ZMP
aqp1a.1
Ensembl ID:
ZFIN ID:
Description:
aquaporin 1 [Source:RefSeq peptide;Acc:NP_996942]
Human Orthologues:
AQP1, RP5-877J2.1
Human Descriptions:
aquaporin 1 (Colton blood group) [Source:HGNC Symbol;Acc:633]
cDNA FLJ51453, highly similar to Aquaporin-1 [Source:UniProtKB/TrEMBL;Acc:B4E220]
cDNA FLJ51453, highly similar to Aquaporin-1 [Source:UniProtKB/TrEMBL;Acc:B4E220]
Mouse Orthologue:
Aqp1
Mouse Description:
aquaporin 1 Gene [Source:MGI Symbol;Acc:MGI:103201]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa39746 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa32826 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa39746
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
Founder:
SL7_04_G7
KASP Assay Location:
Unknown
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000032459 | Essential Splice Site | 174 | 260 | 2 | 4 |
Genomic Location (Zv9):
Chromosome 2 (position 2894094)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 2 | 2901119 |
| GRCz11 | 2 | 2743018 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCGCTCCTCTGGCCATCGGCCTCAGTGTTTGCCTGGGACATCTGACAGCC[G/A]TGAGTAATCAGCATTCACACTTCCACCGCTCTATTTTCTTTACCACGAGC
Long Flanking Sequence:
GCAACCCCAGATTAATAAAGGGACTAAGCTGAAATGAAAATGAATGAATGAAAAAATGATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATGCGAAATTTGCAGATGATAAAAGTAATATTCTGTGTTGATTAAAAAATTGTAAGATAAAAAATAATAACAATAATAAACAAATATTAATAACAATATATAAAATAGTAATAATAATAATAATATTTAATAATAATTCAAATCAATTCATCTTTTTTTTTTTTTTTTTTACAGTGTACAAATGATCTAATCTAAATCAAATGCTTTTATTTGTGTGCAGATCCACACAGATATTTCAGCAGGTCAAGGTGTTGGAATTGAGCTCCTGGCCACCTTCCAGCTGGTGTTGTGTGTTTTAGCAACTACAGACAAAAGGCGGCGGGACGTGTCGGGCTCCGCTCCTCTGGCCATCGGCCTCAGTGTTTGCCTGGGACATCTGACAGCC[G/A]TGAGTAATCAGCATTCACACTTCCACCGCTCTATTTTCTTTACCACGAGCATTCCTCTAGCTGCAGTAAACACTGTCAGGGTTACCATATGAATATGTAAAGCAACAGAGCAATGCTTAACCCTTGTGTATTGTGCATATCGACTCCCCTTTCATTATGTTGGGGACTATTTTTGCCCTATTGACTTGCATTATAATGACATAAAATAATCATGACAGCATATAATCTTGATTGTTGGTGGTTTTGTCATGGTAGGAAGAGGTCAAATGTGTCAATTTTGCTGTTGATCATCAGTTGGCAGCATTAACCCTTTAGATAGGCCTGTACAAAACAGTGTCTGGCTTTTATATGGAGTTCTATGGAGTAAAACAGCAGATTATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATAAATACACATACTATTTTCTAAGAGCTGAGCTGCTTATTATTTATTTTCTCAAACATATCAAGGTAAGTGCGCAAAGATATCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32826
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
Founder:
SL6_11_A2
KASP Assay Location:
Unknown
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000032459 | Essential Splice Site | 175 | 260 | 3 | 4 |
Genomic Location (Zv9):
Chromosome 2 (position 2896515)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 2 | 2903540 |
| GRCz11 | 2 | 2745439 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAGCTCAATCCTCAGCATGGTCATCATCGTGTGTTGTTTCTCTCTGTGT[A/T]GATCAGCTTCACGGGATGTGGAATCAATCCTGCTCGAACATTCGGACCAG
Long Flanking Sequence:
TAGTAGTAGCAGCACACACACATACACTATACTCCATATAGCCATTTCATTTTGAGCCAGAAACTAAGCTTTTTTTGCTCTGCAACTGATGATCAACAGTAAAAAAATTACACATTTGATCTCTTCCCAACAGGGAAAACAAGCAACAATCAAGAACGGTCAAGACTTTGCAATCAAAAAGTGTGAATATAATGGAAGTCAGTGGGGCAAAAACAGCCGCCAACATAACGAAAGGGGAGTTCATTTGCCAAGAGTGTAATCCTGAATTTTAAACATTTTAACATTTAAGCATTTTGTCAAAATATGTTCCAAAAGATTTGCCCCCAAAAAATCTTTCTATATGCTCAAACACATTGTGGCCAAATCAATGACTCAAAATCACCCCAAGGTCTATGAAAACAACCCAACATCACACAAGGGTTAACCGAGTAAAGGAATAAGTAGGGCTTTCCAGCTCAATCCTCAGCATGGTCATCATCGTGTGTTGTTTCTCTCTGTGT[A/T]GATCAGCTTCACGGGATGTGGAATCAATCCTGCTCGAACATTCGGACCAGCAATGATTCGTCTAGATTTCGCCAACCACTGGGTAATAAAATTCAATTTCAGTTCCTTCCTTTAATCTAATCTAATTATTTCTAATTTAAAGGGGACCTATTATGCAAAAATCACTTTTATAAGGTGTTTAAATGCAATTTCTCGGCAACGGTGTGTGAATATAACCAGCTCATAATGTTTAAAATGCATTAATTGTATTTTTATAATCACACTTGATAAAAACAGTCTGCAGAAAAACTTTGATTGACATTCTCCCTTTGTATGATGTCATCAGATGGTGAAAAAGCCCCACCCACTAGTGCACATCTCTCCCTCATTAGCGCAAACAGCCCTGAATGAGAAGCAGCTGTTTTGAATCTGCCACTATGCTGACATGCAGGCATTTATAGCTCCGCCCTCTTTTGAAAAGAGCCCAATCTCATTTGAATTTAAAGCGACAGTCGCCAAAA
Associated Phenotype:
Not determined