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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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bckdk
- Ensembl ID:
- ENSDARG00000016904
- ZFIN ID:
- ZDB-GENE-021204-1
- Description:
- [Source:RefSeq peptide;Acc:NP_998225]
- Human Orthologue:
- BCKDK
- Human Description:
- branched chain ketoacid dehydrogenase kinase [Source:HGNC Symbol;Acc:16902]
- Mouse Orthologue:
- Bckdk
- Mouse Description:
- branched chain ketoacid dehydrogenase kinase Gene [Source:MGI Symbol;Acc:MGI:1276121]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa38517 | Nonsense | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa38517
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2018.
- Mutation:
- T > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000023676 | Nonsense | 186 | 428 | 5 | 11 |
- Genomic Location (Zv9):
- Chromosome 5 (position 64588887)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 5 60841547 GRCz11 5 61526268 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TAAGATGGTAAAACAGCTTCTTGATGATCACAAGGATGTTGTCACCATGT[T/A]AGCTGAAGGATTCAGGGAATGTCGTAAACACATATTGGTGAGATTTTAAA
- Associated Phenotype:
- Not determined
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