Product Details

Primer Sequences
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Primer Chromosome Location
Chr.6: 80272905-80273407 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
270688 c.971G>A p.R324Q Chr.6: 80273154-80273154 on Build GRCh38
1446102 c.1016C>T p.S339L Chr.6: 80273199-80273199 on Build GRCh38
1446101 c.970C>A p.R324R Chr.6: 80273153-80273153 on Build GRCh38
5177003 c.1028C>T p.S343F Chr.6: 80273211-80273211 on Build GRCh38
1081953 c.1005C>T p.G335G Chr.6: 80273188-80273188 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs139758968 Chr.6: 80273339-80273339 on Build GRCh38
rs767009413 Chr.6: 80273116-80273116 on Build GRCh38
rs750591348 Chr.6: 80273234-80273234 on Build GRCh38
rs533298369 Chr.6: 80273161-80273161 on Build GRCh38
rs890103324 Chr.6: 80273116-80273117 on Build GRCh38
rs398124604 Chr.6: 80273157-80273157 on Build GRCh38
rs372013960 Chr.6: 80273144-80273144 on Build GRCh38
rs773855234 Chr.6: 80273200-80273200 on Build GRCh38
rs973553024 Chr.6: 80273052-80273052 on Build GRCh38
rs557193350 Chr.6: 80273340-80273340 on Build GRCh38
rs769446376 Chr.6: 80273172-80273172 on Build GRCh38
rs138670449 Chr.6: 80273170-80273170 on Build GRCh38
rs113577567 Chr.6: 80273308-80273308 on Build GRCh38
rs759040971 Chr.6: 80273208-80273208 on Build GRCh38
rs753170463 Chr.6: 80273143-80273143 on Build GRCh38
rs761765227 Chr.6: 80273186-80273186 on Build GRCh38
rs148902222 Chr.6: 80273215-80273215 on Build GRCh38
rs150651504 Chr.6: 80273321-80273321 on Build GRCh38
rs1042771488 Chr.6: 80273195-80273195 on Build GRCh38
rs755178361 Chr.6: 80273264-80273264 on Build GRCh38
rs761138547 Chr.6: 80273214-80273214 on Build GRCh38
rs398124561 Chr.6: 80273199-80273199 on Build GRCh38
rs869312131 Chr.6: 80273147-80273147 on Build GRCh38
rs759198446 Chr.6: 80273109-80273109 on Build GRCh38
rs879506080 Chr.6: 80272974-80272974 on Build GRCh38
rs931968192 Chr.6: 80273081-80273081 on Build GRCh38
rs34844836 Chr.6: 80273321-80273322 on Build GRCh38
rs758386968 Chr.6: 80273241-80273241 on Build GRCh38
rs570748969 Chr.6: 80273192-80273192 on Build GRCh38
rs116771533 Chr.6: 80273303-80273303 on Build GRCh38
rs774981415 Chr.6: 80273213-80273213 on Build GRCh38
rs141838243 Chr.6: 80273267-80273267 on Build GRCh38
rs73463529 Chr.6: 80273248-80273248 on Build GRCh38
rs796051939 Chr.6: 80273205-80273205 on Build GRCh38
rs539676910 Chr.6: 80273315-80273315 on Build GRCh38
rs563589042 Chr.6: 80272938-80272938 on Build GRCh38
rs749246466 Chr.6: 80273181-80273181 on Build GRCh38
rs772951591 Chr.6: 80273179-80273179 on Build GRCh38
rs779150907 Chr.6: 80273154-80273154 on Build GRCh38
rs534395254 Chr.6: 80273313-80273313 on Build GRCh38
rs765905155 Chr.6: 80273087-80273087 on Build GRCh38
rs936491510 Chr.6: 80272963-80272963 on Build GRCh38
rs776270090 Chr.6: 80273206-80273206 on Build GRCh38
rs1040842793 Chr.6: 80273169-80273169 on Build GRCh38
rs973988775 Chr.6: 80273329-80273329 on Build GRCh38
rs926058880 Chr.6: 80273324-80273324 on Build GRCh38
rs764707388 Chr.6: 80273152-80273152 on Build GRCh38
rs751761225 Chr.6: 80273252-80273252 on Build GRCh38
rs559388556 Chr.6: 80272997-80272997 on Build GRCh38
rs565119070 Chr.6: 80273096-80273096 on Build GRCh38
rs953605887 Chr.6: 80273361-80273361 on Build GRCh38
rs16891628 Chr.6: 80273298-80273298 on Build GRCh38
rs528490227 Chr.6: 80273006-80273006 on Build GRCh38
rs931831898 Chr.6: 80273366-80273366 on Build GRCh38
rs748534284 Chr.6: 80273102-80273102 on Build GRCh38
rs904277226 Chr.6: 80273197-80273197 on Build GRCh38
rs398124560 Chr.6: 80273189-80273189 on Build GRCh38
rs996013555 Chr.6: 80273048-80273048 on Build GRCh38
rs762419044 Chr.6: 80273223-80273223 on Build GRCh38
rs960268058 Chr.6: 80273295-80273295 on Build GRCh38
rs772386574 Chr.6: 80273188-80273189 on Build GRCh38
rs762215900 Chr.6: 80273321-80273321 on Build GRCh38
rs527503644 Chr.6: 80273353-80273357 on Build GRCh38
rs398124602 Chr.6: 80273134-80273134 on Build GRCh38
rs1050398834 Chr.6: 80273085-80273085 on Build GRCh38
rs398124603 Chr.6: 80273153-80273153 on Build GRCh38
rs9341811 Chr.6: 80272984-80272984 on Build GRCh38
rs112736231 Chr.6: 80272977-80272977 on Build GRCh38
rs569868468 Chr.6: 80273226-80273226 on Build GRCh38
rs545413403 Chr.6: 80273069-80273069 on Build GRCh38

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