atp1a2a

Ensembl ID:
ENSDARG00000010472
ZFIN ID:
ZDB-GENE-001212-6
Description:
sodium/potassium-transporting ATPase subunit alpha-2 [Source:RefSeq peptide;Acc:NP_571758]
Human Orthologues:
ATP1A2, ATP1A4
Human Descriptions:
ATPase, Na+/K+ transporting, alpha 2 polypeptide [Source:HGNC Symbol;Acc:800]
ATPase, Na+/K+ transporting, alpha 4 polypeptide [Source:HGNC Symbol;Acc:14073]
Mouse Orthologues:
Atp1a2, Atp1a4
Mouse Descriptions:
ATPase, Na+/K+ transporting, alpha 2 polypeptide Gene [Source:MGI Symbol;Acc:MGI:88106]
ATPase, Na+/K+ transporting, alpha 4 polypeptide Gene [Source:MGI Symbol;Acc:MGI:1351335]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa18738 Nonsense Mutation detected in F1 DNA During 2014
sa9321 Essential Splice Site Mutation detected in F1 DNA During 2014
sa11860 Nonsense Available for shipment Available now
sa18737 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa18738
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011188 Nonsense 27 1017 2 24
ENSDART00000093298 Nonsense 27 1017 2 25
Genomic Location:
Chromosome 2 (position 44311691)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCCGGAGGCGGCACCAACGGGGGGAAAGAGGAAGAAGAAGGATAAAGATT[T/G]AGATGAGCTGAAGAAAGAGGTGTCACTGGTAAGACGTTGTTATTTGGTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9321
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011188 Essential Splice Site 36 1017 2 24
ENSDART00000093298 Essential Splice Site 36 1017 2 25
Genomic Location:
Chromosome 2 (position 44311661)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAAGAAGAAGGATAAAGATTTAGATGAGCTGAAGAAAGAGGTGTCACTGG[T/A]AAGACRTTGTTATTTGGTCTGTGTGCCTACCGAAWATGTACTAATAAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11860
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011188 Nonsense 982 1017 23 24
ENSDART00000093298 Nonsense 982 1017 23 25
ENSDART00000011188 Nonsense 982 1017 23 24
ENSDART00000093298 Nonsense 982 1017 23 25
Genomic Location:
Chromosome 2 (position 44269683)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTKTTCCTCACCTTTCTTCTCTTRTTTTCTTCTTGCAGGATTATGTGGTG[G/A]TTCTGTGCTTTCCCGTACAGTCTGCTTATCTTTGTGTATGATGAGATCCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18737
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011188 Nonsense 982 1017 23 24
ENSDART00000093298 Nonsense 982 1017 23 25
ENSDART00000011188 Nonsense 982 1017 23 24
ENSDART00000093298 Nonsense 982 1017 23 25
Genomic Location:
Chromosome 2 (position 44269683)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTTTTCCTCACCTTTCTTCTCTTGTTTTCTTCTTGCAGGATTATGTGGTG[G/A]TTCTGTGCTTTCCCGTACAGTCTGCTTATCTTTGTGTATGATGAGATCCG
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

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* quick link - http://q.sanger.ac.uk/hzh7rz74