Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50572130-50572355 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
5960627 c.1452C>G p.L484L Chr.22: 50572209-50572209 on Build GRCh38
3732341 c.1412C>T p.A471V Chr.22: 50572249-50572249 on Build GRCh38
6370084 c.1451T>A p.L484H Chr.22: 50572210-50572210 on Build GRCh38
5578349 c.1433C>T p.A478V Chr.22: 50572228-50572228 on Build GRCh38
3066105 c.1421C>T p.A474V Chr.22: 50572240-50572240 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs745961098 Chr.22: 50572235-50572235 on Build GRCh38
rs756593229 Chr.22: 50572203-50572203 on Build GRCh38
rs776588009 Chr.22: 50572162-50572162 on Build GRCh38
rs1049523382 Chr.22: 50572293-50572293 on Build GRCh38
rs17848464 Chr.22: 50572174-50572174 on Build GRCh38
rs754462367 Chr.22: 50572181-50572181 on Build GRCh38
rs149999532 Chr.22: 50572284-50572284 on Build GRCh38
rs779147264 Chr.22: 50572225-50572225 on Build GRCh38
rs140863538 Chr.22: 50572308-50572308 on Build GRCh38
rs115830405 Chr.22: 50572314-50572314 on Build GRCh38
rs910916065 Chr.22: 50572233-50572233 on Build GRCh38
rs765169905 Chr.22: 50572166-50572166 on Build GRCh38
rs977922492 Chr.22: 50572175-50572175 on Build GRCh38
rs761807968 Chr.22: 50572165-50572165 on Build GRCh38
rs754220555 Chr.22: 50572327-50572327 on Build GRCh38
rs759082970 Chr.22: 50572303-50572303 on Build GRCh38
rs112259265 Chr.22: 50572239-50572239 on Build GRCh38
rs761897805 Chr.22: 50572255-50572255 on Build GRCh38
rs775685871 Chr.22: 50572243-50572243 on Build GRCh38
rs1030807341 Chr.22: 50572177-50572177 on Build GRCh38
rs762754961 Chr.22: 50572283-50572283 on Build GRCh38
rs144280175 Chr.22: 50572304-50572304 on Build GRCh38
rs750227778 Chr.22: 50572172-50572172 on Build GRCh38
rs144606575 Chr.22: 50572180-50572180 on Build GRCh38
rs773148243 Chr.22: 50572278-50572278 on Build GRCh38
rs769853021 Chr.22: 50572265-50572265 on Build GRCh38
rs771071272 Chr.22: 50572224-50572224 on Build GRCh38
rs753244620 Chr.22: 50572202-50572202 on Build GRCh38
rs557610208 Chr.22: 50572270-50572270 on Build GRCh38
rs749585603 Chr.22: 50572219-50572219 on Build GRCh38
rs150817976 Chr.22: 50572207-50572207 on Build GRCh38
rs778192516 Chr.22: 50572323-50572323 on Build GRCh38
rs781580914 Chr.22: 50572196-50572196 on Build GRCh38
rs778174538 Chr.22: 50572214-50572214 on Build GRCh38

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