Product Details

Primer Sequences
Log in to view
Primer Chromosome Location
Chr.6: 80272956-80273181 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
1446101 c.970C>A p.R324R Chr.6: 80273153-80273153 on Build GRCh38
301754 c.996C>A p.P332P Chr.6: 80273179-80273179 on Build GRCh38
1672585 c.970C>T p.R324* Chr.6: 80273153-80273153 on Build GRCh38
5421614 c.965C>T p.T322I Chr.6: 80273148-80273148 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs759198446 Chr.6: 80273109-80273109 on Build GRCh38
rs779150907 Chr.6: 80273154-80273154 on Build GRCh38
rs996013555 Chr.6: 80273048-80273048 on Build GRCh38
rs767009413 Chr.6: 80273116-80273116 on Build GRCh38
rs931968192 Chr.6: 80273081-80273081 on Build GRCh38
rs890103324 Chr.6: 80273116-80273117 on Build GRCh38
rs765905155 Chr.6: 80273087-80273087 on Build GRCh38
rs398124604 Chr.6: 80273157-80273157 on Build GRCh38
rs372013960 Chr.6: 80273144-80273144 on Build GRCh38
rs973553024 Chr.6: 80273052-80273052 on Build GRCh38
rs764707388 Chr.6: 80273152-80273152 on Build GRCh38
rs398124602 Chr.6: 80273134-80273134 on Build GRCh38
rs559388556 Chr.6: 80272997-80272997 on Build GRCh38
rs753170463 Chr.6: 80273143-80273143 on Build GRCh38
rs565119070 Chr.6: 80273096-80273096 on Build GRCh38
rs1050398834 Chr.6: 80273085-80273085 on Build GRCh38
rs528490227 Chr.6: 80273006-80273006 on Build GRCh38
rs398124603 Chr.6: 80273153-80273153 on Build GRCh38
rs9341811 Chr.6: 80272984-80272984 on Build GRCh38
rs748534284 Chr.6: 80273102-80273102 on Build GRCh38
rs869312131 Chr.6: 80273147-80273147 on Build GRCh38
rs545413403 Chr.6: 80273069-80273069 on Build GRCh38

View Full Product Details