Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 218277844-218278357 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

SNP Detail

SNP ID Chromosome Location
rs916677621 Chr.2: 218278249-218278249 on Build GRCh38
rs887578493 Chr.2: 218277921-218277921 on Build GRCh38
rs1048980006 Chr.2: 218277883-218277883 on Build GRCh38
rs200464435 Chr.2: 218277933-218277933 on Build GRCh38
rs988937991 Chr.2: 218278309-218278309 on Build GRCh38
rs3817266 Chr.2: 218277871-218277871 on Build GRCh38
rs750505305 Chr.2: 218277970-218277970 on Build GRCh38
rs182369993 Chr.2: 218278135-218278135 on Build GRCh38
rs771863784 Chr.2: 218277925-218277925 on Build GRCh38
rs150838615 Chr.2: 218277935-218277935 on Build GRCh38
rs142636664 Chr.2: 218277973-218277973 on Build GRCh38
rs373812380 Chr.2: 218278022-218278022 on Build GRCh38
rs770539994 Chr.2: 218277928-218277928 on Build GRCh38
rs529310091 Chr.2: 218278136-218278136 on Build GRCh38
rs759128226 Chr.2: 218277998-218277999 on Build GRCh38
rs368000042 Chr.2: 218278023-218278023 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
rs891501678 Chr.2: 218278037-218278037 on Build GRCh38
rs921561367 Chr.2: 218278062-218278062 on Build GRCh38
rs957679769 Chr.2: 218278272-218278272 on Build GRCh38
rs374696335 Chr.2: 218278044-218278044 on Build GRCh38
rs866283004 Chr.2: 218278219-218278219 on Build GRCh38
rs1016858794 Chr.2: 218278098-218278098 on Build GRCh38
rs770610260 Chr.2: 218278007-218278007 on Build GRCh38
rs751679528 Chr.2: 218277953-218277953 on Build GRCh38
rs189349414 Chr.2: 218278100-218278100 on Build GRCh38
rs111775432 Chr.2: 218278166-218278166 on Build GRCh38
rs1014307992 Chr.2: 218278189-218278189 on Build GRCh38
rs376254222 Chr.2: 218278127-218278127 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
rs569164608 Chr.2: 218278163-218278163 on Build GRCh38
rs1006751657 Chr.2: 218278064-218278064 on Build GRCh38
rs565067717 Chr.2: 218278261-218278261 on Build GRCh38
rs755545373 Chr.2: 218278037-218278039 on Build GRCh38
rs747883939 Chr.2: 218277910-218277910 on Build GRCh38
rs778883470 Chr.2: 218277909-218277909 on Build GRCh38
rs757476592 Chr.2: 218277962-218277962 on Build GRCh38
rs746458528 Chr.2: 218278316-218278316 on Build GRCh38
rs777999104 Chr.2: 218278318-218278319 on Build GRCh38
rs555464367 Chr.2: 218278334-218278334 on Build GRCh38
rs778201867 Chr.2: 218278262-218278262 on Build GRCh38
rs201267475 Chr.2: 218278002-218278002 on Build GRCh38
rs761101588 Chr.2: 218278302-218278302 on Build GRCh38
rs779422495 Chr.2: 218278231-218278231 on Build GRCh38
rs778758987 Chr.2: 218277972-218277972 on Build GRCh38
rs992268785 Chr.2: 218278220-218278220 on Build GRCh38
rs1020371525 Chr.2: 218278310-218278310 on Build GRCh38
rs6707559 Chr.2: 218278050-218278050 on Build GRCh38
rs773947896 Chr.2: 218277944-218277944 on Build GRCh38
rs961050834 Chr.2: 218278179-218278179 on Build GRCh38
rs190420615 Chr.2: 218278178-218278178 on Build GRCh38
rs1024400805 Chr.2: 218278205-218278205 on Build GRCh38
rs146961374 Chr.2: 218278177-218278177 on Build GRCh38
rs112235783 Chr.2: 218278059-218278059 on Build GRCh38
rs13429408 Chr.2: 218278137-218278137 on Build GRCh38
rs776153753 Chr.2: 218277936-218277936 on Build GRCh38
rs935588953 Chr.2: 218278325-218278325 on Build GRCh38
rs776203040 Chr.2: 218278010-218278010 on Build GRCh38
rs758141955 Chr.2: 218277982-218277982 on Build GRCh38
rs34892237 Chr.2: 218278013-218278013 on Build GRCh38
rs905827993 Chr.2: 218278210-218278210 on Build GRCh38
rs764579398 Chr.2: 218277947-218277947 on Build GRCh38
rs768636631 Chr.2: 218277899-218277899 on Build GRCh38
rs748280178 Chr.2: 218278168-218278168 on Build GRCh38
rs182790918 Chr.2: 218278317-218278317 on Build GRCh38
rs771374164 Chr.2: 218277932-218277933 on Build GRCh38
rs373505480 Chr.2: 218277969-218277969 on Build GRCh38
rs145538425 Chr.2: 218277940-218277940 on Build GRCh38
rs772811571 Chr.2: 218277926-218277926 on Build GRCh38

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