Product Details

Primer Sequences
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Primer Chromosome Location
Chr.16: 31111922-31112167 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
6002324 c.1130C>T p.A377V Chr.16: 31112156-31112156 on Build GRCh38
5384783 c.1079C>T p.S360L Chr.16: 31112012-31112012 on Build GRCh38
6900377 c.1100G>A p.G367D Chr.16: 31112126-31112126 on Build GRCh38
5802034 c.1038delC p.L348fs*>65 Chr.16: 31111971-31111971 on Build GRCh38
6002202 c.1094+8C>G p.? Chr.16: 31112035-31112035 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs778430202 Chr.16: 31112006-31112006 on Build GRCh38
rs748188451 Chr.16: 31112060-31112060 on Build GRCh38
rs577985544 Chr.16: 31112009-31112009 on Build GRCh38
rs773183825 Chr.16: 31112066-31112066 on Build GRCh38
rs755584594 Chr.16: 31112005-31112005 on Build GRCh38
rs769790766 Chr.16: 31112061-31112061 on Build GRCh38
rs750916023 Chr.16: 31112026-31112026 on Build GRCh38
rs759341581 Chr.16: 31112099-31112099 on Build GRCh38
rs758812308 Chr.16: 31112027-31112027 on Build GRCh38
rs771457546 Chr.16: 31112092-31112092 on Build GRCh38
rs770711315 Chr.16: 31112087-31112087 on Build GRCh38
rs376691315 Chr.16: 31111978-31111978 on Build GRCh38
rs780604144 Chr.16: 31112034-31112034 on Build GRCh38
rs372199017 Chr.16: 31111954-31111954 on Build GRCh38
rs922590624 Chr.16: 31112054-31112054 on Build GRCh38
rs752324023 Chr.16: 31112103-31112103 on Build GRCh38
rs959757913 Chr.16: 31111990-31111990 on Build GRCh38
rs139044149 Chr.16: 31112131-31112131 on Build GRCh38
rs747227092 Chr.16: 31112037-31112037 on Build GRCh38
rs199683653 Chr.16: 31112025-31112025 on Build GRCh38
rs142542453 Chr.16: 31111999-31111999 on Build GRCh38
rs918369917 Chr.16: 31111997-31111997 on Build GRCh38
rs767003668 Chr.16: 31112001-31112001 on Build GRCh38
rs111551851 Chr.16: 31112142-31112142 on Build GRCh38
rs747282203 Chr.16: 31111960-31111960 on Build GRCh38
rs531591891 Chr.16: 31112004-31112004 on Build GRCh38
rs776835457 Chr.16: 31111971-31111971 on Build GRCh38
rs780549207 Chr.16: 31112141-31112141 on Build GRCh38
rs935378287 Chr.16: 31112067-31112067 on Build GRCh38
rs769054677 Chr.16: 31112048-31112048 on Build GRCh38
rs148848087 Chr.16: 31111980-31111980 on Build GRCh38
rs546815456 Chr.16: 31111964-31111964 on Build GRCh38
rs756189742 Chr.16: 31112149-31112149 on Build GRCh38
rs769709880 Chr.16: 31111976-31111976 on Build GRCh38
rs781279805 Chr.16: 31112058-31112058 on Build GRCh38
rs781432488 Chr.16: 31112146-31112146 on Build GRCh38
rs11540063 Chr.16: 31111966-31111966 on Build GRCh38
rs560919863 Chr.16: 31111972-31111972 on Build GRCh38
rs761640047 Chr.16: 31111975-31111975 on Build GRCh38
rs534671893 Chr.16: 31111992-31111992 on Build GRCh38
rs200213677 Chr.16: 31111991-31111991 on Build GRCh38
rs767598142 Chr.16: 31111950-31111951 on Build GRCh38
rs772595672 Chr.16: 31111947-31111947 on Build GRCh38
rs201614853 Chr.16: 31112130-31112130 on Build GRCh38
rs748371469 Chr.16: 31112147-31112147 on Build GRCh38
rs760182220 Chr.16: 31112114-31112114 on Build GRCh38
rs762920594 Chr.16: 31112070-31112070 on Build GRCh38
rs759040301 Chr.16: 31112137-31112137 on Build GRCh38
rs767131632 Chr.16: 31112101-31112101 on Build GRCh38

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