Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50571066-50571567 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
7212387 c.1857G>A p.M619I Chr.22: 50571176-50571176 on Build GRCh38
6234342 c.1759C>A p.L587M Chr.22: 50571274-50571274 on Build GRCh38
4985733 c.1591G>A p.E531K Chr.22: 50571524-50571524 on Build GRCh38
1417171 c.1793G>A p.R598Q Chr.22: 50571240-50571240 on Build GRCh38
6634957 c.1580A>G p.Q527R Chr.22: 50571535-50571535 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs554141267 Chr.22: 50571356-50571356 on Build GRCh38
rs1015594627 Chr.22: 50571183-50571183 on Build GRCh38
rs182745269 Chr.22: 50571489-50571489 on Build GRCh38
rs470117 Chr.22: 50571524-50571524 on Build GRCh38
rs777233950 Chr.22: 50571452-50571452 on Build GRCh38
rs537059868 Chr.22: 50571389-50571389 on Build GRCh38
rs1030935274 Chr.22: 50571096-50571096 on Build GRCh38
rs753963691 Chr.22: 50571488-50571488 on Build GRCh38
rs763642100 Chr.22: 50571120-50571120 on Build GRCh38
rs565419954 Chr.22: 50571303-50571303 on Build GRCh38
rs141885850 Chr.22: 50571231-50571231 on Build GRCh38
rs773974445 Chr.22: 50571465-50571465 on Build GRCh38
rs768308413 Chr.22: 50571260-50571260 on Build GRCh38
rs757232205 Chr.22: 50571428-50571428 on Build GRCh38
rs756265877 Chr.22: 50571347-50571347 on Build GRCh38
rs940052379 Chr.22: 50571371-50571371 on Build GRCh38
rs990003005 Chr.22: 50571321-50571326 on Build GRCh38
rs750905232 Chr.22: 50571200-50571200 on Build GRCh38
rs745866439 Chr.22: 50571240-50571240 on Build GRCh38
rs547204273 Chr.22: 50571276-50571276 on Build GRCh38
rs774951399 Chr.22: 50571398-50571398 on Build GRCh38
rs370319926 Chr.22: 50571184-50571184 on Build GRCh38
rs753347209 Chr.22: 50571193-50571193 on Build GRCh38
rs542380962 Chr.22: 50571499-50571499 on Build GRCh38
rs769321732 Chr.22: 50571381-50571381 on Build GRCh38
rs758356492 Chr.22: 50571363-50571363 on Build GRCh38
rs752352970 Chr.22: 50571091-50571091 on Build GRCh38
rs746825765 Chr.22: 50571366-50571366 on Build GRCh38
rs1025134975 Chr.22: 50571492-50571492 on Build GRCh38
rs757823432 Chr.22: 50571123-50571123 on Build GRCh38
rs748234740 Chr.22: 50571160-50571160 on Build GRCh38
rs139313667 Chr.22: 50571131-50571132 on Build GRCh38
rs201093489 Chr.22: 50571124-50571124 on Build GRCh38
rs368775105 Chr.22: 50571531-50571531 on Build GRCh38
rs200682800 Chr.22: 50571307-50571307 on Build GRCh38
rs932577021 Chr.22: 50571542-50571542 on Build GRCh38
rs963608633 Chr.22: 50571443-50571443 on Build GRCh38
rs764845864 Chr.22: 50571288-50571288 on Build GRCh38
rs144863640 Chr.22: 50571195-50571195 on Build GRCh38
rs752551211 Chr.22: 50571512-50571512 on Build GRCh38
rs753006231 Chr.22: 50571345-50571345 on Build GRCh38
rs751857890 Chr.22: 50571203-50571203 on Build GRCh38
rs541606300 Chr.22: 50571473-50571473 on Build GRCh38
rs747935663 Chr.22: 50571444-50571444 on Build GRCh38
rs778631811 Chr.22: 50571535-50571535 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
rs754889760 Chr.22: 50571440-50571440 on Build GRCh38
rs759279643 Chr.22: 50571170-50571170 on Build GRCh38
rs1055483566 Chr.22: 50571344-50571344 on Build GRCh38
rs780172543 Chr.22: 50571141-50571141 on Build GRCh38
rs772701834 Chr.22: 50571477-50571477 on Build GRCh38
rs770308940 Chr.22: 50571459-50571459 on Build GRCh38
rs775418955 Chr.22: 50571241-50571241 on Build GRCh38
rs762303978 Chr.22: 50571396-50571396 on Build GRCh38
rs781499627 Chr.22: 50571212-50571212 on Build GRCh38
rs761346828 Chr.22: 50571282-50571282 on Build GRCh38
rs748854494 Chr.22: 50571455-50571455 on Build GRCh38
rs770692414 Chr.22: 50571532-50571532 on Build GRCh38
rs760088301 Chr.22: 50571399-50571399 on Build GRCh38
rs548589066 Chr.22: 50571090-50571090 on Build GRCh38
rs571519095 Chr.22: 50571216-50571216 on Build GRCh38
rs767875760 Chr.22: 50571341-50571341 on Build GRCh38
rs761024071 Chr.22: 50571409-50571409 on Build GRCh38
rs755339164 Chr.22: 50571333-50571333 on Build GRCh38
rs935924215 Chr.22: 50571293-50571293 on Build GRCh38
rs753098030 Chr.22: 50571408-50571408 on Build GRCh38
rs373274591 Chr.22: 50571139-50571139 on Build GRCh38
rs769961489 Chr.22: 50571357-50571357 on Build GRCh38
rs147955265 Chr.22: 50571226-50571226 on Build GRCh38
rs879299176 Chr.22: 50571286-50571286 on Build GRCh38
rs143499448 Chr.22: 50571427-50571427 on Build GRCh38
rs747299769 Chr.22: 50571148-50571148 on Build GRCh38
rs563717431 Chr.22: 50571165-50571165 on Build GRCh38
rs148842805 Chr.22: 50571397-50571397 on Build GRCh38
rs997901036 Chr.22: 50571089-50571089 on Build GRCh38
rs763727956 Chr.22: 50571185-50571185 on Build GRCh38
rs770998857 Chr.22: 50571162-50571162 on Build GRCh38
rs868688112 Chr.22: 50571181-50571181 on Build GRCh38
rs766819121 Chr.22: 50571202-50571202 on Build GRCh38
rs764152784 Chr.22: 50571413-50571413 on Build GRCh38
rs142545174 Chr.22: 50571194-50571194 on Build GRCh38
rs982136478 Chr.22: 50571294-50571294 on Build GRCh38
rs28378090 Chr.22: 50571306-50571306 on Build GRCh38
rs771940517 Chr.22: 50571171-50571171 on Build GRCh38
rs937844911 Chr.22: 50571323-50571323 on Build GRCh38
rs748040203 Chr.22: 50571207-50571207 on Build GRCh38
rs755318861 Chr.22: 50571204-50571204 on Build GRCh38
rs770881682 Chr.22: 50571091-50571094 on Build GRCh38
rs142560979 Chr.22: 50571498-50571498 on Build GRCh38
rs145751063 Chr.22: 50571376-50571376 on Build GRCh38
rs745993570 Chr.22: 50571330-50571330 on Build GRCh38
rs776000774 Chr.22: 50571485-50571485 on Build GRCh38
rs369704504 Chr.22: 50571136-50571136 on Build GRCh38
rs768041231 Chr.22: 50571401-50571401 on Build GRCh38
rs777514341 Chr.22: 50571525-50571525 on Build GRCh38
rs768981014 Chr.22: 50571159-50571159 on Build GRCh38
rs375637448 Chr.22: 50571364-50571364 on Build GRCh38
rs766793618 Chr.22: 50571310-50571310 on Build GRCh38
rs769492918 Chr.22: 50571448-50571448 on Build GRCh38
rs946628271 Chr.22: 50571527-50571527 on Build GRCh38
rs772716164 Chr.22: 50571540-50571540 on Build GRCh38
rs758805208 Chr.22: 50571201-50571201 on Build GRCh38
rs370199879 Chr.22: 50571370-50571370 on Build GRCh38
rs375480699 Chr.22: 50571486-50571486 on Build GRCh38
rs753329152 Chr.22: 50571121-50571121 on Build GRCh38
rs1017847866 Chr.22: 50571167-50571167 on Build GRCh38
rs779994264 Chr.22: 50571431-50571431 on Build GRCh38
rs377156417 Chr.22: 50571172-50571172 on Build GRCh38
rs946575667 Chr.22: 50571348-50571348 on Build GRCh38
rs760213715 Chr.22: 50571118-50571118 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
rs200572653 Chr.22: 50571509-50571509 on Build GRCh38
rs745314788 Chr.22: 50571538-50571538 on Build GRCh38

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