ZMP

atp6v1c1b

Ensembl ID:

ENSDARG00000035880

ZFIN ID:

ZDB-GENE-041010-104

Description:

V-type proton ATPase subunit C 1-B [Source:UniProtKB/Swiss-Prot;Acc:Q5XIY6]

Human Orthologue:

ATP6V1C1

Human Description:

ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 [Source:HGNC Symbol;Acc:856]

Mouse Orthologue:

Atp6v1c1

Mouse Description:

ATPase, H+ transporting, lysosomal V1 subunit C1 Gene [Source:MGI Symbol;Acc:MGI:1913585]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa6563	Nonsense	Mutation detected in F1 DNA	Not yet available
sa23559	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa6563

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000052091	Nonsense	197	381	8	13

Genomic Location (Zv9):

Chromosome 19 (position 34331787)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	33369203
GRCz11	19	32956323

KASP Assay ID:

554-4791.1 (used for ordering genotyping assays)

KASP Sequence:

TTGCCTCTTTTCTGTTTTATTRCCCCAAAAAGGACAAACTATCCTGAGTG[G/A]CAGAAGACGTATGAAACTCTTTCTGAAATGGTCGTTCCAAGATCAACAAA

Long Flanking Sequence:

TTGCTAATTCGTGAAATGCAAGTCAATGACTATTGGCACTTTGACGGTCAAAAAATAAATCAAAACACAAATATAAACAAAATTCGTACTTGTGGCTGTTGATACATCGAGATCTTATGAAGTAAAACGATTGGTCTGTGCAAGAAACTGGCCATTATTTAAAACATTGTCAAGACTGTTTCTTTTCGGAAAATAAAAATGAACAATATTTTGAATAATGTTTGAAAGAAAAAAGGTTGAATTCCCATTGATTTTCATTGTGTGGATAAAATACAGTAGTCAATGGGAACTGACTTTGTTGTCTTAGTTTCTTACCAATGTTATTCAAAATACCTTTTTTTATATTTCACAGAGGAAATGAAGTAAGACAGGGTTGGAATTACTTTTGGCAGATTAATTTATAGGGTGAACTGTCCCTTTATTTGTTAAACTGCCTTTATACATTTGTCATTGCCTCTTTTCTGTTTTATTGCCCCAAAAAGGACAAACTATCCTGAGTG[G/A]CAGAAGACGTATGAAACTCTTTCTGAAATGGTCGTTCCAAGATCAACAAAGTGAGTAAAATTCAGTGAGTAAAACAGTATTTTCTGCAGTCTATACTTATTACTTTACTACCTGACATGTCTAAAACCTAACATCATGCTTGGCTATTTGTGCACATATGAACTTGGGCAGACAGTGTTTCTGTTACAGTTGTGACACTTTTAAAGATAAAGATTCAAAAGTTTTTGAAGCAATGCCTAAGCAGAGCCATTTTCGGTTCTCTATAGAAAATGTATTTAGGTTTCTAAAAGGAACCATTTAGTTGAAGAACATTTTAATGATTTAAAGGTCTCGTGAAGGTGTTTGATGTTTGACGTAATCTCAACCAAAACACAAAGAGAGGGTGGGATATAGTGTAGCTCCCTCTCTTTTTATAAAACACCCAATAGTGTTTTGCATGGCCGGAGTGGGACTTCTTTTCAGCCCTGAAGTTTCAAGCCTCAGACTGGCCCACCTCGGTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa23559

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:

A > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000052091	Essential Splice Site	214	381	9	13

Genomic Location (Zv9):

Chromosome 19 (position 34334494)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	33371910
GRCz11	19	32959030

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GAGGGACAAACGCAGATTTTTGATAATGAGTTTTCATCTGCTCTTCTGTT[A/T]GGCTTTTATTCGAAGACCAAGAAAGTGGGTTGTTTAGTGTCACGCTCTTC

Long Flanking Sequence:

CGTTACAGAATGTTCTGACCTCAAAACAGTGTCGACATGTAGGCTGTCAAACAAACAGAAGGTTACATCGGTTGGCACACTGTAATGCTTTCGAACTTTGGGATCTAAAATTAGAATCAGTGTTACAAAGTGTGACGAAAGTGTTTAAATGTGCAATTTAGCTTGTCATATTAGACATTAATTTCTACTATCCACTACATCTATTCAGACAGAAAATCTTCTAAATTATGTTGATTTTAATCTAACAAATGTTGATGACTTCATAAGTGAACCAATAGGAGAACAATTAAAAAAACTAATGAACAAAAGTAGTTCATGACACCTTTAAAATTCAAAAGAGGTATATTGAGTAAGGCGAACTGGAAGCCTGTACAAGTTTTAGCTTTTTATTGTCCTCATTCAGATGTTTTATATGCCTGTAGCAGCTTATTTCTTTGTATCCAGTTGAATGAGGGACAAACGCAGATTTTTGATAATGAGTTTTCATCTGCTCTTCTGTT[A/T]GGCTTTTATTCGAAGACCAAGAAAGTGGGTTGTTTAGTGTCACGCTCTTCACAAAGGCCATCGACGACTTCAAACAACAAGCACGAGAGAACAAGTGAGTCTCTGAAGCCTTATAGTGTTTATAAGTTCAAATAGAGTTGTAAAAATATTTTGCTATGAAATTGTGATACAGTATGATGCAATTCGCACCATTATTAGCAAACTTAATAACAAAAACAAAACTTTGTACTGTTTGTACTATATAGCTTATATTTTAGGCTATAGGAGCCTGAATAATACCTATATTGAACAAAGAACTTGACCACTATAATTAGTCACAATTATTTATAATGTATACTTATTACAAATAATTAAATCTACATTTTTGTTTCTAAATGATATGCTAGGTTAGGTCGCCACACCATGAAAAAGTATTTAAGTGTAATAAACTCACTATTCTGTAGCACCACAAGACACTGATGAAGCTCTTTGATTATGTCACAGATTGTCAAATAACTAGC

Associated Phenotype:

Not determined