ZMP
atp6ap2
Ensembl ID:
ZFIN ID:
Description:
ATPase, H+ transporting, lysosomal accessory protein 2 [Source:RefSeq peptide;Acc:NP_998188]
Human Orthologue:
ATP6AP2
Human Description:
ATPase, H+ transporting, lysosomal accessory protein 2 [Source:HGNC Symbol;Acc:18305]
Mouse Orthologue:
Atp6ap2
Mouse Description:
ATPase, H+ transporting, lysosomal accessory protein 2 Gene [Source:MGI Symbol;Acc:MGI:1917745]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa37444 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37444
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 |
---|---|---|---|---|---|
ENSDART00000016873 | Essential Splice Site | 271 | 374 | 8 | 9 |
ENSDART00000125561 | Essential Splice Site | 283 | 386 | 8 | 9 |
Genomic Location (Zv9):
Chromosome 22 (position 11234791)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 11094959 |
GRCz11 | 22 | 11124641 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAATAATATAAACAGTGCTTCTGTTTTTAACGCTTTCGTTCATGTGTGAA[G/A]TTTGCAGATGACGTCTCCAGTGTTTACGGAAACAATGCGGTTGTAGAAGT
Long Flanking Sequence:
TGAACACAGAAACAGGCAACGACAAAACAACAGAATGAACAGTTAAACAGGGTCTTTTTTTTTAAAACACGACGCAATAAAGACAAGCACAGGTACAACAGAGGCTAGAGGGACTGGTGAGTGGTCTTGGCCTATTGGAAATGATGTCAGAGTGACGTGACAGGGGAGAAATGATTGACAGGATGATTGACCAATGACCGGATCTGGGAAAGAACAGAGCAAGGGATTGAGAGAGAGAGGAAAAATACAAACAGGGCCCAAAACAAATGCTTTTGACAAAATTACTTACATATTTAGTTTTATTTAAATATTAGAATTTTTATTTACTAGGAACATAAGATCATTGATTCTTTTGTCGTTATTCATAAAATGTCATTCATTAAATTAATAAGAAGATTTCTCCACTCAGATTTCACATGTTATGTGTGTGTAATTTATACTGTTAGTCGTGAATAATATAAACAGTGCTTCTGTTTTTAACGCTTTCGTTCATGTGTGAA[G/A]TTTGCAGATGACGTCTCCAGTGTTTACGGAAACAATGCGGTTGTAGAAGTCGTGACCGTGAAGACTTTTGAAGTCCCTCTGACCAGAAAATCACGCTCCATCCTCGAGTCCAAGCAAATGGTAAGTAAAAACCTAAACATTTCAGCATGCGAAAGCTAAGTGTTCCTAAAAATGTGTTGATTTTGGAGCATTATTTCATTCATCAGGGCTCAAGAAGAACCAATCGATTCAAGAACGTGCCTGTAAGACATTAAATGTTGAGCAGTAGATTTCATGTAGCGTTTAGCAAATGCTTTCCAAAGTCTTGCTTGGCTAAAGGGTTAGCTAGCACTAGCATGTTTTAGTTTTGTGTTGTTAGAAAAATGGTTTCACCCTTATTGATTATCACCTTTAGAGCCAGTATCCTCATTGTTTTTCTTCTAAACAAAGAGTTTGCAGAACAGTAGAAACCCCCCACCGTTGACCTGCTCCTGAACGCTGACCTACTTTTTAACACCAGC
Associated Phenotype:
Not determined