Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50569139-50569412 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
445186 c.2318G>A p.*773* Chr.22: 50569339-50569339 on Build GRCh38
6031076 c.2313C>A p.Y771* Chr.22: 50569344-50569344 on Build GRCh38
726702 c.2290C>G p.L764V Chr.22: 50569367-50569367 on Build GRCh38
1417168 c.2275C>T p.L759L Chr.22: 50569382-50569382 on Build GRCh38
5368583 c.2305A>G p.K769E Chr.22: 50569352-50569352 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs938776063 Chr.22: 50569383-50569383 on Build GRCh38
rs780745724 Chr.22: 50569380-50569380 on Build GRCh38
rs867957950 Chr.22: 50569233-50569233 on Build GRCh38
rs877294 Chr.22: 50569265-50569265 on Build GRCh38
rs557983319 Chr.22: 50569237-50569237 on Build GRCh38
rs754049281 Chr.22: 50569388-50569388 on Build GRCh38
rs779883282 Chr.22: 50569306-50569306 on Build GRCh38
rs1010480246 Chr.22: 50569220-50569220 on Build GRCh38
rs142616949 Chr.22: 50569375-50569375 on Build GRCh38
rs373286045 Chr.22: 50569253-50569253 on Build GRCh38
rs938708262 Chr.22: 50569199-50569199 on Build GRCh38
rs913036029 Chr.22: 50569205-50569205 on Build GRCh38
rs988664733 Chr.22: 50569180-50569180 on Build GRCh38
rs764431828 Chr.22: 50569385-50569385 on Build GRCh38
rs950702810 Chr.22: 50569329-50569329 on Build GRCh38
rs927384139 Chr.22: 50569381-50569381 on Build GRCh38
rs111633396 Chr.22: 50569207-50569207 on Build GRCh38
rs747935500 Chr.22: 50569315-50569315 on Build GRCh38
rs150762471 Chr.22: 50569343-50569343 on Build GRCh38
rs931654395 Chr.22: 50569266-50569266 on Build GRCh38
rs1024493369 Chr.22: 50569367-50569367 on Build GRCh38
rs372013272 Chr.22: 50569336-50569336 on Build GRCh38
rs1001542408 Chr.22: 50569378-50569378 on Build GRCh38
rs200771908 Chr.22: 50569393-50569393 on Build GRCh38
rs573075571 Chr.22: 50569248-50569248 on Build GRCh38
rs138045495 Chr.22: 50569347-50569347 on Build GRCh38
rs773703154 Chr.22: 50569351-50569351 on Build GRCh38
rs905874506 Chr.22: 50569164-50569164 on Build GRCh38
rs369611984 Chr.22: 50569310-50569310 on Build GRCh38
rs17848473 Chr.22: 50569309-50569309 on Build GRCh38
rs147069509 Chr.22: 50569296-50569296 on Build GRCh38
rs540396410 Chr.22: 50569249-50569249 on Build GRCh38
rs760147190 Chr.22: 50569362-50569362 on Build GRCh38
rs887530122 Chr.22: 50569298-50569298 on Build GRCh38
rs770990451 Chr.22: 50569299-50569299 on Build GRCh38
rs538662424 Chr.22: 50569218-50569218 on Build GRCh38
rs776471332 Chr.22: 50569312-50569312 on Build GRCh38
rs1803460 Chr.22: 50569341-50569341 on Build GRCh38
rs772795236 Chr.22: 50569342-50569342 on Build GRCh38
rs753114539 Chr.22: 50569377-50569377 on Build GRCh38

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