ZMP
atp6v1c1b
Ensembl ID:
ZFIN ID:
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 is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa23559 | Essential Splice Site | Available for shipment | Available now |
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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