atp6v1ba

Ensembl ID:
ENSDARG00000013443
ZFIN ID:
ZDB-GENE-030711-3
Description:
V-type proton ATPase subunit B, kidney isoform [Source:RefSeq peptide;Acc:NP_878298]
Human Orthologue:
ATP6V1B2
Human Description:
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 [Source:HGNC Symbol;Acc:854]
Mouse Orthologue:
Atp6v1b2
Mouse Description:
ATPase, H+ transporting, lysosomal V1 subunit B2 Gene [Source:MGI Symbol;Acc:MGI:109618]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa23052 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa23052
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007021 Nonsense 205 506 7 14
Genomic Location:
Chromosome 17 (position 21218512)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCTTTGATCATTAGATTGCAGCCCAGATTTGTCGTCAGGCTGGTTTGGTG[C/T]AGAAATCCAAAGATGTGACTGACTACAGTTCAGAAAACTTTGCCATCGTC
Associated Phenotype:
Not determined

GWAS

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

  • Major depressive disorder (broad): Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. (View Study)

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

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/nn7bh4kw