ZMP
si:ch211-86k6.4
Ensembl ID:
ZFIN ID:
Human Orthologue:
AKNA
Human Description:
AT-hook transcription factor [Source:HGNC Symbol;Acc:24108]
Mouse Orthologue:
Akna
Mouse Description:
AT-hook transcription factor Gene [Source:MGI Symbol;Acc:MGI:2140340]
Alleles
There are 12 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa37255 | Essential Splice Site | Available for shipment | Available now |
sa39322 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa12466 | Essential Splice Site | Available for shipment | Available now |
sa9769 | Essential Splice Site | Available for shipment | Available now |
sa43603 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa11369 | Nonsense | Available for shipment | Available now |
sa43602 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa43601 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa43600 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37255
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 |
---|---|---|---|---|---|
ENSDART00000127705 | Essential Splice Site | 118 | 1452 | 2 | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
Genomic Location (Zv9):
Chromosome 21 (position 12164930)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13866104 |
GRCz11 | 21 | 13962833 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAACCGCTCTCTCAGGCCACTGGAGACCACTACTACTCTCCATCACTGC[G/T]TAAAAGGCTCAGTTTAATTAAACATCCATAACTAATTTTACAAATATAGT
Long Flanking Sequence:
ATTCCATGTGTTATGAATCAACCTGGAAAATGACATGTGTCTTGTCCAAATGAACAGTTTAAAGGATGGTTTTGGTGGCCAAATAGCTGGAGAATTGAAGAAGTTGGGTGGGTCAAATGTCTCCAGATCTCCAATTCAGTCACTTCAATCACCACAAATTGTAAGGGATCAAGAGGAAAGCCTTCACTCTCATCCTAAAACAAACAGTTTTTTTGCTAATATTTGAACAAAAGATCAAACAGTAAAAACGCTTTTTTCCACAAGCCTTCTTTGCTCATATAATGGTGCTTTCAAAACTGTATGCTAAACATGTAATGGTTGTGTGAATCAGAGAGAAGAGGAGGAGGTTGCAGAGGAGCTGTTGTGGGATGTGAAGACCCCTGAGCCTGAGCATGGGCCGCCGCCTGCAGTAGAGGAGATAAGCTGTCATCTGAGCGAACTGCTGGACTCTGAACCGCTCTCTCAGGCCACTGGAGACCACTACTACTCTCCATCACTGC[G/T]TAAAAGGCTCAGTTTAATTAAACATCCATAACTAATTTTACAAATATAGTAATATTTAATAAAAAGTGTTTTTGTGCAAAGGTATTATTCATCAATTGATATGGTAATATTTTTTTAAAAATTCAATTCATCTTTATTTCTATAGTGCTTTTACAATGTAGATTGCGTCAAAGCAGCTTCACATAGAAGATTATAGTCATTTGAAACATTGAAGGTTCATTTTTGAGAATTTAAGTTCAGTTTAGTTCCATTCAGTTCAGTTCAGTTTGGTTTAATATTCACTGCTGTGTGTCCAAACACTGAAGTTTTAGATTTTTATGACCAGTATTTATTTATTTAGAAAGGATAGTGGATAAATCAGAGTATTGCACAATGTATCTGTGTCAGCGCGTTTTGTACGTGTTGATGATCAGGTTTAAAACTAATTTAAAAACTTTAAGTGGACATTCACACTGCTGAGAGTGACATTTGTGCTGTGGGTTTTCCTCACCCAATAACCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39322
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000127705 | Nonsense | 336 | 1452 | 3 | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
Genomic Location (Zv9):
Chromosome 21 (position 12162513)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13863687 |
GRCz11 | 21 | 13960416 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGCCCTGAAAAAATATACCAAGATGCTACGAGTGGCGAAAAATTAGAT[G/T]GAAGGTTACACAGGCCTTACCACAATCTGCAGCCTCCAACAGTCTCTCCC
Long Flanking Sequence:
AGAAAAACACACAAGAAGATGCTCAGAGATTCATGGATCAATCATTTCATGTCACAGAGGAGAGGGCAGCTGTGTTTCAAACTCTGAAAACCCTTGATTTCAGTCAGGAAATGAGTGGGATTTTCAAAGATCATCCAATTTCAGGAGTCCCAGAGTACTCTGATCAAAGTGACTGCGAGGAACTTGATGCCCGATTTCTTCCAGTCTCGCATCATTTCTCTAGAAACACTTCCAATCCCACCAGTTTTCCCCATTTATCCTCTGAGGAACTGATGAATGACTGTGGGATTGAAGCTGAGACGTTACCTGAGCTAGAAATTAGGTCAGATTCATCTCTTGGCACTTACCAGAGTCCTGTCTCTAAAACAAACCACACTTTCAGATCAAACCAGGAAGAGATTAAACACAAGATCTCACCTCAAACTTCACCCAGAAGCCCTGTAATAAAAAACAGCCCTGAAAAAATATACCAAGATGCTACGAGTGGCGAAAAATTAGAT[G/T]GAAGGTTACACAGGCCTTACCACAATCTGCAGCCTCCAACAGTCTCTCCCAGAAAAACAACCTCTGCTTCCTGCAACACTCAGGTTTCCATTCCAGCGCAGGCTATTTCTAAAGCAAGCGTCTCCCCCTCAGAGCGATCGCCTCCTCCTACACCTCACAGAAATTCAGCAATAAAGAATCACAGAAACTGCAAAACCTCTCACATGGATCCAGATGACATCAGGTAAGAGGAAAAACAGTAATAAGCAGAAATTTGATTTATGATGCATTTTGGAACCGTTAAAGTGGTTCATGATTTGTTAATTGACCACTAAATAATATTTATTACAATAATATAAATTATATATTATATTATTAATTTTGTATCAATATACATTTCTTTTGCCAATATTTTTTAGCTTCAAAAATGGTGAAAAAGTAATTTTTTTATAGAAAATAATAAATAAAAAACATTATTTATTTGTTTTGTTTGTTTGTTTAACTTTATTAATCCCAAAAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12466
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 |
---|---|---|---|---|---|
ENSDART00000127705 | Essential Splice Site | 692 | 1452 | None | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 12147568)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13848742 |
GRCz11 | 21 | 13945471 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGATGCTGCAGCAACNNNAAGGCRGACATGCCATCTTTGACCCAGACAGG[T/C]AGCCATTTTTTAAATGTTGGTGTACAGATATTGTAAAAAACAGAAATGTG
Long Flanking Sequence:
ATGTATGTTGTTCATATTGTAGAAAACTCCAGAAAAGCAGCAACTCGGCCTTCTTCTGTAAGCTCTATCAGCTCGAGGAGGTCTGGATCTCTTACTCCAGACCATCTGACAGACACTCTGTCCAAACAGAACCAAAGATTTCAGCTACAGGTGACCATCTTTAAATCAAGCAGCTGGAGATTTGTTATTTTCAAAGCAGTACTTTGAATCCTCACATGTATTGTTTTCTTCTTTTGTGCAGGTGGATGCATTTGAGTCGCTTTTAAAGGGTGGGAAGCTCAAGCCATGTGAGCAGACAAAGGTACTGTATGATGATGTTTGCGAATTGTGTATTTTTTTTAACACATGAAGTCAATTGGCTCAGTGGGAATTCTCTACAGGGTCTCTCCACACTGGCTGAGGGGCAGGAGTCTCTTGAGAGGGCTTATCTAAATGCACGAGTCCAATATCAGATGCTGCAGCAACGACAAGGCAGACATGCCATCTTTGACCCAGACAGG[T/C]AGCCATTTTTTAAATGTTGGTGTACAGATATTGTAAAAAACAGAAATGTGCGCACATCTAGAAAATCTCGAAGGCAGGTGCTCGATCATAAACAAACATTTGTAGCAAAAGATCAAAAAAAAATCGGCACACTGCCACTTTAGCTCTCAAAAAGTCTCTTAAATCACAATATTTGACCAACAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTTTGTGTGTGTGTGTGTGTTTGTGTGTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTAGGCAACAAATTTTTTTTTAGTTCATACGGTTCTAATTTCAGTGTAATTTTAGTGTGTTTGTTTTATAGTACAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9769
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 |
---|---|---|---|---|---|
ENSDART00000127705 | Essential Splice Site | 747 | 1452 | 10 | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
ENSDART00000127705 | Essential Splice Site | 747 | 1452 | 10 | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
ENSDART00000127705 | Essential Splice Site | 747 | 1452 | 10 | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 12145961)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13847135 |
GRCz11 | 21 | 13943864 |
KASP Assay ID:
2261-5376.1 (used for ordering genotyping assays)
KASP Sequence:
CTTCAGATGTSCTTTCTGCATCCATGCTGGAGCCTGAACCAGTGCCTGAG[G/A]TTCCTCAAAATKACTCCTAAACATCACTCACATATGACCTCATGGGTTCA
Long Flanking Sequence:
ATATGCTTAATAAATATGCTGAATATGCTGAGACAATCCCTCTTTTTCCTTTTTTGGATTGGTGTCTTGCAATTATCTTATTCTTTACTACTTTGTTTTTTCTATTTTATTTATTATTATTATTATTATTATTTGCATTATTATTATTTTGGTATTTGCTTGTGTTTAAAAATGAAATATTATAAAAATATATATATGTTTACTATTTCTCTAATAATATTTGCAATATGACTGCCTCTTACTGTATTTTTGATCAAATAAGAACCTTCTTTTTAAAAATCTGTGACTTGTTTGAGTGCTTATATTAATAGCTGTGTGTTTGTGTGTGACACAGGGATCTAGAGGGTCAGATCTTCAGGTCAGGGATGCGATTAGAGGAGCTGAAAGAGTGGCTGGAACAAGCAGAACAGAACCAACCTGTTTCTGAACCTACTTTATCCCCATATCCTCCTTCAGATGTCCTTTCTGCATCCATGCTGGAGCCTGAACCAGTGCCTGAG[G/A]TTCCTCAAAATTACTCCTAAACATCACTCACATATGACCTCATGGGTTCACAGATATTAAAGTGATTTTCACCTTCATTTGTTATCAGATCCCCCTGTCAGCAGTCTGTCCTGAGGCTTGTGTTGGTGTGGAGGTCAGTTCAGTCAGTGGAGAGAGTGATAGTGGTAGAGAGGAAATGGAAATGCTTCCGTTTGTTCTTCATCCCCTCGATAACAAACACCAACGTGTGGAGAAAGATTTCAGTGAACTCATGGACTGGTGAGAAGTCTTTGACTCGCATACAGTAATATTGGCACCCGGGGTAAACATGAGCGAAGTGAAAAAAATATCTTTATCGTTTAGTCTTTTGATATTTTGCTCAAGATACAATACAAAAACAACTTTGGTCTCTTTTTAACAAAATATAAACATAATATTTATTTATATATAAATAAAATATAAAATACATCACAAACAAAAAAAACATTAAAAGACAAAGAACAGGAAGTTGTTCAGCGATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43603
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 |
---|---|---|---|---|---|
ENSDART00000127705 | Nonsense | 805 | 1452 | 12 | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 12144549)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13845723 |
GRCz11 | 21 | 13942452 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGCTTGATATTTCAATATCTCTTTCTCATGGTCTTCTCACCTTCAGCTA[T/A]CAGAGTGTTAAAGAGCTCCCCGGGACACTGGATCAGGCTGTGACTTTAAA
Long Flanking Sequence:
AATAAAATTTTATTTTTAACCCAGTTTCTTCACATTAGTTAAACAAAAACATAGCTGCTAATAAATTATATAATTAATTATATAAGTGGCTATAAGAAAATAACTAAAACACTGAAATTGCCCATTTCCACCAATAAAATTATGACTAAAAAGTTTCCTGTCTTGCGTCCCAACAAACTGTTTTGAAGAGGTTGAAGTGGCTGAACAAAAATCCAAGATTTACAGCAGTAGAACTGCAAAAGTTAGTAGGTTCTTTAAGGTCACAAAGTCTCAAACTACATTCTGGAAGATAAAAAAAAATCTCTGGCAAACTTAAATGTGATAAATTGTTTTGTTAATATCGAAAGAAAAAATATCATAAGTTTAAACAGTAAATATATGTTTTTCTTTTTTGCTCATATTTACCAGTGCCAATATTAGTGGTTGGCTCTTTACTGTATCTCAAATAAACAGCTTGATATTTCAATATCTCTTTCTCATGGTCTTCTCACCTTCAGCTA[T/A]CAGAGTGTTAAAGAGCTCCCCGGGACACTGGATCAGGCTGTGACTTTAAAGAGCCATGACTTGCTGGATTTTGGAAGCTCTGTTCCTCCTGGGAAAAAAAGTGTAACGGACGGACAACCACTCAAGACTGTTAATGAGAGAGAGATGAGAAAACCAGCTCAGCAGTGAGTCCTGAACCTGTTTCACATTATAGCTTCACTGTTGCTCTGCAAAATGGATCATGCTTCTTTGTATTTTTTTTTCTTGTTTTCTAGTACAAGCATGAAAAAATGTAAATGAATATACTCTTATTTGTGAATATATCTGTTTTACAAGAAATTTAAAACAAGACTTTTTAGAAGATCACCCAATAAATAGAATTTGCTGTTAATTTGCTTTATTCCAAGTTGTAAGTTACTTTTTTTTCTTCAGTAGGACTCTTACAAAATTCTAAATGAAACTATGGTTCTTGGCTCTTCATAAATCTGCCATTCTTCTGAGAGTTAAAAAAAAACATGCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11369
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000127705 | Nonsense | 1030 | 1452 | 15 | 23 |
ENSDART00000140413 | Nonsense | 209 | 253 | 4 | 4 |
Genomic Location (Zv9):
Chromosome 21 (position 12137985)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13839159 |
GRCz11 | 21 | 13935888 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AACACCACAAAAAAGCACATTGRTACATCAGGAAAATGCACAGGTCCKTA[T/G]AAGAAAATAGGAGGGGAGGAAAGGTGTTCTTTTTCCAGTCTTTCTTCCTC
Long Flanking Sequence:
TACAATCCTAAAAATAAAGGTTCCAAAAGGCAGTGATGACACTGAAGAATTACTTTGCATTCCCAAAGAGCCATTCAGTGAACAGTTCTTAAAAGAGCTGTTTTTCTATATATACTTCTCAAAAAAATGAAGGAAACACTTAAACAACACAATGTAACTCCGTGTTCCCTTTATTTTTTTTTTTAGCAGTATATTTTATAACATTGTAAAATTCTAAACATTTATTTAAAGAAATATGGATGTTAAATGTTATTCCTGGAACTATCACTTTAAAAAAAAAAAAACATCTCAAATACTCATCTTTTATTTCTGCATTTTTCTTTGTGTGATATCTTCTTTAGTTCCATCAGACTGTCTGACCCTCACACAAAGGACACAGAGAGACCAGAGTCTGCTTCTCCTTCTGGGCAGCCTTTCATTGTCTCTCCTTCTCCATCCCAACCTTCTCCAAACACCACAAAAAAGCACATTGATACATCAGGAAAATGCACAGGTCCTTA[T/G]AAGAAAATAGGAGGGGAGGAAAGGTGTTCTTTTTCCAGTCTTTCTTCCTCCTTATCCCCCCTTCACTGGCCACGTAGCAGCATTCTGCCCTGGACAAGCAGCCTGACCAGTCAATCAGAGCGTGGAGCTGATGAGGGTGGGTGTCACCATAAGAAAGAACTAAAACCTAATCAAATCAAAATAATTTGTATTTAGATTGTTGTCAAATGATTGTATTTGATAGCATTTCATAAGGAGGCTTAATCTGTTGGATTTATTAATGTTTTATAGATCTTTAACAGTGGAACAGAGTTCACAAATGGGTGAAACCTAGTAGTTTGAAAAATAGAGTCAAAAGCCCCTTTAACACATACAGACCTTTCCAGAAAATTACAGAAAATTTTCCGGAAAAGTCTGTATGTTTGAACAGGCCCTTTTTGAAAATACCGTAAAGAGTATGAATGTGCTGATGTGAGACGTCTACTCCAGCCAATCAGAACATTCAAGACATATTCACATCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43602
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 |
---|---|---|---|---|---|
ENSDART00000127705 | Nonsense | 1105 | 1452 | 16 | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 12135946)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13837120 |
GRCz11 | 21 | 13933849 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCAATCAGCAACTCCGCTCTCACAGAAGCCCCTCCCTCCACAGGCCTTA[T/A]CACCACAGTTCTGCTCAGCTAACAAATCACCAGTGAGTTTCCTAAAGGCT
Long Flanking Sequence:
ATTCAATATTAATTTTATTAAAGTTCTTTAAAATTTACTTTTTAAAACTGTAATTTTTGAAAATTCCTCTGAAATTCTTAACATAAATATAATTTTATTTTATGTAAATGTTAAATACAGTAAGGACTTTTATGGCACTACATATGCTGGGGTATGAATTACAAAAGTGATTGCTTTATTTAAAATTAAAGGTGGTTTAAAAAGTCCTTGAATTTATTATTGCTGAAGATGTGGGAACCCTGATTTATGCTTAAAAATATATTTATATTTGATATTTAAAAAAACTATTTTGCTCTATGCCCTATGTCTTTTAGTGAACTTACCATACAATCAATGTATATAATGCTAATATTTGAATATTTTCTCTCCATATCCTTCTTTTATCATCTCTCTTCTGTCCATTTCTTATCAGAAGAAGAAAAAGCACAGAAAGACAAATACCCACAACCGACCAATCAGCAACTCCGCTCTCACAGAAGCCCCTCCCTCCACAGGCCTTA[T/A]CACCACAGTTCTGCTCAGCTAACAAATCACCAGTGAGTTTCCTAAAGGCTGACCCGGCCACTGCAGCACAAACAAGCAGAGATTTACAGCCACTCTTTTGAGCAAATGCTCTACTGTAAAAGGGACTGCTGGGAAAATCTACAGCCATATTAAGTGATCTCCATGAAATAATTTTTCACTTCCCAGCAGCCAGACCTCCATCTGGATAATTAGATTTAATTTTTATTATTTCCTTTTTCTTTGATTCAGCAGGAGTCGATGTCAAAGCTCGCTAGTATGTATTCAGCTGCGCATCAATAAATCAGTATTTATCACTTTTAGCTATTAATTAAACATTAGCCAAATGTGCGTTTTAATGGTTGGAATGCGTTTTAATGGTTGGAATGGTTCACCTACCCACATCCACACACCCACAATGTTTGGCACTGCCTAAAATGGAGTGGTTATTTCTAAAAACCTGTGTTGATCTGAACACTAACAGAGACTCAAAATATCTGCAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43601
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 |
---|---|---|---|---|---|
ENSDART00000127705 | Essential Splice Site | 1325 | 1452 | 21 | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
Genomic Location (Zv9):
Chromosome 21 (position 12129240)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13830414 |
GRCz11 | 21 | 13927143 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGCCCATTGTGTGGTGCATTACAAGCCATTCAAAGAGCCTCTAAGCCAG[G/A]TTTGGTGCTTCATTATCTATATATGAAATGCTTTCATTAAACTTTTCATC
Long Flanking Sequence:
TTCTGCCCCACCATGCTGCCTAATTTCTAAATTCTAATGACTAATTTCTTATTACTGTCTGAGAAGTTATTTAATTTCTTGACTCAATTGTTAAAGCATAGACATTAGAAATTAAGGTCTTAAATTAGTAAAATCAATGACTTAATGTAAATTAATTACTGAAGAGTACCCAACACTGATCATTAATAACTTGTGGTCATTTTAACTGAACATCAGCAGGCAGATCTGACAACAGCGATGAAGCAGAACCAAACGGAGGAGCAGAATCTCTGTGTCCTGATTGCATATCCGATCGTACCAGTGCTTTGACACGTAAGCATTTTCTGTTCATTATATGAAAAAAACAGGTCTGTACAAAAACTATATTTTTATAAGCAAACCTCTTTTATTATTGAAAGGTCTCCTGAGGAGCAGGAGCTCTCCACATCTTGCACAGACTTCCTGTAGCCATTGCCCATTGTGTGGTGCATTACAAGCCATTCAAAGAGCCTCTAAGCCAG[G/A]TTTGGTGCTTCATTATCTATATATGAAATGCTTTCATTAAACTTTTCATCTAATATGGCTTTTAAGAAACAACACTTACTATATGTGTGGTTATTTAGCTCCAGTCTCCAGTCCCAGAGCGAGTCAGCCAATGAGATCCTTACAGAGAGAAAAAGGAGGCGTGAACGTGACAGTGGCTCCTCCCCCTTTATTGCAGAGAGCTGTTCCAGTTGTCCCATATGTGCCTGTATATCCTTCAACTCTGTAAGTACTATTTAAAAAAAAAAATGTTTATTAGATTGCTTTGGCAATTGATCTGTCTAGAGAAATGAAAGGAATTATCACTTTGGAACAATTTCAACATTCTGTTCTGAGTTAAATGCAATTGGTCTGAGTATTTATGTGGTAATTCGAAAAATGCAAAATGAAGAAACATTCATTCATTCTCTTTCGGCTTAGTGCCTGATTTATCAGAAGTCGCCACAGTGGAATGAACTGGCAACTACTCTAGCAAGTAGAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43600
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 |
---|---|---|---|---|---|
ENSDART00000127705 | Nonsense | 1408 | 1452 | 23 | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
Genomic Location (Zv9):
Chromosome 21 (position 12126258)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13827432 |
GRCz11 | 21 | 13924161 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTCATCAAATCCCGTCAGGCCTGAGAGGTCAGGGGTCAGAGGTCACCGC[A/T]GACGCTCTTCCTCCATGGAGTATCATCAGGATTCTATGAGCAGCGCTTTG
Long Flanking Sequence:
GTTAGTTGGCATTTCTGTATGGAGTTTGCATTTTCTCCCAATGTTGGTGTGGGTTTCCTCCGGGTGCCCCGGTTTCCCCCAGTTCAAAAACATGCGCTATAGATTAATTGAATAAACTAAATTGGCCGTAGTGTATGTCTGTGAATAAGTTTGAATGGATGTTTCCCAGTACTGGGTTGCAGCTGGAAGGGCATCCGCTGTGTAAAACATAAGCTGGATAAGTTGGCGGTTCATTTAGAGACCCCTAAGGGACTAATGCGAAGCAAAATGAATGAATGAATGAATATATGGATTTTTCACACTGTCAAAATGCAAATCTCACTTTCTATTGTGTCCTTGCTGAAAAAAAATCATTTAAATACTGACAACAGATTACTCATTCTTTGTCATTTTCCTGTAGATATTTCTCCAGCCCAATGACTCCACCGGCATACCCACAACCCCTCAACATCTCATCAAATCCCGTCAGGCCTGAGAGGTCAGGGGTCAGAGGTCACCGC[A/T]GACGCTCTTCCTCCATGGAGTATCATCAGGATTCTATGAGCAGCGCTTTGACCCGTGCCATCACTGCAGCGAGACACATGAGAGAAGCCTCACAGCGCATGGCCAGCAGCCTCCACACTGCATCCTGCAGCTACTGACACACACACACACACACACACACACACACACACACACACACACACACACACACCTACATCTATTCATTTAGATCTTCTGCTTAAATGTGTTGCATATGGAAATGAGGGATGTTTGTACTTATTAGTTTACATAAACCAAATCTCGTAGTGACTGATGACATGTAAATGAAAGAAAATGTGAATTGTCTCAGGTAAACAGCTGCTTTTAGAGGTAGATGCAGTAGCTGCGTTATGGTAGCATTTACAGGTTTGAAAATACAGTGACCAATTTACAGGTATGGAAATACAGTGACCTCAAAAAATATTTGAAACACTTAAGACTTGCTTAAATACAGTTGAAGTCAGAAATATTAGCCCCCGGTT
Associated Phenotype:
Not determined