ZMP
LOC568926
Ensembl ID:
Human Orthologue:
ANK2
Human Description:
ankyrin 2, neuronal [Source:HGNC Symbol;Acc:493]
Mouse Orthologue:
Ank2
Mouse Description:
ankyrin 2, brain Gene [Source:MGI Symbol;Acc:MGI:88025]
Alleles
There are 11 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31198 | Nonsense | Available for shipment | Available now |
| sa32620 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa39568 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa39569 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa10761 | Essential Splice Site | Available for shipment | Available now |
| sa10645 | Essential Splice Site | Available for shipment | Available now |
| sa19448 | Essential Splice Site | Available for shipment | Available now |
| sa25542 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa39570 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa32621 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa19449 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa31198
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 |
|---|---|---|---|---|---|
| ENSDART00000021693 | Nonsense | 160 | 3760 | 5 | 48 |
Genomic Location (Zv9):
Chromosome 1 (position 12971618)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 13400360 |
| GRCz11 | 1 | 14086873 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTTCACTCCGCTTTATATGGCTGCTCAAGAGAATCACCTGGATGTTGTG[C/T]GATATCTACTGGAGAACGGCGGAAACCAGAGCATGGCCACAGAGGTTTTT
Long Flanking Sequence:
GGGATGTATTAGGCGCTCTCCAGAAATCTATATAGAGGTTCGTTTTCAGAATGAGCCTGGGTTGCTTTTTTGAGTGGATCTTGTGCAATCTTGCTTCCCAAGTAACTCACTCTGTACAGAATACAAATAAATGCAGTAATTAAATGTGAATACGTATCTTTCTGTCCTCTTCAGAAAGGAAACACTGCACTGCACATCGCTTGTCTTGCTGGGCAGAAAGAAGTTGCAAAGTTGTTGGTGAAAAAAACAGCAGATGTGAACTCTCAATCTCAGGTGAGAGAAGCCTGAAAAAAGTTATTATTATAAGAAATAATCGCATAATACACAAAATAATTATTTTCGTTTTTGAATGATAAAACTAAAGTATTTATAATGTAATAATAAATAACATCATATTATAATTGATTATTATATTAATCTTCATGGTAACCTGCATTTTACTCCAGAATGGCTTCACTCCGCTTTATATGGCTGCTCAAGAGAATCACCTGGATGTTGTG[C/T]GATATCTACTGGAGAACGGCGGAAACCAGAGCATGGCCACAGAGGTTTTTGATTGACAATTCCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTTTCTCTTTTTGCGTACTTGTTTATGTGGTTCACACAGACAAAATTGCATAATGACATGGGTTTGACCTAGTTGTACTTTATTAAGTTGGTTTACGAAGATATGCCTTGTGTCCTTGTAATTCAATATGCTTAAAAACCATATTATTCACATTCAATTTACCACAGTTATCCTGTGAGGGTTGGGTTTAGGCATAGGGGTATGCTCTATAAATAAAGTTATAAAAAGCTGTTTTTACAGTAGAGATACTATAGAATCCATTATGTCTATGGAGAGTCCTCATTAACCATATAAACAACATTTGTGTGTGTGTATGTGTGAGTGCTTGCATGCTTTTGTGACATAACAGAAATTTGTATCACAAATTTAATGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32620
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 |
|---|---|---|---|---|---|
| ENSDART00000021693 | Essential Splice Site | 174 | 3760 | 5 | 48 |
Genomic Location (Zv9):
Chromosome 1 (position 12971663)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz11 | 1 | 14086918 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGTGCGATATCTACTGGAGAACGGCGGAAACCAGAGCATGGCCACAGAG[G/A]TTTTTGATTGACAATTCCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Long Flanking Sequence:
TCAGAATGAGCCTGGGTTGCTTTTTTGAGTGGATCTTGTGCAATCTTGCTTCCCAAGTAACTCACTCTGTACAGAATACAAATAAATGCAGTAATTAAATGTGAATACGTATCTTTCTGTCCTCTTCAGAAAGGAAACACTGCACTGCACATCGCTTGTCTTGCTGGGCAGAAAGAAGTTGCAAAGTTGTTGGTGAAAAAAACAGCAGATGTGAACTCTCAATCTCAGGTGAGAGAAGCCTGAAAAAAGTTATTATTATAAGAAATAATCGCATAATACACAAAATAATTATTTTCGTTTTTGAATGATAAAACTAAAGTATTTATAATGTAATAATAAATAACATCATATTATAATTGATTATTATATTAATCTTCATGGTAACCTGCATTTTACTCCAGAATGGCTTCACTCCGCTTTATATGGCTGCTCAAGAGAATCACCTGGATGTTGTGCGATATCTACTGGAGAACGGCGGAAACCAGAGCATGGCCACAGAG[G/A]TTTTTGATTGACAATTCCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTTTCTCTTTTTGCGTACTTGTTTATGTGGTTCACACAGACAAAATTGCATAATGACATGGGTTTGACCTAGTTGTACTTTATTAAGTTGGTTTACGAAGATATGCCTTGTGTCCTTGTAATTCAATATGCTTAAAAACCATATTATTCACATTCAATTTACCACAGTTATCCTGTGAGGGTTGGGTTTAGGCATAGGGGTATGCTCTATAAATAAAGTTATAAAAAGCTGTTTTTACAGTAGAGATACTATAGAATCCATTATGTCTATGGAGAGTCCTCATTAACCATATAAACAACATTTGTGTGTGTGTATGTGTGAGTGCTTGCATGCTTTTGTGACATAACAGAAATTTGTATCACAAATTTAATGCAAATTTGTATAATGATGTGGGTATGACAATGCTATATCTTTTGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39568
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 |
|---|---|---|---|---|---|
| ENSDART00000021693 | Essential Splice Site | 277 | 3760 | 8 | 48 |
Genomic Location (Zv9):
Chromosome 1 (position 12978877)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 13407619 |
| GRCz11 | 1 | 14094132 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGCCACGCTGCTGCTCAACAGAGGGGCTGCTGTAGACTTCACAGCCAGG[G/T]TATGAGCTTATACTGTTATATCCTTGCAAAAACATTGGGTTTAAATATCT
Long Flanking Sequence:
CATTTGTTTGTTCAGATATTTTTATTCATCATCCTTTTTTCTGTCATTGTCACTGAGAAACTTCTCATCTCTTTAACAAAGGCTCACTGGAATGTGCTCATATATTATTATCATACAAATATAATCTTTCGGTTTTTCCTTCCATTAACGTTTTTTTTCTCCCGTTCATTCACTCTAGTGCATGCTGATCCATTGGTAGCAGATGAGAATCCAGACATTTCTTTAACTTTTCCATTCTTTCTTTATTTTTTGCACAAATGTGATGGTTCATTGGAATGCTGCATGGTAGATCATTAAGGATGGATGTTTAAAATGAGATAGAAGATCTTTATATTTACTCTGTTTCTCTGTCTCTTGTTCTGTTCCTTGTTTTATCCTAAAACTATTCCACCGTGTATCAGAGTGGCTTCACTCCTCTACATATTGCTGCTCATTATGGGAATGTAAATGTGGCCACGCTGCTGCTCAACAGAGGGGCTGCTGTAGACTTCACAGCCAGG[G/T]TATGAGCTTATACTGTTATATCCTTGCAAAAACATTGGGTTTAAATATCTGGTAATTAACAGTTTACGTATTTTGTGATTCACACCGGTTTTCTGTTTATTTTACAGTTGTGAATTGCATTATGGGATGTTGATCTCTGCTCTGTCAACTTTCGATGTAGAAAATTCAACTCTACCATTTAACAAATTGACATTTTAGTAATTTGAAATAATATAATGGATAAGAAACAATATATCGAAAAATAAGTCTGTAAAATAATTACGGTTAATATACAAAAATATATCTGGGATGATTTTGTCATATACATATAATATATACATATATACATATAAATGTTAATAAAAGTCACTTTTTCAAATTTGTCGAGGTTAAAAGTTGTTGGAAGAAAGTAGGCTTAGGCGGTATACAAATTATGATACCATCAAACCTCCTCCCTATTTTACCTCAGTATTATCGTGCATAATGAAAAAAAATATGATCTAAGGCTCAGACAGCATCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39569
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000021693 | Nonsense | 392 | 3760 | 11 | 48 |
Genomic Location (Zv9):
Chromosome 1 (position 12984789)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 13413531 |
| GRCz11 | 1 | 14100044 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATTGGACTACCTGACCGCCCTTCATGTGGCCGCACACTGTGGTCACTAC[A/T]GAGTCACCAAATTACTGCTGGACAAGAAAGCAAATCCTAATGCCAGAGCG
Long Flanking Sequence:
GGCGTCAGATGCAGCAGATTGATTTTATAACATCAGGTTAAACTTTCTGGCACATTTACAGCTCTGATTTACATTAAAAAAAGATTAAACTAAGAATAAACTTGGGTCTATTGGTGTGTGTGCGCAATTGCATGCAAGGTTTCTGTATATATAACCACCTCAGAGGATATTGGGGGTCGCGAGTCACTAGCATTGTTATTTTGGGGGTCGCAAGCTAAAAAGTTTGGGAACCCCTGATGTGAATCATATAGAACCATGGCGTCATCTTTATCTGATCAAATCACTGTAATCAATTTTTTGATCTAAGGTTGAGCTGTATGTTTTTTTTCTCTCTGTTTTCCAACACACACACACAGAACGGTCTGTCCCCGCTGCACATGTCTGCTCAGGGTGATCACGTCGAGTGTGTGAAACACCTGCTGCAACACAAGGCACCGGTTGATGATGTCACATTGGACTACCTGACCGCCCTTCATGTGGCCGCACACTGTGGTCACTAC[A/T]GAGTCACCAAATTACTGCTGGACAAGAAAGCAAATCCTAATGCCAGAGCGCTGGTAATTTAGTGAAAGACCGTATTACTGCATATTCATCAGTGTTAATCAATGCTACAAATGTATGTGTTGTCTCTGTCAGAACGGCTTCACTCCCCTACATATTGCCTGCAAGAAGAACAGAGTGAAAGTCATGGAGCTGCTGGTTAAATACGGCGCCTCAATCCAGGCCATCACCGAGGTAGGAGTCTGCGTCTCAATTCACACACTTAATGTAATCTTTAAGATAATGAGGACAATAAAATTTGATTTGTCATTGTCATAAAGGAGAATAATAGGGCAGAATAATATGAATCTGTTATGTTTATTTTTACATTTTTATTACATTGCTGTTCAAGCATGTAAAGAAATCTGCAATGCTACTAAGCGTACTAAAAAGCAATTCTCTGTATTGGTAATCACTGTTCCTGAATTTCTTTAAATGCCATCTATACGCTTATTTCACACGGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10761
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 > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000021693 | Essential Splice Site | 772 | 3760 | 20 | 48 |
| ENSDART00000021693 | Essential Splice Site | 772 | 3760 | 20 | 48 |
Genomic Location (Zv9):
Chromosome 1 (position 12995251)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 13423993 |
| GRCz11 | 1 | 14110506 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGTTAATTTCCTTTTGCAAAATGKCGCTAATGTTAATGGAAAAACAAAG[G/A]TAAGARTGTACTTCTTTCATCTTTGCCATAATGACAGAACATAATATTTA
Long Flanking Sequence:
TTGGTCACCTGATGTCACGAACTAAATCTAACCTAATATTAATGTCTTATGACATTGTCTGCCTTCTGGGAAGAACAGGGAGCGGCTTCATTTCTGTCTAACGGGAATTGATTGGATCATCGTGAAAGCCTTCTACAGAGCCATAATTCTAATATACATTTTTTGTTTTGTTTTTCTTCAGAGTGGCCTTACACCTCTTCATCTCACTGCTCAAGAGGACAGAGTGCAAGCGGCTGAAATACTGGCCAAACACGACGCAAACATTGACCAGCAGACCAAAGTAAGCTTGTCCTGGAGTTTAATATTAACATGCTCGTATTGTATTATTATTTTTTCATAAAAATAACGAAATTGCATGATTAAGTGTCCATTTCTCATGTTAATTTGGTTGTTTCTTCTAGTTGGGCTACACTCCTCTTATCGTGGCTTGCCACTATGGAAATGTCAAAATGGTTAATTTCCTTTTGCAAAATGGCGCTAATGTTAATGGAAAAACAAAG[G/A]TAAGAATGTACTTCTTTCATCTTTGCCATAATGACAGAACATAATATTTAAATAGATATTTTAATATACTAGTATTCATTTAAAAGTGCCATTTAAATGTAACGGAGGCCAGCTAGTGTGTGCTGTGCAGGTAAACCTCACTCCTTTGACCTCTAAAGGTGCCCTAGCGACAGACGCTAGGGGCCATGGTCTTTAGCCTCCTTGGTAGAGCAACCGACTCCCATGCGGAAGATCGCTGGTTCAATACCAGCTCGGAGCAGGTTGGGTGGCGTAGGACCGGTGGGGTTACATTGGTGCCGTGACCCGGATGGGAGTGAGGTTTAGGGGGGTGAGTGTAACGGAGGCCAGCTAGTGTGTGCTGTGCAGGTACACTCACTCCTCTGACCTCTAAAGGTGCCCTAACGACAGACGCTAGGGGCTATGGACTTTAGCCTCCTTGGTAGAGCAACCATCTCCCATGCGGAAGGTCGCCGGTTCGATACCAGCTCGGAGCGGGTTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10645
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 > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000021693 | Essential Splice Site | 772 | 3760 | 20 | 48 |
| ENSDART00000021693 | Essential Splice Site | 772 | 3760 | 20 | 48 |
Genomic Location (Zv9):
Chromosome 1 (position 12995251)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 13423993 |
| GRCz11 | 1 | 14110506 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGTTAATTTCCTTTTGCAAAATGKCGCTAATGTTAATGGAAAAACAAAG[G/A]TAAGARTGTACTTCTTTCATCTTTGCCATAATGACAGAACATAATATTTA
Long Flanking Sequence:
TTGGTCACCTGATGTCACGAACTAAATCTAACCTAATATTAATGTCTTATGACATTGTCTGCCTTCTGGGAAGAACAGGGAGCGGCTTCATTTCTGTCTAACGGGAATTGATTGGATCATCGTGAAAGCCTTCTACAGAGCCATAATTCTAATATACATTTTTTGTTTTGTTTTTCTTCAGAGTGGCCTTACACCTCTTCATCTCACTGCTCAAGAGGACAGAGTGCAAGCGGCTGAAATACTGGCCAAACACGACGCAAACATTGACCAGCAGACCAAAGTAAGCTTGTCCTGGAGTTTAATATTAACATGCTCGTATTGTATTATTATTTTTTCATAAAAATAACGAAATTGCATGATTAAGTGTCCATTTCTCATGTTAATTTGGTTGTTTCTTCTAGTTGGGCTACACTCCTCTTATCGTGGCTTGCCACTATGGAAATGTCAAAATGGTTAATTTCCTTTTGCAAAATGGCGCTAATGTTAATGGAAAAACAAAG[G/A]TAAGAATGTACTTCTTTCATCTTTGCCATAATGACAGAACATAATATTTAAATAGATATTTTAATATACTAGTATTCATTTAAAAGTGCCATTTAAATGTAACGGAGGCCAGCTAGTGTGTGCTGTGCAGGTAAACCTCACTCCTTTGACCTCTAAAGGTGCCCTAGCGACAGACGCTAGGGGCCATGGTCTTTAGCCTCCTTGGTAGAGCAACCGACTCCCATGCGGAAGATCGCTGGTTCAATACCAGCTCGGAGCAGGTTGGGTGGCGTAGGACCGGTGGGGTTACATTGGTGCCGTGACCCGGATGGGAGTGAGGTTTAGGGGGGTGAGTGTAACGGAGGCCAGCTAGTGTGTGCTGTGCAGGTACACTCACTCCTCTGACCTCTAAAGGTGCCCTAACGACAGACGCTAGGGGCTATGGACTTTAGCCTCCTTGGTAGAGCAACCATCTCCCATGCGGAAGGTCGCCGGTTCGATACCAGCTCGGAGCGGGTTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19448
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 > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000021693 | Essential Splice Site | 773 | 3760 | 21 | 48 |
Genomic Location (Zv9):
Chromosome 1 (position 12996093)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 13424835 |
| GRCz11 | 1 | 14111348 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCTGAGATAATTACTGTATTGATGAATCTTTTTTTTTCTTTGTACATTC[A/G]GAATGGTTACACACCACTTCATCAAGCTGCTCAACAGGGAAACACACACA
Long Flanking Sequence:
AGGCCAGCTAGTGTGTGCTGTGCAGGTACACTCACTCCTCTGACCTCTAAAGGTGCCCTAACGACAGACGCTAGGGGCTATGGACTTTAGCCTCCTTGGTAGAGCAACCATCTCCCATGCGGAAGGTCGCCGGTTCGATACCAGCTCGGAGCGGGTTGAGTGGCGTAGGACCGGCGGGGTTACATAAAGGTTAACTATGCAAGTTAGGGTTAGTAGGCAAGTCATTGATGATGATGATGCTTTGTTCTGTAGACAATGGGAATGGGTTGTTTAAGGGGGCTAACAATATTGACCTTAAAATGGTTTTAAAATATAACAACTTATAAAAGCTTTTTTATAATAAAAGCTTTTCTTCTAGCCACAATAGAACAATAAGACTTTCTCCAGAGGAACTATTATAGGAAATACTGTATTATTTTTTTTTGCATTGCACTGCCTTCTGATTGCTATCTCTGAGATAATTACTGTATTGATGAATCTTTTTTTTTCTTTGTACATTC[A/G]GAATGGTTACACACCACTTCATCAAGCTGCTCAACAGGGAAACACACACATTGTCAATGTCCTCCTGCAGCACGGAGCTAAGCCTAATGCTGTTACCATGGTATGAGCAACACTTGCACTCCCTGAAATCATCTTAATTCTGTATGTGACTCCTTTAACCTCAACATTCTTTCTCCCTCAGAACGGAAACACTGCACTCTCTATTGCGAAGCGTCTGGGGTACATCTCAGTGGTGGACACTCTGAAAGTTGTTACTGAGGAAATCATCACAACCACAACTGTATGCATCCATGCATTTATGTAATAATTTGCTTCTGATATACGCACAGACCACACAGTGAATACGCTGAATGCCTTGTTCAATTGAACTATTGCAGACGGTGACAGAGAAACACAAACTGAACGTTCCAGAGACAATGACGGAAGTTCTGGATGTTTCTGATGAGGAGGGTAAGATAATGTGTTTTATTCTGTTTTATTAAACAAAATCAGGATTTGCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25542
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 |
|---|---|---|---|---|---|
| ENSDART00000021693 | Essential Splice Site | 805 | 3760 | 21 | 48 |
Genomic Location (Zv9):
Chromosome 1 (position 12996194)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 13424936 |
| GRCz11 | 1 | 14111449 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGTCAATGTCCTCCTGCAGCACGGAGCTAAGCCTAATGCTGTTACCATG[G/T]TATGAGCAACACTTGCACTCCCTGAAATCATCTTAATTCTGTATGTGACT
Long Flanking Sequence:
GAGCAACCATCTCCCATGCGGAAGGTCGCCGGTTCGATACCAGCTCGGAGCGGGTTGAGTGGCGTAGGACCGGCGGGGTTACATAAAGGTTAACTATGCAAGTTAGGGTTAGTAGGCAAGTCATTGATGATGATGATGCTTTGTTCTGTAGACAATGGGAATGGGTTGTTTAAGGGGGCTAACAATATTGACCTTAAAATGGTTTTAAAATATAACAACTTATAAAAGCTTTTTTATAATAAAAGCTTTTCTTCTAGCCACAATAGAACAATAAGACTTTCTCCAGAGGAACTATTATAGGAAATACTGTATTATTTTTTTTTGCATTGCACTGCCTTCTGATTGCTATCTCTGAGATAATTACTGTATTGATGAATCTTTTTTTTTCTTTGTACATTCAGAATGGTTACACACCACTTCATCAAGCTGCTCAACAGGGAAACACACACATTGTCAATGTCCTCCTGCAGCACGGAGCTAAGCCTAATGCTGTTACCATG[G/T]TATGAGCAACACTTGCACTCCCTGAAATCATCTTAATTCTGTATGTGACTCCTTTAACCTCAACATTCTTTCTCCCTCAGAACGGAAACACTGCACTCTCTATTGCGAAGCGTCTGGGGTACATCTCAGTGGTGGACACTCTGAAAGTTGTTACTGAGGAAATCATCACAACCACAACTGTATGCATCCATGCATTTATGTAATAATTTGCTTCTGATATACGCACAGACCACACAGTGAATACGCTGAATGCCTTGTTCAATTGAACTATTGCAGACGGTGACAGAGAAACACAAACTGAACGTTCCAGAGACAATGACGGAAGTTCTGGATGTTTCTGATGAGGAGGGTAAGATAATGTGTTTTATTCTGTTTTATTAAACAAAATCAGGATTTGCTATATCTGTGTAAAAGCTGCTGTGCCTTTGTAGCTCAACATCAAACCGAGGAGGAGCTTTTTACTGAAGTCTATATGGAGATTGAAGGTATACGGGGTATAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39570
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 |
|---|---|---|---|---|---|
| ENSDART00000021693 | Essential Splice Site | 978 | 3760 | 27 | 48 |
Genomic Location (Zv9):
Chromosome 1 (position 13003939)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 13432681 |
| GRCz11 | 1 | 14119194 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTCCGTCTTTTAGCCAGTCTACCCCATGCCTTGACCATGACAACAGCAG[G/A]TGATCCTCCACTACTCTTGCTTGAGTCCCATTGCTTTCCATATTCACAAT
Long Flanking Sequence:
TAATTTAGGCGATTACATTTACAAAAATATTTGGTTTATTCTGATTGTGTTGTCAGGTGTCTGCATTTCGAGAGCATGAGAAGGACTCGTATCGACTGAGCTGGGGTGCTGAACATCTGGATAATGTGGTGCTAACCAGCACTCTTCTGCAGTCAGGGTTAGTAAGTTGTATACACACTCAGACAGAATTGAAACACAAACACACTTGCCTCCCTGTCACATACAGCAAGAACGTATAAAGTTGTGTATCTTTGGTCAAAACTGGTAAACCTTTTTTTCTTCTCATTATTTTAAACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCCTCTCTCTCTCCTTGATTACACTCACGTCATCTCCCTGAATCACTCGGTGTCTCTCTCTGCTCTTCGTGATTGTGTGTTTTGTCCGTCTTTTAGCCAGTCTACCCCATGCCTTGACCATGACAACAGCAG[G/A]TGATCCTCCACTACTCTTGCTTGAGTCCCATTGCTTTCCATATTCACAATACATTATTGCATGTTAAAATGAGCATTTTTGTGCTTATTCAAATTTTAATATGCATGTTTTGATAAACTCAGTGAGTCATGTCTCAGTATTCATAGAAAACCTGTGAATAATATGCAATATTATTCAGTACTTCTCACATGGGTGGTATGAAACTGGACACACTGCGTTTCTCAACTCCTACGCAATTTATTTTCCCAGTACCTCTCTAGCATGTTCATTCTATATTATCTAATCTCCCCAGATAACTGATCTTTTTCAAAGTCTTTCTTTATGAACTTCATTTTTTTATGGACACTATATAACTAAACATTAAAGCAACACTTAACAATAACATTATTATACAACGCATCTGGAAAGTTTTTATACTGTAGCGTTTTTTTTTTTTCTTCATGTCACAGCTTCATTCCAAAATGGATTAAATTCGTTTATTTCCTTAAAATTCTACACAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32621
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 |
|---|---|---|---|---|---|
| ENSDART00000021693 | Nonsense | 3368 | 3760 | 39 | 48 |
Genomic Location (Zv9):
Chromosome 1 (position 13027540)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 13456282 |
| GRCz11 | 1 | 14142795 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGACAAGTCCTCTACTGACTTAGGGATAGATAGTAATTTGAAAGCAATT[C/T]GACCTCCGTCTGTAGGCGATGATGTCTTTGAGGCAAGACCCAATTGGGAG
Long Flanking Sequence:
TTGTTGAAATGCCTATATCCACCCAAGTATCTACAATTTTTTCTAGTGCCTCAGTTCACACTGCACGTGAAGATCAGTTTCAGACATCATCTTTAATGTCCACTTCATTCAAGGATATTGCAGCTGAAATTGAAGACACAACATCTAAACCAAAAATAGCTGTGAAAGCAGCCAGCTTTGACCAAATTTTAGAACCAGGAGACTCTATTGAGCAGAACCTAAGGCCTAAATCTGAAGCAGATACTGGTGACTCAGAATGGTCCATGTCTGTTGCAGAAGATCCGATTAACATAGACAGAATCTACACCATACCAAAGACTTCTTTCTCCCAAATGCCTGTTTCACCAACAGAGACTCCTCCACCTTATACTGTATCCAGTCAACCTAAACTTCCTGCTGAATTCATTCAGAATCTGGGCTCAAGTAACACCAAATGTGATGAAACTAAAAGAGACAAGTCCTCTACTGACTTAGGGATAGATAGTAATTTGAAAGCAATT[C/T]GACCTCCGTCTGTAGGCGATGATGTCTTTGAGGCAAGACCCAATTGGGAGGATTGTGTGGAGACACAGATGCAGAGAATCTCAGACAGCACTACCCCAGAACAAAGTAAAGGTATCTCTACTTGGCACTTGCCCCTCCCCCCTATTAATTATTCCAAAATTTATCTTAATTCCATGAAAGTCTCTTTCTTTAGATTTTTTTTTTGTATTGTATTTGTTTTGTGTTGTATGGTGTTCTGTTGTTTATGTATTGTGGTGTTTTGTGTTGTACTGTCTCATCTCAGTGTTGTCTTGTGTGTGTCATGTTTTGTGACTTTTTTATGTCATGTTTTATTCATTTCCATATCAGTGTAAACAACATGAATACTGAAATCTCAAGATTGACTGTCTCTACATTTGTTTACTAATAATAGTTTCTGTGCAATGCATGCCCACTACTGCATGTTTCGTCTCAATAATAATATTACTAAAAAACACCTCAAGGGCACATTTTCAGTGTAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19449
Status:
Available for shipment
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For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000021693 | Nonsense | 3711 | 3760 | 47 | 48 |
Genomic Location (Zv9):
Chromosome 1 (position 13037176)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 13465918 |
| GRCz11 | 1 | 14152431 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACTTCAGGTGACTTTCCATGAGAAAGACAGCATTTCGGCTTCAAGGGGG[G/T]AGTCTGCCGCTGGTCAAGAAGTCAGACAGATGGTCCAGACAACAGTGGTA
Long Flanking Sequence:
GTCTACATTTTAAATGTCAACACAGTGTAAAGAACCAGCAACTATTCCAGCATATGTTTTACACAGCGGATGCCCTTCCAGCCGTAGCCCAGTACTAGAAAACAACCTTACACACTCACTCACACACTCATACACTATGACCAATTTAGTTAATAGAATTCACCCATGGCACATATCTTTGGACTGTGGGGGAAAGCAGAGCAAACACACCGAAAAAAAACACACAAACACAGAAAGAACATGCCAACTGGCCCAGCTGGGACTCGAAACGGCAACCTTCTTGCTGTGTGAGGTGGCAGTGCTAATCACTGAGCCACCATGCCACCCTAACACAACGATATGTACAGTAATCAAAATAAGCCAATTTGTTTCAATGTCATGTACTTACTTAAGCAATGAAAATGTTGGCATTTCAACAGTTTTGATCAATTAAAGATGTGTATCTTGTTTAACTTCAGGTGACTTTCCATGAGAAAGACAGCATTTCGGCTTCAAGGGGG[G/T]AGTCTGCCGCTGGTCAAGAAGTCAGACAGATGGTCCAGACAACAGTGGTACATGGAGAACAGTTGGAAAAGCATGAGGGGAATCCATTCCTTGCCAGAGACTTGCCCTCTGCTCGGGATGACTTCACCCAGGTGAGCTGCCAAACACAGCAGCTGTTACTTACGGCTTTACTACAAAGTTGTTGGAAGATTTGTAGTTATTTAGGGAGAATCCGGCTGCAATTATGTTTTTTTAAATAAACCAAAAAGTTGGCTTATGTTATGTTATGTAATCAGCAAACTGTGATAGGGATAACATTTTTTAGATGTTATGATGTTCCATATGTGAGATTTGATCAAACTATTAAAAATAAAATATTACAGCATTCTGTCTTAGAAATAGACAGTGATTTTCCTTTTTTTTTGTTTTAATATTAGATACTATTACAAAGTAGGAATATGAATTACTATAAATTAAGTATAATATTAATATATCATTTATATGATTTAAGTAGTACTATG
Associated Phenotype:
Not determined