Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 50572838-50573107 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
3973047 c.1275C>G p.S425S Chr.22: 50572952-50572952 on Build GRCh38
3066107 c.1246G>A p.A416T Chr.22: 50572981-50572981 on Build GRCh38
4938637 c.1196T>C p.F399S Chr.22: 50573031-50573031 on Build GRCh38
1202209 c.1255G>A p.V419M Chr.22: 50572972-50572972 on Build GRCh38
4425501 c.1178C>T p.A393V Chr.22: 50573049-50573049 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs768291997 Chr.22: 50573014-50573014 on Build GRCh38
rs750372020 Chr.22: 50573072-50573072 on Build GRCh38
rs749300669 Chr.22: 50572921-50572921 on Build GRCh38
rs767087707 Chr.22: 50572859-50572859 on Build GRCh38
rs771890477 Chr.22: 50572991-50572991 on Build GRCh38
rs780367095 Chr.22: 50572895-50572895 on Build GRCh38
rs770762991 Chr.22: 50572924-50572924 on Build GRCh38
rs776207880 Chr.22: 50573016-50573016 on Build GRCh38
rs766739758 Chr.22: 50572972-50572972 on Build GRCh38
rs751963490 Chr.22: 50573044-50573044 on Build GRCh38
rs774272143 Chr.22: 50572926-50572926 on Build GRCh38
rs144799109 Chr.22: 50572893-50572893 on Build GRCh38
rs953654866 Chr.22: 50573056-50573056 on Build GRCh38
rs964230687 Chr.22: 50572949-50572949 on Build GRCh38
rs546046921 Chr.22: 50572942-50572942 on Build GRCh38
rs758788118 Chr.22: 50572964-50572964 on Build GRCh38
rs992745003 Chr.22: 50572975-50572975 on Build GRCh38
rs758278537 Chr.22: 50573067-50573067 on Build GRCh38
rs750746650 Chr.22: 50572890-50572890 on Build GRCh38
rs745589803 Chr.22: 50572932-50572932 on Build GRCh38
rs774982593 Chr.22: 50572937-50572937 on Build GRCh38
rs201454560 Chr.22: 50573029-50573029 on Build GRCh38
rs868445792 Chr.22: 50572936-50572936 on Build GRCh38
rs779801967 Chr.22: 50572999-50572999 on Build GRCh38
rs758318038 Chr.22: 50573082-50573082 on Build GRCh38
rs200392450 Chr.22: 50573024-50573024 on Build GRCh38
rs760126269 Chr.22: 50572869-50572869 on Build GRCh38
rs755232904 Chr.22: 50572976-50572976 on Build GRCh38
rs775080587 Chr.22: 50572943-50572943 on Build GRCh38
rs761171877 Chr.22: 50573023-50573023 on Build GRCh38
rs765690915 Chr.22: 50572886-50572886 on Build GRCh38
rs774991061 Chr.22: 50572866-50572866 on Build GRCh38
rs539995250 Chr.22: 50573055-50573055 on Build GRCh38
rs8142477 Chr.22: 50572947-50572947 on Build GRCh38
rs745702877 Chr.22: 50572990-50572990 on Build GRCh38
rs757683021 Chr.22: 50572885-50572885 on Build GRCh38
rs747108754 Chr.22: 50572907-50572907 on Build GRCh38
rs370010242 Chr.22: 50572870-50572870 on Build GRCh38
rs755069522 Chr.22: 50572908-50572908 on Build GRCh38
rs765594923 Chr.22: 50572952-50572952 on Build GRCh38
rs766904019 Chr.22: 50573043-50573043 on Build GRCh38
rs546597240 Chr.22: 50572950-50572950 on Build GRCh38
rs34744246 Chr.22: 50572919-50572919 on Build GRCh38
rs761175797 Chr.22: 50573087-50573087 on Build GRCh38
rs778663440 Chr.22: 50572987-50572987 on Build GRCh38
rs757229551 Chr.22: 50572986-50572986 on Build GRCh38
rs202199840 Chr.22: 50572871-50572871 on Build GRCh38
rs141820211 Chr.22: 50572944-50572944 on Build GRCh38
rs770356762 Chr.22: 50573028-50573028 on Build GRCh38
rs759134037 Chr.22: 50572982-50572982 on Build GRCh38
rs561711187 Chr.22: 50572973-50572973 on Build GRCh38
rs369593888 Chr.22: 50573047-50573047 on Build GRCh38
rs572856960 Chr.22: 50573041-50573041 on Build GRCh38
rs140100981 Chr.22: 50572981-50572981 on Build GRCh38
rs752260496 Chr.22: 50573049-50573049 on Build GRCh38
rs746721222 Chr.22: 50573005-50573005 on Build GRCh38
rs151130325 Chr.22: 50572955-50572955 on Build GRCh38
rs756104314 Chr.22: 50573065-50573065 on Build GRCh38
rs373936860 Chr.22: 50572897-50572897 on Build GRCh38
rs762448301 Chr.22: 50572951-50572951 on Build GRCh38
rs964312394 Chr.22: 50572927-50572927 on Build GRCh38
rs150309698 Chr.22: 50573040-50573040 on Build GRCh38
rs34945006 Chr.22: 50573021-50573022 on Build GRCh38

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