ZMP
atp6v1b2
Ensembl ID:
ZFIN IDs:
Description:
V-type proton ATPase subunit B, brain isoform [Source:RefSeq peptide;Acc:NP_878299]
Human Orthologue:
ATP6V1B2
Human Description:
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 [Source:HGNC Symbol;Acc:854]
Mouse Orthologue:
Atp6v1b2
Mouse Description:
ATPase, H+ transporting, lysosomal V1 subunit B2 Gene [Source:MGI Symbol;Acc:MGI:109618]
Alleles
There is 1 allele of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa15671 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa15671
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000063806 | Nonsense | 41 | 509 | 1 | 14 |
ENSDART00000063810 | Nonsense | 35 | 196 | 1 | 7 |
Genomic Location (Zv9):
Chromosome 10 (position 19585023)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 19597369 |
GRCz11 | 10 | 19554803 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGTCGCCGTTCGGGAAAATGTCCTTGCCGTGACTCGTGACTACATTTCT[C/T]AGCCGAGATTAAGTGAGTGTACAGTGCTGACTATRAAGGGCCCTTACAAA
Long Flanking Sequence:
TATAAAGTATTTGACACAAAAGCCGTGGGATCGGGACAGGTATCTTAAGTTATAACAGTATTAATGTAATCTGAGAGATATCTTAAGTAAATTTGTTTAATATAACATACACTGACTTCACATTAAACACCAGCGATCAGGACAGCTATTTTGTACTGCATATAAAAGACATTGCTGTTTTCACAATCTGCGCATGATCCGTGACCTATGCAAATTCACAGATAGGCCACGCCCACCCGATGACGTAGTAGCGGTTACGCTGTACTGAAACCCCTGGAAAAAAGTGCCTGCCGAGAAAAACACGTAGCTCCTAGTGCGCATGTGCATTTGTGCTTTCACACTTTAGCTTGCAGTAGTGATTTTTGTGTAGAGTAGTCATCATGAAGGCTCTTAGGGGAATGGTGAGCGGAGCCGTGAGCGAAATATCATCTTCTCTTACTGGGACTAAACAGGTCGCCGTTCGGGAAAATGTCCTTGCCGTGACTCGTGACTACATTTCT[C/T]AGCCGAGATTAAGTGAGTGTACAGTGCTGACTATGAAGGGCCCTTACAAACAGAAGCCCACCTTAGCGATCAAATGATGTGTAACTCCGCAACGATTGAATGACGTGCTCTGGATTTACGACTGCATTTCATTAACATCCTCGTAGTTATTCCTAACTGCAGACGTTTACTGTTTAATTTGTAAGATGTCTGATATTGTACATCAGTTTATGCAGTCAGGTGAATTGATAAATTAGATGGCACGTTCCCTGCTTTCTATATATATTTTTTCTTTCTAATTGGATTGTAATTATATCTGTGTAATTATTGCCCTTTCGACAAATATGATGCCGAATAAATGAACACGGATGTAGGTTTTAGGTTTGTGCATATCTGATGTGTATCGTGATGGTGTGATGGCAAGCTGTTTTAACATTAAGACTATTGTTGACAATTGTGTTATTATGTCTTTAGTTGTTTTAAGTGCATTCCCTGCTAAAACACAGCTTAAACCAGCTTTG
Associated Phenotype:
Not determined