Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50569569-50569802 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
5772243 c.2199C>T p.F733F Chr.22: 50569612-50569612 on Build GRCh38
6634967 c.2157C>T p.G719G Chr.22: 50569654-50569654 on Build GRCh38
6876372 c.2169C>T p.S723S Chr.22: 50569642-50569642 on Build GRCh38
1327167 c.2176A>G p.I726V Chr.22: 50569635-50569635 on Build GRCh38
1035521 c.2193G>A p.T731T Chr.22: 50569618-50569618 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs565026078 Chr.22: 50569652-50569652 on Build GRCh38
rs766486998 Chr.22: 50569651-50569651 on Build GRCh38
rs942949001 Chr.22: 50569754-50569754 on Build GRCh38
rs12160714 Chr.22: 50569692-50569692 on Build GRCh38
rs777503593 Chr.22: 50569685-50569685 on Build GRCh38
rs771824480 Chr.22: 50569698-50569698 on Build GRCh38
rs199944176 Chr.22: 50569616-50569616 on Build GRCh38
rs756102769 Chr.22: 50569669-50569669 on Build GRCh38
rs138944919 Chr.22: 50569712-50569712 on Build GRCh38
rs763053353 Chr.22: 50569646-50569646 on Build GRCh38
rs144698481 Chr.22: 50569630-50569630 on Build GRCh38
rs756951913 Chr.22: 50569693-50569693 on Build GRCh38
rs374511828 Chr.22: 50569597-50569597 on Build GRCh38
rs965904059 Chr.22: 50569637-50569637 on Build GRCh38
rs940343031 Chr.22: 50569747-50569747 on Build GRCh38
rs139996419 Chr.22: 50569619-50569619 on Build GRCh38
rs769295620 Chr.22: 50569714-50569714 on Build GRCh38
rs917657743 Chr.22: 50569769-50569769 on Build GRCh38
rs1020370190 Chr.22: 50569633-50569633 on Build GRCh38
rs377289863 Chr.22: 50569627-50569627 on Build GRCh38
rs571652256 Chr.22: 50569609-50569609 on Build GRCh38
rs376435607 Chr.22: 50569715-50569715 on Build GRCh38
rs767113205 Chr.22: 50569606-50569606 on Build GRCh38
rs374665945 Chr.22: 50569694-50569694 on Build GRCh38
rs12157548 Chr.22: 50569706-50569706 on Build GRCh38
rs771665203 Chr.22: 50569594-50569594 on Build GRCh38
rs114814733 Chr.22: 50569626-50569626 on Build GRCh38
rs971815564 Chr.22: 50569763-50569763 on Build GRCh38
rs901304205 Chr.22: 50569770-50569770 on Build GRCh38
rs555188913 Chr.22: 50569695-50569695 on Build GRCh38
rs756085863 Chr.22: 50569735-50569735 on Build GRCh38
rs769269133 Chr.22: 50569618-50569618 on Build GRCh38
rs749259018 Chr.22: 50569606-50569606 on Build GRCh38
rs975908977 Chr.22: 50569641-50569641 on Build GRCh38
rs370023022 Chr.22: 50569624-50569624 on Build GRCh38
rs751617067 Chr.22: 50569665-50569665 on Build GRCh38
rs745404814 Chr.22: 50569591-50569591 on Build GRCh38

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