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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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VPS13B (3 of 5)
- Ensembl ID:
- ENSDARG00000086406
- Description:
- vacuolar protein sorting 13 homolog B (yeast) [Source:HGNC Symbol;Acc:2183]
- Human Orthologue:
- VPS13B
- Human Description:
- vacuolar protein sorting 13 homolog B (yeast) [Source:HGNC Symbol;Acc:2183]
- Mouse Orthologue:
- Vps13b
- Mouse Description:
- vacuolar protein sorting 13B (yeast) Gene [Source:MGI Symbol;Acc:MGI:1916380]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa36275 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa36275
- 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 |
|---|---|---|---|---|---|
| ENSDART00000125810 | Essential Splice Site | 100 | 119 | 2 | 3 |
- Genomic Location (Zv9):
- Chromosome 16 (position 57883301)
- KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TACTAAACCAATCGGAGGAGCCGCTGAGCTGGTGTCACAGACGGGCTACG[G/A]TACACACACACACACACACACAGCAGAGAGAGAGAGTGTCTGTGTGAGAG
- Associated Phenotype:
- Not determined
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