Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50573398-50573655 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
3066112 c.1053C>T p.G351G Chr.22: 50573633-50573633 on Build GRCh38
5859719 c.1049A>G p.E350G Chr.22: 50573637-50573637 on Build GRCh38
726700 c.1144G>A p.A382T Chr.22: 50573542-50573542 on Build GRCh38
5509589 c.1070C>G p.P357R Chr.22: 50573616-50573616 on Build GRCh38
3939696 c.1054G>A p.A352T Chr.22: 50573632-50573632 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs386822689 Chr.22: 50573507-50573508 on Build GRCh38
rs772367347 Chr.22: 50573584-50573584 on Build GRCh38
rs947734932 Chr.22: 50573529-50573529 on Build GRCh38
rs563163300 Chr.22: 50573548-50573548 on Build GRCh38
rs774955656 Chr.22: 50573578-50573578 on Build GRCh38
rs755781796 Chr.22: 50573566-50573566 on Build GRCh38
rs781010037 Chr.22: 50573554-50573554 on Build GRCh38
rs80171933 Chr.22: 50573497-50573497 on Build GRCh38
rs199498809 Chr.22: 50573605-50573605 on Build GRCh38
rs758334496 Chr.22: 50573524-50573524 on Build GRCh38
rs748743693 Chr.22: 50573568-50573568 on Build GRCh38
rs775907354 Chr.22: 50573600-50573600 on Build GRCh38
rs188955785 Chr.22: 50573506-50573506 on Build GRCh38
rs117323981 Chr.22: 50573508-50573508 on Build GRCh38
rs76205318 Chr.22: 50573439-50573439 on Build GRCh38
rs768096958 Chr.22: 50573517-50573518 on Build GRCh38
rs754689979 Chr.22: 50573551-50573551 on Build GRCh38
rs988553189 Chr.22: 50573457-50573457 on Build GRCh38
rs1039772359 Chr.22: 50573476-50573476 on Build GRCh38
rs756346991 Chr.22: 50573565-50573565 on Build GRCh38
rs771563085 Chr.22: 50573493-50573493 on Build GRCh38
rs750679059 Chr.22: 50573520-50573520 on Build GRCh38
rs376918855 Chr.22: 50573471-50573471 on Build GRCh38
rs370086335 Chr.22: 50573480-50573480 on Build GRCh38
rs115743514 Chr.22: 50573504-50573504 on Build GRCh38
rs776703603 Chr.22: 50573629-50573629 on Build GRCh38
rs1019638833 Chr.22: 50573478-50573478 on Build GRCh38
rs771581465 Chr.22: 50573575-50573575 on Build GRCh38
rs764138461 Chr.22: 50573516-50573516 on Build GRCh38
rs760924967 Chr.22: 50573512-50573512 on Build GRCh38
rs925520502 Chr.22: 50573437-50573437 on Build GRCh38
rs1007547028 Chr.22: 50573448-50573448 on Build GRCh38
rs912534599 Chr.22: 50573467-50573467 on Build GRCh38
rs777219757 Chr.22: 50573567-50573567 on Build GRCh38
rs377484724 Chr.22: 50573632-50573632 on Build GRCh38
rs751539236 Chr.22: 50573634-50573634 on Build GRCh38
rs766336831 Chr.22: 50573633-50573633 on Build GRCh38
rs746344053 Chr.22: 50573579-50573579 on Build GRCh38
rs753909121 Chr.22: 50573517-50573517 on Build GRCh38
rs144936442 Chr.22: 50573628-50573628 on Build GRCh38
rs747804826 Chr.22: 50573556-50573556 on Build GRCh38
rs1052220905 Chr.22: 50573603-50573603 on Build GRCh38
rs131760 Chr.22: 50573507-50573507 on Build GRCh38
rs972260166 Chr.22: 50573491-50573491 on Build GRCh38

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