Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50569355-50569626 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
419489 c.2236A>T p.N746Y Chr.22: 50569421-50569421 on Build GRCh38
5772243 c.2199C>T p.F733F Chr.22: 50569612-50569612 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
5366453 c.2244G>T p.Q748H Chr.22: 50569413-50569413 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
rs777673630 Chr.22: 50569576-50569576 on Build GRCh38
rs754049281 Chr.22: 50569388-50569388 on Build GRCh38
rs773977705 Chr.22: 50569445-50569445 on Build GRCh38
rs368899928 Chr.22: 50569397-50569397 on Build GRCh38
rs778370877 Chr.22: 50569586-50569586 on Build GRCh38
rs17848472 Chr.22: 50569419-50569419 on Build GRCh38
rs754127512 Chr.22: 50569533-50569533 on Build GRCh38
rs764431828 Chr.22: 50569385-50569385 on Build GRCh38
rs146709052 Chr.22: 50569558-50569558 on Build GRCh38
rs374511828 Chr.22: 50569597-50569597 on Build GRCh38
rs770468467 Chr.22: 50569444-50569444 on Build GRCh38
rs549142734 Chr.22: 50569515-50569515 on Build GRCh38
rs770622031 Chr.22: 50569578-50569578 on Build GRCh38
rs927384139 Chr.22: 50569381-50569381 on Build GRCh38
rs528011504 Chr.22: 50569437-50569437 on Build GRCh38
rs748039764 Chr.22: 50569568-50569568 on Build GRCh38
rs377725349 Chr.22: 50569463-50569463 on Build GRCh38
rs768151366 Chr.22: 50569458-50569458 on Build GRCh38
rs756014836 Chr.22: 50569571-50569571 on Build GRCh38
rs764589403 Chr.22: 50569467-50569467 on Build GRCh38
rs200771908 Chr.22: 50569393-50569393 on Build GRCh38
rs771665203 Chr.22: 50569594-50569594 on Build GRCh38
rs781131135 Chr.22: 50569561-50569561 on Build GRCh38
rs550207536 Chr.22: 50569577-50569577 on Build GRCh38
rs765377439 Chr.22: 50569537-50569537 on Build GRCh38
rs1048723083 Chr.22: 50569557-50569557 on Build GRCh38
rs931679015 Chr.22: 50569548-50569548 on Build GRCh38
rs779095044 Chr.22: 50569401-50569401 on Build GRCh38
rs769531437 Chr.22: 50569423-50569423 on Build GRCh38
rs745927071 Chr.22: 50569411-50569411 on Build GRCh38
rs201978200 Chr.22: 50569418-50569418 on Build GRCh38
rs745527087 Chr.22: 50569492-50569492 on Build GRCh38
rs375316854 Chr.22: 50569412-50569412 on Build GRCh38
rs757386433 Chr.22: 50569394-50569394 on Build GRCh38
rs772884833 Chr.22: 50569433-50569433 on Build GRCh38
rs1036046557 Chr.22: 50569583-50569583 on Build GRCh38
rs758902680 Chr.22: 50569455-50569455 on Build GRCh38
rs200993842 Chr.22: 50569560-50569560 on Build GRCh38
rs745404814 Chr.22: 50569591-50569591 on Build GRCh38

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