ZMP

atp6v1h

Ensembl ID:

ENSDARG00000006370

ZFIN ID:

ZDB-GENE-021219-2

Description:

V-type proton ATPase subunit H [Source:RefSeq peptide;Acc:NP_775377]

Human Orthologue:

ATP6V1H

Human Description:

ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H [Source:HGNC Symbol;Acc:18303]

Mouse Orthologue:

Atp6v1h

Mouse Description:

ATPase, H+ transporting, lysosomal V1 subunit H Gene [Source:MGI Symbol;Acc:MGI:1914864]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa25830	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa12036	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa25830

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000019029	None	None	463	None	13
ENSDART00000099043	Essential Splice Site	172	481	6	13
ENSDART00000145681	Essential Splice Site	172	481	7	14

The following transcripts of ENSDARG00000006370 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 2 (position 30522124)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	30823759
GRCz11	2	30807292

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGCCCAAAATCACCGTTTTTTTCTTTCTATCTTTTTTTTTGTTGTTGTTA[G/A]AAACTACATGGTACAGGTGCTGAACCTGGAACAGGGACCATCTCCCCCAG

Long Flanking Sequence:

ATTTTAGCCCGAGGGCCCTCTGAATTAATGAATGTTGAAAATCATAAATAGAAGAGCTCTCAAAACAGTTCATGTTTATTAGTCTATTCAGAGCACACTCCATAAATTAGCTTCATTGTAGCAAAGCTGCGATGGTTGTGAATAAACCTTTTCAGTGAATTAGTAGGACAAAAAAATAGCCTTTATTAAGATGGGAATAAATATAAGTTTAATTATGTCTGGGTTTTGCAAAAGTGTTCCATGTATTATCACTGAAATTGTGGTTATCTCTTGTAACAGGCTTAAGAATAACATTTTCCAGTGCAGCAGAGACTGAAATAAATTCAAGGCCACTCTCGCACAGATTTTTAGACTTTTGCCTGTCAAGAACAAACTGTCTCTCTCATGCGGGAGTCATCTGTCTTCCTGCCACCATTGTCCAAGCACACGGCTCACTTTTGCTTCAAACGAGGCCCAAAATCACCGTTTTTTTCTTTCTATCTTTTTTTTTGTTGTTGTTA[G/A]AAACTACATGGTACAGGTGCTGAACCTGGAACAGGGACCATCTCCCCCAGTGAAGTGAGTATGTCACAGATGAAGGAGGCAGATGTGCAGCTGTGTGAACGAGCTTCCGTCCCCTTTCAGAGGCTGAGATCTTCACCCCTCTCTTTTTTGAGATGCAGCACATGCTGTTTCTTGTCCACTGCTTTTCCCCCCCATTCATATCCACTGTGAAAAATAAGCATTTTTATTACAAAGGTCCTTTCCTCTCTTGCCCAATGGCTGTGGTCATAATCTAATATTTATTCACTTTTTCTTTTCTTTTTCTTTTTTTTGAGACACCGCTAGACTTGATAGATTGAAAGGACCACCAGAAGGCTTTTGTCTTGCACTATAGCAATCTTCCTCTTTCATTTCTTTTTATGCTTTTTAGAGTTCATTTGAAAAGAAGTTTTTTTTCTCTCTCTCTCCTCTTTCATCATGTGTCGCGAGTCAAAATCTGCTGGTGCACTGCAAGCGGCCAC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa12036

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
Order Allele From EZRC

Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000019029	Nonsense	219	463	8	13
ENSDART00000099043	Nonsense	237	481	8	13
ENSDART00000145681	Nonsense	237	481	9	14

The following transcripts of ENSDARG00000006370 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 2 (position 30526468)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	30828103
GRCz11	2	30811636

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TGCAGCAWCAYGGCAGTGCKGAGCAATAAGTGTGGCTTCCAGCTGCAGTA[T/A]CAGATGATCTTCTGCGTGTGGCTCCTGGCATTYAGCCCGCAGCTCTGCGA

Long Flanking Sequence:

GCTCTTAAAATGTACTATTTAAAACAAATGTACTATTTAAAAAAAACATACTATTTGGTATTTTACTAGTTTACTATTGTAAAATGTACTCTCCGTCCTTTGCAGTATCGAAGACTGAATCTCGCAGAACAAAAAAAGCATCTCTCATTGTCCTAGCATGTTTTAGCCCTGTGATCATGAAGCTTCTTTTGTTTGCTGGTGTGCAGACAGAGTGAAAGAAAGGATAATGAGGCTTCTCTTAAGATAATTTTCTTTTTCTTGCCTCTCAAGTAAAATTTCTTTCATGTAATGGTCTCATTATACATCACAAAAATGTGGGCTCTCATTTTGTCCCCCCGTCTCGCCCATCAACCCATCAGGACTAACTTGGTGAAGAGCATCCTCTCAGCAGACCATTAGGGGCGAGATGCCCCACTGCTTACTAACTAGGACTTCTCTTTCTGTGTGTCCTGCAGCATCACGGCAGTGCTGAGCAATAAGTGTGGCTTCCAGCTGCAGTA[T/A]CAGATGATCTTCTGCGTGTGGCTCCTGGCATTCAGCCCGCAGCTCTGCGAACAGCTGCGGCGCTACAACGTGGTACCAGCCCTCTCCGACATCCTCCAAGAGTCTGTCAAAGAGAAGGTCACTCGCATAATTCTGGCTGCTTTCAGGGTATGTGTCATGACGCACTCATTAGCAAGCCATTCTCCTTCTTGACTTTGTGAATGCAACTGAATGCGGTTCTGGCTGTTGAATTTAAAATTAGCCTGATGCCTTTTTAAAAATAGCATTAAGAGATTATTCACCCACAAATGCAAATACAGTTGTTATTTACTCACTCTGGGGTTGTTCCAGTGCTTTTCTGGGCCACAAAGACGAGGGATTTTGTTTATGTAATGGCAGTGCACTGTAGAAAAAGCTTGGTTCTACTCAATTCCTTCATTTTGTCCCAACACAAATTAAGTTAACTTAATTGTTTTTACAAATGTAAGTGGATTAAACCTAAAACAATTAAGTTGTTCCAA

Associated Phenotype:

Not determined