Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50574230-50574487 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
5859720 c.970+1G>A p.? Chr.22: 50574334-50574334 on Build GRCh38
3555809 c.917C>T p.S306F Chr.22: 50574388-50574388 on Build GRCh38
111503 c.889delA p.M297fs*5 Chr.22: 50574416-50574416 on Build GRCh38
4105231 c.925A>C p.M309L Chr.22: 50574380-50574380 on Build GRCh38
4422745 c.888G>A p.V296V Chr.22: 50574417-50574417 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs753087333 Chr.22: 50574356-50574356 on Build GRCh38
rs771088531 Chr.22: 50574305-50574305 on Build GRCh38
rs758591559 Chr.22: 50574462-50574462 on Build GRCh38
rs201769569 Chr.22: 50574361-50574361 on Build GRCh38
rs778951761 Chr.22: 50574456-50574456 on Build GRCh38
rs774279546 Chr.22: 50574318-50574318 on Build GRCh38
rs761650876 Chr.22: 50574342-50574342 on Build GRCh38
rs745885056 Chr.22: 50574375-50574375 on Build GRCh38
rs750327131 Chr.22: 50574319-50574319 on Build GRCh38
rs375539120 Chr.22: 50574419-50574419 on Build GRCh38
rs756433718 Chr.22: 50574360-50574360 on Build GRCh38
rs753246779 Chr.22: 50574441-50574441 on Build GRCh38
rs948684330 Chr.22: 50574394-50574394 on Build GRCh38
rs765881903 Chr.22: 50574416-50574416 on Build GRCh38
rs757511576 Chr.22: 50574450-50574450 on Build GRCh38
rs888033271 Chr.22: 50574253-50574254 on Build GRCh38
rs754082526 Chr.22: 50574444-50574444 on Build GRCh38
rs992685338 Chr.22: 50574358-50574358 on Build GRCh38
rs776580440 Chr.22: 50574334-50574334 on Build GRCh38
rs768643876 Chr.22: 50574325-50574325 on Build GRCh38
rs550144267 Chr.22: 50574260-50574260 on Build GRCh38
rs748065384 Chr.22: 50574384-50574384 on Build GRCh38
rs769680958 Chr.22: 50574387-50574387 on Build GRCh38
rs745973931 Chr.22: 50574457-50574457 on Build GRCh38
rs367668179 Chr.22: 50574259-50574259 on Build GRCh38
rs749579793 Chr.22: 50574367-50574367 on Build GRCh38
rs1009735258 Chr.22: 50574273-50574273 on Build GRCh38
rs200871508 Chr.22: 50574433-50574433 on Build GRCh38
rs765973798 Chr.22: 50574349-50574349 on Build GRCh38
rs768735815 Chr.22: 50574376-50574376 on Build GRCh38
rs371063446 Chr.22: 50574443-50574443 on Build GRCh38
rs925639696 Chr.22: 50574449-50574449 on Build GRCh38
rs779050447 Chr.22: 50574371-50574371 on Build GRCh38
rs765010676 Chr.22: 50574343-50574343 on Build GRCh38
rs2269383 Chr.22: 50574346-50574346 on Build GRCh38
rs762736324 Chr.22: 50574402-50574402 on Build GRCh38
rs770021629 Chr.22: 50574288-50574288 on Build GRCh38
rs768047055 Chr.22: 50574431-50574431 on Build GRCh38
rs144743183 Chr.22: 50574348-50574348 on Build GRCh38
rs776668369 Chr.22: 50574383-50574383 on Build GRCh38
rs772871281 Chr.22: 50574395-50574395 on Build GRCh38
rs76233096 Chr.22: 50574425-50574425 on Build GRCh38
rs1020167345 Chr.22: 50574289-50574289 on Build GRCh38
rs960442580 Chr.22: 50574326-50574326 on Build GRCh38
rs964598540 Chr.22: 50574418-50574418 on Build GRCh38
rs757412731 Chr.22: 50574368-50574368 on Build GRCh38
rs370978706 Chr.22: 50574351-50574351 on Build GRCh38
rs1044974529 Chr.22: 50574261-50574261 on Build GRCh38
rs778804317 Chr.22: 50574355-50574355 on Build GRCh38

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