Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 218272463-218272694 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
PNKD
Entrez Gene ID
25953
Gene Name
paroxysmal nonkinesigenic dyskinesia
Gene Aliases
BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR1, PDC, PKND1, TAHCCP2
UniGene
Hs.98475
Gene Chromosome Location
Chr.2: 218270392-218346793 on Build GRCh38
Transcripts
NM_001077399.2 NM_015488.4 XM_017003771.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3838571 c.237G>T p.W79C Chr.2: 218272570-218272570 on Build GRCh38
7272778 c.290T>C p.V97A Chr.2: 218272623-218272623 on Build GRCh38
6385878 c.302G>A p.R101H Chr.2: 218272635-218272635 on Build GRCh38
3043332 c.329A>G p.N110S Chr.2: 218272662-218272662 on Build GRCh38
7112297 c.243C>T p.I81I Chr.2: 218272576-218272576 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs376137172 Chr.2: 218272566-218272566 on Build GRCh38
rs754296379 Chr.2: 218272593-218272593 on Build GRCh38
rs1032734999 Chr.2: 218272598-218272598 on Build GRCh38
rs201563594 Chr.2: 218272577-218272577 on Build GRCh38
rs563363832 Chr.2: 218272556-218272556 on Build GRCh38
rs746004925 Chr.2: 218272645-218272645 on Build GRCh38
rs537526227 Chr.2: 218272673-218272673 on Build GRCh38
rs768442818 Chr.2: 218272652-218272652 on Build GRCh38
rs200354335 Chr.2: 218272629-218272629 on Build GRCh38
rs368057258 Chr.2: 218272661-218272661 on Build GRCh38
rs748457296 Chr.2: 218272616-218272616 on Build GRCh38
rs776935033 Chr.2: 218272536-218272537 on Build GRCh38
rs549620803 Chr.2: 218272487-218272487 on Build GRCh38
rs760344888 Chr.2: 218272664-218272664 on Build GRCh38
rs779168831 Chr.2: 218272519-218272519 on Build GRCh38
rs755558435 Chr.2: 218272585-218272585 on Build GRCh38
rs773991347 Chr.2: 218272571-218272571 on Build GRCh38
rs772154569 Chr.2: 218272529-218272529 on Build GRCh38
rs1010769647 Chr.2: 218272665-218272665 on Build GRCh38
rs748595284 Chr.2: 218272523-218272523 on Build GRCh38
rs201798895 Chr.2: 218272617-218272617 on Build GRCh38
rs748528413 Chr.2: 218272570-218272576 on Build GRCh38
rs761460268 Chr.2: 218272653-218272653 on Build GRCh38
rs373636523 Chr.2: 218272512-218272512 on Build GRCh38
rs988131059 Chr.2: 218272641-218272641 on Build GRCh38
rs1013404932 Chr.2: 218272518-218272518 on Build GRCh38
rs771146246 Chr.2: 218272565-218272565 on Build GRCh38
rs755420307 Chr.2: 218272595-218272595 on Build GRCh38
rs374336773 Chr.2: 218272558-218272558 on Build GRCh38
rs747237517 Chr.2: 218272627-218272627 on Build GRCh38
rs750094147 Chr.2: 218272582-218272582 on Build GRCh38
rs765907431 Chr.2: 218272592-218272592 on Build GRCh38
rs767068612 Chr.2: 218272579-218272579 on Build GRCh38
rs767306596 Chr.2: 218272655-218272655 on Build GRCh38
rs184617096 Chr.2: 218272567-218272567 on Build GRCh38
rs567480575 Chr.2: 218272636-218272636 on Build GRCh38
rs199646553 Chr.2: 218272667-218272667 on Build GRCh38
rs779516096 Chr.2: 218272601-218272601 on Build GRCh38
rs201303528 Chr.2: 218272618-218272618 on Build GRCh38
rs370894207 Chr.2: 218272548-218272548 on Build GRCh38
rs771092959 Chr.2: 218272633-218272633 on Build GRCh38
rs753316538 Chr.2: 218272668-218272668 on Build GRCh38

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