Product Details

Primer Sequences
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Primer Chromosome Location
Chr.6: 80167561-80168004 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
BCKDHB
Entrez Gene ID
594
Gene Name
branched chain keto acid dehydrogenase E1 subunit beta
Gene Aliases
BCKDE1B, BCKDH E1-beta, E1B
UniGene
Hs.654441
Gene Chromosome Location
Chr.6: 80106610-80469088 on Build GRCh38
Transcripts
NM_000056.4 NM_001318975.1 NM_183050.3 NR_134945.1 XM_005248756.4 XM_011536023.2 XM_011536024.2 XM_011536025.2 XM_011536026.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5484871 c.372G>A p.L124L Chr.6: 80167706-80167706 on Build GRCh38
6610573 c.427G>A p.A143T Chr.6: 80167761-80167761 on Build GRCh38
5964347 c.410C>T p.A137V Chr.6: 80167744-80167744 on Build GRCh38
5163020 c.402C>T p.I134I Chr.6: 80167736-80167736 on Build GRCh38
1081945 c.435G>A p.A145A Chr.6: 80167769-80167769 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs398124574 Chr.6: 80167677-80167677 on Build GRCh38
rs934559515 Chr.6: 80167727-80167727 on Build GRCh38
rs779594181 Chr.6: 80167650-80167650 on Build GRCh38
rs574122134 Chr.6: 80167768-80167768 on Build GRCh38
rs757865717 Chr.6: 80167645-80167645 on Build GRCh38
rs781586403 Chr.6: 80167680-80167680 on Build GRCh38
rs984092629 Chr.6: 80167830-80167830 on Build GRCh38
rs869312130 Chr.6: 80167735-80167735 on Build GRCh38
rs148586471 Chr.6: 80167588-80167588 on Build GRCh38
rs765097275 Chr.6: 80167751-80167751 on Build GRCh38
rs879163635 Chr.6: 80167952-80167952 on Build GRCh38
rs958989070 Chr.6: 80167884-80167884 on Build GRCh38
rs187604700 Chr.6: 80167860-80167860 on Build GRCh38
rs73479953 Chr.6: 80167654-80167654 on Build GRCh38
rs762398486 Chr.6: 80167761-80167761 on Build GRCh38
rs905623126 Chr.6: 80167806-80167806 on Build GRCh38
rs142858149 Chr.6: 80167745-80167745 on Build GRCh38
rs1035778890 Chr.6: 80167819-80167819 on Build GRCh38
rs921986157 Chr.6: 80167867-80167867 on Build GRCh38
rs749902388 Chr.6: 80167643-80167643 on Build GRCh38
rs765953398 Chr.6: 80167764-80167764 on Build GRCh38
rs73479950 Chr.6: 80167590-80167590 on Build GRCh38
rs774472182 Chr.6: 80167726-80167726 on Build GRCh38
rs748479257 Chr.6: 80167656-80167656 on Build GRCh38
rs891015474 Chr.6: 80167703-80167703 on Build GRCh38
rs778168544 Chr.6: 80167801-80167801 on Build GRCh38
rs765214300 Chr.6: 80167632-80167632 on Build GRCh38
rs1054076746 Chr.6: 80167622-80167622 on Build GRCh38
rs879089153 Chr.6: 80167954-80167954 on Build GRCh38
rs924160428 Chr.6: 80167599-80167599 on Build GRCh38
rs974908766 Chr.6: 80167858-80167858 on Build GRCh38
rs923918870 Chr.6: 80167944-80167944 on Build GRCh38
rs772426371 Chr.6: 80167834-80167834 on Build GRCh38
rs772850899 Chr.6: 80167847-80167847 on Build GRCh38
rs112504381 Chr.6: 80167825-80167825 on Build GRCh38
rs759881863 Chr.6: 80167736-80167736 on Build GRCh38
rs974814086 Chr.6: 80167616-80167616 on Build GRCh38
rs751953459 Chr.6: 80167737-80167737 on Build GRCh38
rs770996331 Chr.6: 80167712-80167712 on Build GRCh38
rs745934384 Chr.6: 80167828-80167828 on Build GRCh38
rs757318276 Chr.6: 80167631-80167631 on Build GRCh38
rs1002472211 Chr.6: 80167812-80167812 on Build GRCh38
rs374642431 Chr.6: 80167770-80167770 on Build GRCh38
rs867033248 Chr.6: 80167783-80167783 on Build GRCh38
rs73750071 Chr.6: 80167881-80167881 on Build GRCh38
rs370267903 Chr.6: 80167769-80167769 on Build GRCh38
rs35969420 Chr.6: 80167781-80167781 on Build GRCh38
rs112844382 Chr.6: 80167843-80167843 on Build GRCh38
rs74599962 Chr.6: 80167750-80167750 on Build GRCh38
rs1011884367 Chr.6: 80167941-80167941 on Build GRCh38
rs748499543 Chr.6: 80167683-80167683 on Build GRCh38
rs749766896 Chr.6: 80167802-80167802 on Build GRCh38
rs775794152 Chr.6: 80167836-80167836 on Build GRCh38
rs867276414 Chr.6: 80167797-80167797 on Build GRCh38
rs369090338 Chr.6: 80167854-80167854 on Build GRCh38
rs776631396 Chr.6: 80167744-80167744 on Build GRCh38
rs770355362 Chr.6: 80167694-80167694 on Build GRCh38
rs754593273 Chr.6: 80167670-80167670 on Build GRCh38
rs572122909 Chr.6: 80167872-80167872 on Build GRCh38
rs762688386 Chr.6: 80167600-80167600 on Build GRCh38
rs398124575 Chr.6: 80167699-80167699 on Build GRCh38
rs749343269 Chr.6: 80167700-80167700 on Build GRCh38
rs987601673 Chr.6: 80167938-80167938 on Build GRCh38
rs933267402 Chr.6: 80167655-80167655 on Build GRCh38
rs935384723 Chr.6: 80167972-80167972 on Build GRCh38
rs750324428 Chr.6: 80167760-80167760 on Build GRCh38
rs121965005 Chr.6: 80167690-80167690 on Build GRCh38
rs936918468 Chr.6: 80167604-80167604 on Build GRCh38

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