ZMP
atm
Ensembl ID:
ZFIN IDs:
Description:
Ataxia telangiectasia mutated [Source:UniProtKB/TrEMBL;Acc:Q59IS5]
Human Orthologue:
ATM
Human Description:
ataxia telangiectasia mutated [Source:HGNC Symbol;Acc:795]
Mouse Orthologue:
Atm
Mouse Description:
ataxia telangiectasia mutated homolog (human) Gene [Source:MGI Symbol;Acc:MGI:107202]
Alleles
There are 14 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa14977 | Essential Splice Site | Available for shipment | Available now |
sa42486 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa42485 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa35808 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa35807 | Essential Splice Site | Available for shipment | Available now |
sa24975 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa15974 | Nonsense | Available for shipment | Available now |
sa42484 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa6364 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa22587 | Essential Splice Site | Available for shipment | Available now |
sa42483 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa17959 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14977
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000002922 | Essential Splice Site | 195 | 2452 | None | 51 |
ENSDART00000086173 | Essential Splice Site | 194 | 2458 | None | 54 |
Genomic Location (Zv9):
Chromosome 15 (position 6498174)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 6616067 |
GRCz11 | 15 | 6613400 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTGCCTGTGAGGTTGCTGAATGACCTGTGTGACATGTCCAAACAATTGG[T/G]AAGATTTATTAGCATTCCATAATTATAGCSAGYTAGTGGGAATTTYATTT
Long Flanking Sequence:
ATATTTAAAAAAAAAAATACATATATATATATATATATATATATATATATATATATATATATATATATATATTTATTTTTTTATTTATTAAATATTTAAATAAATAAAAAGTTATTTATTTTTATATATATATAAAAAAAATATATATATATGTATATATATATATATATATATATATATATATATATATATTATATATATAATATATTTTCTCTTTGTAAACTGTCCAATGAAAAGCCATTTTTGGTCTGTCAAAGGAACTACTTTTGTGTCATTTTAATTATACCATTTGCACATCTGTTTACATAATGAATTCTATTGAGTGACCAAGATCTTTGTTGTCTTGTGTTGTGTTTTCAATGCAATTGTCAAAGAGGTTCATAGATGTCTGAATGATTTTTTTTAGGGGGACAAAATGTCGACCATCTCACGCACGTTATTCATGAAGACTTTGCCTGTGAGGTTGCTGAATGACCTGTGTGACATGTCCAAACAATTGG[T/G]AAGATTTATTAGCATTCCATAATTATAGCCAGTTAGTGGGAATTTTATTTTGTATAACAACATAAAATGAAACAAGACAAAAAAAAAATAGATGGCGAAATGAGAAATAAAGATGTGTTTCTTTTAGGATGTTTTGATTCAGTTTTGTTCCACAAGTGCGGGATGAGTGATGTTTAATTAATTATCTCTAATTAATCAGAGATTAATATTTATCTCTTTCTGACTATGACATAAATCATACCTTTTACTTTTACAGTTGAGCAACTCTGGTAAAAAAGACACCATAGTCATAGAAAGCGAACCAGTGGATATGCAAACGAGCAGAATCCAAGTGGACAATCAGGAAGAGATTGATCTGTTTGAAGATGGTGATGGGACCCAACACATCACTTCCAGACCTTCCCAGTCTAACGAAGAAGCTGCTGATTCAAAGTTCATCACAGGTTTGAAGAAAGACTGGAAGATATACATGTGATTTTATATTTTTCAGTTTAAGATCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42486
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000002922 | Essential Splice Site | 351 | 2452 | 7 | 51 |
ENSDART00000086173 | Essential Splice Site | 349 | 2458 | 9 | 54 |
Genomic Location (Zv9):
Chromosome 15 (position 6495562)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 6613455 |
GRCz11 | 15 | 6610788 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGCATCTCTGGATCCTGAAGAATTTAATGCTCTTCTCAGACCTCTAGCG[T/G]AAGGATATATCCATTTCGCTTATCTTTTATGATTATTATATTTTGTGATG
Long Flanking Sequence:
AGCTTCCAAAGCAATAGTGACAGGAGATAATCAAAATATGTTAAGAGATGCAACATTTTTGTCAGATATTCAGCTGATCACTACACTGGCCAATTAGACAAGATCACGCTTTTCAAAATGATGAGCTTTGTATATATTGCAGAAAAAAATGAAGTGAGGCAAAGAGAAAGGGGAATCATGTGTGTGGTAAATTGTATTTTTTTAAACATGAACAGTGTAAAAATTGGATTATAACACAATTTTAGCTGTCATATAACTGCATTAAATAATTTGAACTAATATTGATTGTTCATAATTAAGTAGTCAGACTCTTGATTATTGTCGTGAAATATGGTCCACATCTTGTTGTAGTATGTCTTGAATGTATTAAATTGTAATGTCCTCCATCTAAAGTCTTTCATTCTTGTCTTGCGCAGTATCTGTCCTTGCTGAAGAAACTCCCAGCTGAAGTCGCATCTCTGGATCCTGAAGAATTTAATGCTCTTCTCAGACCTCTAGCG[T/G]AAGGATATATCCATTTCGCTTATCTTTTATGATTATTATATTTTGTGATGATAGAGTGCAGCCCTAGTTTATATATACACTCACCGGCCACGTTATTAGGTACGCCTGTCCAACTGTTAACGCAATTTATACTCAGCCATCACATGGCGGCAACTTCATGCATTTAGGCATGTAGACGCGGTCAACACGATCTGCTGCAGTTCTAACCGAGCATCGGAATGGGAAAGAATGTCTTGTTGATGCCAGAGGTCAGATGAGAATGGCCAGACTGGTTCAACCTTATAGAAAGGCAACAGTAACTGAAATAACCACTTGTTATAATCGAGGTATGCAGAAGAGCATCTCTGAATGCACAACATGTCCAACCTTGAAGGGGATGAGCTACAGCAGCAGAAGACCACACCGGGTGCCACTCCTGACAGCTAAGAACAGGAAACCGAGGCTACAATTCGCACAGGCTCATCCAAATTGGACAATAGAAAATTGGAGAAACGTTGCCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42485
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 |
---|---|---|---|---|---|
ENSDART00000002922 | Nonsense | 809 | 2452 | 17 | 51 |
ENSDART00000086173 | Nonsense | 807 | 2458 | 19 | 54 |
Genomic Location (Zv9):
Chromosome 15 (position 6474321)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 6592214 |
GRCz11 | 15 | 6589547 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAATTCTGGTCGCAGTCTGTCAGAAGGCCGACGAGACCACCAATGCCTA[C/A]GAGAGGCACCGCATACTGATGATGTACCATTTATTTGTCAGCCTGCTGCT
Long Flanking Sequence:
AAATTATGCTACTGTAAGAAGTGTTTATTTAGAAATAGTTCTCCAGTACCGATAGCAGAACCGTTAACGTCCAAGCTTATCGATACTTCGGTCTAATGTGGCACCGATACCGATAAAGTACTGAGTTTCGGTACCCATCCCTAGTCATCATCTATTGAAAAAATGACTACATCTGAATCTAATGCAATTTCATAAGACAGCTCTATTTTTGTCTTCAGAGAGCTGGATCCTGCTCCAAACCCACCATTCTTCAGCTCATATGTGATCAAAGCCACACTGGATTACCTGAGCAAATGTCACAGTGCCAACCACAAATCTCTGGTTGCCATCCTGTCCAAGACTCCAGTGAGCCTACTTCTAATAATTATATAATCACAATTAAATACCCAGCGAGTCAACGACTGCTTTGGCGCTAAGTCTGTGTTCTGTATGTTTCAGATGTCCATTCAGAGAATTCTGGTCGCAGTCTGTCAGAAGGCCGACGAGACCACCAATGCCTA[C/A]GAGAGGCACCGCATACTGATGATGTACCATTTATTTGTCAGCCTGCTGCTCAAGGAGGTGAAGGATGGGCTTGGTGGAGCCTGGGCGTTTGTGCTGCGGGACATCATCTATACGCTCATTCACCACATCAACAGCAGGTCTGCTTGCATTTTTCAGCATGCTTTAGGGTTGTAAAGGTTGTGTTTCTGCCAAGTTCACAATTTTTTAAACATTTTCAAACAACATTGAATGTTCAAACATTCAAACAACGTCACATCTTAAGGCTGAATTATACTGCGTTGAGTGATGCCTTGCACGTAGCCGTGCATTTATACTTCTGCATTCTGTTTGTGTTGCTCTGACAATTTCACTTCTAAAACGCTTACTGGTTGGGTCGAGTTTCTTCATGGGTTTATTGTTTACAATTGAAATACCTGTAATACTAGCTCACTGTACACGTAGCTCACACTTGCTCATTAGGAGGCGGGATCCAGCATACATGCAACAAATTTAATCATAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35808
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 |
---|---|---|---|---|---|
ENSDART00000002922 | Nonsense | 907 | 2452 | 18 | 51 |
ENSDART00000086173 | Nonsense | 913 | 2458 | 21 | 54 |
Genomic Location (Zv9):
Chromosome 15 (position 6471823)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 6589716 |
GRCz11 | 15 | 6587049 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAGCCACCTGCAGGTCATTGTGGGTACTCTCACAGCACAGGTCACTGAA[C/T]AATCTGCAATATCTGAGCAGGTGAGACAGCACAGAAAATGTGAAGTGCAT
Long Flanking Sequence:
GATTAATCTAGATTAAAATGGCTCATTTGAATTCTGCCGAAGGCATTCAGAATATGTGTGCTACCAAAATAATAAGTCTTTGAGAATGGGTTTCTCAAGCCAGGTGGCGCATTAGACCAGGGGTTCATCTCCGGTTTCCAAATTGCATCACAAACTGCTTGAGAAACTGTTGAACTGAACTGAATGAAATGTTTACGAGTTAAAGTGAAACTGCCGAACTGCAGTTAAAATCAGGCCTCCTGCTGATTTGATTCAGAAGGGCACTCTTTACACCTGCAAAGTAGAAACCCTTATTTTGTAGCTGCCAGCTAATTTCAAATGATTGAGGTCTTGTCTTTTGCTGCAGATCATCTCAGCAGGATGAAGTGTCCACTCGCAGTCTCTCCCTCTGCTGTGACCTGCTGTCGCTGGTCTGTCAGACGGCTGTGGAATACTGCGACGATGCTCTAGAGAGCCACCTGCAGGTCATTGTGGGTACTCTCACAGCACAGGTCACTGAA[C/T]AATCTGCAATATCTGAGCAGGTGAGACAGCACAGAAAATGTGAAGTGCATGTGGTTCACAAGAAATAGAGATCTCCAAAAGCTTCCAAGGAGTCCTTAATATTAAATGAAATAAGATAAAATAAGCTTTAAATTAAGAACCAACATTTTTAGAGTTATACCAGGAAATATTTTTGTAAGATTGTTTTTGGCGAACCCTAAAACTGTGAGGAAAAATTTATAAATAAGTTATAACAAAAATAATCCAATAAAAGCAAAACATTCCACTTCATTTTATGGACACTATTTACCAAATAAAGTTGTTAATATTATTATTTTAAACAAATGTAATATAGTACATAAATAAAACATTGCTTGGAAATATAGAATTATTATTATTAATTTTTATAGTAATGATTGCAGATGTGGAATTATGGAAATTGAAATAATTATTTCTCTTAAATTTATTTAAGAGACTAATGTTTTCTGATTATACACATAATTAAAGTATTTTTAATTTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35807
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 |
---|---|---|---|---|---|
ENSDART00000002922 | Essential Splice Site | 969 | 2452 | 20 | 51 |
ENSDART00000086173 | Essential Splice Site | 975 | 2458 | 23 | 54 |
Genomic Location (Zv9):
Chromosome 15 (position 6465507)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 6583400 |
GRCz11 | 15 | 6580733 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTACTCTTTATTTAATGTGCCTGCTTCTCCCTTTTTCCATCTTTTGCA[G/T]GAAATTGAGCATTTTCTGTCTGTTGCATCTTGTGATTCTTTGCCCTTGGC
Long Flanking Sequence:
GATGTTTCTAAATGGTATGGGGTTTTTTATGTTCGTTAGTGGGAGAGGCGGTGGCGGCGCCACAGGGAGCCTTCTGTACATAACATACTCCACTATTTTAATGTAAAACTCACGGAATGCTAACGCATACAGACACATTGCAGTCGCTGGTGACGATTGTGTTTGTAGCTAAATCATACCTGCCAAACTTACGTTTTTCGAGAGTCTCTCGTATTTCACACCCATCTTCTGCCACCCTTCCATTATGTTATTTCTTTTGGTAATCTTCCGTAATTTCATGCATTTTACACTCATAGATGTTGTTCATGCCCACACAGCAATATTACACATCAACTAAAGTTTAAAATATGATATCATAGTGGACCACCCCTTTAAGAAAATATAAGTCAGCTGGTGATCGTGGCAAGTTATTATGGTACTTGAAATCGATCATTTATACTTTTAACATTTTTCTACTCTTTATTTAATGTGCCTGCTTCTCCCTTTTTCCATCTTTTGCA[G/T]GAAATTGAGCATTTTCTGTCTGTTGCATCTTGTGATTCTTTGCCCTTGGCCCGTTTGGAGGGATTGAAAGATTTGAAAAGGCAGCTTCACAGCCATAAACAGCAGATTGGACAACTTTTGAAAGAATGCCATGGTCAGAATCATGACACTTTTCTAAACTATTACGCCTCATTCACACGGGGCTTTAGCGTCAAGGCTTGACAGTGGGCGTGTCTGAAGTTGGGGCTGACGCGATCGTCATAGCAGCGTCAGCCAATGAAATTCAGTCAGCAATATGCCACTGTCTAGCTGGTGTATTTGCTTACAGCGATCTGATTTGCTGACGCTTCCATCGGCGCTTGAAAAGTTGAGCTAGTCCCAACTTCTGCAGCGAGCAACGCCTCTGAAGCGGCGCCGACAGATCCACAATGCAGTTCGGCAATGCCTGACGTCACCCATTTAAAGTGAATGGGAAGTGTTGACGCTGACGCCCAGTGTGAATGGGGCGTTAGTAGTGTTAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24975
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 |
---|---|---|---|---|---|
ENSDART00000002922 | Nonsense | 1357 | 2452 | 27 | 51 |
ENSDART00000086173 | Nonsense | 1363 | 2458 | 30 | 54 |
Genomic Location (Zv9):
Chromosome 15 (position 6455994)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 6573887 |
GRCz11 | 15 | 6571220 |
KASP Assay ID:
554-7746.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTACTCTGAGATCTACGTCGACAAGATCAGATCCAACATGGAGCAGAAT[C/T]GAAGGTACAGTACTGGCGGAATACATAAATGAATGCATTCAAAAGCTTAG
Long Flanking Sequence:
TTGAATGCTAGCAATACAATTAGCTTCAGCCTGACTAAAGAAATTCTACTTTAAGATGAAAAACTGTAAAAATTATGAGGAAAATCACAGTGGAAATGTTTGAAAGCATTGACATATATTTAACAAACTTATGTAAAATGTGACCACAAGCTGGAAAAACTTGATTTATAAATGAATTATAAAATTATATTTCAACACTTGCCGAGGACAGGACTTATGTATGTTTTTTTGTGTGGGTCCATGATCTGTAGTTTGTTTTATAGATCAATTATAATTAAGTTCTAGTAAAATAGTTCCAATGGAACCTCACTGATTGTAGTATGTGTTAATTGTTTTGTTTTTGAAGTAATGAGTACGGGACGGTGTGCGATTCCAATTTTTGGCTGGATCTGAATTATCTGGAGGTGGCTGGAGCCGCTCAGATGTGTTCTGCCCATTTCACTGCTCTCCTTTACTCTGAGATCTACGTCGACAAGATCAGATCCAACATGGAGCAGAAT[C/T]GAAGGTACAGTACTGGCGGAATACATAAATGAATGCATTCAAAAGCTTAGGCAGCTGACTTGTCATCAGACTGACGTCATCGACTTTCGCTTTAAGATTTAAAGTGCTAGCATTGCACCAGACCCCTTTAAGTGGTGTCGTTTTAAAGTGTAGAATCTATGTTATATGCACATATGCATCACTTTGGTTTTTATTCTACTGTACAAAAGTTATTTACACGTAAATGCCCAATATTTTGGAGACCCGAGCTCTGGATTTTACATTGGTTCATTTTTATATTTTTCGTGTTTCATAAATGACACATGTACAAGTTATAGCTCAAATGAAAGCTATTGCCGGTGCTTATACGGTTCTAGCATTTTTTTTTACTGCATTACATTCACATATCAAACAGTTGCCGAATGAATCGCGGTGTTTCCATGGTGCGGAAGTGAAAACAATACATTTATGATCAATAAGCAGCCCCAGATAGCACAGACAACTGTCATCTCTTACCTTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15974
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 |
---|---|---|---|---|---|
ENSDART00000002922 | Nonsense | 1661 | 2452 | 34 | 51 |
ENSDART00000086173 | Nonsense | 1667 | 2458 | 37 | 54 |
Genomic Location (Zv9):
Chromosome 15 (position 6442959)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 6560852 |
GRCz11 | 15 | 6558185 |
KASP Assay ID:
2260-8141.1 (used for ordering genotyping assays)
KASP Sequence:
CCTCTCACCTGATGGAGCTGTGCAGACTGGCTCRTTCTGCAGGAAACACA[C/T]AGGTGAGTCCATGGCTGCAWCCGAAATCACCTACYACTCARTAGGTACTG
Long Flanking Sequence:
TGTATGTATATATATATCTTTAAGTTGTTAGATTTTCAGAGATTCTGAATGTTACTGTATCGGTTTCAGGACAGAGTAAATTTTCGTTTGTTAGCATAGCATCTGCGTGTACAGTAGATGTCATAACTACACTAGCTTAATTAAAGGTTGATTAATTAAAGGTAGAATATGAGAAATTGAAATGTAAAACAAAATAACCCAATATTCTGCTTACCCTATGTTTACATTTTTTAGTTGTGAAAAGACCTTTTATTTCTGTTCTTGACAGGCCAGTAACTGACTCCAGCCTCAATGAGGTGTACAGAAAGTGGCAACAGCACTCCGACTTGTTAACCGACAGTGATTTCAGTTTGGTGGAGCCAGTCTTAGCCCTTCGCTCCTCCATACAGGAAGCCCTGATTTCCTCAGAGACTGATCCGGACAGGAAGAACTACCTTATTTCGACATATTCCTCTCACCTGATGGAGCTGTGCAGACTGGCTCGTTCTGCAGGAAACACA[C/T]AGGTGAGTCCATGGCTGCATCCGAAATCACCTACCACTCAATAGGTACTGCATTTGAATTTAAATGTACCACTCGGCTGTTAGAAAAGTACGTTCTGTACAGTATAAATATAAGCAGTATGAATGGAACTCGAACGTACTACATCCACCATTTATGTCATCATCACAAGACCTACCTGCATCAGTCGCACTTTATTCCTATTCATGAATTCTCTCACGGTGCATCATGGGATAGCATAGCGTCCATCGGATGAATACTTAAGAATCTTGCAGAAAGTAGTAGATCAATCGGGTACTTCTCGCTTAAGCTGCGCCCCAAATGGCACACTATGCACTTATGCGCTATGTACTTACACACTTAACAGCAGGGGCGTCGCTAGGGGGGGAAAGTTAGAAAGATTCTAAAGGCCCATTTATTTAGGGGGCCCCCAAAGACTTATGAGAGGGGCCTAGGTCAATCCACCCAACCCCTGGGTGGTATACCCCTTGGTATACAAAGTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42484
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 |
---|---|---|---|---|---|
ENSDART00000002922 | Nonsense | 1729 | 2452 | 36 | 51 |
ENSDART00000086173 | Nonsense | 1735 | 2458 | 39 | 54 |
Genomic Location (Zv9):
Chromosome 15 (position 6438257)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 6556150 |
GRCz11 | 15 | 6553483 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGTCCTGATTTGAGCAGGTGTGTGTGAATCCAGCTGTGGTGCCGGTGTA[T/A]TCTGAGTGTTTGAGATTATGTGGAAGCTGGCTGGCCGAATCCTGTCTGGA
Long Flanking Sequence:
AACTACTCAACCCTGTGTGAAAATATGTTTGCCTCCTAATGGGCCACCCTTAGCAGAAACAACTGAACTCCATTGTTTTCGATAACTTAGAAAAAGTCTGTTACAGTGCTGTGGAGGAATTTTGGCTCACTCATCTTTGCAGAGTTGTAATTCAGCCATATTGTTGTTATAGCTGGCAGAGCGAGCGGTTTTCCACATGAAGCAGCACAATCTGGTAATGAGTGGCAGCGGCAGCAGCTCGTGGGCCTGGCAGCTGGAGGAGGCGCAAGTGTTCTGGGTGAAGAAGGAACATGGACTGGCTCTGGAGCTGCTCAAACAGATGATCCATAAGCTAGATGATCTGGTAAGTTGAAGTTTGGTTAAGAGGGAATCAACAGTCCATTTGACAGGTGTGGATAAAGCGGAATGTGCCACACACTTTGTTCTGTCATATCTCCTGAGCAACACATAATGTCCTGATTTGAGCAGGTGTGTGTGAATCCAGCTGTGGTGCCGGTGTA[T/A]TCTGAGTGTTTGAGATTATGTGGAAGCTGGCTGGCCGAATCCTGTCTGGAGAGCCCTGCTGTCATACTGGAGAATTATCTAGAAAGGGTAAAGTAACAAACAAACAATCAAAACTATCATTTATCATTCTTTTTTGACTCTCTAATGTCCCTGCATTTGTGTTATGAAGTGTACATGCATTAAAACCTACTCTGTATAGAGCGGTGGCGCTCAACCCTGTTCCTGGAGATCGACCTTCCCGCAAAGTTCAGCTCCAACCCTGATCAAACACACATGAACCAATTAATTAGGACCTGAACAGCACTTGATAATTACAGGCAGGTGTGTTTGATATGGGTTGCAACTGAAATCTGCAGGAAGGTCGATCTCCAGGAACAGGGTTGGTCACCCCTGGTATTGACCTTATTCTAAAATGCGGAAGTGCGGCTGTTTTCGCGATTGTCTTAGAACTTCCGTTTCAGTCGCCTATGGGAGAAATGACTAGGAATAATAAACGGCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6364
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 |
---|---|---|---|---|---|
ENSDART00000002922 | Nonsense | 1784 | 2452 | 37 | 51 |
ENSDART00000086173 | Nonsense | 1790 | 2458 | 40 | 54 |
Genomic Location (Zv9):
Chromosome 15 (position 6433600)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 6551493 |
GRCz11 | 15 | 6548826 |
KASP Assay ID:
554-4774.1 (used for ordering genotyping assays)
KASP Sequence:
TGGCGGTTTAAAATCAAAACTACAGAGCCAGAAAACCCAGGCCTACTTTT[C/A]GCTGGCCCGTTTTTCTGACGCACAGTACCAGGGCATCGAAAACTACATGA
Long Flanking Sequence:
AAATGTCCCAGCATTGTGCAACACAACGAATTGAGTATGAAATTTATTGCCAACTATTTTAGTAATCGATTTAATCAATTCGTTGTTGCAGCTCTATTCCATTTAGTCAAAAGATGTATTGACTGTAAAACATGTATTGACTGTACTAAGGTCTGCAGGTAGGGGTCACAGAGTTTTTTTCTGTGTGTACTGTAGCATTGAGACAAATAAAAGTCCTGTAAATAAACTGTAAATAAATGTACACAATTACTTTCTTTACACATACTTTTTTCAATCTGTTTTTTAAACTGTGAATGCAGTTATTTTTTTGTTCGAAAAATCTTTATTGGATCTTATTGGATTTTTTTCCCCTCAAATCCTTTGAAAAATGACATTACAGCCATAACCTCTTCTTTTGCGCTAATGGTGTGTTGTTCTTGGACAGGCTGTGGAGGTCATTGAGGAACACTGTGGCGGTTTAAAATCAAAACTACAGAGCCAGAAAACCCAGGCCTACTTTT[C/A]GCTGGCCCGTTTTTCTGACGCACAGTACCAGGGCATCGAAAACTACATGAAGTCATCCGAGTTTGAGAATAAGCATGCTCTTCTGGAGAAGGCTAAGGAGGAAGTTGATCTTATGCGAGAGAGGAAGGTCAACAACAACAGGTCAGCATCAACCAGTTTGCCCACTTATACCATGGGTCCATTCTTCGTACGTGGATTACTCAGTTAGCTGGATTTGGATATTGACGATTTGACACGATCCAGGATCGTTTTGTTCTTCAAAGCTGATCCGAGAGTTGTTGTCATGGCAACAGATCTGCTAGGTCAAACCTGATCGGGAGCAGGTTCAAGTCATATAAACAGGATTAGATCGGCTTAGTTCAAGCAAAGATAATACAGAAAGTATGTACCGAGTTCTGATATTTTCTTACAGTAGTAGTTATACACACTTGGGAAAATAGTAAATCTTTTTTAACTATATATATAAAAGTTATAGTCATTAATAAAATAAATAAAGTTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22587
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 |
---|---|---|---|---|---|
ENSDART00000002922 | Essential Splice Site | 2256 | 2452 | 46 | 51 |
ENSDART00000086173 | Essential Splice Site | 2262 | 2458 | 49 | 54 |
Genomic Location (Zv9):
Chromosome 15 (position 6410316)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 6528209 |
GRCz11 | 15 | 6525542 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGGAGAGACGGCTAGCTTACACTCGTAGCGTGGCCACCTCTTCTATTGG[T/C]ACACATACACACTATCATAAACCAAGCTGAGCATAAACTACTCTCACTAT
Long Flanking Sequence:
TATGTATGTATGTATATATATATATATATATATATATATATATGTATATATGTATGTATGTATGTATATATATATATATATATATATATATATATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTGTATGTATGTATGTATGTATGTATGTATGTATGTGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTGTGTATGTATATATATATACACACACACAGGAAAATTAAATCTGATTATGCATTGTTTCAATGCATTGATATAGGAGGCTCAAAGGATGGAATTCAATGACAAACTGCAGGCTTTCACAGAGGTGTGCCAAAACTTCCGACCAGTATTCCGATACTTCTGCATGGAACGCTTTTTGGACCCTGCTATCTGGCTGGAGAGACGGCTAGCTTACACTCGTAGCGTGGCCACCTCTTCTATTGG[T/C]ACACATACACACTATCATAAACCAAGCTGAGCATAAACTACTCTCACTATAACATCACTTCACTTTTGTAATTAATTGCTTCTTACAGTGGGTTACATTGTTGGCCTGGGCGATCGACACATTCAGAATATTCTCATTGATGAACAGACCTCAGAACTGGTCCACATTGACCTCGGTATGTATGTATACACAGAAAACCAGTGCTTCAGAAGATCTTTTGTTTTAATGTTCACCTTTGTTCTCTCTCCACACACAGGTGTTGCGTTTGAGCAGGGCAAAATCTTACCCACTCCTGAAACGGTTCCATTCAGATTGTCTCGAGACATTGTGGATGGCATGGGCATCACTGGGGTGGAGGGTGTCTTCAGAAGGTCAGTGTTGAGGACAAGATCATCTCCCTTCTTTTTTTAAAAGAATCATGTATTTCTAGACCGCTTTCAGTGGAAGTTTGTGTTTAGTTTTACACATAAGCAAGTGTTGCCTCATGTGCTCAGTTTCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42483
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 |
---|---|---|---|---|---|
ENSDART00000002922 | Nonsense | 2290 | 2452 | 48 | 51 |
ENSDART00000086173 | Nonsense | 2296 | 2458 | 51 | 54 |
Genomic Location (Zv9):
Chromosome 15 (position 6410045)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 6527938 |
GRCz11 | 15 | 6525271 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTAATGTTCACCTTTGTTCTCTCTCCACACACAGGTGTTGCGTTTGAG[C/T]AGGGCAAAATCTTACCCACTCCTGAAACGGTTCCATTCAGATTGTCTCGA
Long Flanking Sequence:
ATATATACACACACACAGGAAAATTAAATCTGATTATGCATTGTTTCAATGCATTGATATAGGAGGCTCAAAGGATGGAATTCAATGACAAACTGCAGGCTTTCACAGAGGTGTGCCAAAACTTCCGACCAGTATTCCGATACTTCTGCATGGAACGCTTTTTGGACCCTGCTATCTGGCTGGAGAGACGGCTAGCTTACACTCGTAGCGTGGCCACCTCTTCTATTGGTACACATACACACTATCATAAACCAAGCTGAGCATAAACTACTCTCACTATAACATCACTTCACTTTTGTAATTAATTGCTTCTTACAGTGGGTTACATTGTTGGCCTGGGCGATCGACACATTCAGAATATTCTCATTGATGAACAGACCTCAGAACTGGTCCACATTGACCTCGGTATGTATGTATACACAGAAAACCAGTGCTTCAGAAGATCTTTTGTTTTAATGTTCACCTTTGTTCTCTCTCCACACACAGGTGTTGCGTTTGAG[C/T]AGGGCAAAATCTTACCCACTCCTGAAACGGTTCCATTCAGATTGTCTCGAGACATTGTGGATGGCATGGGCATCACTGGGGTGGAGGGTGTCTTCAGAAGGTCAGTGTTGAGGACAAGATCATCTCCCTTCTTTTTTTAAAAGAATCATGTATTTCTAGACCGCTTTCAGTGGAAGTTTGTGTTTAGTTTTACACATAAGCAAGTGTTGCCTCATGTGCTCAGTTTCAAAGTGAACCGAAAGAGTAATTTCTGTATTGAGGATCATCCACATTGCTTGCACTGCACAAGTTAGTGGCAACATCTAGTGGCATTCTATGAGATATGCGGCAGCTTTTTATGGTACTTATTATCCTTATTTATATAATCTTTATTTAATATCTATTTAATGTATTTTCATTATATTGGATGTATTTAATATTATTGTGTCCAAGTTTCAATTTGCATGGACAAATATAAATTATTTATATTAACTTATTTCAAATATATGTCAGGGTTCAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17959
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 |
---|---|---|---|---|---|
ENSDART00000002922 | Essential Splice Site | 2344 | 2452 | 49 | 51 |
ENSDART00000086173 | Essential Splice Site | 2350 | 2458 | 52 | 54 |
Genomic Location (Zv9):
Chromosome 15 (position 6405693)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 6523586 |
GRCz11 | 15 | 6520919 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AATGGAAGTTATGAGGAGTTCTCAGGAAGCCCTTTTGACCATTGTGGAGG[T/C]AAACGGATCATTTCATTAGGTCTYGYAACTACAGGTAGGATKGTTCACAA
Long Flanking Sequence:
GTTATACCTACATATTAATAATCACATATTTATCTATGCTACATGTTTTGATTCAGCTTGTCTATCCAATATTTGTTGCGCAGTGATGCAAATGGGTTTAAGTTAGTTAATATAACTTTTGGGTGACACATTATCATAATCATATCAGCTTCAAATCATGATCTTTATCATTGAAGTGAATTCTGCAGACTCTCTTACTAGAGATCAGTCATGAACCCTAAATCAAACTGGTATTAGAAAAGATTTTTAGTAAACATTGTGATTCTTATCCAAGCAGATCATTTTGTCAACAGCTAGCTTGTTAAACTAGCGTAACGTATAGTAACGCCACTAAAATGGTTTCAATTGAAACATCAAAATGACATGAATTGTGACATTTTTTAAATAAATGTGGGCTTAAATTATCATTAATAATGATTTTGTTTTGTTATCTAGATGTTGTGAGAAAACAATGGAAGTTATGAGGAGTTCTCAGGAAGCCCTTTTGACCATTGTGGAGG[T/C]AAACGGATCATTTCATTAGGTCTCGTAACTACAGGTAGGATGGTTCACAAAATTGTCGGTTCGGTTTGTATCATAGTTCTGTTGTCATGGTTTTTCGATTTGATTCGGTTTACATTGTGAAAAAAAAACACATACAGTTAGGTCCATAAATATTTGGACATCAACACATTTTTGGCTCCGTACACTAACACAGTGGATTTAAAGGTTCAGGACACCCTGGAGAACTTTTTTTTTTTATATTAACAGATTTGTGTGTTTTGAGCATCAGTTAAGACAATGTTAGCACCTGTCAGCTTTAATTGTGGGGAAAACTGGGTAATTTTGAGCTTTTGTCAGCTAATTTCAGCTTCCGGGTTTAAAATGATTTTTAGGGCAGGATCAAAATCGGCGACGTAGCGCAAAACTGCAAGTGCAATGATGACGCGTCAGTTTCTCATTATTATTCATAGTGGAGTTTTCTTATCCTATGAGAAGAGCCGGCTGCTTAATTATTCATGAGA
Associated Phenotype:
Not determined