Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 74245083-74245310 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
JPH1
Entrez Gene ID
56704
Gene Name
junctophilin 1
Gene Aliases
CMT2K, JP-1, JP1
UniGene
Hs.657367
Gene Chromosome Location
Chr.8: 74234700-74321545 on Build GRCh38
Transcripts
NM_001317830.1 NM_020647.3 XM_005251274.3 XM_005251275.4

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1700274 c.1285C>T p.Q429* Chr.8: 74245149-74245149 on Build GRCh38
1101578 c.1269C>T p.Y423Y Chr.8: 74245165-74245165 on Build GRCh38
7261843 c.1259-7delT p.? Chr.8: 74245182-74245182 on Build GRCh38
6572602 c.1259-6G>T p.? Chr.8: 74245181-74245181 on Build GRCh38
5728823 c.1326A>G p.V442V Chr.8: 74245108-74245108 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs778071311 Chr.8: 74245107-74245107 on Build GRCh38
rs76335013 Chr.8: 74245112-74245112 on Build GRCh38
rs751809065 Chr.8: 74245190-74245192 on Build GRCh38
rs776348394 Chr.8: 74245179-74245179 on Build GRCh38
rs758417616 Chr.8: 74245188-74245192 on Build GRCh38
rs766407466 Chr.8: 74245207-74245207 on Build GRCh38
rs754110983 Chr.8: 74245226-74245226 on Build GRCh38
rs763826813 Chr.8: 74245180-74245181 on Build GRCh38
rs141649920 Chr.8: 74245165-74245165 on Build GRCh38
rs73686051 Chr.8: 74245192-74245192 on Build GRCh38
rs759381449 Chr.8: 74245215-74245215 on Build GRCh38
rs199709521 Chr.8: 74245180-74245180 on Build GRCh38
rs200127011 Chr.8: 74245208-74245208 on Build GRCh38
rs375950707 Chr.8: 74245139-74245139 on Build GRCh38
rs771640583 Chr.8: 74245206-74245206 on Build GRCh38
rs746422896 Chr.8: 74245142-74245142 on Build GRCh38
rs756349459 Chr.8: 74245106-74245106 on Build GRCh38
rs148006340 Chr.8: 74245164-74245164 on Build GRCh38
rs757388705 Chr.8: 74245116-74245116 on Build GRCh38
rs891942844 Chr.8: 74245153-74245153 on Build GRCh38
rs145346566 Chr.8: 74245148-74245148 on Build GRCh38
rs267601991 Chr.8: 74245122-74245122 on Build GRCh38
rs772820852 Chr.8: 74245199-74245199 on Build GRCh38
rs766272018 Chr.8: 74245186-74245192 on Build GRCh38
rs777900168 Chr.8: 74245189-74245192 on Build GRCh38
rs774873466 Chr.8: 74245228-74245228 on Build GRCh38
rs757565663 Chr.8: 74245191-74245192 on Build GRCh38
rs775477828 Chr.8: 74245120-74245120 on Build GRCh38
rs767178974 Chr.8: 74245225-74245225 on Build GRCh38
rs762436936 Chr.8: 74245157-74245160 on Build GRCh38
rs767453887 Chr.8: 74245182-74245182 on Build GRCh38
rs781512783 Chr.8: 74245192-74245192 on Build GRCh38
rs752821171 Chr.8: 74245185-74245186 on Build GRCh38
rs1018215404 Chr.8: 74245275-74245275 on Build GRCh38
rs746255983 Chr.8: 74245192-74245193 on Build GRCh38
rs190863075 Chr.8: 74245255-74245255 on Build GRCh38
rs148651924 Chr.8: 74245181-74245182 on Build GRCh38

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