Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50573602-50573869 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
6272045 c.1014C>A p.Y338* Chr.22: 50573672-50573672 on Build GRCh38
6634968 c.1058G>A p.R353H Chr.22: 50573628-50573628 on Build GRCh38
5344183 c.1024C>T p.R342C Chr.22: 50573662-50573662 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs760505798 Chr.22: 50573820-50573820 on Build GRCh38
rs549017663 Chr.22: 50573702-50573702 on Build GRCh38
rs750832334 Chr.22: 50573671-50573671 on Build GRCh38
rs775535337 Chr.22: 50573819-50573819 on Build GRCh38
rs772500354 Chr.22: 50573797-50573797 on Build GRCh38
rs772627134 Chr.22: 50573679-50573679 on Build GRCh38
rs184948992 Chr.22: 50573786-50573786 on Build GRCh38
rs777512750 Chr.22: 50573661-50573661 on Build GRCh38
rs569111354 Chr.22: 50573792-50573792 on Build GRCh38
rs753591945 Chr.22: 50573713-50573713 on Build GRCh38
rs979596435 Chr.22: 50573799-50573799 on Build GRCh38
rs199842559 Chr.22: 50573746-50573746 on Build GRCh38
rs539790665 Chr.22: 50573798-50573798 on Build GRCh38
rs769050796 Chr.22: 50573735-50573735 on Build GRCh38
rs776703603 Chr.22: 50573629-50573629 on Build GRCh38
rs956954503 Chr.22: 50573842-50573842 on Build GRCh38
rs779263993 Chr.22: 50573657-50573657 on Build GRCh38
rs764035245 Chr.22: 50573836-50573836 on Build GRCh38
rs551540999 Chr.22: 50573651-50573651 on Build GRCh38
rs765350347 Chr.22: 50573689-50573689 on Build GRCh38
rs747363545 Chr.22: 50573734-50573734 on Build GRCh38
rs781516690 Chr.22: 50573742-50573742 on Build GRCh38
rs191569295 Chr.22: 50573688-50573688 on Build GRCh38
rs759461743 Chr.22: 50573701-50573701 on Build GRCh38
rs746417069 Chr.22: 50573677-50573677 on Build GRCh38
rs766336831 Chr.22: 50573633-50573633 on Build GRCh38
rs756865565 Chr.22: 50573664-50573664 on Build GRCh38
rs756951722 Chr.22: 50573716-50573716 on Build GRCh38
rs761118390 Chr.22: 50573695-50573696 on Build GRCh38
rs144936442 Chr.22: 50573628-50573628 on Build GRCh38
rs927591928 Chr.22: 50573784-50573784 on Build GRCh38
rs780559998 Chr.22: 50573732-50573732 on Build GRCh38
rs778539822 Chr.22: 50573675-50573675 on Build GRCh38
rs752450827 Chr.22: 50573705-50573705 on Build GRCh38
rs773268195 Chr.22: 50573693-50573693 on Build GRCh38
rs754920844 Chr.22: 50573639-50573639 on Build GRCh38
rs763035506 Chr.22: 50573763-50573763 on Build GRCh38
rs760472405 Chr.22: 50573710-50573710 on Build GRCh38
rs1022707435 Chr.22: 50573752-50573752 on Build GRCh38
rs749880818 Chr.22: 50573731-50573731 on Build GRCh38
rs778629516 Chr.22: 50573718-50573718 on Build GRCh38
rs752535177 Chr.22: 50573642-50573642 on Build GRCh38
rs748427933 Chr.22: 50573745-50573745 on Build GRCh38
rs773288566 Chr.22: 50573758-50573758 on Build GRCh38
rs748307991 Chr.22: 50573683-50573683 on Build GRCh38
rs377484724 Chr.22: 50573632-50573632 on Build GRCh38
rs751539236 Chr.22: 50573634-50573634 on Build GRCh38
rs771927966 Chr.22: 50573765-50573765 on Build GRCh38
rs200798217 Chr.22: 50573684-50573684 on Build GRCh38
rs748835799 Chr.22: 50573662-50573662 on Build GRCh38
rs567674908 Chr.22: 50573711-50573711 on Build GRCh38
rs776795693 Chr.22: 50573687-50573687 on Build GRCh38
rs767275036 Chr.22: 50573640-50573640 on Build GRCh38

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