ZMP

aqp1a.1

Ensembl ID:

ENSDARG00000023713

ZFIN ID:

ZDB-GENE-030131-7764

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]

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.

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
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.

Availability:

Not yet available

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