ZMP
NP_001108566.1
Ensembl ID:
Description:
notch homolog 2 [Source:RefSeq peptide;Acc:NP_001108566]
Human Orthologues:
NOTCH2, NOTCH2NL, RP11-458D21.5
Human Descriptions:
notch 2 N-terminal like [Source:HGNC Symbol;Acc:31862]
notch 2 [Source:HGNC Symbol;Acc:7882]
notch 2 [Source:HGNC Symbol;Acc:7882]
Mouse Orthologue:
Notch2
Mouse Description:
Notch gene homolog 2 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:97364]
Alleles
There are 10 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa31643 | Nonsense | Available for shipment | Available now |
sa34370 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa7129 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa25391 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa41176 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa34371 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa41177 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa38684 | Splice Site, Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa31643
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 |
---|---|---|---|---|---|
ENSDART00000032967 | Nonsense | 516 | 2475 | 9 | 35 |
ENSDART00000123474 | None | None | 828 | None | 11 |
ENSDART00000125246 | None | None | 826 | None | 10 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 20131434)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 19561331 |
GRCz11 | 8 | 19593416 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCTCAGCTCACCTTGTCTTAATAACGGTAGATGTCTAGACCAGGTCAGC[C/T]GATTCGTCTGCGAGTGTCCTCAGGGTCAGTATAATGATTGGTGCAGTCAA
Long Flanking Sequence:
ATAGTTTGCTTTTCTCTTCTTTGTTTTTTTCTGCATTGCCTCTTTTACTGCATACACAGTTGATTATTTTTTCATATCTTACCTGAATCTTTTTTTTGATCCATCAGGGCCAAACCCATGTGAGCATGGAGGCTCATGTAAGAACACAGAGGGGTCCTTCACTTGTAACTGCGCTCCAGGTTACACCGGCCCACGTTGTGAGCAGGACATCAATGAATGTGGCTCCAACCCCTGCCAGAATGATGCCACCTGCTTGGATCAGATAGGAGATTACACCTGTATCTGTATGCCAGGTACTGCATTTACGCTCTCTCACACGCTCTATAATCCATTGGAAGATGGCATTTTTTGGCTCTGTGTCTTTATAATAATCTCATGATGATGTGTGTTTGTCTGTGTTCCCCTTCATAGGCTTTGATGGAACACACTGTGAAAATGACATTAATGAGTGTCTCAGCTCACCTTGTCTTAATAACGGTAGATGTCTAGACCAGGTCAGC[C/T]GATTCGTCTGCGAGTGTCCTCAGGGTCAGTATAATGATTGGTGCAGTCAAACAACAATATGGAAGGCACCCATACAGTGCATCCAAAAAGTTTTTACAGCACTTTAATTTTTTCCATTTTTGTTGTTATAGCCTCATTTAAAAGTTGATTAAATTCATTGTTTTTCTCAAACATTCTACAAACACTTCCCTACAATTCCAACGTGAAATTAATTTATTTGACATCTTTCCAAAAGGGTAATAAGTATTTACAGCATTTACCAATAGTCAAAATAGAGATGCTTTCTGTTTCCTCTGATCATCCTTGAGGTGTTTCTACTTGATTGGAGTTGACCTGTTGTAAATTCAGTTGATTGGACGTGATATGGAAAGGCATTTAACTGTCAATTATAAGGTTCCACTGTTAACAGTGCATGTCAGGAAGAAGCTAAAGCACATTTCTGGCCAAATTAAGCATTCAGAGAAAAAACGCCTTTCTTAGTGAGGTGACCAAGAACCCAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34370
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 |
---|---|---|---|---|---|
ENSDART00000032967 | Nonsense | 667 | 2475 | 12 | 35 |
ENSDART00000123474 | None | None | 828 | None | 11 |
ENSDART00000125246 | None | None | 826 | None | 10 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 20134590)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 19564487 |
GRCz11 | 8 | 19596572 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCAGTAATCCCTGCCAGCACGGGACCTGTGAGGATGGAATCAATGAGTA[C/A]AAATGCGTGTGCGAACCTGGATACACAGGTTTGTTCATCCCACATGCACA
Long Flanking Sequence:
TAATCAGCTGATCTTTGTGTGGAAAATCTCTGAGCTTGTGTGCTTCTATTTTAATTGCCTGATCATCAATGACACAACAGAATATTAAAGAACAACTGTTTGCTTGATTTATGCAAGTAATCTGGGGATACTGGTCAAAAAGATTTGTGCAGTGAATAATGGAGTATGTCTACTTTGTCCATCTCCCTGCTTTATTTTTGACAAATCCTATATTCTGAAAAAGTCCTATATTCCTCAATCTAATAAAAGAAATAAAGCTCACTTAACCCCCCTGCTGGATGCATGCTCTTACTACACACACACACACACACACACACACTTAGGAAATAAGGGCATTATGTAAACTTTCTTGCAGACGTTTTCAAGAGCTGCTGTGTAAAGCTTCTTTTGATTATTTTTCCATTTATTTTCATTATAGGTGAGAACTGTCAGATTAACTATGATGACTGTGCCAGTAATCCCTGCCAGCACGGGACCTGTGAGGATGGAATCAATGAGTA[C/A]AAATGCGTGTGCGAACCTGGATACACAGGTTTGTTCATCCCACATGCACAAATATAAATACACATATGCAGATGTGCTTCAGTCATTAAGTTCTGTGTAAATAGTTTGTAACACAACCACACAATGCATCTCTTCAATTTGATAAATCATACGTGTCAAACTCCAGTTCTGGAGGGCCACAGCCCCATACAATTTAGTTTTAACCGCAATGAAACACACCTGATCAAACTAATTAAGTCCTTCAGGCTTATTGTAGGTTTGTGTGTTGAAGCAAGGTTGGAACTTAACTCAGCAGGGTTGTGGCCCTTTAATAGCTGAGTATGACACCACTGATATATGATTGTGCTGCTTCAATCAACAGTGAAAGTTTTCATTATTCACTCTTTTTTTTTTGTTTCAGGGGAACGATGCGCTGATGAGATCAATGAGTGCAGTTCAAACCCATGTCAGAGTGGGGGGACGTGTGAGGATAAAGTGAATGGATTTAAGTGCAAGTGTCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7129
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 |
---|---|---|---|---|---|
ENSDART00000032967 | Essential Splice Site | 790 | 2475 | None | 35 |
ENSDART00000123474 | None | None | 828 | None | 11 |
ENSDART00000125246 | None | None | 826 | None | 10 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 20137043)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 19566940 |
GRCz11 | 8 | 19599025 |
KASP Assay ID:
554-4892.1 (used for ordering genotyping assays)
KASP Sequence:
AATGACCGTCTGAATGATTAYACCTGCKTATGCGCCCGTGGGTTTGCAGG[T/G]AATGGCATGTGATCCTTTCTAAACAAAGTAACAAAGACATTTAGKTCATA
Long Flanking Sequence:
TGAGAATAAGCACAACCCTGTTAGACCATGCGCCGCGGCGCAAATTGTATTTTTCCATCCTTAAAATAGCAAAAAAGGATTTAGACACTCCCTTAATGCTTTTGCTCCATGCACTTTAGACTTTGCGCCTAGATCATTAAAATAGAGCCCTTTGTGTTTTTATATTTCCAGGCAAAGTTCTGTGTCATGATTTGTTTAGGTGTAGTAGCATTCGTTTAAATTATTTGTCCAAAATATAACAAATGCTGTGTTTTGTGAGCTTATTATAAGGAACTATTATATGTTTAAATATACAGTATAAATCCTCCTCAGTGGCCTTTGTTCCTTACTATTTTCAACTGTTTTCTGTGTAGGTATCTTTGTCAATGTGAGCCAGGCTGGGAGGGTACGAACTGTGACCAAGAGAAGAACGAGTGTCTGTCCAACCCGTGTCAGAATGGTGGAACCTGTAATGACCGTCTGAATGATTATACCTGCGTATGCGCCCGTGGGTTTGCAGG[T/G]AATGGCATGTGATCCTTTCTAAACAAAGTAACAAAGACATTTAGGTCATACTCCAACTCCCTGGTTTGCCCTTTCTTTCATTCAGGTTTCAACTGTGAGATCAACATAAATGAATGTGAGTCAAACCCCTGCATGAATCAGGGAACCTGTGTGGATGGAGTCAACAGCTACGTATGCCACTGCAAACCACCTTACACAGGTGATGCACATATTTACAGTCTACAGTTGTCAAAAACACTTTTTTCTTACTTGATTTGACTTCTATAAGCAACATTTATGACACTTAAGTTGTCAGATTTTATAAACTTGATATGAATATGTGAGTTCCCAAATTAAAGTGTTATAATTGTGTTTGACAAATGTATTCATTCATTCATTCATTCATTCATTCATATGTATTGGCAAAATATTTTTATCTATTTGAAAGACACCAAAACTGATAACCTTGCAAAATTTGTTATATACATATAAAAATAAATAATACATTCTAATAATAATAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25391
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 |
---|---|---|---|---|---|
ENSDART00000032967 | Nonsense | 800 | 2475 | 15 | 35 |
ENSDART00000123474 | None | None | 828 | None | 11 |
ENSDART00000125246 | None | None | 826 | None | 10 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 20137160)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 19567057 |
GRCz11 | 8 | 19599142 |
KASP Assay ID:
554-7785.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCCCTTTCTTTCATTCAGGTTTCAACTGTGAGATCAACATAAATGAATG[T/A]GAGTCAAACCCCTGCATGAATCAGGGAACCTGTGTGGATGGAGTCAACAG
Long Flanking Sequence:
AGACTTTGCGCCTAGATCATTAAAATAGAGCCCTTTGTGTTTTTATATTTCCAGGCAAAGTTCTGTGTCATGATTTGTTTAGGTGTAGTAGCATTCGTTTAAATTATTTGTCCAAAATATAACAAATGCTGTGTTTTGTGAGCTTATTATAAGGAACTATTATATGTTTAAATATACAGTATAAATCCTCCTCAGTGGCCTTTGTTCCTTACTATTTTCAACTGTTTTCTGTGTAGGTATCTTTGTCAATGTGAGCCAGGCTGGGAGGGTACGAACTGTGACCAAGAGAAGAACGAGTGTCTGTCCAACCCGTGTCAGAATGGTGGAACCTGTAATGACCGTCTGAATGATTATACCTGCGTATGCGCCCGTGGGTTTGCAGGTAATGGCATGTGATCCTTTCTAAACAAAGTAACAAAGACATTTAGGTCATACTCCAACTCCCTGGTTTGCCCTTTCTTTCATTCAGGTTTCAACTGTGAGATCAACATAAATGAATG[T/A]GAGTCAAACCCCTGCATGAATCAGGGAACCTGTGTGGATGGAGTCAACAGCTACGTATGCCACTGCAAACCACCTTACACAGGTGATGCACATATTTACAGTCTACAGTTGTCAAAAACACTTTTTTCTTACTTGATTTGACTTCTATAAGCAACATTTATGACACTTAAGTTGTCAGATTTTATAAACTTGATATGAATATGTGAGTTCCCAAATTAAAGTGTTATAATTGTGTTTGACAAATGTATTCATTCATTCATTCATTCATTCATTCATATGTATTGGCAAAATATTTTTATCTATTTGAAAGACACCAAAACTGATAACCTTGCAAAATTTGTTATATACATATAAAAATAAATAATACATTCTAATAATAATATTTTAGGATGCTTTTATGAATAGACAGCTCAAAACAGATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATGTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41176
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 |
---|---|---|---|---|---|
ENSDART00000032967 | Essential Splice Site | 868 | 2475 | None | 35 |
ENSDART00000123474 | None | None | 828 | None | 11 |
ENSDART00000125246 | None | None | 826 | None | 10 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 20138965)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 19568862 |
GRCz11 | 8 | 19600947 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGCTGGATTACACCAGCTACACCTGCAAATGCCACAGCGGCTGGGAGGG[T/C]GAGCGCTTCAAGTCTGGGTGTTGGTGTGATTACATATTTAAGTCAGTTAA
Long Flanking Sequence:
AGCATTTGAATAACTAAATGTAAAAACACTGTGTAGTTCGCTGTAAAAATAATTCAATATAAGATACAAATGGTAAATTTATTGTGCTTGAATTCTTAGTCATAGGCCTTAAAAACACATTCACTCCGTTATCCTTACGTCCTGCAGTGATTCCACAAATCACATCTAAAAGATTTCTCCTAGACAACTAATTGCAACATATGAACTCAACATTGCATTTCCTGCGATGTGACTATTGCAGATACACACATTGCAATATCGATAATGAAACGAAATAGTGTGCAGCCCTATTTTGGGGTTTTTACACTATGGGACCTGTACCAAATCCAGCTGAACAGCATTAAATTCTCCACAACTGACTGGACTTTTCACTTCTCAGGGAAACACTGTCTGGAGAAGTTGATCCCATGTGCCTCTCAGCCCTGTCAGAGACGAGGAGTCTGTCAGCCATCGCTGGATTACACCAGCTACACCTGCAAATGCCACAGCGGCTGGGAGGG[T/C]GAGCGCTTCAAGTCTGGGTGTTGGTGTGATTACATATTTAAGTCAGTTAAATGTCTGTTGAAGGAACAGTATCAATAGATATTAAGCTGACAGTCTACTAATACTTAAATGGACCATCAAAATAAAGTGTTTCTCATATTTGATCTGAGACGATCACATATAAACTTTTCCTTGATAAAACATGATGTGAGCTGTGGACATCTATTAAAAGTGTCTGAAGGGATTTTGTCTGGTATGTGTGTGCAGGAGCCCAATGCACAGAGGATAAAGACGAGTGTAAGAAGAGCCCTTGTCAGAATGGTGCTCGCTGTGTGAATATAGTTGGCAGCTACCGTTGCGAATGCCCGCCTGGATACAGCGGGGACAACTGCCAGACCAACATCGATGACTGCAGCTCTAGTACGTGTCTTTCCCACACCGATTTTTCTATATGCAGTGGCTTGGTGGGCACATGCGCGTGTCCTTCTGTTAATATCTTGTTAAAGGAGGGTCGTGCAGCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34371
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 |
---|---|---|---|---|---|
ENSDART00000032967 | Nonsense | 909 | 2475 | 17 | 35 |
ENSDART00000123474 | None | None | 828 | None | 11 |
ENSDART00000125246 | None | None | 826 | None | 10 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 20139336)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 19569233 |
GRCz11 | 8 | 19601318 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTGGCAGCTACCGTTGCGAATGCCCGCCTGGATACAGCGGGGACAACTG[C/A]CAGACCAACATCGATGACTGCAGCTCTAGTACGTGTCTTTCCCACACCGA
Long Flanking Sequence:
CTTCTCAGGGAAACACTGTCTGGAGAAGTTGATCCCATGTGCCTCTCAGCCCTGTCAGAGACGAGGAGTCTGTCAGCCATCGCTGGATTACACCAGCTACACCTGCAAATGCCACAGCGGCTGGGAGGGTGAGCGCTTCAAGTCTGGGTGTTGGTGTGATTACATATTTAAGTCAGTTAAATGTCTGTTGAAGGAACAGTATCAATAGATATTAAGCTGACAGTCTACTAATACTTAAATGGACCATCAAAATAAAGTGTTTCTCATATTTGATCTGAGACGATCACATATAAACTTTTCCTTGATAAAACATGATGTGAGCTGTGGACATCTATTAAAAGTGTCTGAAGGGATTTTGTCTGGTATGTGTGTGCAGGAGCCCAATGCACAGAGGATAAAGACGAGTGTAAGAAGAGCCCTTGTCAGAATGGTGCTCGCTGTGTGAATATAGTTGGCAGCTACCGTTGCGAATGCCCGCCTGGATACAGCGGGGACAACTG[C/A]CAGACCAACATCGATGACTGCAGCTCTAGTACGTGTCTTTCCCACACCGATTTTTCTATATGCAGTGGCTTGGTGGGCACATGCGCGTGTCCTTCTGTTAATATCTTGTTAAAGGAGGGTCGTGCAGCCTAGTGAGATTAAGAAGGACTCCTAAATAAGATGATTCTTATGTGACAAACAAACAAACAATAAAAAACTAATAGAATCTTTGGCTGTCAGTAAAATAAATAATTAAGGTTAATCTCATTACCAGTTTGAAGCAGAAAGAAGATAATTAGTTTGGTTGAGTATATTAAATTAACAAGTTAACTGTGACAGCCCAGAAAAGAAATTGTGTTTTGTATTTTCTGCCTGTCTACTCAATCTGGAAATACTTCAATTTTTTTTCTCATTTGTTTGTTCTCCAGATCCATGCCGTAACGGGGGTACATGTGTTGATAAAGTGGGCCGGTACTTGTGCGAGTGCAGAGCTGGTTTTTATGGCGAGCGCTGTGAGGAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41177
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000032967 | Essential Splice Site | 1114 | 2475 | None | 35 |
ENSDART00000123474 | None | None | 828 | None | 11 |
ENSDART00000125246 | None | None | 826 | None | 10 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 20140982)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 19570879 |
GRCz11 | 8 | 19602964 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATTGTGACATCCCCAGCATGTCCTGCCACGCTGTTGCCCTCAACAAAGG[T/A]AATACATTAGACATCTTCAGTGTAATTCCTTTGGAAGATATTTTATGTAT
Long Flanking Sequence:
TTTATTTGTGTTCAACAGAAGAAATAAACAACATGAGGGAGAGTAAATAATGAGATATTTTTCAACTTTGGGTAAAATATCCCTTTGTTTTATGCATACTTTCTTGACCAAATGCTTTTTAAATGCATTTGCATTCTTTCAATACAGAAAATACAAACTAGTTATTTGTAGTGATTTGATCATTTGGTTGCTAGTAAAGACCCTGATATACTCAAGTGAAGCAGTATTTAGATGAAAACTATTTCAACATGTTTAAAATGATGTAATGCCAGTTTGTTCTACAGTTTCACTTTGATTTTGATGTATATCTTTCAGTGATTGGTGTATACACTTTTGTTTTTGCAGTCAATGGTGAATTTGTGCAGTCAGATTAAGTGTCAGAATGGAGGTACTTGCATCCAGAAAGAAATCAATTGGAGATGCAGCTGTCAGCCTGGCTGGACAGGCCTGTATTGTGACATCCCCAGCATGTCCTGCCACGCTGTTGCCCTCAACAAAGG[T/A]AATACATTAGACATCTTCAGTGTAATTCCTTTGGAAGATATTTTATGTATAAGTCTTTAATGTAAACTCTGGTGTGCTGCAGGTGTGGCGGAGAACATGGTCTGCAAGCACGCAGGTCATTGTAAGAACATAGGCAACACACATCAGTGCGAGTGTCAGAAGGGATATACGGGCAGTTACTGCGAGACTGAGATAGATGAATGTCTATCCAGCCCTTGCAGAAATGGAGGGACATGTGTGGACTACCAGGGTGGATATGACTGCAAGGTATCACCAATCTCACTTACTAACTGCTGAAAAGTGATTCTAAAACATGTTACAAATATTTTACAAATATTTCACATTAATGCAGTTCATTTGATTATGTAAATAATCCTGCAAAAGTATAATGTTTACCACAAATATAAAAATATAAGCAGCACAATTGTTTTTACAGTGATAATATTAAGAAATTGAGAATGAAGTCTACATTTTAGAATGATTTCTGATGCTGAAAATTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38684
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:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000032967 | Splice Site, Nonsense | 1508 | 2475 | 25 | 35 |
ENSDART00000123474 | None | None | 828 | None | 11 |
ENSDART00000125246 | None | None | 826 | None | 10 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 20146644)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 19576541 |
GRCz11 | 8 | 19608626 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCCTATTCGACAGCTTTGAATGCGACAAACATTCATCGGTGGGAATTTG[C/A]AAGTATGTTTACCAGTGTATTTTAATACTTTAGCACCTCACTTCTCTCTG
Long Flanking Sequence:
GGCTTTAACTGTGGCAATTATGAGATGTTCCCATGTGCCAGTTTACGCTGTCTGAATGGTGGACAGTGTGTGGAGATAAAGAGCCGCCCTCAGTGCCACTGCCCAGTGGGTTTTACTGGAACACACTGTGAGATGTTAACAAACCATTGCGTGTGTCAAAATGGTGGCACCTGCATGCCAGATGAGTCCAACAAGTTTAGCTGCCGGTGTCCACCAGGGTTTAGCGGGGAGACCTGTCAGGAGACTCCACCTTCTTGCCCTTATCCGGATTGCGAACAGCGGGCTGGAGACAAAGTATGTGACCTGCGTTGTAAGAACCCGGAGTGTGACTGGGATGGAAGTGACTGTACGCTCCACTGGGACAAACCCTGGAAGAACTGCAAAGCCTCAGTGTCCTGCCCAGACTTATTTCATAACGGCCGCTGTGACCCAGAGTGCAACAATGCAGGCTGCCTATTCGACAGCTTTGAATGCGACAAACATTCATCGGTGGGAATTTG[C/A]AAGTATGTTTACCAGTGTATTTTAATACTTTAGCACCTCACTTCTCTCTGCTAGGAAAATTGCTGATATAATTAAGCAGTATTTTACAAAACTACAGTTTTAGCATAAACCTGTCTCTGAAAAAAACAGGAAATGTACTGATAATGGTAGGGTTAGCCATGTCCTTTCTTATTCGGCACCAAACCAAATTGTGCACATTATGCCTACTAGATGTTAATTGCATTATGTTCTGGTATAAAATTTACAGCACATTTTAGACTTATTCAATTCAACTTATGTGCAAGAAAATAAATATTTATGTAAAGTCATAACGAGGACTCACCAGCACACACTTTCAGAGCCATAGCATTTTAGCCTTTATTTTCTATATTTCATTTTGCACTTTTGCTTAATCACTAATTTCATCTCTGCACTGACATGGAATAGATCAAAAAACATGTTCTAGCTCCAATCTCTCTTACCCTTGTTTTTCCTTAGATACGACAAATACTGTGCAGATC
Associated Phenotype:
Not determined