Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50570230-50570483 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
CHKB-CPT1B
Entrez Gene ID
386593
Gene Name
CHKB-CPT1B readthrough (NMD candidate)
Gene Aliases
CHKL-CPT1B
UniGene
Hs.439777
Gene Chromosome Location
Chr.22: 50568861-50582999 on Build GRCh38
Transcripts
NR_027928.2 NM_001145134.1 NM_001145135.1 NM_001145137.1 NM_004377.3 NM_152245.2 NM_152246.2

Gene Symbol
CPT1B
Entrez Gene ID
1375
Gene Name
carnitine palmitoyltransferase 1B
Gene Aliases
CPT1-M, CPT1M, CPTI, CPTI-M, M-CPT1, MCCPT1, MCPT1
UniGene
Hs.439777
Gene Chromosome Location
Chr.22: 50568861-50578667 on Build GRCh38
Transcripts
NR_027928.2 NM_001145134.1 NM_001145135.1 NM_001145137.1 NM_004377.3 NM_152245.2 NM_152246.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1751951 c.2098G>T p.E700* Chr.22: 50570337-50570337 on Build GRCh38
445187 c.2122G>A p.A708T Chr.22: 50570313-50570313 on Build GRCh38
1130396 c.2055C>T p.S685S Chr.22: 50570380-50570380 on Build GRCh38
39987 c.2139C>T p.G713G Chr.22: 50570296-50570296 on Build GRCh38
3555805 c.2075C>T p.S692F Chr.22: 50570360-50570360 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs750252067 Chr.22: 50570434-50570434 on Build GRCh38
rs889196289 Chr.22: 50570385-50570385 on Build GRCh38
rs531926033 Chr.22: 50570360-50570360 on Build GRCh38
rs937046825 Chr.22: 50570331-50570331 on Build GRCh38
rs770016121 Chr.22: 50570252-50570252 on Build GRCh38
rs771154732 Chr.22: 50570388-50570388 on Build GRCh38
rs559899409 Chr.22: 50570463-50570463 on Build GRCh38
rs754399632 Chr.22: 50570352-50570352 on Build GRCh38
rs773624532 Chr.22: 50570383-50570383 on Build GRCh38
rs367724167 Chr.22: 50570295-50570295 on Build GRCh38
rs367875193 Chr.22: 50570274-50570274 on Build GRCh38
rs200495991 Chr.22: 50570387-50570387 on Build GRCh38
rs561217503 Chr.22: 50570314-50570314 on Build GRCh38
rs767532801 Chr.22: 50570404-50570404 on Build GRCh38
rs775615221 Chr.22: 50570420-50570420 on Build GRCh38
rs754006051 Chr.22: 50570324-50570335 on Build GRCh38
rs770930460 Chr.22: 50570349-50570349 on Build GRCh38
rs148525939 Chr.22: 50570344-50570344 on Build GRCh38
rs1037432127 Chr.22: 50570318-50570318 on Build GRCh38
rs115627150 Chr.22: 50570464-50570464 on Build GRCh38
rs779790087 Chr.22: 50570343-50570343 on Build GRCh38
rs895767490 Chr.22: 50570364-50570364 on Build GRCh38
rs547616597 Chr.22: 50570449-50570449 on Build GRCh38
rs765212440 Chr.22: 50570426-50570426 on Build GRCh38
rs898844790 Chr.22: 50570324-50570324 on Build GRCh38
rs758214076 Chr.22: 50570438-50570438 on Build GRCh38
rs759641884 Chr.22: 50570399-50570399 on Build GRCh38
rs201037998 Chr.22: 50570302-50570302 on Build GRCh38
rs2073605 Chr.22: 50570421-50570421 on Build GRCh38
rs776707163 Chr.22: 50570393-50570393 on Build GRCh38
rs780262503 Chr.22: 50570267-50570268 on Build GRCh38
rs770313882 Chr.22: 50570371-50570371 on Build GRCh38
rs373840797 Chr.22: 50570276-50570276 on Build GRCh38
rs748104619 Chr.22: 50570266-50570266 on Build GRCh38
rs751641817 Chr.22: 50570300-50570300 on Build GRCh38
rs933303732 Chr.22: 50570351-50570351 on Build GRCh38
rs757184617 Chr.22: 50570313-50570313 on Build GRCh38
rs571663487 Chr.22: 50570258-50570258 on Build GRCh38
rs750225868 Chr.22: 50570322-50570322 on Build GRCh38
rs201695087 Chr.22: 50570398-50570398 on Build GRCh38
rs764112293 Chr.22: 50570304-50570304 on Build GRCh38
rs753676603 Chr.22: 50570309-50570309 on Build GRCh38
rs758187699 Chr.22: 50570326-50570326 on Build GRCh38
rs559683796 Chr.22: 50570452-50570452 on Build GRCh38
rs748645038 Chr.22: 50570368-50570368 on Build GRCh38

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