ZMP
ATP6AP1L (2 of 2)
Ensembl ID:
Description:
ATPase, H+ transporting, lysosomal accessory protein 1-like [Source:HGNC Symbol;Acc:28091]
Human Orthologue:
ATP6AP1L
Human Description:
ATPase, H+ transporting, lysosomal accessory protein 1-like [Source:HGNC Symbol;Acc:28091]
Mouse Orthologue:
Atp6ap1l
Mouse Description:
ATPase, H+ transporting, lysosomal accessory protein 1-like Gene [Source:MGI Symbol;Acc:MGI:3648665]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa21977 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa21977
Status:
Available for shipment
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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 |
|---|---|---|---|---|---|
| ENSDART00000130573 | Essential Splice Site | 127 | 181 | 4 | 5 |
Genomic Location (Zv9):
Chromosome 11 (position 43614501)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 42244920 |
| GRCz11 | 11 | 42535482 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAACACTGACCACGCAGCAAACTGGCACATCACGTTCACAGACTTCCAG[G/A]TTGGCAGATAACACTTTCCTTCTGTCCTCCGCTGATATTGAGAGTCGTAG
Long Flanking Sequence:
GCCAGGTTAGCATTTTACAAAATGACTGTCAATTAAATGGGCATAAAATATGACATAACAATAAATATAGTGTGCAATCTTTGTCGATATATTTAATACAATTTCTTTAAATGTAGTTCCTCTAATCTGAATCGTACATTTTGTATACTGATATTGCATGTTATTAAACTAAGTCAACTAAGCAGAACTAATTTCTAATGGCTTTTCTGACAGATAAACCCACATAACCGTCCCATATCTGTGTTTTTACCTCCAGGCTACAGATGTCAAACACGTTTTATGAGTCGGCAGGACAGAACTGGTTCACGCTCGATAACGTGCACATCCATTACAACTGGACGTACGAGGCCACGTTTAATGCCACAGATGTGTACGCGCCATCCACCAACTCATACCACTGCCAGCACGTCAGCAGCCTGCAGAAATACGACACGCTGCTGGTGCCCAGTGCCAACACTGACCACGCAGCAAACTGGCACATCACGTTCACAGACTTCCAG[G/A]TTGGCAGATAACACTTTCCTTCTGTCCTCCGCTGATATTGAGAGTCGTAGCATCGTGCGCTGTATTTTTAGTGGCTGTAATGTGGGTGTAATGTGGTTACACAAGCTTGTGGTTTGGCATTAGTCTGTATGAAATGACTGTGTGGAAGAACATGCAGAGTTTGGGTGAAATTGAATGCTGTTTACTGGGAAATTTTGAGCTTTGCCTGCAAGATCAGAATGAGGGAGGATGGATGAATAGATGAATGGATGGATGGATTAATGACAGATTAAGAGTAAATGGATGGGTGAACAGAATGAATGGTGATAGATTAATGAATGAATGGATTATATGACATGTTATATTGATGAATGGTAAATGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAAAGGTATATGAATGATGGATGGATAGATTGATTGAATGATAGATGAATGATGGATGGCTGGATGGAATTTTAGATCATAGATTAATGGATGGATGGAA
Associated Phenotype:
Not determined