Product Details

Primer Sequences
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Primer Chromosome Location
Chr.19: 41422640-41422885 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
BCKDHA
Entrez Gene ID
593
Gene Name
branched chain keto acid dehydrogenase E1, alpha polypeptide
Gene Aliases
BCKDE1A, MSU, MSUD1, OVD1A
UniGene
Hs.433307
Gene Chromosome Location
Chr.19: 41397789-41425005 on Build GRCh38
Transcripts
NM_000709.3 NM_001164783.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
997029 c.899G>A p.G300D Chr.19: 41422674-41422674 on Build GRCh38
3933055 c.972C>T p.F324F Chr.19: 41422747-41422747 on Build GRCh38
997030 c.943C>T p.R315W Chr.19: 41422718-41422718 on Build GRCh38
6990039 c.877A>T p.I293F Chr.19: 41422652-41422652 on Build GRCh38
3712934 c.969C>T p.P323P Chr.19: 41422744-41422744 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs398123513 Chr.19: 41422739-41422739 on Build GRCh38
rs773329070 Chr.19: 41422799-41422799 on Build GRCh38
rs766943310 Chr.19: 41422733-41422733 on Build GRCh38
rs570216625 Chr.19: 41422818-41422818 on Build GRCh38
rs144372407 Chr.19: 41422716-41422716 on Build GRCh38
rs398123510 Chr.19: 41422684-41422685 on Build GRCh38
rs756872828 Chr.19: 41422795-41422796 on Build GRCh38
rs554114199 Chr.19: 41422822-41422822 on Build GRCh38
rs200137189 Chr.19: 41422665-41422665 on Build GRCh38
rs768635988 Chr.19: 41422788-41422788 on Build GRCh38
rs398123512 Chr.19: 41422692-41422692 on Build GRCh38
rs753093318 Chr.19: 41422783-41422785 on Build GRCh38
rs284652 Chr.19: 41422747-41422747 on Build GRCh38
rs745333513 Chr.19: 41422783-41422783 on Build GRCh38
rs999090854 Chr.19: 41422773-41422773 on Build GRCh38
rs904711508 Chr.19: 41422768-41422768 on Build GRCh38
rs763286638 Chr.19: 41422809-41422809 on Build GRCh38
rs768141390 Chr.19: 41422814-41422814 on Build GRCh38
rs376811066 Chr.19: 41422787-41422787 on Build GRCh38
rs748919780 Chr.19: 41422690-41422690 on Build GRCh38
rs781688443 Chr.19: 41422751-41422751 on Build GRCh38
rs758972542 Chr.19: 41422696-41422696 on Build GRCh38
rs755482513 Chr.19: 41422813-41422813 on Build GRCh38
rs971966509 Chr.19: 41422852-41422852 on Build GRCh38
rs760651615 Chr.19: 41422700-41422700 on Build GRCh38
rs753698250 Chr.19: 41422715-41422715 on Build GRCh38
rs763842430 Chr.19: 41422702-41422702 on Build GRCh38
rs138261404 Chr.19: 41422694-41422694 on Build GRCh38
rs13343330 Chr.19: 41422779-41422779 on Build GRCh38
rs145901144 Chr.19: 41422664-41422664 on Build GRCh38
rs781724398 Chr.19: 41422674-41422674 on Build GRCh38
rs284654 Chr.19: 41422819-41422819 on Build GRCh38
rs398123514 Chr.19: 41422753-41422753 on Build GRCh38
rs55940366 Chr.19: 41422750-41422750 on Build GRCh38
rs201109190 Chr.19: 41422719-41422719 on Build GRCh38
rs112312448 Chr.19: 41422748-41422748 on Build GRCh38
rs751757742 Chr.19: 41422812-41422812 on Build GRCh38
rs139390622 Chr.19: 41422699-41422699 on Build GRCh38
rs398123511 Chr.19: 41422685-41422685 on Build GRCh38
rs284653 Chr.19: 41422796-41422796 on Build GRCh38
rs918895111 Chr.19: 41422725-41422725 on Build GRCh38
rs1051202133 Chr.19: 41422858-41422858 on Build GRCh38
rs779466371 Chr.19: 41422743-41422743 on Build GRCh38
rs398123509 Chr.19: 41422680-41422680 on Build GRCh38
rs137852875 Chr.19: 41422704-41422704 on Build GRCh38
rs765590387 Chr.19: 41422783-41422783 on Build GRCh38
rs284655 Chr.19: 41422860-41422860 on Build GRCh38
rs761521238 Chr.19: 41422793-41422793 on Build GRCh38
rs1032350217 Chr.19: 41422778-41422778 on Build GRCh38
rs773852792 Chr.19: 41422695-41422695 on Build GRCh38
rs868148933 Chr.19: 41422689-41422689 on Build GRCh38
rs758442329 Chr.19: 41422721-41422721 on Build GRCh38
rs373076000 Chr.19: 41422789-41422789 on Build GRCh38
rs373336888 Chr.19: 41422718-41422718 on Build GRCh38
rs190858285 Chr.19: 41422723-41422723 on Build GRCh38
rs769448462 Chr.19: 41422833-41422833 on Build GRCh38
rs766537321 Chr.19: 41422811-41422811 on Build GRCh38
rs398123515 Chr.19: 41422754-41422754 on Build GRCh38
rs187669174 Chr.19: 41422666-41422666 on Build GRCh38
rs963552311 Chr.19: 41422846-41422846 on Build GRCh38
rs1024878820 Chr.19: 41422776-41422776 on Build GRCh38
rs972403437 Chr.19: 41422722-41422722 on Build GRCh38
rs558331396 Chr.19: 41422698-41422698 on Build GRCh38
rs886054462 Chr.19: 41422778-41422778 on Build GRCh38
rs778460909 Chr.19: 41422780-41422780 on Build GRCh38

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