Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 218277467-218277704 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
1482767 c.523A>G p.M175V Chr.2: 218277661-218277661 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs756835711 Chr.2: 218277616-218277616 on Build GRCh38
rs917522596 Chr.2: 218277497-218277497 on Build GRCh38
rs753584109 Chr.2: 218277566-218277566 on Build GRCh38
rs925716553 Chr.2: 218277552-218277552 on Build GRCh38
rs535369697 Chr.2: 218277590-218277590 on Build GRCh38
rs376043409 Chr.2: 218277598-218277598 on Build GRCh38
rs181300023 Chr.2: 218277647-218277647 on Build GRCh38
rs879084352 Chr.2: 218277617-218277617 on Build GRCh38
rs201608914 Chr.2: 218277499-218277499 on Build GRCh38
rs753106184 Chr.2: 218277651-218277651 on Build GRCh38
rs373391185 Chr.2: 218277492-218277492 on Build GRCh38
rs772868526 Chr.2: 218277612-218277612 on Build GRCh38
rs768285287 Chr.2: 218277592-218277592 on Build GRCh38
rs113996885 Chr.2: 218277604-218277604 on Build GRCh38
rs778206398 Chr.2: 218277494-218277494 on Build GRCh38
rs1015699277 Chr.2: 218277650-218277650 on Build GRCh38
rs961344365 Chr.2: 218277659-218277659 on Build GRCh38
rs747072009 Chr.2: 218277496-218277496 on Build GRCh38
rs779785161 Chr.2: 218277502-218277502 on Build GRCh38
rs1052873586 Chr.2: 218277565-218277565 on Build GRCh38
rs539653809 Chr.2: 218277648-218277648 on Build GRCh38
rs765945225 Chr.2: 218277621-218277621 on Build GRCh38
rs1027942836 Chr.2: 218277632-218277632 on Build GRCh38
rs754252282 Chr.2: 218277628-218277628 on Build GRCh38
rs985827718 Chr.2: 218277495-218277495 on Build GRCh38
rs374911039 Chr.2: 218277553-218277553 on Build GRCh38
rs188535559 Chr.2: 218277539-218277539 on Build GRCh38
rs771702461 Chr.2: 218277606-218277606 on Build GRCh38
rs1044985937 Chr.2: 218277536-218277536 on Build GRCh38

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