atp6v1a

Ensembl ID:
ENSDARG00000076318
ZFIN ID:
ZDB-GENE-030131-9529
Human Orthologue:
ATP6V1A
Human Description:
ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A [Source:HGNC Symbol;Acc:851]
Mouse Orthologue:
Atp6v1a
Mouse Description:
ATPase, H+ transporting, lysosomal V1 subunit A Gene [Source:MGI Symbol;Acc:MGI:1201780]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa24491 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa24491
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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114661 Essential Splice Site 239 617 6 14
Genomic Location:
Chromosome 24 (position 21772531)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AACATCTGATACTTCTACAGCTATTTTATGTTTTATTTTTTGTTTCACCA[G/A]ATGTGTGCAAGGAGGAACCACAGCAATCCCCGGTGCTTTCGGATGTGGTA
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/09jhnch9