Product Details

Primer Sequences
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Primer Chromosome Location
Chr.16: 31109530-31109761 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
BCKDK
Entrez Gene ID
10295
Gene Name
branched chain ketoacid dehydrogenase kinase
Gene Aliases
BCKDKD, BDK
UniGene
Hs.513520
Gene Chromosome Location
Chr.16: 31108294-31117651 on Build GRCh38
Transcripts
NM_001122957.2 NM_001271926.1 NM_005881.3 XM_017022859.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6610579 c.283C>T p.Q95* Chr.16: 31109691-31109691 on Build GRCh38
3712024 c.232G>A p.A78T Chr.16: 31109547-31109547 on Build GRCh38
2917543 c.239G>T p.R80L Chr.16: 31109554-31109554 on Build GRCh38
6610599 c.262C>G p.L88V Chr.16: 31109577-31109577 on Build GRCh38
3969545 c.328C>T p.R110C Chr.16: 31109736-31109736 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs556255123 Chr.16: 31109713-31109713 on Build GRCh38
rs144675159 Chr.16: 31109653-31109653 on Build GRCh38
rs370133758 Chr.16: 31109642-31109642 on Build GRCh38
rs566392331 Chr.16: 31109556-31109556 on Build GRCh38
rs763232837 Chr.16: 31109604-31109604 on Build GRCh38
rs267604516 Chr.16: 31109710-31109710 on Build GRCh38
rs558843870 Chr.16: 31109596-31109596 on Build GRCh38
rs749243097 Chr.16: 31109696-31109696 on Build GRCh38
rs757061262 Chr.16: 31109704-31109704 on Build GRCh38
rs903717685 Chr.16: 31109691-31109691 on Build GRCh38
rs374518693 Chr.16: 31109646-31109646 on Build GRCh38
rs144747578 Chr.16: 31109680-31109680 on Build GRCh38
rs745531188 Chr.16: 31109716-31109716 on Build GRCh38
rs773734655 Chr.16: 31109598-31109598 on Build GRCh38
rs771666142 Chr.16: 31109737-31109737 on Build GRCh38
rs766738427 Chr.16: 31109606-31109606 on Build GRCh38
rs201870679 Chr.16: 31109681-31109681 on Build GRCh38
rs777812892 Chr.16: 31109683-31109683 on Build GRCh38
rs765716370 Chr.16: 31109593-31109593 on Build GRCh38
rs774932677 Chr.16: 31109591-31109591 on Build GRCh38
rs925896516 Chr.16: 31109607-31109607 on Build GRCh38
rs757688773 Chr.16: 31109682-31109684 on Build GRCh38
rs777686530 Chr.16: 31109549-31109549 on Build GRCh38
rs138821043 Chr.16: 31109564-31109564 on Build GRCh38
rs910988235 Chr.16: 31109626-31109629 on Build GRCh38
rs751764506 Chr.16: 31109625-31109625 on Build GRCh38
rs935912612 Chr.16: 31109613-31109613 on Build GRCh38
rs141938310 Chr.16: 31109577-31109577 on Build GRCh38
rs746246063 Chr.16: 31109687-31109688 on Build GRCh38
rs779349318 Chr.16: 31109685-31109686 on Build GRCh38
rs1055766387 Chr.16: 31109645-31109645 on Build GRCh38
rs762352413 Chr.16: 31109592-31109592 on Build GRCh38
rs771599293 Chr.16: 31109588-31109588 on Build GRCh38
rs145138361 Chr.16: 31109553-31109553 on Build GRCh38

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