Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50570818-50571077 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
6304430 c.1948G>A p.G650R Chr.22: 50570971-50570971 on Build GRCh38
5514370 c.1876-4G>A p.? Chr.22: 50571047-50571047 on Build GRCh38
4674493 c.1932C>T p.Y644Y Chr.22: 50570987-50570987 on Build GRCh38
6634969 c.1940C>T p.A647V Chr.22: 50570979-50570979 on Build GRCh38
726701 c.2026G>A p.E676K Chr.22: 50570893-50570893 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs747681414 Chr.22: 50570869-50570869 on Build GRCh38
rs778963185 Chr.22: 50571043-50571060 on Build GRCh38
rs942028894 Chr.22: 50570907-50570907 on Build GRCh38
rs771242809 Chr.22: 50570898-50570898 on Build GRCh38
rs752154261 Chr.22: 50570986-50570986 on Build GRCh38
rs929355504 Chr.22: 50570960-50570960 on Build GRCh38
rs754629436 Chr.22: 50570843-50570843 on Build GRCh38
rs111375437 Chr.22: 50571042-50571042 on Build GRCh38
rs763034084 Chr.22: 50571050-50571050 on Build GRCh38
rs376411523 Chr.22: 50571047-50571047 on Build GRCh38
rs1804702 Chr.22: 50570928-50570928 on Build GRCh38
rs991622036 Chr.22: 50570948-50570948 on Build GRCh38
rs757737633 Chr.22: 50571002-50571002 on Build GRCh38
rs767195024 Chr.22: 50570985-50570985 on Build GRCh38
rs190052870 Chr.22: 50570942-50570942 on Build GRCh38
rs776825267 Chr.22: 50571048-50571048 on Build GRCh38
rs774665817 Chr.22: 50570905-50570905 on Build GRCh38
rs780268095 Chr.22: 50571031-50571031 on Build GRCh38
rs755599953 Chr.22: 50570991-50570991 on Build GRCh38
rs371604703 Chr.22: 50570992-50570992 on Build GRCh38
rs779303402 Chr.22: 50571013-50571013 on Build GRCh38
rs769210121 Chr.22: 50571049-50571049 on Build GRCh38
rs376060651 Chr.22: 50570914-50570914 on Build GRCh38
rs749675333 Chr.22: 50570891-50570891 on Build GRCh38
rs780618790 Chr.22: 50570862-50570862 on Build GRCh38
rs565468231 Chr.22: 50570910-50570910 on Build GRCh38
rs751219685 Chr.22: 50570842-50570842 on Build GRCh38
rs962953036 Chr.22: 50570875-50570875 on Build GRCh38
rs762875003 Chr.22: 50570959-50570959 on Build GRCh38
rs746236569 Chr.22: 50571030-50571030 on Build GRCh38
rs369404452 Chr.22: 50570969-50570969 on Build GRCh38
rs146224883 Chr.22: 50571039-50571039 on Build GRCh38
rs186124477 Chr.22: 50570881-50570881 on Build GRCh38
rs773239962 Chr.22: 50570945-50570945 on Build GRCh38
rs749903461 Chr.22: 50570971-50570971 on Build GRCh38
rs986376513 Chr.22: 50570848-50570848 on Build GRCh38
rs372106303 Chr.22: 50570882-50570882 on Build GRCh38
rs754382248 Chr.22: 50570993-50570993 on Build GRCh38
rs760737224 Chr.22: 50570933-50570933 on Build GRCh38
rs754646954 Chr.22: 50570972-50570972 on Build GRCh38
rs755111353 Chr.22: 50570982-50570988 on Build GRCh38

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