ZMP
VPS13B (3 of 5)
Ensembl ID:
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 |
---|---|---|---|
sa36275 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa36275
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
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)
KASP Sequence:
None
Flanking Sequence:
TACTAAACCAATCGGAGGAGCCGCTGAGCTGGTGTCACAGACGGGCTACG[G/A]TACACACACACACACACACACAGCAGAGAGAGAGAGTGTCTGTGTGAGAG
Long Flanking Sequence:
TGATGCTGTGTGTGTGTAGGAACGCTGACGTCCATCACGAATCTGGCCACGAGTCTGGCGCGTAACATGGACCGGCTGTCGCTGGACGATGAGCACTACACGCGGCAGGAGGAGTGGCGGCGGCAGCTGCCCGAAACACTGGGAGACGGACTGAGACAGGGGCTGTCCAGACTGGGCATCAGCCTGCTGGGTGAGACACACACACACACACACGCACACACACACACACACACACACGCACACACACACACACATATGCACACTGTTCTATCCTTCTGAGACTGACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGGAGCGGTCGCAGGAATCGTGGATCAGCCCATGCAGACGTTCACTCGTACGCTGGAGCTGCCAAACTCTGCGAGCAGCGCGGCCCGCGGCGTCATCTCCGGCGTGGGGAAAGGCATTGTGGGAGTTTTTACTAAACCAATCGGAGGAGCCGCTGAGCTGGTGTCACAGACGGGCTACG[G/A]TACACACACACACACACACACAGCAGAGAGAGAGAGTGTCTGTGTGAGAGTTTCTCTAATTGTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGCAGGCCTCCTCCATGGCGCAGGACTCTGGCAGCTCCCTAAACAGCTCCACCAGCCGACTACAAGCGATCCGCCGACGCCGCTAACAGCAGCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNTCGCTCAATATTTAATAATAATATTAATAATAATACATTTTATTTAAAGTGTCACGAAGCACCAGAACACATGTGTTGAGCTGTTGACAGTGGTATATGTGTCCCAC
Associated Phenotype:
Not determined