Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50571283-50571784 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
4985733 c.1591G>A p.E531K Chr.22: 50571524-50571524 on Build GRCh38
6634957 c.1580A>G p.Q527R Chr.22: 50571535-50571535 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
3066097 c.1703C>T p.A568V Chr.22: 50571412-50571412 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs554141267 Chr.22: 50571356-50571356 on Build GRCh38
rs991282895 Chr.22: 50571723-50571723 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
rs564998674 Chr.22: 50571616-50571616 on Build GRCh38
rs537059868 Chr.22: 50571389-50571389 on Build GRCh38
rs753963691 Chr.22: 50571488-50571488 on Build GRCh38
rs773974445 Chr.22: 50571465-50571465 on Build GRCh38
rs933638260 Chr.22: 50571578-50571578 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
rs5770907 Chr.22: 50571683-50571683 on Build GRCh38
rs879127789 Chr.22: 50571648-50571648 on Build GRCh38
rs774951399 Chr.22: 50571398-50571398 on Build GRCh38
rs536617144 Chr.22: 50571687-50571687 on Build GRCh38
rs776088303 Chr.22: 50571551-50571551 on Build GRCh38
rs542380962 Chr.22: 50571499-50571499 on Build GRCh38
rs187475720 Chr.22: 50571741-50571741 on Build GRCh38
rs769321732 Chr.22: 50571381-50571381 on Build GRCh38
rs1011698593 Chr.22: 50571736-50571736 on Build GRCh38
rs758356492 Chr.22: 50571363-50571363 on Build GRCh38
rs768939591 Chr.22: 50571561-50571561 on Build GRCh38
rs746825765 Chr.22: 50571366-50571366 on Build GRCh38
rs1055128014 Chr.22: 50571644-50571644 on Build GRCh38
rs2516557 Chr.22: 50571623-50571623 on Build GRCh38
rs1025134975 Chr.22: 50571492-50571492 on Build GRCh38
rs1022155298 Chr.22: 50571750-50571750 on Build GRCh38
rs368775105 Chr.22: 50571531-50571531 on Build GRCh38
rs932577021 Chr.22: 50571542-50571542 on Build GRCh38
rs200682800 Chr.22: 50571307-50571307 on Build GRCh38
rs963608633 Chr.22: 50571443-50571443 on Build GRCh38
rs752551211 Chr.22: 50571512-50571512 on Build GRCh38
rs1051329352 Chr.22: 50571600-50571600 on Build GRCh38
rs753006231 Chr.22: 50571345-50571345 on Build GRCh38
rs547840719 Chr.22: 50571672-50571672 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
rs765862769 Chr.22: 50571712-50571712 on Build GRCh38
rs138391114 Chr.22: 50571377-50571377 on Build GRCh38
rs995071943 Chr.22: 50571664-50571664 on Build GRCh38
rs754889760 Chr.22: 50571440-50571440 on Build GRCh38
rs1055483566 Chr.22: 50571344-50571344 on Build GRCh38
rs529732244 Chr.22: 50571639-50571639 on Build GRCh38
rs1013805505 Chr.22: 50571660-50571662 on Build GRCh38
rs772701834 Chr.22: 50571477-50571477 on Build GRCh38
rs770308940 Chr.22: 50571459-50571459 on Build GRCh38
rs762303978 Chr.22: 50571396-50571396 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
rs899317926 Chr.22: 50571640-50571640 on Build GRCh38
rs767875760 Chr.22: 50571341-50571341 on Build GRCh38
rs765879228 Chr.22: 50571665-50571665 on Build GRCh38
rs761024071 Chr.22: 50571409-50571409 on Build GRCh38
rs755339164 Chr.22: 50571333-50571333 on Build GRCh38
rs753098030 Chr.22: 50571408-50571408 on Build GRCh38
rs769961489 Chr.22: 50571357-50571357 on Build GRCh38
rs143499448 Chr.22: 50571427-50571427 on Build GRCh38
rs761130254 Chr.22: 50571553-50571553 on Build GRCh38
rs771561844 Chr.22: 50571567-50571568 on Build GRCh38
rs148842805 Chr.22: 50571397-50571397 on Build GRCh38
rs923630198 Chr.22: 50571557-50571557 on Build GRCh38
rs762001787 Chr.22: 50571569-50571569 on Build GRCh38
rs764152784 Chr.22: 50571413-50571413 on Build GRCh38
rs28378090 Chr.22: 50571306-50571306 on Build GRCh38
rs765444374 Chr.22: 50571572-50571572 on Build GRCh38
rs558541090 Chr.22: 50571710-50571710 on Build GRCh38
rs937844911 Chr.22: 50571323-50571323 on Build GRCh38
rs142560979 Chr.22: 50571498-50571498 on Build GRCh38
rs745993570 Chr.22: 50571330-50571330 on Build GRCh38
rs145751063 Chr.22: 50571376-50571376 on Build GRCh38
rs75013804 Chr.22: 50571633-50571633 on Build GRCh38
rs776000774 Chr.22: 50571485-50571485 on Build GRCh38
rs547165693 Chr.22: 50571628-50571628 on Build GRCh38
rs768041231 Chr.22: 50571401-50571401 on Build GRCh38
rs777514341 Chr.22: 50571525-50571525 on Build GRCh38
rs777034757 Chr.22: 50571563-50571563 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
rs370199879 Chr.22: 50571370-50571370 on Build GRCh38
rs375480699 Chr.22: 50571486-50571486 on Build GRCh38
rs940104525 Chr.22: 50571581-50571581 on Build GRCh38
rs779994264 Chr.22: 50571431-50571431 on Build GRCh38
rs768123435 Chr.22: 50571645-50571645 on Build GRCh38
rs946575667 Chr.22: 50571348-50571348 on Build GRCh38
rs148018730 Chr.22: 50571441-50571441 on Build GRCh38
rs374019989 Chr.22: 50571309-50571309 on Build GRCh38
rs1035392811 Chr.22: 50571711-50571711 on Build GRCh38
rs773288646 Chr.22: 50571591-50571591 on Build GRCh38
rs200572653 Chr.22: 50571509-50571509 on Build GRCh38
rs577490693 Chr.22: 50571432-50571432 on Build GRCh38
rs745314788 Chr.22: 50571538-50571538 on Build GRCh38

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