ZMP

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 are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa24491	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa24491

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000114661	Essential Splice Site	239	617	6	14

Genomic Location (Zv9):

Chromosome 24 (position 21772531)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	24	21019660
GRCz11	24	21164079

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AACATCTGATACTTCTACAGCTATTTTATGTTTTATTTTTTGTTTCACCA[G/A]ATGTGTGCAAGGAGGAACCACAGCAATCCCCGGTGCTTTCGGATGTGGTA

Long Flanking Sequence:

ATTTTAATTTAGTTTAACAACAAAACATAAGTAAATAGCGCCTAGCCTGCTTTACTGAGCTAAAGTTGTTTTTATATTCACATCACATTGGTTCATTTTTGAACAATGACAACCTGTGACACGCTCCCTATATTGTTTAACATGCTACTTTGAATATTCGGTTTGAAATAGCATGTAAATATGGCCTAGTAATAAATGTAATTCCTGCATACTGCCGGCCAAGCACTAAGCAGAGTCGCTATAGAACAGCACGTGAGAGAAAGTTGTCTGTCATTTTTAAGGTGTGCATGCTCGTGTTTCAAGTGGCGTGGATTTAGATGGCAGGGAAGGGACTGTGCTTCAAAGATATTATGGTAACCGGTTAGCATTGTGGGAGATCACCCACTGCATCTTTAATGCATTGTTTCTAAATAAGCCATTAAAAAAAACTAACCTTTAAACAGTTCTGTAAACATCTGATACTTCTACAGCTATTTTATGTTTTATTTTTTGTTTCACCA[G/A]ATGTGTGCAAGGAGGAACCACAGCAATCCCCGGTGCTTTCGGATGTGGTAAAACCGTGATTTCTCAGTCTCTGTCTAAGTACTCTAACAGTGATGTCATCATCTATGTGGGCTGTGGAGAACGAGGAAATGAAATGTCTGAAGTACTTCGAGATTTTCCTGAGGTGGGTATGGTAGCTTCAGTTATCATTAAACCAGCAACTCAAACTGTGATTGGTGCTGGAGTGATTGACAGTTCTTATTGCCCTATAGCTGACCATGGAAGTGGGAGGTAAGGTGGAGAGCATCATGAAGAGAACAGCTTTGGTTGCAAACACATCCAACATGCCTGTGGCTGCCAGAGAAGCTTCTATTTACACAGGTTTGTTGAAGATCTCATAAATTATAGGTCAAATGTTTGAGATCAGATTTAAGATTTAAAGGGATAATTTACCAAAAACATACAAATTTACTCAATATTTACTATCGCCCAAGTGGTTCCAAACCTGTATGAACACAAAA

Associated Phenotype:

Not determined