Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 74244703-74244944 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
1101577 c.1499G>A p.S500N Chr.8: 74244935-74244935 on Build GRCh38
3748392 c.1717T>C p.S573P Chr.8: 74244717-74244717 on Build GRCh38
3774338 c.1574C>G p.A525G Chr.8: 74244860-74244860 on Build GRCh38
6181540 c.1708G>T p.G570C Chr.8: 74244726-74244726 on Build GRCh38
4528792 c.1564G>A p.E522K Chr.8: 74244870-74244870 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs748343327 Chr.8: 74244897-74244897 on Build GRCh38
rs372014691 Chr.8: 74244756-74244756 on Build GRCh38
rs768878668 Chr.8: 74244747-74244747 on Build GRCh38
rs769689897 Chr.8: 74244734-74244734 on Build GRCh38
rs778719135 Chr.8: 74244803-74244803 on Build GRCh38
rs75299101 Chr.8: 74244858-74244858 on Build GRCh38
rs574443971 Chr.8: 74244773-74244773 on Build GRCh38
rs775579120 Chr.8: 74244743-74244743 on Build GRCh38
rs748133888 Chr.8: 74244728-74244728 on Build GRCh38
rs200169588 Chr.8: 74244841-74244841 on Build GRCh38
rs757031830 Chr.8: 74244801-74244801 on Build GRCh38
rs142421841 Chr.8: 74244830-74244830 on Build GRCh38
rs1003005408 Chr.8: 74244831-74244831 on Build GRCh38
rs887759025 Chr.8: 74244782-74244782 on Build GRCh38
rs559816204 Chr.8: 74244780-74244780 on Build GRCh38
rs368837494 Chr.8: 74244727-74244727 on Build GRCh38
rs777169915 Chr.8: 74244735-74244735 on Build GRCh38
rs376003030 Chr.8: 74244842-74244842 on Build GRCh38
rs766728866 Chr.8: 74244775-74244775 on Build GRCh38
rs140054578 Chr.8: 74244859-74244859 on Build GRCh38
rs776913641 Chr.8: 74244809-74244809 on Build GRCh38
rs745650107 Chr.8: 74244882-74244882 on Build GRCh38
rs769932666 Chr.8: 74244781-74244781 on Build GRCh38
rs181966040 Chr.8: 74244724-74244724 on Build GRCh38
rs757194936 Chr.8: 74244874-74244874 on Build GRCh38
rs368956190 Chr.8: 74244822-74244822 on Build GRCh38
rs752198432 Chr.8: 74244786-74244786 on Build GRCh38
rs184277849 Chr.8: 74244771-74244771 on Build GRCh38
rs16938829 Chr.8: 74244914-74244914 on Build GRCh38
rs139723190 Chr.8: 74244875-74244875 on Build GRCh38
rs755306620 Chr.8: 74244884-74244884 on Build GRCh38
rs749182279 Chr.8: 74244796-74244796 on Build GRCh38
rs760910493 Chr.8: 74244744-74244744 on Build GRCh38
rs776827373 Chr.8: 74244753-74244753 on Build GRCh38
rs529355952 Chr.8: 74244912-74244912 on Build GRCh38
rs201342439 Chr.8: 74244788-74244788 on Build GRCh38
rs373191084 Chr.8: 74244836-74244836 on Build GRCh38
rs368114635 Chr.8: 74244805-74244805 on Build GRCh38
rs371960369 Chr.8: 74244818-74244818 on Build GRCh38
rs752290170 Chr.8: 74244860-74244860 on Build GRCh38
rs754517409 Chr.8: 74244725-74244725 on Build GRCh38
rs189087530 Chr.8: 74244804-74244804 on Build GRCh38
rs943848306 Chr.8: 74244749-74244749 on Build GRCh38
rs773323471 Chr.8: 74244913-74244913 on Build GRCh38
rs753741728 Chr.8: 74244870-74244870 on Build GRCh38
rs755624040 Chr.8: 74244863-74244863 on Build GRCh38
rs900760449 Chr.8: 74244908-74244908 on Build GRCh38
rs564951779 Chr.8: 74244772-74244772 on Build GRCh38
rs770701829 Chr.8: 74244740-74244740 on Build GRCh38
rs779590296 Chr.8: 74244723-74244723 on Build GRCh38
rs201277773 Chr.8: 74244791-74244791 on Build GRCh38
rs145464761 Chr.8: 74244867-74244867 on Build GRCh38
rs781575059 Chr.8: 74244895-74244895 on Build GRCh38
rs751196554 Chr.8: 74244776-74244776 on Build GRCh38
rs749023547 Chr.8: 74244736-74244736 on Build GRCh38
rs985357440 Chr.8: 74244738-74244738 on Build GRCh38

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