ZMP

ATP6V1C2

Ensembl ID:

ENSDARG00000070440

Description:

ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 [Source:HGNC Symbol;Acc:18264]

Human Orthologue:

ATP6V1C2

Human Description:

ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 [Source:HGNC Symbol;Acc:18264]

Mouse Orthologue:

Atp6v1c2

Mouse Description:

ATPase, H+ transporting, lysosomal V1 subunit C2 Gene [Source:MGI Symbol;Acc:MGI:1916025]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa36543	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa36542	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa36543

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
ENSDART00000103374	Essential Splice Site	190	380	6	12

Genomic Location (Zv9):

Chromosome 17 (position 52187610)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	51572265
GRCz11	17	51661300

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTGGTTTTGAACTCAGAGTACCTCACGACACTAATAGTTTTGGTGCCTAG[G/A]TCAGTGTGTGCAGAGCAAATCTTAAGTATCACTTATCTATTTTTTTTATT

Long Flanking Sequence:

CAAGATTTTGCCAATTTTGTATACATGTTCTCTTTCTCTTTGCATTTCTTTAAAAGAGCTTAATGACAATGATAACCAGTGAGCTGTGATGATCACAAAAACCTCATTAAATTTTTCTGCCAATAAGTTGGACTATTTATTGTAAATATACCATTAAAGGGGTCGATCTGATTCAGTTCATTTAACAAAAGTACATTTATTTAAAATCTTGGGTGGGACCACAGTTTTTCAGGCACAAGTGGACCTGTGAAGATCTCTTCTCTGAACCCTATCATGCTTGGTGTCTCAGAAGGAGTTGGTGGAAAGGCTTGAGATGGGTACTCCCCTTTCTCTTGCTTTCTCTTTGGACTGTGATATTCATTTAATGATCAATAACCATCCCTCCTGCTTTGCATAACTAGGGGAAGCTTGCAGAACCGTTTGTTGACCAACATCGTGAAGAAGGAGGACTTGGTTTTGAACTCAGAGTACCTCACGACACTAATAGTTTTGGTGCCTAG[G/A]TCAGTGTGTGCAGAGCAAATCTTAAGTATCACTTATCTATTTTTTTTATTTTTTTCTGAATGCATTTGTTATGTTTTCTCTACAGGACAGAATATGTGCTGTGGCAGAAGACGTATGAGTCCATGTCAAAGTTTGTGGTTCCTCGTTCCAGCCGGTAGGTTCCCATGCATGCTCAGGGTTTCCACAGTCACCTTAAAACATCATTTTTTTTGTTTAAATACTATTGATCAGTGGTTTTCAACTCGGCCGCGATGAATTGCAGGGGGTTTATTCTGTTATTAAAAGAACAAGGGTTTGAGTATCAACCCGCCACAAATAGCGGATTCATTTAAAAATTGCTGTAGACTACAGAAACGTGTTTGGTATTGTGGGATTAGTTAATAAGATCGGAAACCACTGCAATACAGAAAATTATTTGCAGCATTCATTTTCATTAAAGTCCATACTTAGGGTGCACTCACACTAGGCTATCCAAACCATGCCCGGGCACGTTTCCCACT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa36542

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 > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000103374	Nonsense	349	380	11	12

Genomic Location (Zv9):

Chromosome 17 (position 52184295)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	51568950
GRCz11	17	51657985

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCAACTCTTTATTCAAACACCTCGACCCAGCAGCGATCAGCACCAAACCT[G/T]AGGTAAAAACAACACACAGATCCTTCTCAATGGTCGTGATCTAACAGTAT

Long Flanking Sequence:

ATACTCTTATGTATTTTTATCGTATTATTGCTTTAAAACGTGAATGAGAAATGCGCTGAAATATCACAGTAGCAGTTGACATAAATAATCTACTATTGGTGAATCCTATTGGTGATTTGTCTGGAAAAAATGCTATAATGTCGACAAAAAGACCATGTGCAACAATAAACATGTGGTGATTGTATTTCCCAACAGAGAACATTTGTGTGTTGGCTGAAGGTGAACTTCAGCGAAACCTTTGTGGCCTGGATTCACGTCAAGGTCCTTCGCACATTTGTTGAGTCAGTTCTCAGGTAAAATTAACCACTTGGCCTAAATAAAACAAAAAGTTGAACTGCTCAACATCAGACCCATTACAGTTGCTGTTGTTTAGGTATGGACTGCCGGTCAGTTTCCAGGCCATTTTGCTACAGCCCGGTAAAAAGAACGTGAAGCATCTGAAGCAGCAGCTCAACTCTTTATTCAAACACCTCGACCCAGCAGCGATCAGCACCAAACCT[G/T]AGGTAAAAACAACACACAGATCCTTCTCAATGGTCGTGATCTAACAGTATTTAATAAAGGACAGAGTATCCCTTAGATAAGACCTTTTCGGTCTTCATTTGAGGCCAAAAGGAAGTTTGAAAAGGCTGAGTGACGGTCTTCTGTTTGTGAATTTTCTGACACCCCCATGGTGCAGTGAGCTGGGTTGTTAATGTGTCACGTCACCCCATTGGACTTGATTGTAAATCAACAACAATGGCGGCGGTAAGAGAAGAACGGTTTCATATAAGGCAATTCTACAATAGAAGAGCCACCATTGCATGCCACATTACTGTAAATTTGCAGCAGACAGACACTGAATTGAGCAATGTTTATAAGCCTTATCAGATTTGGCACTATACATTTGTGTTTATCGTCCGGTTTGTGACGCTGAGTCTTTAAAATCTGTCTGTGAGCGATAGTACAGGTGAGGATACATCGAGACCAGCTCTTCTACTTGACTCTATCGTTTATTCATGCTT

Associated Phenotype:

Not determined