219421559 on Build GRCh38
rs772061643	Chr.2: 219421608-219421608 on Build GRCh38
rs59308628	Chr.2: 219421425-219421425 on Build GRCh38
rs375286643	Chr.2: 219421286-219421286 on Build GRCh38
rs61130669	Chr.2: 219421511-219421511 on Build GRCh38
rs58898021	Chr.2: 219421385-219421385 on Build GRCh38
rs776251306	Chr.2: 219421290-219421290 on Build GRCh38
rs397516687	Chr.2: 219421542-219421542 on Build GRCh38
rs774411836	Chr.2: 219421382-219421382 on Build GRCh38
rs757700565	Chr.2: 219421568-219421568 on Build GRCh38
rs62636493	Chr.2: 219421491-219421491 on Build GRCh38
rs58409037	Chr.2: 219421391-219421399 on Build GRCh38
rs770494400	Chr.2: 219421289-219421289 on Build GRCh38
rs727502951	Chr.2: 219421505-219421505 on Build GRCh38
rs62636492	Chr.2: 219421364-219421364 on Build GRCh38
rs57955682	Chr.2: 219421470-219421470 on Build GRCh38
rs375218723	Chr.2: 219421439-219421439 on Build GRCh38
rs778793266	Chr.2: 219421595-219421595 on Build GRCh38
rs867886253	Chr.2: 219421386-219421386 on Build GRCh38
rs779098835	Chr.2: 219421333-219421333 on Build GRCh38
rs1029457073	Chr.2: 219421473-219421473 on Build GRCh38
rs894789839	Chr.2: 219421376-219421376 on Build GRCh38
rs61368398	Chr.2: 219421380-219421380 on Build GRCh38
rs778340812	Chr.2: 219421354-219421354 on Build GRCh38
rs776786349	Chr.2: 219421496-219421496 on Build GRCh38
rs61731508	Chr.2: 219421342-219421342 on Build GRCh38
rs750400395	Chr.2: 219421311-219421311 on Build GRCh38
rs371830218	Chr.2: 219421419-219421419 on Build GRCh38
rs768012238	Chr.2: 219421572-219421572 on Build GRCh38
rs121913000	Chr.2: 219421394-219421394 on Build GRCh38
rs58687088	Chr.2: 219421412-219421414 on Build GRCh38
rs778046116	Chr.2: 219421423-219421423 on Build GRCh38
rs57694264	Chr.2: 219421517-219421517 on Build GRCh38
rs121913004	Chr.2: 219421482-219421482 on Build GRCh38
rs763903197	Chr.2: 219421343-219421343 on Build GRCh38
rs865961434	Chr.2: 219421475-219421475 on Build GRCh38
rs200054661	Chr.2: 219421525-219421525 on Build GRCh38
rs369765867	Chr.2: 219421472-219421472 on Build GRCh38
rs747961089	Chr.2: 219421602-219421602 on Build GRCh38
rs57404866	Chr.2: 219421442-219421442 on Build GRCh38
rs376252504	Chr.2: 219421583-219421583 on Build GRCh38
rs375005961	Chr.2: 219421363-219421363 on Build GRCh38
rs1048490296	Chr.2: 219421303-219421303 on Build GRCh38
rs774323736	Chr.2: 219421474-219421474 on Build GRCh38
rs775085773	Chr.2: 219421371-219421371 on Build GRCh38
rs121913001	Chr.2: 219421494-219421494 on Build GRCh38
rs764908931	Chr.2: 219421296-219421296 on Build GRCh38
rs978282015	Chr.2: 219421440-219421440 on Build GRCh38
rs61726467	Chr.2: 219421553-219421553 on Build GRCh38
rs766531033	Chr.2: 219421405-219421405 on Build GRCh38
rs1050109896	Chr.2: 219421227-219421227 on Build GRCh38
rs794728988	Chr.2: 219421521-219421521 on Build GRCh38
rs201552590	Chr.2: 219421331-219421331 on Build GRCh38
rs764104303	Chr.2: 219421309-219421309 on Build GRCh38
rs570180828	Chr.2: 219421215-219421215 on Build GRCh38
rs112472991	Chr.2: 219421562-219421562 on Build GRCh38
rs764402662	Chr.2: 219421558-219421558 on Build GRCh38
rs759235297	Chr.2: 219421292-219421292 on Build GRCh38
rs747571500	Chr.2: 219421358-219421358 on Build GRCh38
rs57639980	Chr.2: 219421350-219421350 on Build GRCh38
rs769260641	Chr.2: 219421444-219421444 on Build GRCh38
rs2669119	Chr.2: 219421241-219421241 on Build GRCh38
rs57965306	Chr.2: 219421365-219421365 on Build GRCh38
rs955390251	Chr.2: 219421495-219421495 on Build GRCh38
rs761797652	Chr.2: 219421489-219421489 on Build GRCh38
rs552699414	Chr.2: 219421238-219421238 on Build GRCh38
rs748945548	Chr.2: 219421463-219421463 on Build GRCh38
rs1058284	Chr.2: 219421420-219421420 on Build GRCh38
rs762747040	Chr.2: 219421298-219421298 on Build GRCh38
rs121913003	Chr.2: 219421532-219421532 on Build GRCh38
rs766617280	Chr.2: 219421325-219421325 on Build GRCh38
rs143954788	Chr.2: 219421543-219421543 on Build GRCh38
rs202010947	Chr.2: 219421449-219421449 on Build GRCh38
rs1038729474	Chr.2: 219421263-219421263 on Build GRCh38
rs566280820	Chr.2: 219421329-219421329 on Build GRCh38
rs267607482	Chr.2: 219421340-219421340 on Build GRCh38
rs769505280	Chr.2: 219421366-219421366 on Build GRCh38
rs794727789	Chr.2: 219421483-219421483 on Build GRCh38
rs886044226	Chr.2: 219421346-219421346 on Build GRCh38
rs765293482	Chr.2: 219421513-219421513 on Build GRCh38
rs886041454	Chr.2: 219421539-219421539 on Build GRCh38
rs779749720	Chr.2: 219421458-219421458 on Build GRCh38
rs371688004	Chr.2: 219421297-219421297 on Build GRCh38
rs185864217	Chr.2: 219421235-219421235 on Build GRCh38
rs796115330	Chr.2: 219421509-219421509 on Build GRCh38
rs751244965	Chr.2: 219421320-219421320 on Build GRCh38
rs779473751	Chr.2: 219421582-219421582 on Build GRCh38
rs762808690	Chr.2: 219421379-219421379 on Build GRCh38
rs111537267	Chr.2: 219421339-219421339 on Build GRCh38
rs886043080	Chr.2: 219421529-219421529 on Build GRCh38
rs756252550	Chr.2: 219421323-219421323 on Build GRCh38
rs897228277	Chr.2: 219421314-219421314 on Build GRCh38
rs141592925	Chr.2: 219421395-219421395 on Build GRCh38
rs780628142	Chr.2: 219421435-219421435 on Build GRCh38
rs756205824	Chr.2: 219421393-219421393 on Build GRCh38
rs869025380	Chr.2: 219421550-219421550 on Build GRCh38
rs750992468	Chr.2: 219421577-219421577 on Build GRCh38
rs753995173	Chr.2: 219421410-219421410 on Build GRCh38
rs752030448	Chr.2: 219421432-219421432 on Build GRCh38
rs757792359	Chr.2: 219421433-219421433 on Build GRCh38

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