Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50570808-50571310 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
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
445188 c.1783A>G p.R595G Chr.22: 50571250-50571250 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs41309651 Chr.22: 50571058-50571058 on Build GRCh38
rs747681414 Chr.22: 50570869-50570869 on Build GRCh38
rs1015594627 Chr.22: 50571183-50571183 on Build GRCh38
rs781499627 Chr.22: 50571212-50571212 on Build GRCh38
rs761346828 Chr.22: 50571282-50571282 on Build GRCh38
rs942028894 Chr.22: 50570907-50570907 on Build GRCh38
rs778963185 Chr.22: 50571043-50571060 on Build GRCh38
rs771242809 Chr.22: 50570898-50570898 on Build GRCh38
rs1030935274 Chr.22: 50571096-50571096 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
rs763642100 Chr.22: 50571120-50571120 on Build GRCh38
rs571519095 Chr.22: 50571216-50571216 on Build GRCh38
rs548589066 Chr.22: 50571090-50571090 on Build GRCh38
rs111375437 Chr.22: 50571042-50571042 on Build GRCh38
rs763034084 Chr.22: 50571050-50571050 on Build GRCh38
rs141885850 Chr.22: 50571231-50571231 on Build GRCh38
rs1804702 Chr.22: 50570928-50570928 on Build GRCh38
rs757737633 Chr.22: 50571002-50571002 on Build GRCh38
rs776825267 Chr.22: 50571048-50571048 on Build GRCh38
rs768308413 Chr.22: 50571260-50571260 on Build GRCh38
rs759309831 Chr.22: 50571081-50571081 on Build GRCh38
rs373274591 Chr.22: 50571139-50571139 on Build GRCh38
rs376060651 Chr.22: 50570914-50570914 on Build GRCh38
rs749675333 Chr.22: 50570891-50570891 on Build GRCh38
rs147955265 Chr.22: 50571226-50571226 on Build GRCh38
rs780618790 Chr.22: 50570862-50570862 on Build GRCh38
rs750905232 Chr.22: 50571200-50571200 on Build GRCh38
rs745866439 Chr.22: 50571240-50571240 on Build GRCh38
rs879299176 Chr.22: 50571286-50571286 on Build GRCh38
rs547204273 Chr.22: 50571276-50571276 on Build GRCh38
rs370319926 Chr.22: 50571184-50571184 on Build GRCh38
rs753347209 Chr.22: 50571193-50571193 on Build GRCh38
rs747299769 Chr.22: 50571148-50571148 on Build GRCh38
rs563717431 Chr.22: 50571165-50571165 on Build GRCh38
rs751219685 Chr.22: 50570842-50570842 on Build GRCh38
rs565468231 Chr.22: 50570910-50570910 on Build GRCh38
rs962953036 Chr.22: 50570875-50570875 on Build GRCh38
rs9628215 Chr.22: 50571057-50571057 on Build GRCh38
rs997901036 Chr.22: 50571089-50571089 on Build GRCh38
rs763727956 Chr.22: 50571185-50571185 on Build GRCh38
rs369404452 Chr.22: 50570969-50570969 on Build GRCh38
rs770998857 Chr.22: 50571162-50571162 on Build GRCh38
rs774083204 Chr.22: 50571077-50571077 on Build GRCh38
rs146224883 Chr.22: 50571039-50571039 on Build GRCh38
rs868688112 Chr.22: 50571181-50571181 on Build GRCh38
rs766819121 Chr.22: 50571202-50571202 on Build GRCh38
rs186124477 Chr.22: 50570881-50570881 on Build GRCh38
rs749903461 Chr.22: 50570971-50570971 on Build GRCh38
rs752352970 Chr.22: 50571091-50571091 on Build GRCh38
rs142545174 Chr.22: 50571194-50571194 on Build GRCh38
rs986376513 Chr.22: 50570848-50570848 on Build GRCh38
rs760737224 Chr.22: 50570933-50570933 on Build GRCh38
rs754382248 Chr.22: 50570993-50570993 on Build GRCh38
rs754646954 Chr.22: 50570972-50570972 on Build GRCh38
rs771940517 Chr.22: 50571171-50571171 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
rs757823432 Chr.22: 50571123-50571123 on Build GRCh38
rs376411523 Chr.22: 50571047-50571047 on Build GRCh38
rs748234740 Chr.22: 50571160-50571160 on Build GRCh38
rs991622036 Chr.22: 50570948-50570948 on Build GRCh38
rs767195024 Chr.22: 50570985-50570985 on Build GRCh38
rs190052870 Chr.22: 50570942-50570942 on Build GRCh38
rs139313667 Chr.22: 50571131-50571132 on Build GRCh38
rs201093489 Chr.22: 50571124-50571124 on Build GRCh38
rs369704504 Chr.22: 50571136-50571136 on Build GRCh38
rs780268095 Chr.22: 50571031-50571031 on Build GRCh38
rs774665817 Chr.22: 50570905-50570905 on Build GRCh38
rs755599953 Chr.22: 50570991-50570991 on Build GRCh38
rs371604703 Chr.22: 50570992-50570992 on Build GRCh38
rs769210121 Chr.22: 50571049-50571049 on Build GRCh38
rs779303402 Chr.22: 50571013-50571013 on Build GRCh38
rs768981014 Chr.22: 50571159-50571159 on Build GRCh38
rs764845864 Chr.22: 50571288-50571288 on Build GRCh38
rs144863640 Chr.22: 50571195-50571195 on Build GRCh38
rs751857890 Chr.22: 50571203-50571203 on Build GRCh38
rs758805208 Chr.22: 50571201-50571201 on Build GRCh38
rs1054226818 Chr.22: 50571063-50571063 on Build GRCh38
rs899626519 Chr.22: 50571076-50571076 on Build GRCh38
rs746735566 Chr.22: 50571245-50571245 on Build GRCh38
rs753329152 Chr.22: 50571121-50571121 on Build GRCh38
rs762875003 Chr.22: 50570959-50570959 on Build GRCh38
rs1017847866 Chr.22: 50571167-50571167 on Build GRCh38
rs377156417 Chr.22: 50571172-50571172 on Build GRCh38
rs759279643 Chr.22: 50571170-50571170 on Build GRCh38
rs746236569 Chr.22: 50571030-50571030 on Build GRCh38
rs760213715 Chr.22: 50571118-50571118 on Build GRCh38
rs773239962 Chr.22: 50570945-50570945 on Build GRCh38
rs780172543 Chr.22: 50571141-50571141 on Build GRCh38
rs746961011 Chr.22: 50571058-50571058 on Build GRCh38
rs372106303 Chr.22: 50570882-50570882 on Build GRCh38
rs775418955 Chr.22: 50571241-50571241 on Build GRCh38
rs755111353 Chr.22: 50570982-50570988 on Build GRCh38

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