Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 218275396-218275659 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_015488.4 XM_017003771.1 NM_001321427.1 NM_001321428.1 NM_001321429.1 NM_001321430.1 NM_001321432.1 NM_001321433.1 NM_001321435.1 NM_001321436.1 NM_001321438.1 NM_022152.5 NR_135643.1 XM_011511627.1

Gene Symbol
TMBIM1
Entrez Gene ID
64114
Gene Name
transmembrane BAX inhibitor motif containing 1
Gene Aliases
LFG3, MST100, MSTP100, PP1201, RECS1
UniGene
Hs.591605
Gene Chromosome Location
Chr.2: 218274192-218292577 on Build GRCh38
Transcripts
NM_015488.4 XM_017003771.1 NM_001321427.1 NM_001321428.1 NM_001321429.1 NM_001321430.1 NM_001321432.1 NM_001321433.1 NM_001321435.1 NM_001321436.1 NM_001321438.1 NM_022152.5 NR_135643.1 XM_011511627.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
227711 c.923G>C p.G308A Chr.2: 218275488-218275488 on Build GRCh38
304568 c.929G>A p.R310H Chr.2: 218275482-218275482 on Build GRCh38
4598042 c.827G>A p.R276Q Chr.2: 218275584-218275584 on Build GRCh38
5589157 c.802G>T p.D268Y Chr.2: 218275609-218275609 on Build GRCh38
3757952 c.846C>G p.P282P Chr.2: 218275565-218275565 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs900185550 Chr.2: 218275461-218275461 on Build GRCh38
rs760550492 Chr.2: 218275498-218275499 on Build GRCh38
rs1022380029 Chr.2: 218275586-218275586 on Build GRCh38
rs200810695 Chr.2: 218275534-218275534 on Build GRCh38
rs762204736 Chr.2: 218275463-218275463 on Build GRCh38
rs769454078 Chr.2: 218275542-218275542 on Build GRCh38
rs999545271 Chr.2: 218275618-218275618 on Build GRCh38
rs986958375 Chr.2: 218275431-218275431 on Build GRCh38
rs767298806 Chr.2: 218275447-218275447 on Build GRCh38
rs762590223 Chr.2: 218275454-218275454 on Build GRCh38
rs752481000 Chr.2: 218275485-218275486 on Build GRCh38
rs766550762 Chr.2: 218275483-218275483 on Build GRCh38
rs745698169 Chr.2: 218275538-218275538 on Build GRCh38
rs754073589 Chr.2: 218275576-218275576 on Build GRCh38
rs955509545 Chr.2: 218275417-218275417 on Build GRCh38
rs764689536 Chr.2: 218275457-218275457 on Build GRCh38
rs751447108 Chr.2: 218275585-218275585 on Build GRCh38
rs745668283 Chr.2: 218275609-218275609 on Build GRCh38
rs143173370 Chr.2: 218275482-218275482 on Build GRCh38
rs142976124 Chr.2: 218275547-218275547 on Build GRCh38
rs2292550 Chr.2: 218275565-218275565 on Build GRCh38
rs199711733 Chr.2: 218275478-218275478 on Build GRCh38
rs768237289 Chr.2: 218275637-218275637 on Build GRCh38
rs371106981 Chr.2: 218275632-218275632 on Build GRCh38
rs148573957 Chr.2: 218275561-218275561 on Build GRCh38
rs550448571 Chr.2: 218275479-218275479 on Build GRCh38
rs766610505 Chr.2: 218275571-218275571 on Build GRCh38
rs74675992 Chr.2: 218275436-218275436 on Build GRCh38
rs74826045 Chr.2: 218275559-218275559 on Build GRCh38
rs754982758 Chr.2: 218275583-218275583 on Build GRCh38
rs770725532 Chr.2: 218275447-218275447 on Build GRCh38
rs746952375 Chr.2: 218275516-218275516 on Build GRCh38
rs563258520 Chr.2: 218275433-218275433 on Build GRCh38
rs373791088 Chr.2: 218275595-218275595 on Build GRCh38
rs369057432 Chr.2: 218275452-218275452 on Build GRCh38
rs1031657480 Chr.2: 218275624-218275624 on Build GRCh38
rs755109208 Chr.2: 218275508-218275508 on Build GRCh38
rs376693165 Chr.2: 218275451-218275451 on Build GRCh38
rs148970259 Chr.2: 218275546-218275546 on Build GRCh38
rs377618088 Chr.2: 218275610-218275610 on Build GRCh38
rs781027967 Chr.2: 218275600-218275600 on Build GRCh38
rs748983120 Chr.2: 218275634-218275634 on Build GRCh38
rs903828149 Chr.2: 218275608-218275608 on Build GRCh38
rs777629876 Chr.2: 218275509-218275509 on Build GRCh38
rs149837076 Chr.2: 218275490-218275490 on Build GRCh38
rs11552008 Chr.2: 218275415-218275415 on Build GRCh38
rs762435410 Chr.2: 218275564-218275564 on Build GRCh38
rs781061038 Chr.2: 218275536-218275536 on Build GRCh38
rs752166044 Chr.2: 218275460-218275460 on Build GRCh38

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