Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 218270425-218270686 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
6430025 c.19G>T p.A7S Chr.2: 218270554-218270554 on Build GRCh38
6430026 c.19G>T p.A7S Chr.2: 218270554-218270554 on Build GRCh38
7304812 c.47G>T p.R16I Chr.2: 218270582-218270582 on Build GRCh38
1287269 c.37_38insG p.A15fs*17 Chr.2: 218270572-218270573 on Build GRCh38
7304811 c.47G>T p.R16I Chr.2: 218270582-218270582 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs932548467 Chr.2: 218270633-218270633 on Build GRCh38
rs745868117 Chr.2: 218270587-218270588 on Build GRCh38
rs199712607 Chr.2: 218270646-218270646 on Build GRCh38
rs772861629 Chr.2: 218270497-218270497 on Build GRCh38
rs771466269 Chr.2: 218270521-218270521 on Build GRCh38
rs978870286 Chr.2: 218270519-218270519 on Build GRCh38
rs964681626 Chr.2: 218270614-218270614 on Build GRCh38
rs145266923 Chr.2: 218270543-218270544 on Build GRCh38
rs751631915 Chr.2: 218270543-218270543 on Build GRCh38
rs756065510 Chr.2: 218270541-218270542 on Build GRCh38
rs121434512 Chr.2: 218270555-218270555 on Build GRCh38
rs886055619 Chr.2: 218270572-218270572 on Build GRCh38
rs934430255 Chr.2: 218270581-218270581 on Build GRCh38
rs887076025 Chr.2: 218270467-218270467 on Build GRCh38
rs777330210 Chr.2: 218270599-218270599 on Build GRCh38
rs752570447 Chr.2: 218270518-218270519 on Build GRCh38
rs915540827 Chr.2: 218270511-218270511 on Build GRCh38
rs121434511 Chr.2: 218270561-218270561 on Build GRCh38
rs777779692 Chr.2: 218270572-218270573 on Build GRCh38
rs575367060 Chr.2: 218270626-218270626 on Build GRCh38
rs961797624 Chr.2: 218270466-218270467 on Build GRCh38
rs901028645 Chr.2: 218270602-218270602 on Build GRCh38
rs778883254 Chr.2: 218270570-218270570 on Build GRCh38
rs991087814 Chr.2: 218270474-218270474 on Build GRCh38
rs188010620 Chr.2: 218270616-218270616 on Build GRCh38
rs765614612 Chr.2: 218270535-218270535 on Build GRCh38
rs777046045 Chr.2: 218270529-218270529 on Build GRCh38
rs1049637370 Chr.2: 218270638-218270638 on Build GRCh38
rs955860203 Chr.2: 218270577-218270577 on Build GRCh38
rs568140659 Chr.2: 218270538-218270538 on Build GRCh38
rs764107923 Chr.2: 218270540-218270540 on Build GRCh38
rs886055618 Chr.2: 218270457-218270457 on Build GRCh38
rs866348863 Chr.2: 218270542-218270542 on Build GRCh38
rs867533677 Chr.2: 218270591-218270591 on Build GRCh38
rs534828924 Chr.2: 218270482-218270482 on Build GRCh38
rs775653461 Chr.2: 218270537-218270537 on Build GRCh38
rs200278381 Chr.2: 218270622-218270622 on Build GRCh38
rs978542223 Chr.2: 218270564-218270564 on Build GRCh38
rs930484311 Chr.2: 218270664-218270664 on Build GRCh38
rs974978157 Chr.2: 218270618-218270618 on Build GRCh38
rs1015669075 Chr.2: 218270457-218270457 on Build GRCh38
rs987174979 Chr.2: 218270583-218270583 on Build GRCh38
rs878855015 Chr.2: 218270600-218270600 on Build GRCh38
rs570619432 Chr.2: 218270471-218270471 on Build GRCh38
rs982256616 Chr.2: 218270466-218270466 on Build GRCh38
rs552943410 Chr.2: 218270531-218270531 on Build GRCh38
rs371342116 Chr.2: 218270559-218270559 on Build GRCh38
rs1004219663 Chr.2: 218270477-218270477 on Build GRCh38
rs1023163176 Chr.2: 218270551-218270551 on Build GRCh38
rs758101708 Chr.2: 218270596-218270596 on Build GRCh38
rs747754197 Chr.2: 218270571-218270571 on Build GRCh38
rs1031435484 Chr.2: 218270572-218270572 on Build GRCh38
rs746558436 Chr.2: 218270518-218270518 on Build GRCh38
rs754755605 Chr.2: 218270569-218270569 on Build GRCh38
rs757350092 Chr.2: 218270558-218270558 on Build GRCh38
rs746524295 Chr.2: 218270617-218270617 on Build GRCh38

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