Product Details

Primer Sequences
Log in to view
Primer Chromosome Location
Chr.22: 50571430-50571667 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
3555806 c.1667A>G p.K556R Chr.22: 50571448-50571448 on Build GRCh38
5631928 c.1656G>T p.L552L Chr.22: 50571459-50571459 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs1055128014 Chr.22: 50571644-50571644 on Build GRCh38
rs2516557 Chr.22: 50571623-50571623 on Build GRCh38
rs182745269 Chr.22: 50571489-50571489 on Build GRCh38
rs1025134975 Chr.22: 50571492-50571492 on Build GRCh38
rs470117 Chr.22: 50571524-50571524 on Build GRCh38
rs564998674 Chr.22: 50571616-50571616 on Build GRCh38
rs777233950 Chr.22: 50571452-50571452 on Build GRCh38
rs748854494 Chr.22: 50571455-50571455 on Build GRCh38
rs142560979 Chr.22: 50571498-50571498 on Build GRCh38
rs753963691 Chr.22: 50571488-50571488 on Build GRCh38
rs75013804 Chr.22: 50571633-50571633 on Build GRCh38
rs770692414 Chr.22: 50571532-50571532 on Build GRCh38
rs899317926 Chr.22: 50571640-50571640 on Build GRCh38
rs933638260 Chr.22: 50571578-50571578 on Build GRCh38
rs773974445 Chr.22: 50571465-50571465 on Build GRCh38
rs547165693 Chr.22: 50571628-50571628 on Build GRCh38
rs776000774 Chr.22: 50571485-50571485 on Build GRCh38
rs368775105 Chr.22: 50571531-50571531 on Build GRCh38
rs777514341 Chr.22: 50571525-50571525 on Build GRCh38
rs932577021 Chr.22: 50571542-50571542 on Build GRCh38
rs777034757 Chr.22: 50571563-50571563 on Build GRCh38
rs946628271 Chr.22: 50571527-50571527 on Build GRCh38
rs752551211 Chr.22: 50571512-50571512 on Build GRCh38
rs1051329352 Chr.22: 50571600-50571600 on Build GRCh38
rs772716164 Chr.22: 50571540-50571540 on Build GRCh38
rs541606300 Chr.22: 50571473-50571473 on Build GRCh38
rs778631811 Chr.22: 50571535-50571535 on Build GRCh38
rs375480699 Chr.22: 50571486-50571486 on Build GRCh38
rs995023186 Chr.22: 50571451-50571451 on Build GRCh38
rs940104525 Chr.22: 50571581-50571581 on Build GRCh38
rs776088303 Chr.22: 50571551-50571551 on Build GRCh38
rs761130254 Chr.22: 50571553-50571553 on Build GRCh38
rs542380962 Chr.22: 50571499-50571499 on Build GRCh38
rs771561844 Chr.22: 50571567-50571568 on Build GRCh38
rs923630198 Chr.22: 50571557-50571557 on Build GRCh38
rs768123435 Chr.22: 50571645-50571645 on Build GRCh38
rs529732244 Chr.22: 50571639-50571639 on Build GRCh38
rs762001787 Chr.22: 50571569-50571569 on Build GRCh38
rs772701834 Chr.22: 50571477-50571477 on Build GRCh38
rs768939591 Chr.22: 50571561-50571561 on Build GRCh38
rs773288646 Chr.22: 50571591-50571591 on Build GRCh38
rs200572653 Chr.22: 50571509-50571509 on Build GRCh38
rs770308940 Chr.22: 50571459-50571459 on Build GRCh38
rs765444374 Chr.22: 50571572-50571572 on Build GRCh38
rs745314788 Chr.22: 50571538-50571538 on Build GRCh38

View Full Product Details