Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50571212-50571485 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
6234342 c.1759C>A p.L587M Chr.22: 50571274-50571274 on Build GRCh38
1417171 c.1793G>A p.R598Q Chr.22: 50571240-50571240 on Build GRCh38
6634960 c.1745G>T p.R582M Chr.22: 50571288-50571288 on Build GRCh38
4471185 c.1704C>T p.A568A Chr.22: 50571411-50571411 on Build GRCh38
445188 c.1783A>G p.R595G Chr.22: 50571250-50571250 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs762303978 Chr.22: 50571396-50571396 on Build GRCh38
rs554141267 Chr.22: 50571356-50571356 on Build GRCh38
rs761346828 Chr.22: 50571282-50571282 on Build GRCh38
rs777233950 Chr.22: 50571452-50571452 on Build GRCh38
rs748854494 Chr.22: 50571455-50571455 on Build GRCh38
rs537059868 Chr.22: 50571389-50571389 on Build GRCh38
rs760088301 Chr.22: 50571399-50571399 on Build GRCh38
rs565419954 Chr.22: 50571303-50571303 on Build GRCh38
rs141885850 Chr.22: 50571231-50571231 on Build GRCh38
rs767875760 Chr.22: 50571341-50571341 on Build GRCh38
rs768308413 Chr.22: 50571260-50571260 on Build GRCh38
rs761024071 Chr.22: 50571409-50571409 on Build GRCh38
rs757232205 Chr.22: 50571428-50571428 on Build GRCh38
rs755339164 Chr.22: 50571333-50571333 on Build GRCh38
rs756265877 Chr.22: 50571347-50571347 on Build GRCh38
rs935924215 Chr.22: 50571293-50571293 on Build GRCh38
rs940052379 Chr.22: 50571371-50571371 on Build GRCh38
rs990003005 Chr.22: 50571321-50571326 on Build GRCh38
rs753098030 Chr.22: 50571408-50571408 on Build GRCh38
rs769961489 Chr.22: 50571357-50571357 on Build GRCh38
rs745866439 Chr.22: 50571240-50571240 on Build GRCh38
rs879299176 Chr.22: 50571286-50571286 on Build GRCh38
rs143499448 Chr.22: 50571427-50571427 on Build GRCh38
rs547204273 Chr.22: 50571276-50571276 on Build GRCh38
rs774951399 Chr.22: 50571398-50571398 on Build GRCh38
rs148842805 Chr.22: 50571397-50571397 on Build GRCh38
rs769321732 Chr.22: 50571381-50571381 on Build GRCh38
rs758356492 Chr.22: 50571363-50571363 on Build GRCh38
rs764152784 Chr.22: 50571413-50571413 on Build GRCh38
rs982136478 Chr.22: 50571294-50571294 on Build GRCh38
rs28378090 Chr.22: 50571306-50571306 on Build GRCh38
rs746825765 Chr.22: 50571366-50571366 on Build GRCh38
rs937844911 Chr.22: 50571323-50571323 on Build GRCh38
rs745993570 Chr.22: 50571330-50571330 on Build GRCh38
rs145751063 Chr.22: 50571376-50571376 on Build GRCh38
rs768041231 Chr.22: 50571401-50571401 on Build GRCh38
rs200682800 Chr.22: 50571307-50571307 on Build GRCh38
rs375637448 Chr.22: 50571364-50571364 on Build GRCh38
rs963608633 Chr.22: 50571443-50571443 on Build GRCh38
rs764845864 Chr.22: 50571288-50571288 on Build GRCh38
rs769492918 Chr.22: 50571448-50571448 on Build GRCh38
rs766793618 Chr.22: 50571310-50571310 on Build GRCh38
rs753006231 Chr.22: 50571345-50571345 on Build GRCh38
rs370199879 Chr.22: 50571370-50571370 on Build GRCh38
rs747935663 Chr.22: 50571444-50571444 on Build GRCh38
rs995023186 Chr.22: 50571451-50571451 on Build GRCh38
rs138391114 Chr.22: 50571377-50571377 on Build GRCh38
rs746735566 Chr.22: 50571245-50571245 on Build GRCh38
rs779994264 Chr.22: 50571431-50571431 on Build GRCh38
rs754889760 Chr.22: 50571440-50571440 on Build GRCh38
rs946575667 Chr.22: 50571348-50571348 on Build GRCh38
rs1055483566 Chr.22: 50571344-50571344 on Build GRCh38
rs148018730 Chr.22: 50571441-50571441 on Build GRCh38
rs374019989 Chr.22: 50571309-50571309 on Build GRCh38
rs577490693 Chr.22: 50571432-50571432 on Build GRCh38
rs770308940 Chr.22: 50571459-50571459 on Build GRCh38
rs775418955 Chr.22: 50571241-50571241 on Build GRCh38

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