ZMP
atp1a1a.3
Ensembl ID:
ZFIN ID:
Description:
ATPase, Na+/K+ transporting, alpha 1a.3 polypeptide [Source:RefSeq peptide;Acc:NP_571763]
Human Orthologue:
ATP1A1
Human Description:
ATPase, Na+/K+ transporting, alpha 1 polypeptide [Source:HGNC Symbol;Acc:799]
Mouse Orthologue:
Atp1a1
Mouse Description:
ATPase, Na+/K+ transporting, alpha 1 polypeptide Gene [Source:MGI Symbol;Acc:MGI:88105]
Alleles
There are 14 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa13779 | Nonsense | Available for shipment | Available now |
| sa19400 | Nonsense | Available for shipment | Available now |
| sa25506 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa19401 | Nonsense | Available for shipment | Available now |
| sa19402 | Nonsense | Available for shipment | Available now |
| sa8642 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa16341 | Essential Splice Site | Available for shipment | Available now |
| sa6572 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa44503 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa9018 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa18431 | Essential Splice Site | Available for shipment | Available now |
| sa31188 | Nonsense | Available for shipment | Available now |
| sa15962 | Nonsense | Available for shipment | Available now |
| sa5932 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa13779
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103850 | Nonsense | 25 | 1024 | 2 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 1562361)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 1657781 |
| GRCz11 | 1 | 1805575 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATGARTATAAGTTGGCGGCGACTTCAGAAGATGGAGTCAAAAMGCCTAAA[A/T]AAGGGAAAAAGAACAAAAAGGACATGGACGAACTGAAGAAAGAAGTGGAA
Long Flanking Sequence:
GGTCATTTACAGTCAGTTATTATTAACAAGCCTCAGATCAATTGATAAGGCGATAGTTAATAGACCAGTCTTGCGTCTGGGTGTCACAGAAACGACCTACCTGTAAAAATGAAGGTTAAATAAATGTTAAATCTAAATGGCACCTGACAAACTCCACCCTCATGTTCCCAGAAATGATGGGAGGGTATAAATCTGGAAGGCTGCTTTGGACACACAGGGACTTCTGTCTCCAATCGGCTCCACCACAGGAGGACTATCCTGACTCCCCAAATCACTGCATTTTGGGTGAAAAATGGGGCTTGTGGTAAGACAATTGAAGCTATACTGCAGGATTCATCATCTAATTTGTTGCTGTTTTGTTTTTACAGATTCTGCATATATTGCATTTATTTAAGCAGATTTGTTAGGATCTGTTTAATATATTGTTTTACATCCGGCAGACAGGGAATGATGAGTATAAGTTGGCGGCGACTTCAGAAGATGGAGTCAAAAAGCCTAAA[A/T]AAGGGAAAAAGAACAAAAAGGACATGGACGAACTGAAGAAAGAAGTGGAAATGGTATGAAATGATTTGGAAATAATCTACACACTATATACAACTTAAGCCTAAAGTCATTTGGAGTCTGATTTCTTGGTATCAATCTGAAAAGTGATTTCTTGTGAATGCTCAGAAAAGTGACTGTTGATATATTGTGTGTTTAGCCAACAGACAGCACTTAAAATAGCATGGCTGCCTTTTTTGAGAAATTACTCGACTTCAAGTTAATGTTGATATATTTCACATATTTATAACATTTTAGGATGTCTTTTTTTAAAAGTTGTTAAGGGTTGTTAATGCAGGAAAAATAAGCTTGTTTATGCAGATTTTAATTAACTCTGTGTTGTTGTTTTTGTTGTTGTATTTTGTGTGTTACTGAGATTTTGTTATTGAAAATCAGCTCAATTCTTCAAATATTCGTAAATGTTAGTTTATATTTAATAATTTGGCCATTTAGTTCTTCAATTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19400
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103850 | Nonsense | 46 | 1024 | 3 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 1563553)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 1658973 |
| GRCz11 | 1 | 1806767 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCACAATCTGAAAAACAAAAACTTCTCTACTCTTCTTCAGGATGATCAC[A/T]AACTGACATTGGAGGAGCTCAGCAGGAAATATGGAACTGATCTGAACAAG
Long Flanking Sequence:
AGATATTTGTTTAGATATTGTTTAGAAATCTGTAGTTTTCACTGTTTAATTGATTTAATTGTTTTATTAATAATAATGTGGTAAGATTTAAAATAAGACGGGAAGTCACAAGTACAGTTCTTAATTGCTGGGACAACATTCAAAAAATATGCAAAATTACATGATTTAACTGGGTCTAGATCACATAAAAAAAATAACATGATATTTATTTATTTATTTATTTTTTGCTTTTTTTGCATGTGATTGTTCTGTCACTTACTAACAAGAAAATTATCACATACAGCTCTGGAAAAAATGAACCAATCACTTTGACTACCGTTGCCATTAATAGGTATAGGCTTTAGGTTTTAATTTATTTTATAACTGATAATAAGTCAACAGTATCATTCAATTAGAAAAACAATACAAAACTTCATCTTTTTGCCCTGTAGTATAGACTGAAAAAGTGCTTTCACAATCTGAAAAACAAAAACTTCTCTACTCTTCTTCAGGATGATCAC[A/T]AACTGACATTGGAGGAGCTCAGCAGGAAATATGGAACTGATCTGAACAAGGTAGGTTTAATGACAATTTTGGTGTGAAATAATAATGATGATGATGACCTCTAGAACATTTACATTAATATATTTGGATGATTTATATTTATGATTTATTTAATGATTTATACAACTTTATGTTGCAGAAGCCAGCAGCTATTAATGAATAAAATAACATTTCAATATTGTTTATAAGTGTTTTAATATTTATTAGCATGGCTGATTATGCTCTACTTTATAACTTTGCGCAGGGTTTGTCCATTACTCGAGCAAAGGAAATCTTAGCACGGGATGGACCAAATGCCCTGACTCCCCCTGTTACGACTCCAGAATGGGTGAAGTTCTGCAGGCAGCTCTTTGGTGGATTTCAGACTCTGCTGTGGATTGGTGCATTGCTCTGCTTCTTTGCATATTCGATCCAGGCTGCCTCAGAAGAAGAACCGGCGAATGACAACGTATGTACAAGGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25506
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103850 | Essential Splice Site | 62 | 1024 | 3 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 1563604)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 1659024 |
| GRCz11 | 1 | 1806818 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACTGACATTGGAGGAGCTCAGCAGGAAATATGGAACTGATCTGAACAAG[G/A]TAGGTTTAATGACAATTTTGGTGTGAAATAATAATGATGATGATGACCTC
Long Flanking Sequence:
GATTTAATTGTTTTATTAATAATAATGTGGTAAGATTTAAAATAAGACGGGAAGTCACAAGTACAGTTCTTAATTGCTGGGACAACATTCAAAAAATATGCAAAATTACATGATTTAACTGGGTCTAGATCACATAAAAAAAATAACATGATATTTATTTATTTATTTATTTTTTGCTTTTTTTGCATGTGATTGTTCTGTCACTTACTAACAAGAAAATTATCACATACAGCTCTGGAAAAAATGAACCAATCACTTTGACTACCGTTGCCATTAATAGGTATAGGCTTTAGGTTTTAATTTATTTTATAACTGATAATAAGTCAACAGTATCATTCAATTAGAAAAACAATACAAAACTTCATCTTTTTGCCCTGTAGTATAGACTGAAAAAGTGCTTTCACAATCTGAAAAACAAAAACTTCTCTACTCTTCTTCAGGATGATCACAAACTGACATTGGAGGAGCTCAGCAGGAAATATGGAACTGATCTGAACAAG[G/A]TAGGTTTAATGACAATTTTGGTGTGAAATAATAATGATGATGATGACCTCTAGAACATTTACATTAATATATTTGGATGATTTATATTTATGATTTATTTAATGATTTATACAACTTTATGTTGCAGAAGCCAGCAGCTATTAATGAATAAAATAACATTTCAATATTGTTTATAAGTGTTTTAATATTTATTAGCATGGCTGATTATGCTCTACTTTATAACTTTGCGCAGGGTTTGTCCATTACTCGAGCAAAGGAAATCTTAGCACGGGATGGACCAAATGCCCTGACTCCCCCTGTTACGACTCCAGAATGGGTGAAGTTCTGCAGGCAGCTCTTTGGTGGATTTCAGACTCTGCTGTGGATTGGTGCATTGCTCTGCTTCTTTGCATATTCGATCCAGGCTGCCTCAGAAGAAGAACCGGCGAATGACAACGTATGTACAAGGGGAAAAAATTTGTCTTTATTTCTAAACTGGCATAAATAATGACGATAAATAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19401
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 |
|---|---|---|---|---|---|
| ENSDART00000103850 | Nonsense | 102 | 1024 | 4 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 1563954)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 1659374 |
| GRCz11 | 1 | 1807168 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTACGACTCCAGAATGGGTGAAGTTCTGCAGGCAGCTCTTTGGTGGATTT[C/T]AGACTCTGCTGTGGATTGGTGCATTGCTCTGCTTCTTTGCATATTCGATC
Long Flanking Sequence:
AATACAAAACTTCATCTTTTTGCCCTGTAGTATAGACTGAAAAAGTGCTTTCACAATCTGAAAAACAAAAACTTCTCTACTCTTCTTCAGGATGATCACAAACTGACATTGGAGGAGCTCAGCAGGAAATATGGAACTGATCTGAACAAGGTAGGTTTAATGACAATTTTGGTGTGAAATAATAATGATGATGATGACCTCTAGAACATTTACATTAATATATTTGGATGATTTATATTTATGATTTATTTAATGATTTATACAACTTTATGTTGCAGAAGCCAGCAGCTATTAATGAATAAAATAACATTTCAATATTGTTTATAAGTGTTTTAATATTTATTAGCATGGCTGATTATGCTCTACTTTATAACTTTGCGCAGGGTTTGTCCATTACTCGAGCAAAGGAAATCTTAGCACGGGATGGACCAAATGCCCTGACTCCCCCTGTTACGACTCCAGAATGGGTGAAGTTCTGCAGGCAGCTCTTTGGTGGATTT[C/T]AGACTCTGCTGTGGATTGGTGCATTGCTCTGCTTCTTTGCATATTCGATCCAGGCTGCCTCAGAAGAAGAACCGGCGAATGACAACGTATGTACAAGGGGAAAAAATTTGTCTTTATTTCTAAACTGGCATAAATAATGACGATAAATATAGTAATTGTCATTATAATAATTTTCTTCTTTAAGGCCTTTGCTAAACAGCTAATCTTGACCATCTTCTCCCTTTGATAACTGTTGCTGTAATCTTTGGATAAAGAAATGTGATTAATGACAATCTGCATTACTTATTTGCAGCTTTACCTGGGACTTGTTCTTGCTTTTGTGGTCACAGTCAATGGATGCTTCTCATACTATCAGGACGCAAAGAGCTCCAGAATCATGGATTCATTCAGGAACCTTGTTCCTCAGGTATAAAAATGTAAATTCACTCTTTAAGCCAACAATATAGCTTTCACAACGAATAAATTCACATAATTTATCATTATGCAGAAAGCCCTGGTTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19402
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103850 | Nonsense | 157 | 1024 | 5 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 1564325)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 1659745 |
| GRCz11 | 1 | 1807539 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGTCACAGTCAATGGATGCTTCTCATACTATCAGGACGCAAAGAGCTCC[A/T]GAATCATGGATTCATTCAGGAACCTTGTTCCTCAGGTATAAAAATGTAAA
Long Flanking Sequence:
AACTTTGCGCAGGGTTTGTCCATTACTCGAGCAAAGGAAATCTTAGCACGGGATGGACCAAATGCCCTGACTCCCCCTGTTACGACTCCAGAATGGGTGAAGTTCTGCAGGCAGCTCTTTGGTGGATTTCAGACTCTGCTGTGGATTGGTGCATTGCTCTGCTTCTTTGCATATTCGATCCAGGCTGCCTCAGAAGAAGAACCGGCGAATGACAACGTATGTACAAGGGGAAAAAATTTGTCTTTATTTCTAAACTGGCATAAATAATGACGATAAATATAGTAATTGTCATTATAATAATTTTCTTCTTTAAGGCCTTTGCTAAACAGCTAATCTTGACCATCTTCTCCCTTTGATAACTGTTGCTGTAATCTTTGGATAAAGAAATGTGATTAATGACAATCTGCATTACTTATTTGCAGCTTTACCTGGGACTTGTTCTTGCTTTTGTGGTCACAGTCAATGGATGCTTCTCATACTATCAGGACGCAAAGAGCTCC[A/T]GAATCATGGATTCATTCAGGAACCTTGTTCCTCAGGTATAAAAATGTAAATTCACTCTTTAAGCCAACAATATAGCTTTCACAACGAATAAATTCACATAATTTATCATTATGCAGAAAGCCCTGGTTGTGCGTGATGGAGAAAAAAGTGTAATAGATGCAGAAGACGTAGTTGTGGGTGATCTTGTAGAGGTCAAAGGTGGAGACAGAATACCAGCTGATGTTCGAATCGTATCTTCACAAGGATGCAAGGTAAACAACAAACAAACAAAGACTTAAAAGTTGGCTTATTGTTGATCTCATGAAAACATCCCTGGCTTGCTCATCTCTCCAGGTGGACAACTCTTCCCTCACTGGAGAATCTGAGCCCCAAACTCGTGCTCCTGAAATGTCTAGTGACAACCCACTGGAGACCAGAAACATCGCATTTTTTTCTACCAACTGTGTTGACGGTACAAAATTCAGCCAGCTTTGCTTTATGTCTGGATAAATTAATCAGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8642
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:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103850 | Nonsense | 161 | 1024 | 5 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 1564338)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 1659758 |
| GRCz11 | 1 | 1807552 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGATGCTTCTCATACTATCARGASGCAAAGWGCTCCAGAATCATGGATT[C/A]RTTCAGGAACCTTGTTCCTCAGGTATAAAAATGTAAATTCACTCTTTAAG
Long Flanking Sequence:
GTTTGTCCATTACTCGAGCAAAGGAAATCTTAGCACGGGATGGACCAAATGCCCTGACTCCCCCTGTTACGACTCCAGAATGGGTGAAGTTCTGCAGGCAGCTCTTTGGTGGATTTCAGACTCTGCTGTGGATTGGTGCATTGCTCTGCTTCTTTGCATATTCGATCCAGGCTGCCTCAGAAGAAGAACCGGCGAATGACAACGTATGTACAAGGGGAAAAAATTTGTCTTTATTTCTAAACTGGCATAAATAATGACGATAAATATAGTAATTGTCATTATAATAATTTTCTTCTTTAAGGCCTTTGCTAAACAGCTAATCTTGACCATCTTCTCCCTTTGATAACTGTTGCTGTAATCTTTGGATAAAGAAATGTGATTAATGACAATCTGCATTACTTATTTGCAGCTTTACCTGGGACTTGTTCTTGCTTTTGTGGTCACAGTCAATGGATGCTTCTCATACTATCAGGACGCAAAGAGCTCCAGAATCATGGATT[C/A]ATTCAGGAACCTTGTTCCTCAGGTATAAAAATGTAAATTCACTCTTTAAGCCAACAATATAGCTTTCACAACGAATAAATTCACATAATTTATCATTATGCAGAAAGCCCTGGTTGTGCGTGATGGAGAAAAAAGTGTAATAGATGCAGAAGACGTAGTTGTGGGTGATCTTGTAGAGGTCAAAGGTGGAGACAGAATACCAGCTGATGTTCGAATCGTATCTTCACAAGGATGCAAGGTAAACAACAAACAAACAAAGACTTAAAAGTTGGCTTATTGTTGATCTCATGAAAACATCCCTGGCTTGCTCATCTCTCCAGGTGGACAACTCTTCCCTCACTGGAGAATCTGAGCCCCAAACTCGTGCTCCTGAAATGTCTAGTGACAACCCACTGGAGACCAGAAACATCGCATTTTTTTCTACCAACTGTGTTGACGGTACAAAATTCAGCCAGCTTTGCTTTATGTCTGGATAAATTAATCAGTAAATTATATGAATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16341
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 |
|---|---|---|---|---|---|
| ENSDART00000103850 | Essential Splice Site | 169 | 1024 | 6 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 1564440)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 1659860 |
| GRCz11 | 1 | 1807654 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CAACANNATAGCTTTCACAACGAATAAATTCACRTAATTTATCATTATGC[A/T]GAAAGCCCTGGTTGTGCGTGAWGGAGAAAAAAGTGTRATMGATGCAGAAG
Long Flanking Sequence:
TCTTTGGTGGATTTCAGACTCTGCTGTGGATTGGTGCATTGCTCTGCTTCTTTGCATATTCGATCCAGGCTGCCTCAGAAGAAGAACCGGCGAATGACAACGTATGTACAAGGGGAAAAAATTTGTCTTTATTTCTAAACTGGCATAAATAATGACGATAAATATAGTAATTGTCATTATAATAATTTTCTTCTTTAAGGCCTTTGCTAAACAGCTAATCTTGACCATCTTCTCCCTTTGATAACTGTTGCTGTAATCTTTGGATAAAGAAATGTGATTAATGACAATCTGCATTACTTATTTGCAGCTTTACCTGGGACTTGTTCTTGCTTTTGTGGTCACAGTCAATGGATGCTTCTCATACTATCAGGACGCAAAGAGCTCCAGAATCATGGATTCATTCAGGAACCTTGTTCCTCAGGTATAAAAATGTAAATTCACTCTTTAAGCCAACAATATAGCTTTCACAACGAATAAATTCACATAATTTATCATTATGC[A/T]GAAAGCCCTGGTTGTGCGTGATGGAGAAAAAAGTGTAATAGATGCAGAAGACGTAGTTGTGGGTGATCTTGTAGAGGTCAAAGGTGGAGACAGAATACCAGCTGATGTTCGAATCGTATCTTCACAAGGATGCAAGGTAAACAACAAACAAACAAAGACTTAAAAGTTGGCTTATTGTTGATCTCATGAAAACATCCCTGGCTTGCTCATCTCTCCAGGTGGACAACTCTTCCCTCACTGGAGAATCTGAGCCCCAAACTCGTGCTCCTGAAATGTCTAGTGACAACCCACTGGAGACCAGAAACATCGCATTTTTTTCTACCAACTGTGTTGACGGTACAAAATTCAGCCAGCTTTGCTTTATGTCTGGATAAATTAATCAGTAAATTATATGAATAAATTAATGCTTGAGCATGACAATATTCAATAGGTGCTGCCAGAGGGGTTGTCGTCAACACCGGTGACCGCACTGTCATGGGTCGCATTGCATCTCTTGCCTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6572
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 |
|---|---|---|---|---|---|
| ENSDART00000103850 | Nonsense | 460 | 1024 | 10 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 1567646)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 1663066 |
| GRCz11 | 1 | 1810860 |
KASP Assay ID:
554-5187.1 (used for ordering genotyping assays)
KASP Sequence:
TTGCAGAGAGACACAGCTGGTGATGCCTCAGAGTCTGCGCTGCTSAAGTG[T/A]ATTGAGYTGTCTTGTGGYTCAGTTGCTGAAAYGAGAGAAAAYTACACAAA
Long Flanking Sequence:
CCTTTATTCATTTACTGTATGATTTGTTTATGGGTAAAACAAAGACCATGCAGGTCAGGTAGTTTAAACGGTAGGCTACAAATAATTAATTGGTCATTAATTAATTAATTATTCATAATCAAAAATCGAATCGTGCCTTTAGAATCGAAAATGTAATCGAATCGAGGATTTGGAGGATCGTGACACCCTTAATTATTTTGTCCATATTGCACAGCCCTAGCTTGCAGCAGTAAAATGTCTTTAGGGGGCATTTGAGATTTAATATGGAGTTGAAGTTGTACTGGCAGGGATTGAAGTTGGGGATTAAATGACCATTGCACGACCTCTTCCACTTTTTCTGAACTGAGGGGTCTTTGACCAAGCCACCAGATTTCAAATTGCTGATTAATTGCAGAAGAAAAGTTTTGTATATGTATACCTACACTAAACAATGCCACTTCTCTTTCTGTTTTGCAGAGAGACACAGCTGGTGATGCCTCAGAGTCTGCGCTGCTCAAGTG[T/A]ATTGAGCTGTCTTGTGGTTCAGTTGCTGAAATGAGAGAAAACTACACAAAGCTTGCAGAAATCCCGTTCAACTCCACTAACAAGTATCAGGTATGTTTTCTTTGGAGTTGTTCTTTGGAGATTCGTTTTTAGATTAGGCCTTAATAAACAAATATCCCTCTTTCAGGTTTCAATCCACAAGAATCCCAATTCCTCAGAACCAAAACACTTGCTGGTGATGAAGGGAGCACCTGAGAGAATATTGGAGCGCTGCTCCACCATTTTAATTCAAGGAAAAGAGCAGCCTATGGATGATGAAATGAAAGATGCTTTTCAGAATGCTTATTTAGAACTTGGAGGTCTTGGAGAAAGAGTCCTGGGTAAAGATACCACTGAAAGTTATGACGAGAAAAAATGAGCACATGATAAACCCCAGTATTATATATAACTCTGCATTCTCCCTCACAGGCTTCTGCCACTTCTGCCTTCCCGATGATCAGTTTCCTGAGGGTTTTGCATTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44503
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:
G > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103850 | Essential Splice Site | 766 | 1024 | 16 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 1569053)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 1664473 |
| GRCz11 | 1 | 1812267 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTGAATAATTCTGAAGAGTCACATCTCAAGCATATCTTCAATATGTTTA[G/T]GTCGTCTGATCTTCGACAACTTGAAAAAATCCATTGCCTACACATTGACT
Long Flanking Sequence:
ATGTGACTCTAGAGATGCTAAAGCCTGCGTGATCCATGGAGGAGAACTGAAAAATATGACAGATGAACAGCTGGATGACGTCCTTCAACATCATACAGAAATTGTGTTCGCCAGAACGTCTCCACAACAAAAGCTGATCATTGTGGAAGGATGTCAGCGACAGGTACCATCAGATATATTCAGTAGCTGTTAACAGTGGAGACTTTCATGCGGCAGGTACCAATGTACAATAATTCATTGCTTACTCTTATCAGGGTGCCATTGTAGCCGTAACCGGTGATGGAGTCAATGATTCTCCAGCTCTGAAGAAGGCTGACATTGGTGTGGCTATGGGTATTGCTGGATCTGACGTATCCAAACAGGCTGCTGACATGATCCTTCTGGACGACAACTTTGCCTCAATTGTCACCGGAGTAGAAGAAGGTAAGTCATATTTTGGGAACGTCCTTGACTGAATAATTCTGAAGAGTCACATCTCAAGCATATCTTCAATATGTTTA[G/T]GTCGTCTGATCTTCGACAACTTGAAAAAATCCATTGCCTACACATTGACTAGTAAGATCCCGGAGATGTCACCCTTCCTCATGTTTGTCCTTGTTGGTATTCCTCTACCTTTGGGCACCGTCACCATTCTCTGCATTGACCTGGGCACTGACATGGTAGGCAATATCAGTTTAGTTTTATAAATGTAGAGAACTCTGCAATATGCACACATAAATGCGTTTGTCTGTTTGGCGTCACAGGTTCCTGCAATCTCATTGGCTTATGAAACTGCTGAAAGTGACATCATGAAGAGACAACCCAGAAATGCTGCAACCGATAGGCTGGTGAATGAGAGGCTGATTAGTGTGAGCTATGGTCAAATTGGTACGAGCATTCTAATACTGTACAGTGTGAACTGCATTTTGCTCCTGTTTTTGTTCTTACATGTCTTCATGTTCATTTTCAGGCATGATACAAGCAGTTGGCGGGTTCTTTACATACTTTGTGATTCTTGCTGAGAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9018
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103850 | Nonsense | 862 | 1024 | 18 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 1569507)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 1664927 |
| GRCz11 | 1 | 1812721 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTCCTGTTTTTGTTCTTACATGTCTTCATGTTCATTTTCAGGCATGATA[C/T]AAGCAGTTGGYGGGTTCTTTACATACTTTGTGATTCTTGCTGAGAATGGS
Long Flanking Sequence:
AATAATTCTGAAGAGTCACATCTCAAGCATATCTTCAATATGTTTAGGTCGTCTGATCTTCGACAACTTGAAAAAATCCATTGCCTACACATTGACTAGTAAGATCCCGGAGATGTCACCCTTCCTCATGTTTGTCCTTGTTGGTATTCCTCTACCTTTGGGCACCGTCACCATTCTCTGCATTGACCTGGGCACTGACATGGTAGGCAATATCAGTTTAGTTTTATAAATGTAGAGAACTCTGCAATATGCACACATAAATGCGTTTGTCTGTTTGGCGTCACAGGTTCCTGCAATCTCATTGGCTTATGAAACTGCTGAAAGTGACATCATGAAGAGACAACCCAGAAATGCTGCAACCGATAGGCTGGTGAATGAGAGGCTGATTAGTGTGAGCTATGGTCAAATTGGTACGAGCATTCTAATACTGTACAGTGTGAACTGCATTTTGCTCCTGTTTTTGTTCTTACATGTCTTCATGTTCATTTTCAGGCATGATA[C/T]AAGCAGTTGGCGGGTTCTTTACATACTTTGTGATTCTTGCTGAGAATGGCTTCTTGCCCTACGATCTGGTGGGAATTCGAGTTGGTTGGGAAGACAGATTTCTTAATGACCTGGAAGACAGCTATGGCCAGCAATGGGTAGGTGCTACAGTTCTACCAAACCTAACAGAAATCAAACCAATATTTCTATATGCTTTTTTAAAATGATCTACATGTTATTTCTCATCTGATGTAGACCTATGAGAGCAGAAAGATTGTGGAGTACACATGCCACACAGCCTTCTTTGCCAGTATTGTGATTGTGCAGTGGACTGACCTGTTAATCTGCAAGACCAGAAGACTTTCCATCTTCCAGCAGGGAATGAAGTATGTTCACAATGGGGGGTACAGTCAAAGAAACAAAATTGGGCTGATGTCATGCACACTGAATTGTTTCTTCAGCTCCAACTCATACTTGCCTGTTGCATCTCTGAACGACTTTTTTGGCCAGTTATTAGAGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18431
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:
G > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103850 | Essential Splice Site | 907 | 1024 | 18 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 1569645)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 1665065 |
| GRCz11 | 1 | 1812859 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGGAAGACAGATTTCTTAATGACCTGGAAGACAGCTATGGCCAGCAATGG[G/T]TAGGTGCYACAGTTYTACCAAACCYAACAGAAATCAAACCAATATTTCTA
Long Flanking Sequence:
TGTTGGTATTCCTCTACCTTTGGGCACCGTCACCATTCTCTGCATTGACCTGGGCACTGACATGGTAGGCAATATCAGTTTAGTTTTATAAATGTAGAGAACTCTGCAATATGCACACATAAATGCGTTTGTCTGTTTGGCGTCACAGGTTCCTGCAATCTCATTGGCTTATGAAACTGCTGAAAGTGACATCATGAAGAGACAACCCAGAAATGCTGCAACCGATAGGCTGGTGAATGAGAGGCTGATTAGTGTGAGCTATGGTCAAATTGGTACGAGCATTCTAATACTGTACAGTGTGAACTGCATTTTGCTCCTGTTTTTGTTCTTACATGTCTTCATGTTCATTTTCAGGCATGATACAAGCAGTTGGCGGGTTCTTTACATACTTTGTGATTCTTGCTGAGAATGGCTTCTTGCCCTACGATCTGGTGGGAATTCGAGTTGGTTGGGAAGACAGATTTCTTAATGACCTGGAAGACAGCTATGGCCAGCAATGG[G/T]TAGGTGCTACAGTTCTACCAAACCTAACAGAAATCAAACCAATATTTCTATATGCTTTTTTAAAATGATCTACATGTTATTTCTCATCTGATGTAGACCTATGAGAGCAGAAAGATTGTGGAGTACACATGCCACACAGCCTTCTTTGCCAGTATTGTGATTGTGCAGTGGACTGACCTGTTAATCTGCAAGACCAGAAGACTTTCCATCTTCCAGCAGGGAATGAAGTATGTTCACAATGGGGGGTACAGTCAAAGAAACAAAATTGGGCTGATGTCATGCACACTGAATTGTTTCTTCAGCTCCAACTCATACTTGCCTGTTGCATCTCTGAACGACTTTTTTGGCCAGTTATTAGAGTAATAATAAATCCCTGCATTGTTATTTAAGAAATTATTCTGCACTGATTCTAAGACTTTCAAAATGCATTGTGAATCTCGACTGAGAGCTTAGTTTAACCAACAGATGGCACTGTATGCTTTACAAACAGCCTTATTCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31188
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103850 | Nonsense | 941 | 1024 | 19 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 1569841)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 1665261 |
| GRCz11 | 1 | 1813055 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGCCAGTATTGTGATTGTGCAGTGGACTGACCTGTTAATCTGCAAGACC[A/T]GAAGACTTTCCATCTTCCAGCAGGGAATGAAGTATGTTCACAATGGGGGG
Long Flanking Sequence:
AAGAGACAACCCAGAAATGCTGCAACCGATAGGCTGGTGAATGAGAGGCTGATTAGTGTGAGCTATGGTCAAATTGGTACGAGCATTCTAATACTGTACAGTGTGAACTGCATTTTGCTCCTGTTTTTGTTCTTACATGTCTTCATGTTCATTTTCAGGCATGATACAAGCAGTTGGCGGGTTCTTTACATACTTTGTGATTCTTGCTGAGAATGGCTTCTTGCCCTACGATCTGGTGGGAATTCGAGTTGGTTGGGAAGACAGATTTCTTAATGACCTGGAAGACAGCTATGGCCAGCAATGGGTAGGTGCTACAGTTCTACCAAACCTAACAGAAATCAAACCAATATTTCTATATGCTTTTTTAAAATGATCTACATGTTATTTCTCATCTGATGTAGACCTATGAGAGCAGAAAGATTGTGGAGTACACATGCCACACAGCCTTCTTTGCCAGTATTGTGATTGTGCAGTGGACTGACCTGTTAATCTGCAAGACC[A/T]GAAGACTTTCCATCTTCCAGCAGGGAATGAAGTATGTTCACAATGGGGGGTACAGTCAAAGAAACAAAATTGGGCTGATGTCATGCACACTGAATTGTTTCTTCAGCTCCAACTCATACTTGCCTGTTGCATCTCTGAACGACTTTTTTGGCCAGTTATTAGAGTAATAATAAATCCCTGCATTGTTATTTAAGAAATTATTCTGCACTGATTCTAAGACTTTCAAAATGCATTGTGAATCTCGACTGAGAGCTTAGTTTAACCAACAGATGGCACTGTATGCTTTACAAACAGCCTTATTCTGCTTGCCTCCAATTCATTTCACGTAACACCTGAACCTAACATAATCATTAATAAAGATAAGAAAGATTTAAGCAAATTAAAGATTAAAGAAGATCTCTTGAATTAAACGCCGAGGTGCGACTAGCATGACTCCAAACACATTTTTCGAATTCCATTTTTAAAAATCCTTCGAGTGCATGGTTAAAAACTGGAGTTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15962
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103850 | Nonsense | 982 | 1024 | 20 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 1571964)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 1667384 |
| GRCz11 | 1 | 1815178 |
KASP Assay ID:
2259-0061.1 (used for ordering genotyping assays)
KASP Sequence:
GCAGCWTTCCTGTCCTACTGCCCAGGCATGGAAGTTGCTGTCAGAATGTA[T/A]CCACTGAAGYGGGTGGAATCATACTAYATTTAATATGTYAAYAATGTTAA
Long Flanking Sequence:
ATGAAAAAAAAAAACCTACTCAGACGAGGAACAAACCTGGGTCCGCAGTGTCATAACCTAACATGCTAACCACTGAACCACAACAGCTGTGCATACTAGGGTGGCTCGTCTAAGTTATATCATCATTAACCAGGCTGCGAGAAAAAGATAAAAAGAGCAGAGCTGCGGTAAAATAATCAATAAGAAGACTGTGGTCAAGTAAAAAAAATAATTAATTTAAAAAGTGTGACTGCTGAGAGCAACAGATTCTGGAGCTAGGGACACCGGCCCTCACGGCCAAAAGACGGACCGGCCCACCGGGAATTCTCCCGGTCTTCCCGATTAGCCAGTCCGGGCCTGGAACCGTGATACAGTCAACTACTAGCTACACTAATCATAATCTCTCTTTTTTTTTTCATCTTTTCTAGGAACCGGGTCCTCACCTTTGGTTTGTTGGAGGAAACTGCTCTGGCAGCATTCCTGTCCTACTGCCCAGGCATGGAAGTTGCTGTCAGAATGTA[T/A]CCACTGAAGTGGGTGGAATCATACTACATTTAATATGTTAATAATGTTAAGCGTTTTTGAATTAATTAATGGTGTTTTCTCTTTCCGTTTAGACCTTTGTGGTGGTTCTGTGCCTTCCCATATTCGCTACTCATTTTCATATATGACGAAGTTAGAAAATATATCCTCAGGCGAAACCCAGGAGGTAAATATCCATTTAAATCTCACATCTAACCTATTCCACATATAAGATCAGTTGAGTTTATTTTGCAATTGTTGTTTCAATTTGAGTCGATGCATTTCCTTTACTTTTGGATGATATAGAAAAAGTAATATCTGTGTTGTTTTGTTTCAGGCTGGGTGGAAAGAGAAACATACTACTAAAGCCAGAAGACGCTCTCTTGGGAACATGTGCAGGGAGAGATTGTATAATTTGTTAAATATCTAAATTAATGTCATTTTAAGATTTTAAATGTGACAGTTTAATAAATGAGAGGAGTTTATTTTTGTGTCTTGAACAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa5932
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 |
|---|---|---|---|---|---|
| ENSDART00000103850 | Essential Splice Site | 985 | 1024 | 20 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 1571974)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 1667394 |
| GRCz11 | 1 | 1815188 |
KASP Assay ID:
554-3647.1 (used for ordering genotyping assays)
KASP Sequence:
TGTCCTACTGCCCAGGCATGGAAGTTGCTGTCAGAATGTATCCACTGAAG[T/C]GGGTGGAATCATACTAYATTTAATATGTTAATAATGTTAAGYRTTTTTGA
Long Flanking Sequence:
AAAACCTACTCAGACGAGGAACAAACCTGGGTCCGCAGTGTCATAACCTAACATGCTAACCACTGAACCACAACAGCTGTGCATACTAGGGTGGCTCGTCTAAGTTATATCATCATTAACCAGGCTGCGAGAAAAAGATAAAAAGAGCAGAGCTGCGGTAAAATAATCAATAAGAAGACTGTGGTCAAGTAAAAAAAATAATTAATTTAAAAAGTGTGACTGCTGAGAGCAACAGATTCTGGAGCTAGGGACACCGGCCCTCACGGCCAAAAGACGGACCGGCCCACCGGGAATTCTCCCGGTCTTCCCGATTAGCCAGTCCGGGCCTGGAACCGTGATACAGTCAACTACTAGCTACACTAATCATAATCTCTCTTTTTTTTTTCATCTTTTCTAGGAACCGGGTCCTCACCTTTGGTTTGTTGGAGGAAACTGCTCTGGCAGCATTCCTGTCCTACTGCCCAGGCATGGAAGTTGCTGTCAGAATGTATCCACTGAAG[T/C]GGGTGGAATCATACTACATTTAATATGTTAATAATGTTAAGCGTTTTTGAATTAATTAATGGTGTTTTCTCTTTCCGTTTAGACCTTTGTGGTGGTTCTGTGCCTTCCCATATTCGCTACTCATTTTCATATATGACGAAGTTAGAAAATATATCCTCAGGCGAAACCCAGGAGGTAAATATCCATTTAAATCTCACATCTAACCTATTCCACATATAAGATCAGTTGAGTTTATTTTGCAATTGTTGTTTCAATTTGAGTCGATGCATTTCCTTTACTTTTGGATGATATAGAAAAAGTAATATCTGTGTTGTTTTGTTTCAGGCTGGGTGGAAAGAGAAACATACTACTAAAGCCAGAAGACGCTCTCTTGGGAACATGTGCAGGGAGAGATTGTATAATTTGTTAAATATCTAAATTAATGTCATTTTAAGATTTTAAATGTGACAGTTTAATAAATGAGAGGAGTTTATTTTTGTGTCTTGAACATTTTTGATTTA
Associated Phenotype:
Not determined