ZMP
atp6v1d
Ensembl ID:
ZFIN ID:
Description:
V-type proton ATPase subunit D [Source:RefSeq peptide;Acc:NP_001161426]
Human Orthologue:
ATP6V1D
Human Description:
ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D [Source:HGNC Symbol;Acc:13527]
Mouse Orthologue:
Atp6v1d
Mouse Description:
ATPase, H+ transporting, lysosomal V1 subunit D Gene [Source:MGI Symbol;Acc:MGI:1921084]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37172 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37172
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000023488 | Essential Splice Site | 175 | 248 | 8 | 9 |
Genomic Location (Zv9):
Chromosome 20 (position 51428432)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 51280501 |
| GRCz11 | 20 | 51093721 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATACAGCTTTAAGAACAGGTACTAATGTGACTCTTGTGTTTTGTCCTCGC[A/T]GTGATTATTCCCAGAATTGAGCGCACTCTCACCTACATCATTACTGAGCT
Long Flanking Sequence:
CCGTTAGTTTGAGGTAAAAATAGTGAGATTTGCATCGCATTTTTGATTATTAAGAAGCCATTTCTTAAAATAATTTAAAAGATACACGTTCTCTAACAGATTGTGGTATCAAATTACACAGGACAGGTGCATAAAATCTGAGGGGCTTGCCATAAGTTGTTGAAATAAAAGTTTTTTTTTTTGGTGTAGCAAAATTTCAGTCAATATGTGCTGTAATTAATTCTCCTACAGACCTCTTTTGTGACTCTGGACGAGGCTATAAAGATCACGAACCGGCGTGTGAATGCCATCGAGCATGGTGAGATCTCACTCACTCACACACACACACACACACACACACACACACACACACACACACACACAAACACATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATGAAGCTTCATACAGCTTTAAGAACAGGTACTAATGTGACTCTTGTGTTTTGTCCTCGC[A/T]GTGATTATTCCCAGAATTGAGCGCACTCTCACCTACATCATTACTGAGCTGGATGAGCGAGAGAGAGAGGAGTTTTACAGGTGAGATCGCAAATGCAATATTAAAATGTGTGTGTGTGATATATGTATGTATATATATATATATATATATGTATGTATAAATAAAAACGAATTGTCTTTGTCATGATGACAGCACATAATATTTGACCAGATATTCTTCAAGACACTAGTATTCAGCTTAAAGTGACATTTAAAGGCTTAACTAGGGTAATTAGGGTAAAGTTAGGGTAATTAGGCAAGTCATTGTATAGCAGTGGTTTGTTCTGTAGACTATCCAAAACAAATATTGCTTAAGGGGGCGAATAATATTAAGCTTAAAATGGCTTTTAAAAATAGAGGAAAAAATATTACTGGAAATACTGTGAAAAATTCCATAATCGGTTAAATATCACTTAATAAAGTGCACAAGAGGGCAACATTTGCTCTCAACTAATGCATGAA
Associated Phenotype:
Not determined