ZMP
aqp4
Ensembl ID:
ZFIN ID:
Description:
aquaporin-4 [Source:RefSeq peptide;Acc:NP_001003749]
Human Orthologue:
AQP4
Human Description:
aquaporin 4 [Source:HGNC Symbol;Acc:637]
Mouse Orthologue:
Aqp4
Mouse Description:
aquaporin 4 Gene [Source:MGI Symbol;Acc:MGI:107387]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa23663 | Essential Splice Site | Available for shipment | Available now |
| sa17194 | Nonsense | Available for shipment | Available now |
| sa32284 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa23663
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 |
|---|---|---|---|---|---|
| ENSDART00000011287 | Essential Splice Site | 11 | 320 | 1 | 5 |
| ENSDART00000136130 | None | None | 309 | None | 4 |
Genomic Location (Zv9):
Chromosome 20 (position 18209351)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 18263851 |
| GRCz11 | 20 | 18163434 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGTCAGTCTGAGGAGGAATGACAAGCTGTGGAGCCCTGGACACATTCAG[G/A]TGAGTTCAAGAGCAAAAGTGCTGGATACTCACATGATCAGTAGCATACAT
Long Flanking Sequence:
GAAGACTAATAAGACTGGTGTCTAAGTGACTAATAGATAGATAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGACAGACAGTCTGGTGTAACTGTGTTGTGAGTGACTGAATGGGGTGTGAGTTGTGTGAAATGTGTCAGTGCTCTAGTCAGCGCTGTCAGATCAGTTGCTCAGACAGCTTCATATCTCTGTGCTGTGGTCTCTCTGCTCTGATTTGACCATGAAGAGCCGGTAACACGACACTGTGAGAGAAGCACACTGAGCTGACAGTCAGTCTGAGGAGGAATGACAAGCTGTGGAGCCCTGGACACATTCAG[G/A]TGAGTTCAAGAGCAAAAGTGCTGGATACTCACATGATCAGTAGCATACATAGTTCTGCTTGTCTGGTTGGTTAGTCTGTAAAAAATAAAACAACTACACTTTTAAAATATGTTCTGGAAATGTACAGTTCAAAAAAGAATTATTCCTTTTGTGAAAAGTACATATTAAACAATATATTTTGAACTATAACACTAAAAATAAATTTTCTTGCTAAATAAATTCAATTAAACTTTGTTACTTTGTTTTGAGAAATAATTCTCATTTTGTATCTGCAGAAAAAAAAGTTCAGAATAGACTTGACTTGGTTTGATTCCTTTGTTATAAAATAATATTGCATTTGTGATGAAATATTATAAACTTGATTGTATTTGGTTAAGAAACTTTCTTATGATTTGATATTAACCAATGTTTCTCAAGTTTATTGAAAATGGAAAATGTTTTTTTTTTTATTATTATGAGCTCGCTTATAAATGTAGGAGGTTCATACACTGGTCCCTCTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17194
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000011287 | Nonsense | 137 | 320 | 2 | 5 |
| ENSDART00000136130 | Nonsense | 126 | 309 | 1 | 4 |
Genomic Location (Zv9):
Chromosome 20 (position 18214695)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 18269195 |
| GRCz11 | 20 | 18168778 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATTTGTTGGCACAGTGTTTGGGGGCAGTAGTGGGAGCAGCCATCTTGTAT[G/T]GAGTGACACCGGCRTCAGTGAGAGGAGGAATGGGAGTGACGTCTGTGAGT
Long Flanking Sequence:
AGAAAATGAATGAATGAATGAATCTTACACTATTCCTAAGTAAATTAAGTGTGTTTTTGTATATGTTTTTTCTCATAGACTCGTAGTCTTATAAATATATTTCCTCTATTTTTGTCCTTTTAAGGAGGTGCGTGTCGTCTTGCTCATGCAATAACAGTATCATGGCAGCCTTTAAAGGTGTGTGGACTCAGGAATTCTGGCGGGCGGTTTCCGGAGAGTTTTTGGCCATGATAATATTCGTGCTGCTCAGTCTTGGATCCACCATCAACTGGGGAGCAAAACAGGAGAACCCTCCACCCGCCGACCTTGTCCTCATCTCCCTTTGCTTTGGCTTGTCCATCGCAACCCTCGTCCAGTGTTTCGGGCACATCAGCGGCGCCCACATCAACCCGGCCGTTACTGTGGCAATGGTTGCTACACGGAAGCTGAGTCTGGCGAAGGGTGTGTTTTATTTGTTGGCACAGTGTTTGGGGGCAGTAGTGGGAGCAGCCATCTTGTAT[G/T]GAGTGACACCGGCGTCAGTGAGAGGAGGAATGGGAGTGACGTCTGTGAGTATTGATAAAAACAATGAGAAAATTCTGCTAAAAATGGTTACTCTTTATTTTGATGGCCTGCCTTGAGGCATTTTCTACTAGAGACCAGTGTTGGGGAAAGTTACTTTAGAAAGTAATGCATTACAATGTTGTGTTACCCCCCCCCCCCCCCCCCCCCCCCCGCAAAAAAAAAGTAACTAGCTGCTTTACCTTTACCTCTGTGTTGAATTTGCTTTACTTTTCATTACCTGGCTGAGGCTTGATCTCTTTTAGATCTTTGTGTTTTAAAAAGAGGAGCTCTGCTATTAACAGCACACTATATAACCTACATTTACCTTTAAAAAAAACACATCAAAAACTAATTATATTTTAGGATAATGTTATATGAGAACGTCCTTACCCCAGAGCTATACATGCCTTGCATGGTTTCTGCTACATTCATTGTTCCATGGCAGGGTCCCGCCATGGCTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32284
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000011287 | Nonsense | 229 | 320 | 4 | 5 |
| ENSDART00000136130 | Nonsense | 218 | 309 | 3 | 4 |
Genomic Location (Zv9):
Chromosome 20 (position 18222660)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 18277160 |
| GRCz11 | 20 | 18176743 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTATGAATCCAGCTCGCTCTTTTGGTCCCGCAGTCATCATGGTAAAATG[G/A]CAGGACCATTGGGTAAGATTTTCACAATATCTTCTGCTTGTAAATAAACA
Long Flanking Sequence:
AATACATTCATTTATTCATTTTCTTTTTGGCTTAGTCCCTTTATTAATCTGGGGTCGCCACAGCGGAATGAACCGACAACTTATCCAGCATAAGTTTAACGCAGTGGATGCCCTTCCAGCTGCAACCTGGGAAACACCATACACTTCCATTCACACACATACACTATGGACAATCAAACTCCACACAGAAATGCCAACTGACCCAGCCGAGGCTCAAACCAGTGATCTTCTTGCGGTTAGGCGAGAGCCCTACCCACTGTGCCACCGTGCTGCCCCTGGATGATAATAAATAATCTGTTCCTATAATCATAATTTGTGCTAAATAAAATTAAAAAAAAATTTGTGGCAAAATTAACATGGAACTGCAATGAATTCTATTTGTTTTGGCACATATTTAATTTTGTTTTCAATCAGTTTGTTTGTGCATTTCAGATCCCGTACACTGGGGCCAGTATGAATCCAGCTCGCTCTTTTGGTCCCGCAGTCATCATGGTAAAATG[G/A]CAGGACCATTGGGTAAGATTTTCACAATATCTTCTGCTTGTAAATAAACATTGCAAAGTTCTTTCTAGTTGCTTCATGGATATTCATGTGCGTAAAGGTCAGCAAGGCCTTTGCAACTGTGATTGATTAAAAGTGAACTTGACAACAATCAGATTCGATGCCAGCACTTTTTTAAGACGAACATTTTGGCTTTGTTTTACTCTTGCAAAGGTGACTGAACTATATTTGGATCAAGATGATGTTTATCTCTGACCGACAACAGGCCTTTGGCATGAAGCTCAATGCTGTGATTAATATTCTATATATCAGTGTAGGGTGACCAGTCATCCATTTTGCTAGGACAGTCCTGCGTTACAGCTCTATTTTTAGTGTCCTGACTCCCAATGGGATCGAATTTGGTACTGTATATTCCTAAAAATCTGCACTTCACCTTCCCCTTTACTGAGTTTTGCACACACTTTGGGTTTGGTCTTTTGAAAGTGTGACAAACACACCAGACC
Associated Phenotype:
Not determined