Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 218277229-218277726 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
6847611 c.557A>G p.Y186C Chr.2: 218277448-218277448 on Build GRCh38
5491575 c.602T>C p.V201A Chr.2: 218277403-218277403 on Build GRCh38
461165 c.552-1G>C p.? Chr.2: 218277454-218277454 on Build GRCh38
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
rs984137348 Chr.2: 218277423-218277423 on Build GRCh38
rs765136565 Chr.2: 218277684-218277684 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
rs757240364 Chr.2: 218277692-218277692 on Build GRCh38
rs961378080 Chr.2: 218277453-218277453 on Build GRCh38
rs376043409 Chr.2: 218277598-218277598 on Build GRCh38
rs201608914 Chr.2: 218277499-218277499 on Build GRCh38
rs368820137 Chr.2: 218277332-218277332 on Build GRCh38
rs778083787 Chr.2: 218277687-218277687 on Build GRCh38
rs753106184 Chr.2: 218277651-218277651 on Build GRCh38
rs373391185 Chr.2: 218277492-218277492 on Build GRCh38
rs148754183 Chr.2: 218277427-218277427 on Build GRCh38
rs376253889 Chr.2: 218277345-218277345 on Build GRCh38
rs749606830 Chr.2: 218277354-218277354 on Build GRCh38
rs772282650 Chr.2: 218277317-218277317 on Build GRCh38
rs113996885 Chr.2: 218277604-218277604 on Build GRCh38
rs778206398 Chr.2: 218277494-218277494 on Build GRCh38
rs1008726667 Chr.2: 218277309-218277309 on Build GRCh38
rs755384699 Chr.2: 218277357-218277357 on Build GRCh38
rs1015699277 Chr.2: 218277650-218277650 on Build GRCh38
rs961344365 Chr.2: 218277659-218277659 on Build GRCh38
rs776672483 Chr.2: 218277318-218277318 on Build GRCh38
rs779785161 Chr.2: 218277502-218277502 on Build GRCh38
rs762593876 Chr.2: 218277416-218277416 on Build GRCh38
rs1052873586 Chr.2: 218277565-218277565 on Build GRCh38
rs766742640 Chr.2: 218277463-218277463 on Build GRCh38
rs753163287 Chr.2: 218277487-218277487 on Build GRCh38
rs941430989 Chr.2: 218277278-218277278 on Build GRCh38
rs368847642 Chr.2: 218277473-218277473 on Build GRCh38
rs755258967 Chr.2: 218277478-218277478 on Build GRCh38
rs773402215 Chr.2: 218277386-218277386 on Build GRCh38
rs767200181 Chr.2: 218277454-218277454 on Build GRCh38
rs374911039 Chr.2: 218277553-218277553 on Build GRCh38
rs779359784 Chr.2: 218277481-218277481 on Build GRCh38
rs778935452 Chr.2: 218277360-218277360 on Build GRCh38
rs1044985937 Chr.2: 218277536-218277536 on Build GRCh38
rs775554169 Chr.2: 218277413-218277413 on Build GRCh38
rs372334457 Chr.2: 218277333-218277333 on Build GRCh38
rs1031434755 Chr.2: 218277452-218277452 on Build GRCh38
rs531035075 Chr.2: 218277343-218277343 on Build GRCh38
rs552204188 Chr.2: 218277422-218277422 on Build GRCh38
rs1049787034 Chr.2: 218277254-218277254 on Build GRCh38
rs535369697 Chr.2: 218277590-218277590 on Build GRCh38
rs750878182 Chr.2: 218277338-218277338 on Build GRCh38
rs772231371 Chr.2: 218277372-218277372 on Build GRCh38
rs181300023 Chr.2: 218277647-218277647 on Build GRCh38
rs376381706 Chr.2: 218277409-218277409 on Build GRCh38
rs879084352 Chr.2: 218277617-218277617 on Build GRCh38
rs759570651 Chr.2: 218277325-218277325 on Build GRCh38
rs1022593749 Chr.2: 218277361-218277361 on Build GRCh38
rs765313021 Chr.2: 218277330-218277330 on Build GRCh38
rs756685316 Chr.2: 218277336-218277336 on Build GRCh38
rs373610767 Chr.2: 218277689-218277689 on Build GRCh38
rs772868526 Chr.2: 218277612-218277612 on Build GRCh38
rs768285287 Chr.2: 218277592-218277592 on Build GRCh38
rs1028395939 Chr.2: 218277408-218277408 on Build GRCh38
rs1037182582 Chr.2: 218277285-218277285 on Build GRCh38
rs528624758 Chr.2: 218277435-218277435 on Build GRCh38
rs749842610 Chr.2: 218277479-218277480 on Build GRCh38
rs763639182 Chr.2: 218277335-218277335 on Build GRCh38
rs778121605 Chr.2: 218277466-218277467 on Build GRCh38
rs747072009 Chr.2: 218277496-218277496 on Build GRCh38
rs2168703 Chr.2: 218277300-218277300 on Build GRCh38
rs1053230639 Chr.2: 218277255-218277255 on Build GRCh38
rs749932616 Chr.2: 218277456-218277456 on Build GRCh38
rs748414639 Chr.2: 218277369-218277369 on Build GRCh38
rs539653809 Chr.2: 218277648-218277648 on Build GRCh38
rs747123133 Chr.2: 218277393-218277393 on Build GRCh38
rs1035663488 Chr.2: 218277327-218277327 on Build GRCh38
rs765945225 Chr.2: 218277621-218277621 on Build GRCh38
rs770252261 Chr.2: 218277332-218277333 on Build GRCh38
rs760240761 Chr.2: 218277457-218277457 on Build GRCh38
rs754252282 Chr.2: 218277628-218277628 on Build GRCh38
rs1027942836 Chr.2: 218277632-218277632 on Build GRCh38
rs767042796 Chr.2: 218277337-218277337 on Build GRCh38
rs985827718 Chr.2: 218277495-218277495 on Build GRCh38
rs188535559 Chr.2: 218277539-218277539 on Build GRCh38
rs771702461 Chr.2: 218277606-218277606 on Build GRCh38

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