atp1a1a.2

Ensembl ID:
ENSDARG00000007739
ZFIN ID:
ZDB-GENE-001212-2
Description:
ATPase, Na+/K+ transporting, alpha 1a.2 polypeptide [Source:RefSeq peptide;Acc:NP_571762]
Human Orthologue:
ATP1A1
Human Description:
ATPase, Na+/K+ transporting, alpha 1 polypeptide [Source:HGNC Symbol;Acc:799]
Mouse Orthologue:
Atp1a1
Mouse Description:
ATPase, Na+/K+ transporting, alpha 1 polypeptide Gene [Source:MGI Symbol;Acc:MGI:88105]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa19399 Splice Site, Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa19399
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:
A > T
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000006449 Splice Site, Nonsense 658 1023 13 22

The following transcripts of ENSDARG00000007739 do not overlap with this mutation:

Genomic Location:
Chromosome 1 (position 1551499)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTGAAGACATTGCCGCTCGCATGAACATCCCTGTTGGAGAGGTTAATCCG[A/T]GGTAAACCCAACCACCTAAAACACAGCAACAATTTAAATAAATATATTGC
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/tyx8j2v4