Product Details

Primer Sequences
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Primer Chromosome Location
Chr.19: 38490027-38490288 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
RYR1
Entrez Gene ID
6261
Gene Name
ryanodine receptor 1
Gene Aliases
CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR
UniGene
Hs.466664
Gene Chromosome Location
Chr.19: 38433700-38587564 on Build GRCh38
Transcripts
NM_000540.2 NM_001042723.1 XM_006723317.2 XM_006723319.2 XM_011527205.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6887414 c.5842G>A p.D1948N Chr.19: 38490103-38490103 on Build GRCh38
5045008 c.5924G>A p.S1975N Chr.19: 38490185-38490185 on Build GRCh38
5766696 c.5995C>T p.R1999C Chr.19: 38490256-38490256 on Build GRCh38
4077778 c.5987G>A p.R1996H Chr.19: 38490248-38490248 on Build GRCh38
3938090 c.5988C>T p.R1996R Chr.19: 38490249-38490249 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs866672771 Chr.19: 38490090-38490090 on Build GRCh38
rs145801146 Chr.19: 38490151-38490151 on Build GRCh38
rs193922787 Chr.19: 38490249-38490249 on Build GRCh38
rs748907487 Chr.19: 38490182-38490182 on Build GRCh38
rs770158199 Chr.19: 38490210-38490210 on Build GRCh38
rs777058523 Chr.19: 38490091-38490091 on Build GRCh38
rs757339404 Chr.19: 38490147-38490147 on Build GRCh38
rs751621150 Chr.19: 38490146-38490146 on Build GRCh38
rs760559322 Chr.19: 38490263-38490263 on Build GRCh38
rs904728007 Chr.19: 38490195-38490195 on Build GRCh38
rs372998308 Chr.19: 38490252-38490252 on Build GRCh38
rs377493611 Chr.19: 38490135-38490135 on Build GRCh38
rs750324313 Chr.19: 38490260-38490260 on Build GRCh38
rs141689968 Chr.19: 38490186-38490186 on Build GRCh38
rs193922786 Chr.19: 38490199-38490199 on Build GRCh38
rs763196920 Chr.19: 38490128-38490128 on Build GRCh38
rs568165729 Chr.19: 38490242-38490242 on Build GRCh38
rs771443717 Chr.19: 38490083-38490083 on Build GRCh38
rs746372336 Chr.19: 38490209-38490209 on Build GRCh38
rs1029641002 Chr.19: 38490247-38490247 on Build GRCh38
rs775804652 Chr.19: 38490222-38490222 on Build GRCh38
rs897579944 Chr.19: 38490084-38490084 on Build GRCh38
rs546352424 Chr.19: 38490157-38490157 on Build GRCh38
rs771545581 Chr.19: 38490188-38490188 on Build GRCh38
rs138391613 Chr.19: 38490165-38490165 on Build GRCh38
rs768231298 Chr.19: 38490059-38490059 on Build GRCh38
rs767508472 Chr.19: 38490256-38490256 on Build GRCh38
rs192932788 Chr.19: 38490130-38490130 on Build GRCh38
rs748960512 Chr.19: 38490051-38490051 on Build GRCh38
rs755882870 Chr.19: 38490166-38490166 on Build GRCh38
rs747644094 Chr.19: 38490187-38490187 on Build GRCh38
rs753662931 Chr.19: 38490267-38490267 on Build GRCh38
rs763360938 Chr.19: 38490223-38490223 on Build GRCh38
rs773338805 Chr.19: 38490058-38490058 on Build GRCh38
rs910422120 Chr.19: 38490053-38490053 on Build GRCh38
rs571043780 Chr.19: 38490237-38490237 on Build GRCh38
rs766458733 Chr.19: 38490266-38490266 on Build GRCh38
rs775643457 Chr.19: 38490122-38490122 on Build GRCh38
rs369167120 Chr.19: 38490241-38490241 on Build GRCh38
rs781673519 Chr.19: 38490198-38490198 on Build GRCh38
rs779733902 Chr.19: 38490181-38490181 on Build GRCh38
rs765521639 Chr.19: 38490110-38490110 on Build GRCh38
rs1013204641 Chr.19: 38490164-38490164 on Build GRCh38
rs759938588 Chr.19: 38490109-38490109 on Build GRCh38
rs767487116 Chr.19: 38490152-38490152 on Build GRCh38
rs747700902 Chr.19: 38490070-38490070 on Build GRCh38

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