Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 218277534-218278037 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
1267948 c.478C>T p.R160C Chr.2: 218277970-218277970 on Build GRCh38
7262849 c.475C>T p.R159C Chr.2: 218277973-218277973 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
rs1040052056 Chr.2: 218277829-218277829 on Build GRCh38
rs765136565 Chr.2: 218277684-218277684 on Build GRCh38
rs879719402 Chr.2: 218277768-218277769 on Build GRCh38
rs753584109 Chr.2: 218277566-218277566 on Build GRCh38
rs757240364 Chr.2: 218277692-218277692 on Build GRCh38
rs887578493 Chr.2: 218277921-218277921 on Build GRCh38
rs376043409 Chr.2: 218277598-218277598 on Build GRCh38
rs1029502742 Chr.2: 218277835-218277835 on Build GRCh38
rs778083787 Chr.2: 218277687-218277687 on Build GRCh38
rs879119408 Chr.2: 218277760-218277760 on Build GRCh38
rs753106184 Chr.2: 218277651-218277651 on Build GRCh38
rs1012501774 Chr.2: 218277716-218277716 on Build GRCh38
rs1048980006 Chr.2: 218277883-218277883 on Build GRCh38
rs752884005 Chr.2: 218277829-218277831 on Build GRCh38
rs200464435 Chr.2: 218277933-218277933 on Build GRCh38
rs917491489 Chr.2: 218277745-218277745 on Build GRCh38
rs781350966 Chr.2: 218277715-218277715 on Build GRCh38
rs3817266 Chr.2: 218277871-218277871 on Build GRCh38
rs113996885 Chr.2: 218277604-218277604 on Build GRCh38
rs558025244 Chr.2: 218277726-218277726 on Build GRCh38
rs750505305 Chr.2: 218277970-218277970 on Build GRCh38
rs771863784 Chr.2: 218277925-218277925 on Build GRCh38
rs1015699277 Chr.2: 218277650-218277650 on Build GRCh38
rs150838615 Chr.2: 218277935-218277935 on Build GRCh38
rs961344365 Chr.2: 218277659-218277659 on Build GRCh38
rs142636664 Chr.2: 218277973-218277973 on Build GRCh38
rs970748667 Chr.2: 218277767-218277767 on Build GRCh38
rs770539994 Chr.2: 218277928-218277928 on Build GRCh38
rs1052873586 Chr.2: 218277565-218277565 on Build GRCh38
rs759128226 Chr.2: 218277998-218277999 on Build GRCh38
rs370101743 Chr.2: 218278015-218278015 on Build GRCh38
rs776096607 Chr.2: 218278016-218278016 on Build GRCh38
rs375623883 Chr.2: 218277999-218277999 on Build GRCh38
rs1022562652 Chr.2: 218277761-218277761 on Build GRCh38
rs1052782219 Chr.2: 218277816-218277816 on Build GRCh38
rs374911039 Chr.2: 218277553-218277553 on Build GRCh38
rs936188472 Chr.2: 218277813-218277813 on Build GRCh38
rs770610260 Chr.2: 218278007-218278007 on Build GRCh38
rs751679528 Chr.2: 218277953-218277953 on Build GRCh38
rs745325046 Chr.2: 218278013-218278013 on Build GRCh38
rs962684691 Chr.2: 218277898-218277899 on Build GRCh38
rs745981797 Chr.2: 218277898-218277898 on Build GRCh38
rs535369697 Chr.2: 218277590-218277590 on Build GRCh38
rs181300023 Chr.2: 218277647-218277647 on Build GRCh38
rs879084352 Chr.2: 218277617-218277617 on Build GRCh38
rs757476592 Chr.2: 218277962-218277962 on Build GRCh38
rs778883470 Chr.2: 218277909-218277909 on Build GRCh38
rs747883939 Chr.2: 218277910-218277910 on Build GRCh38
rs2271543 Chr.2: 218277768-218277768 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
rs2168704 Chr.2: 218277769-218277769 on Build GRCh38
rs201267475 Chr.2: 218278002-218278002 on Build GRCh38
rs778758987 Chr.2: 218277972-218277972 on Build GRCh38
rs112766419 Chr.2: 218277819-218277819 on Build GRCh38
rs185887706 Chr.2: 218277823-218277823 on Build GRCh38
rs773947896 Chr.2: 218277944-218277944 on Build GRCh38
rs954077266 Chr.2: 218277865-218277865 on Build GRCh38
rs539653809 Chr.2: 218277648-218277648 on Build GRCh38
rs765945225 Chr.2: 218277621-218277621 on Build GRCh38
rs776153753 Chr.2: 218277936-218277936 on Build GRCh38
rs776203040 Chr.2: 218278010-218278010 on Build GRCh38
rs758141955 Chr.2: 218277982-218277982 on Build GRCh38
rs1027942836 Chr.2: 218277632-218277632 on Build GRCh38
rs754252282 Chr.2: 218277628-218277628 on Build GRCh38
rs34892237 Chr.2: 218278013-218278013 on Build GRCh38
rs573599209 Chr.2: 218277830-218277830 on Build GRCh38
rs764579398 Chr.2: 218277947-218277947 on Build GRCh38
rs768636631 Chr.2: 218277899-218277899 on Build GRCh38
rs771374164 Chr.2: 218277932-218277933 on Build GRCh38
rs771702461 Chr.2: 218277606-218277606 on Build GRCh38
rs747123384 Chr.2: 218277800-218277800 on Build GRCh38
rs373505480 Chr.2: 218277969-218277969 on Build GRCh38
rs900425102 Chr.2: 218277853-218277853 on Build GRCh38
rs145538425 Chr.2: 218277940-218277940 on Build GRCh38
rs772811571 Chr.2: 218277926-218277926 on Build GRCh38

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