Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 219418917-219419182 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
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

Cosmic ID Mutation AA Transcript Location
4677118 c.465C>T p.Y155Y Chr.2: 219418927-219418927 on Build GRCh38
3391493 c.523C>T p.R175C Chr.2: 219418985-219418985 on Build GRCh38
6026513 c.578+10C>T p.? Chr.2: 219419050-219419050 on Build GRCh38
1203407 c.479G>A p.R160Q Chr.2: 219418941-219418941 on Build GRCh38
6317785 c.459G>T p.E153D Chr.2: 219418921-219418921 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1014762661 Chr.2: 219418978-219418978 on Build GRCh38
rs754033658 Chr.2: 219419058-219419058 on Build GRCh38
rs907677 Chr.2: 219419104-219419104 on Build GRCh38
rs762561 Chr.2: 219419122-219419122 on Build GRCh38
rs889191100 Chr.2: 219419037-219419037 on Build GRCh38
rs969392028 Chr.2: 219419050-219419050 on Build GRCh38
rs878854473 Chr.2: 219419018-219419018 on Build GRCh38
rs961874998 Chr.2: 219418980-219418980 on Build GRCh38
rs534000139 Chr.2: 219419135-219419135 on Build GRCh38
rs757644636 Chr.2: 219419002-219419002 on Build GRCh38
rs769277716 Chr.2: 219419075-219419075 on Build GRCh38
rs747420535 Chr.2: 219419001-219419001 on Build GRCh38
rs746437365 Chr.2: 219419071-219419071 on Build GRCh38
rs878854472 Chr.2: 219418986-219418986 on Build GRCh38
rs769096434 Chr.2: 219418978-219418979 on Build GRCh38
rs1025323214 Chr.2: 219419028-219419028 on Build GRCh38
rs752944882 Chr.2: 219418979-219418979 on Build GRCh38
rs2854888 Chr.2: 219419158-219419158 on Build GRCh38
rs111548596 Chr.2: 219419051-219419051 on Build GRCh38
rs1050510822 Chr.2: 219419014-219419014 on Build GRCh38
rs958109286 Chr.2: 219419138-219419138 on Build GRCh38
rs886044489 Chr.2: 219419029-219419029 on Build GRCh38
rs538229035 Chr.2: 219418982-219418982 on Build GRCh38
rs139948855 Chr.2: 219419145-219419145 on Build GRCh38
rs1038211323 Chr.2: 219419074-219419074 on Build GRCh38
rs758686466 Chr.2: 219418981-219418981 on Build GRCh38

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