ZMP
LOC572029
Ensembl ID:
Human Orthologue:
ATP13A3
Human Description:
ATPase type 13A3 [Source:HGNC Symbol;Acc:24113]
Mouse Orthologue:
Atp13a3
Mouse Description:
ATPase type 13A3 Gene [Source:MGI Symbol;Acc:MGI:2685387]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa35125 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa11201 | Essential Splice Site | Available for shipment | Available now |
sa41882 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa35124 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa35125
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111702 | Nonsense | 61 | 502 | 2 | 13 |
Genomic Location (Zv9):
Chromosome 11 (position 34983351)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 33883697 |
GRCz11 | 11 | 34146129 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGATCTCTCACCGTTTGTGCTCTCTGTTTTCAGGAGGTGGAGATTATTT[T/A]GGAAGATGGTCATTCTGTGGATGAGTCCAGATCTCAGGAACAGTATCACT
Long Flanking Sequence:
CCCACTTGTTTCTCCAATCAACTTTTGAAGGCCCACCTGTCTGACGTTTTCTTTAAAATGTTTTGATGAAATGTTCATCTAAACCTTTATTTATTAACAAATATATATTATACATTTGTTGTGCCTTCTGTTATTTCCTATTATTAGCATTTTATTAAAAATTATATAGTTTTATTTAAATTGTATTATATATAAACTAAAACTATATATATATATATATATATATATATATATATATATATATATATATATGTGTATATATATATATATATATATATATATATATATATATATGTGTATGTATATGTAGTTTTTTGATCGTATTAGCTAGGCTTTGACGTGTTTAATGCACTTGTTTCAAAAACAACAACAACAAAAAAACTTTGATTGCCAGTGTACATTAAAAACCTTCATATATTATCATCGGATGAAGCACAAAGCTGTAGCTTCAGGATCTCTCACCGTTTGTGCTCTCTGTTTTCAGGAGGTGGAGATTATTT[T/A]GGAAGATGGTCATTCTGTGGATGAGTCCAGATCTCAGGAACAGTATCACTTCGCCATGAGCGGAAAATCTTTCGCTGTAATTATTGAGCATTTCCAGGACCTGCTGCAGAAGGTTAGTAGGCCGCTAATTCCCCCTATACTGTATCTCTGTGCATGTGTCACGTTTGATATTTACAATGTTTTCATGGTGTAGCTGGTGCTTCATGGGACTGTGTTTGCAAGGATGGCGCCTGACCAGAAGACTCAGCTTGTGGAGACTTTAGAAAGTGTAGAGTGAGTATTACTTAGACACACACACAAAGTCTGTGTAAAATTTTATGTTTACAATGTTTATTTTGCTAGAACACAATGTTTTTGTTTAGGTGAACTATCAGTAAATCAGTAAAGTTAATCTGTGGAAAAATAAATTATTCATTAATTTTCCTTCAGTTTAGTCCTTTATGTATCAGGGGTTACCACAGCAGAATGAACCGCCAACTATTCCAGCATGTTTTACGCAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11201
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111702 | Essential Splice Site | 98 | 502 | 2 | 13 |
Genomic Location (Zv9):
Chromosome 11 (position 34983237)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 33883583 |
GRCz11 | 11 | 34146015 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAAATCTTTCGCTGTAATTATTGAGCRTTTCCAGGACCTGCTGCAGAAGG[T/C]TAGTNGGCCGCTAAWTCCCCCTAWACTGTATCTCTGTGCATGTGTCAYGT
Long Flanking Sequence:
TTTGTTGTGCCTTCTGTTATTTCCTATTATTAGCATTTTATTAAAAATTATATAGTTTTATTTAAATTGTATTATATATAAACTAAAACTATATATATATATATATATATATATATATATATATATATATATATATATGTGTATATATATATATATATATATATATATATATATATATATGTGTATGTATATGTAGTTTTTTGATCGTATTAGCTAGGCTTTGACGTGTTTAATGCACTTGTTTCAAAAACAACAACAACAAAAAAACTTTGATTGCCAGTGTACATTAAAAACCTTCATATATTATCATCGGATGAAGCACAAAGCTGTAGCTTCAGGATCTCTCACCGTTTGTGCTCTCTGTTTTCAGGAGGTGGAGATTATTTTGGAAGATGGTCATTCTGTGGATGAGTCCAGATCTCAGGAACAGTATCACTTCGCCATGAGCGGAAAATCTTTCGCTGTAATTATTGAGCATTTCCAGGACCTGCTGCAGAAGG[T/C]TAGTAGGCCGCTAATTCCCCCTATACTGTATCTCTGTGCATGTGTCACGTTTGATATTTACAATGTTTTCATGGTGTAGCTGGTGCTTCATGGGACTGTGTTTGCAAGGATGGCGCCTGACCAGAAGACTCAGCTTGTGGAGACTTTAGAAAGTGTAGAGTGAGTATTACTTAGACACACACACAAAGTCTGTGTAAAATTTTATGTTTACAATGTTTATTTTGCTAGAACACAATGTTTTTGTTTAGGTGAACTATCAGTAAATCAGTAAAGTTAATCTGTGGAAAAATAAATTATTCATTAATTTTCCTTCAGTTTAGTCCTTTATGTATCAGGGGTTACCACAGCAGAATGAACCGCCAACTATTCCAGCATGTTTTACGCAGTGGATGCCCTTCCAGCCACAACCCAGTGCTGGGAAACACCCATACACTCTCACATCCACACACTCATACACTATGGCTAATTAAGTTAATCCAGTTCACCTATAGAGCATGTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41882
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111702 | Essential Splice Site | 139 | 502 | 4 | 13 |
Genomic Location (Zv9):
Chromosome 11 (position 34979302)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 33879648 |
GRCz11 | 11 | 34142080 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGCAGTTATTTTGTAGGGATGTGTGGTGATGGAGCGAATGACTGTGGGG[T/C]GAGCTGTTTTTATTGTGTTTTTTATACGTCGTCTCTGTGTTGTGGACTGC
Long Flanking Sequence:
AAAACTTTGGAACAGGCTTTTACCCCACATCAGACATGCTCCAACTCTATCTGTTTTTAAAAAGCATTTGAAACTCCATCTTTGTTCTTTAGCATTTGAGCCTTTTTAAATTTGAGGGGTTTGCCTTATGTTTTAAATGTTATGTATGTGATGTAGGTTTTATTTTAATTTAGTATTGATTGTGTTCAGCACTTTGGTCAATGTTGTGTTGTAAAAAATGTGCTATATAAGTAAACTAACTAACGAACTAACTTGAAAAATATCTAGTCAAATATTATTTACTGTCATCGTTGCAAAGAGAAAATTAATCAGTGATTAGAAATGAGTTATTAAAACTATTATGTTGAGAAATGTTTAAAAAAACAGAAATTAGGTAAAAATCTACAAGTAGTCTAATAATTCTGTATATTTAAAGAGAAAGTGTAGTTGTACTAACATGTTTTCCCTTTCCTGCAGTTATTTTGTAGGGATGTGTGGTGATGGAGCGAATGACTGTGGGG[T/C]GAGCTGTTTTTATTGTGTTTTTTATACGTCGTCTCTGTGTTGTGGACTGCATTACTGATGATGTCTGTATGTGTTTTGCTCAGGCACTGAAGAGAGCTCATGCCGGGATCTCACTGTCAGAACTGGAGGCTTCAGTGGCGTCTCCTTTCACCTCCACAACTCCCAGCATCACCTGTGTGCCCAACCTCATCAGGTGAGCTGTCATGACCAATCACAACTGGAGCACAAACACTGTAAACAGAGTTTTTTAAGAACCACATTTCAAGTGTCGTGTTTGTGTGTAGTCTCATACAGTGCATGTTGTTTCTCCACAGAGAAGGCAGAGCGGCTCTCATCACCTCCTTCTGTGTGTTCAAGTTCATGGCGCTCTACAGTATTATTCAATGCCTCAGCGTCGCACTGCTCTACTCCGTAAGCTCCGCATTTCCTTTACAACTATTGTAGAACAACTTTGTGTAGTAGTTCTACTTCTTTTACAGGGGTTTGTGAATAACTGAAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35124
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111702 | Nonsense | 446 | 502 | 13 | 13 |
Genomic Location (Zv9):
Chromosome 11 (position 34955175)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 33855728 |
GRCz11 | 11 | 34118530 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCATTGTGTGTGTGTCTATAGGGAGGAATAGACATGTATGGATCTAAATG[C/A]CTCTCCTGGCTCTGCTGCCGGCGAAGAAAAGTTCCCAAGGCACGCTACAT
Long Flanking Sequence:
GGAGCTTAAGATTAGCTAAAGCAAAGAAATACACACCATTTGAATTTTGGCATTAATTCAAATAGACATTCATTTCCCTTGCATGTGCTTGAAGGCATGACAAAACAAACCAAAGGCTCTCACATCGTTTCTGCAGATGAATATGAATCTCATTTCACTTACCACGTTTAACATTTACAGCAGTGGTCACCAAACTTGTACCTGGAGGGCCGGTGTCCTGCAGATTTTAGCTCCAACCCTATTCAAACACACCTGAACAAGCTAATCAAAGTCTTACTTGGTATGCTTGAAACATCCAGGCAGATGTGTTGAGGCAAGTTGGAGCTAAACCCTGCATGGACACCGGCCCTCCAAGACCAGGATTGGTGACCCCTGATTTACAGGTTGAAATTCTGTCTTGTCAAGAACATGTGGAAAATGCATACATCTTCTCCTCCTTGTTCTTCCATGCCATTGTGTGTGTGTCTATAGGGAGGAATAGACATGTATGGATCTAAATG[C/A]CTCTCCTGGCTCTGCTGCCGGCGAAGAAAAGTTCCCAAGGCACGCTACATGCATCTGGCACAAGAATTAAGCGTAGATCCTGACTGGCCCCCCAAACCCAAGAGCACTACTGAAGCCAAACCCGCCCTACATCCAGATGACTGCTCCTACCAGATCGAGGCGATTTCCTAGCATTTCTTTCAGCAGTAAATACACTCCGTATTGCACGTCCAAACCACCAGGGATTTCTGTAAACACTGTCAAAAACAATTACGAAAAGACCAAAAACCTGCTAGGGGAGAGCTGTCTTTCTTCCTGGATTATTTTGTTTGTTTGTTTCACTTCTGCTGCTCAAGATTGTTTCCTTTTTTAAATGGGTGGAGTTTACAGGCTGGGAACTGTAGAAGCTCCGCCCCCCCCCCCGGGCATGCGGCTCGTCACCGATATTCCCTTAAAGCATCATGTAGACCGCAAAACGATTGAACTCATTACCAAATGTGGCTCTTTTAGATGATTACCAT
Associated Phenotype:
Not determined