Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50571952-50572199 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
1417172 c.1547C>T p.T516I Chr.22: 50572034-50572034 on Build GRCh38
1035525 c.1549C>T p.R517W Chr.22: 50572032-50572032 on Build GRCh38
6634965 c.1504G>A p.G502R Chr.22: 50572077-50572077 on Build GRCh38
5684809 c.1469G>A p.G490D Chr.22: 50572112-50572112 on Build GRCh38
5954992 c.1575G>A p.Q525Q Chr.22: 50572006-50572006 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs776588009 Chr.22: 50572162-50572162 on Build GRCh38
rs748534564 Chr.22: 50572078-50572078 on Build GRCh38
rs750137655 Chr.22: 50572057-50572057 on Build GRCh38
rs372433631 Chr.22: 50571985-50571985 on Build GRCh38
rs200086261 Chr.22: 50572111-50572111 on Build GRCh38
rs763851794 Chr.22: 50571973-50571973 on Build GRCh38
rs71318421 Chr.22: 50572038-50572038 on Build GRCh38
rs745389134 Chr.22: 50571994-50571994 on Build GRCh38
rs776931426 Chr.22: 50572007-50572007 on Build GRCh38
rs17848464 Chr.22: 50572174-50572174 on Build GRCh38
rs534608863 Chr.22: 50571995-50571995 on Build GRCh38
rs747516863 Chr.22: 50572002-50572002 on Build GRCh38
rs748482758 Chr.22: 50572014-50572014 on Build GRCh38
rs768321036 Chr.22: 50572144-50572145 on Build GRCh38
rs200007612 Chr.22: 50572045-50572045 on Build GRCh38
rs141870572 Chr.22: 50572044-50572044 on Build GRCh38
rs779490273 Chr.22: 50572058-50572058 on Build GRCh38
rs781685755 Chr.22: 50572077-50572077 on Build GRCh38
rs762688444 Chr.22: 50572103-50572106 on Build GRCh38
rs763053330 Chr.22: 50572033-50572033 on Build GRCh38
rs755449051 Chr.22: 50572066-50572066 on Build GRCh38
rs149756287 Chr.22: 50572031-50572031 on Build GRCh38
rs765169905 Chr.22: 50572166-50572166 on Build GRCh38
rs771178312 Chr.22: 50572105-50572105 on Build GRCh38
rs775340376 Chr.22: 50571991-50571992 on Build GRCh38
rs201226839 Chr.22: 50572084-50572084 on Build GRCh38
rs778650167 Chr.22: 50571990-50571990 on Build GRCh38
rs977922492 Chr.22: 50572175-50572175 on Build GRCh38
rs568789168 Chr.22: 50572034-50572034 on Build GRCh38
rs773536548 Chr.22: 50572085-50572085 on Build GRCh38
rs761807968 Chr.22: 50572165-50572165 on Build GRCh38
rs201639938 Chr.22: 50572129-50572129 on Build GRCh38
rs1030807341 Chr.22: 50572177-50572177 on Build GRCh38
rs773375016 Chr.22: 50572032-50572032 on Build GRCh38
rs750227778 Chr.22: 50572172-50572172 on Build GRCh38
rs144606575 Chr.22: 50572180-50572180 on Build GRCh38
rs769194775 Chr.22: 50572003-50572003 on Build GRCh38
rs1011286343 Chr.22: 50571998-50571998 on Build GRCh38
rs990897542 Chr.22: 50572125-50572125 on Build GRCh38
rs371865628 Chr.22: 50572095-50572095 on Build GRCh38
rs368305362 Chr.22: 50572049-50572049 on Build GRCh38
rs71318420 Chr.22: 50572029-50572029 on Build GRCh38
rs768500009 Chr.22: 50572135-50572135 on Build GRCh38
rs8142621 Chr.22: 50571987-50571987 on Build GRCh38
rs536023069 Chr.22: 50572052-50572052 on Build GRCh38
rs1053879735 Chr.22: 50571982-50571982 on Build GRCh38
rs779581825 Chr.22: 50572000-50572000 on Build GRCh38

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