ZMP

BCKDHB (2 of 2)

Ensembl ID:

ENSDARG00000014676

Description:

branched chain keto acid dehydrogenase E1, beta polypeptide [Source:HGNC Symbol;Acc:987]

Human Orthologue:

BCKDHB

Human Description:

branched chain keto acid dehydrogenase E1, beta polypeptide [Source:HGNC Symbol;Acc:987]

Mouse Orthologue:

Bckdhb

Mouse Description:

branched chain ketoacid dehydrogenase E1, beta polypeptide Gene [Source:MGI Symbol;Acc:MGI:88137]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa22742	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa22742

Status:

Available for shipment
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Availability:

Order Allele From ZIRC

Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000082071	Nonsense	340	374	8	8

Genomic Location (Zv9):

Chromosome 16 (position 6313200)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	16	5179584

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGGACAAAGAGACCGTCTGCAAGGTACCGTCTAAACAATTCTTCATCCAG[C/T]GAGAGTTTATCCCTGTGATCTTCTGTCTTGAATTACAAAGGTGTATTAGG

Long Flanking Sequence:

AACAGATTTTAATGCTTTAATAAGCTTGCATTAAGAAAATCTGCAAAAGGGAAATTTATTTTTATGTCTGGATATGGTGAACACTTTGATGTAATAACAACACTACATGTACTTTGCCAGTGTTGTGTTTGTGCTTTCTTTAATATACACTTCCCTAAACGCATACTGTGTGCACAAATGAAGTCATATTTTTCAGATGTTTACATGGACTTCAAAAACTTGACGTGTTTTCAGTCACTAAAAGGCCATTGTCGTGTAAATGAAAAGGCAAAACATATAAAAAGTTCCCTGTTTTTGGCTGAAAAATTGTGTGAACGGCGCCTCAGTCTTAAGTCTCATTGTCATTTGCTGTGGTGCTGCAGATTCATGTGATGCGGGAGGTTGCAGCCATGGCTCAGGAAAAGCTGGGTGTCTCCTGTGAGCTCATCGACCTTCAGACCATCCTACCCTGGGACAAAGAGACCGTCTGCAAGGTACCGTCTAAACAATTCTTCATCCAG[C/T]GAGAGTTTATCCCTGTGATCTTCTGTCTTGAATTACAAAGGTGTATTAGGGGTGTGAATCTTCAGGGAGTTCACCCTCTGATTCAAGTTCTGGGAGTCACGATTTGATTCCATTTTTGATTGACCCATTTTTCTCCTATTTCTTTGGCTGTGCAAATACATGAACAACTTTATTTTTGCAATTTTAAAAGTGCAGTAGTTGATCTGCCAAAATGCTAATCGGTTAGCATATTAGCTTTGGACGGCAGGGGAGGGACTTTGTTTCAAAGCCACACCTCCTGAAATCGGGAACACGACAGCAGACAACCCACTAGTTCATGTATTTCGCCAGTTAGAAGTGTATGTAGTGTTTGGCCGGCGACGTGCAGGAATTACACTTATTACCAAGCCACACTTAGATGCTATTTCATAGCGAATATTCAGAGTAGCGGTAAACCATTTCGGGAGCGCGTCACAAGTTGTCTTTGCTCAGAAATTACCCAATGTGAATATAAAACCAAC

Associated Phenotype:

Not determined