Product Details

Primer Sequences

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Primer Chromosome Location

Chr.2: 219420064-219420337 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
333405	c.709G>C	p.A237P	Chr.2: 219420320-219420320 on Build GRCh38
310537	c.625G>T	p.A209S	Chr.2: 219420141-219420141 on Build GRCh38
5984805	c.582G>T	p.L194L	Chr.2: 219420098-219420098 on Build GRCh38
5529689	c.708C>T	p.I236I	Chr.2: 219420319-219420319 on Build GRCh38
3577977	c.629C>T	p.A210V	Chr.2: 219420145-219420145 on Build GRCh38
1203410	c.679C>T	p.R227C	Chr.2: 219420290-219420290 on Build GRCh38
6440351	c.607G>A	p.E203K	Chr.2: 219420123-219420123 on Build GRCh38
6439696	c.670G>A	p.D224N	Chr.2: 219420281-219420281 on Build GRCh38
6090467	c.634C>A	p.R212R	Chr.2: 219420150-219420150 on Build GRCh38
5736428	c.643G>A	p.V215M	Chr.2: 219420254-219420254 on Build GRCh38
378332	c.591G>T	p.E197D	Chr.2: 219420107-219420107 on Build GRCh38
1405636	c.710C>T	p.A237V	Chr.2: 219420321-219420321 on Build GRCh38
1016732	c.580C>T	p.L194L	Chr.2: 219420096-219420096 on Build GRCh38
1405635	c.639+1G>A	p.?	Chr.2: 219420156-219420156 on Build GRCh38
3782124	c.680G>A	p.R227H	Chr.2: 219420291-219420291 on Build GRCh38
4557260	c.720G>A	p.K240K	Chr.2: 219420331-219420331 on Build GRCh38
4955146	c.604G>T	p.E202*	Chr.2: 219420120-219420120 on Build GRCh38
1016733	c.635G>A	p.R212Q	Chr.2: 219420151-219420151 on Build GRCh38
5810329	c.725T>A	p.V242E	Chr.2: 219420336-219420336 on Build GRCh38
4553263	c.585G>A	p.Q195Q	Chr.2: 219420101-219420101 on Build GRCh38
6642746	c.709G>A	p.A237T	Chr.2: 219420320-219420320 on Build GRCh38
7364167	c.638C>T	p.A213V	Chr.2: 219420154-219420154 on Build GRCh38
5861841	c.712T>C	p.F238L	Chr.2: 219420323-219420323 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs781590560	Chr.2: 219420150-219420150 on Build GRCh38
rs141013041	Chr.2: 219420216-219420216 on Build GRCh38
rs752276536	Chr.2: 219420308-219420308 on Build GRCh38
rs373556951	Chr.2: 219420212-219420212 on Build GRCh38
rs773271116	Chr.2: 219420109-219420109 on Build GRCh38
rs761978219	Chr.2: 219420287-219420287 on Build GRCh38
rs373062962	Chr.2: 219420139-219420139 on Build GRCh38
rs764389526	Chr.2: 219420138-219420138 on Build GRCh38
rs747805595	Chr.2: 219420260-219420260 on Build GRCh38
rs397516696	Chr.2: 219420098-219420098 on Build GRCh38
rs576601480	Chr.2: 219420144-219420144 on Build GRCh38
rs778625042	Chr.2: 219420182-219420182 on Build GRCh38
rs112632605	Chr.2: 219420094-219420094 on Build GRCh38
rs2632583	Chr.2: 219420219-219420219 on Build GRCh38
rs142145822	Chr.2: 219420301-219420301 on Build GRCh38
rs751789510	Chr.2: 219420217-219420217 on Build GRCh38
rs577691261	Chr.2: 219420189-219420189 on Build GRCh38
rs144908941	Chr.2: 219420254-219420254 on Build GRCh38
rs41272699	Chr.2: 219420154-219420154 on Build GRCh38
rs750812904	Chr.2: 219420241-219420241 on Build GRCh38
rs181712657	Chr.2: 219420235-219420235 on Build GRCh38
rs763036386	Chr.2: 219420137-219420137 on Build GRCh38
rs267607484	Chr.2: 219420250-219420250 on Build GRCh38
rs370905304	Chr.2: 219420205-219420205 on Build GRCh38
rs1030476194	Chr.2: 219420095-219420095 on Build GRCh38
rs748846624	Chr.2: 219420164-219420164 on Build GRCh38
rs762423179	Chr.2: 219420175-219420191 on Build GRCh38
rs765376573	Chr.2: 219420119-219420119 on Build GRCh38
rs375680081	Chr.2: 219420247-219420247 on Build GRCh38
rs771882136	Chr.2: 219420261-219420261 on Build GRCh38
rs367961979	Chr.2: 219420276-219420276 on Build GRCh38
rs778338200	Chr.2: 219420258-219420258 on Build GRCh38
rs764826543	Chr.2: 219420192-219420192 on Build GRCh38
rs876657448	Chr.2: 219420168-219420170 on Build GRCh38
rs760648767	Chr.2: 219420203-219420203 on Build GRCh38
rs767743962	Chr.2: 219420290-219420290 on Build GRCh38
rs377337947	Chr.2: 219420155-219420155 on Build GRCh38
rs768129908	Chr.2: 219420173-219420173 on Build GRCh38
rs771971751	Chr.2: 219420191-219420191 on Build GRCh38
rs111482858	Chr.2: 219420157-219420157 on Build GRCh38
rs745847521	Chr.2: 219420278-219420278 on Build GRCh38
rs370239228	Chr.2: 219420253-219420253 on Build GRCh38
rs267607492	Chr.2: 219420249-219420249 on Build GRCh38
rs113288175	Chr.2: 219420292-219420292 on Build GRCh38
rs918962036	Chr.2: 219420153-219420153 on Build GRCh38
rs762068048	Chr.2: 219420234-219420234 on Build GRCh38
rs773181078	Chr.2: 219420193-219420193 on Build GRCh38
rs2854891	Chr.2: 219420214-219420214 on Build GRCh38
rs374687448	Chr.2: 219420275-219420275 on Build GRCh38
rs113583576	Chr.2: 219420158-219420158 on Build GRCh38
rs886042889	Chr.2: 219420090-219420090 on Build GRCh38
rs75882680	Chr.2: 219420280-219420280 on Build GRCh38
rs760744645	Chr.2: 219420118-219420118 on Build GRCh38
rs758066814	Chr.2: 219420310-219420310 on Build GRCh38
rs764764823	Chr.2: 219420305-219420305 on Build GRCh38
rs868785776	Chr.2: 219420156-219420156 on Build GRCh38
rs727504448	Chr.2: 219420116-219420116 on Build GRCh38
rs1017140299	Chr.2: 219420297-219420297 on Build GRCh38
rs141486420	Chr.2: 219420291-219420291 on Build GRCh38
rs754350026	Chr.2: 219420294-219420294 on Build GRCh38
rs904992772	Chr.2: 219420181-219420181 on Build GRCh38
rs774739275	Chr.2: 219420311-219420311 on Build GRCh38
rs761676074	Chr.2: 219420100-219420100 on Build GRCh38
rs730880289	Chr.2: 219420158-219420159 on Build GRCh38
rs774330779	Chr.2: 219420284-219420284 on Build GRCh38
rs746814065	Chr.2: 219420273-219420273 on Build GRCh38
rs144901249	Chr.2: 219420267-219420267 on Build GRCh38
rs144261171	Chr.2: 219420151-219420151 on Build GRCh38
rs369495436	Chr.2: 219420125-219420125 on Build GRCh38
rs775372664	Chr.2: 219420210-219420210 on Build GRCh38

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