ZMP
atp6v1a
Ensembl ID:
ZFIN ID:
Human Orthologue:
ATP6V1A
Human Description:
ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A [Source:HGNC Symbol;Acc:851]
Mouse Orthologue:
Atp6v1a
Mouse Description:
ATPase, H+ transporting, lysosomal V1 subunit A Gene [Source:MGI Symbol;Acc:MGI:1201780]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa24491 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
This allele has been removed from public view.
Allele Name:
sa30088
Status:
Less stringent filtering
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:
n/a
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000114661 | Nonsense | 17 | 617 | 1 | 14 |
Genomic Location (Zv9):
Chromosome 24 (position 21779031)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 21026160 |
| GRCz11 | 24 | 21170579 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAATGGACTTCTCCAAGTTGGCCAAAATCCGAGATGAGGAGCGGGAGGGA[C/T]AATTTGGATATGTGCATGGTGTATCTGGACCTGGTTAGTACAAATAAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24491
Status:
Available for shipment
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:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000114661 | Essential Splice Site | 239 | 617 | 6 | 14 |
Genomic Location (Zv9):
Chromosome 24 (position 21772531)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 21019660 |
| GRCz11 | 24 | 21164079 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACATCTGATACTTCTACAGCTATTTTATGTTTTATTTTTTGTTTCACCA[G/A]ATGTGTGCAAGGAGGAACCACAGCAATCCCCGGTGCTTTCGGATGTGGTA
Associated Phenotype:
Not determined
Mutation Details
This allele has been removed from public view.
Allele Name:
sa30087
Status:
Less stringent filtering
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:
n/a
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000114661 | Nonsense | 522 | 617 | 12 | 14 |
Genomic Location (Zv9):
Chromosome 24 (position 21766375)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 21013504 |
| GRCz11 | 24 | 21157923 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATAAGATCACCCTGGAAGTTGCCAAGCTGATCAAGGATGATTTCTTGCAA[C/T]AAAATGGATACACACCGTATGACAGGTATTGCACATGTGCTGCATAAGCT
Associated Phenotype:
Not determined