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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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trub1
- Ensembl ID:
- ENSDARG00000053805
- ZFIN ID:
- ZDB-GENE-080723-73
- Description:
- probable tRNA pseudouridine synthase 1 [Source:RefSeq peptide;Acc:NP_001122159]
- Human Orthologue:
- TRUB1
- Human Description:
- TruB pseudouridine (psi) synthase homolog 1 (E. coli) [Source:HGNC Symbol;Acc:16060]
- Mouse Orthologue:
- Trub1
- Mouse Description:
- TruB pseudouridine (psi) synthase homolog 1 (E. coli) Gene [Source:MGI Symbol;Acc:MGI:1919383]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa27977 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa27977
- 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:
- G > A
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000075889 | Essential Splice Site | 96 | 290 | 3 | 8 |
- Genomic Location (Zv9):
- Chromosome 12 (position 31615105)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 12 29924448 GRCz11 12 30039350 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GAATCGGTGAAGGAACAAAAATGCTCACAACAATGCTTGCAGGTTCAAAG[G/A]TAAGTATTTTCAGGGTCACATTAGGTTTATGTTATTCTGCAGTTGTCATT
- Associated Phenotype:
- Not determined
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