ZMP
NOTC1_DANRE
Ensembl ID:
Description:
Neurogenic locus notch homolog protein 1 [Source:UniProtKB/Swiss-Prot;Acc:P46530]
Human Orthologue:
NOTCH1
Human Description:
notch 1 [Source:HGNC Symbol;Acc:7881]
Mouse Orthologue:
Notch1
Mouse Description:
Notch gene homolog 1 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:97363]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa43576 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa39316 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa43576
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 |
|---|---|---|---|---|---|
| ENSDART00000046633 | Essential Splice Site | 1003 | 1655 | 14 | 20 |
| ENSDART00000122949 | None | None | 298 | None | 6 |
| ENSDART00000129224 | None | None | 422 | None | 9 |
Genomic Location (Zv9):
Chromosome 21 (position 5073334)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 4613026 |
| GRCz11 | 21 | 4777591 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAAAAAGAAGAGGAGAGAACCAGTGGGAGAGGACTCTGTCGGACTCAAG[T/G]CAGTTTCCACACACTTGCATGAGAGCTCTATATATTAATGCCATATATTC
Long Flanking Sequence:
AATATCAGATTTTTTGTTGTTTATTTTTTTTTCTTTTGTTAATTTGCATTGTAAAAATAGTATATCATTTCAAATCTAAATAATTTATGAAAAACAATTTATTTATTTGCATTATTTATCAATTATGCAATAGCAATATTTTTTATCCACTTCAAATTTTTATTAATATAGGATTACCAATTTATTTTTGGATTTTAATTTTTAGAGATGGTATGAAGGAAAAATGCATCTATTATAGCTGAGTGCACTATATAATCTAAATATGATGTTAAATATGTGCATGTGCAGGTGAAGGTGGTCCCCCAAAGACTGGTGAGATGTACCCCATGTTCCTGGTCCTGCTGGCTCTGGCTGTTCTGGCTCTGGCCGCTATCGGTGTGGTCGTCTCCAGGAAGAGGAAGCGGGAACATGGCCAGCTTTGGTTCCCCGAGGGATTTAAAGTCAACGAACCCAAAAAGAAGAGGAGAGAACCAGTGGGAGAGGACTCTGTCGGACTCAAG[T/G]CAGTTTCCACACACTTGCATGAGAGCTCTATATATTAATGCCATATATTCTGCTTTGGTTAGCTCTTTAATTTAAGCCGGTTTTATTTGTATTTATTGCTTTTTTTAGTTGTTATTGATATTGTAAATCTGCTTTAGGTCAAGACATTTTTATTTCTGTAACACTTTTATCATGTAGATGGTGTCAAAGCAGCTTGACATAGATGAAGAATAAAAGTGTAAAAAGCCATAACAAATATTTATATTAATATATTTATTTATTTACTTATGTATTAGTTTGTATATTTTTCATTTTTTTGCGTAAGTACATCCGTCATTTGTAATATTTTTAAATTGTTGTTACCATTTCCAATTATTTTAAATTTAATTTATTGTAATTATTGATATTTAGCGTTTGCTTTTTTTAAATGTTTTTTTAAGCTTTTTTCATATGTAAAAATAAAAGATCTGCACTCATCCAAATTCAGCACAAAATGATTTTTCCATATATTTATAATAATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39316
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 > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000046633 | Essential Splice Site | 1003 | 1655 | 15 | 20 |
| ENSDART00000122949 | None | None | 298 | None | 6 |
| ENSDART00000129224 | None | None | 422 | None | 9 |
Genomic Location (Zv9):
Chromosome 21 (position 5074078)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 4612282 |
| GRCz11 | 21 | 4776847 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCACCTTTTATTACATGTAATGATGCTAACCTGTGACTCTGTGTTCCATC[A/G]GGCCTTTGAAAAACTCAGACAGCTCTCTGATGGATGAACAGCTGAGCGAA
Long Flanking Sequence:
TTAATATATTTATTTATTTACTTATGTATTAGTTTGTATATTTTTCATTTTTTTGCGTAAGTACATCCGTCATTTGTAATATTTTTAAATTGTTGTTACCATTTCCAATTATTTTAAATTTAATTTATTGTAATTATTGATATTTAGCGTTTGCTTTTTTTAAATGTTTTTTTAAGCTTTTTTCATATGTAAAAATAAAAGATCTGCACTCATCCAAATTCAGCACAAAATGATTTTTCCATATATTTATAATAATAATAATAATTATAATAATAATAATAATTATTATTATTATTATTATTATTATTTTCTAAGCACTTTAAATTAAATCTTTAAATTGAATCTTTTAAACTAAATAAAAATGAAAAAAAATTGTGTTTGGTGCTTTTATCTTTGCTGGTTGTGGATTAATTTTAAACCATAAAAATCATTTGGTGACATAACCATTGTTCACCTTTTATTACATGTAATGATGCTAACCTGTGACTCTGTGTTCCATC[A/G]GGCCTTTGAAAAACTCAGACAGCTCTCTGATGGATGAACAGCTGAGCGAATGGGCTGAAGACGACACCAATAAACGATTCCGGGTGAGTGAGAAAACACCGTCTGTATTAAAGACCCTCTGAAATCAGCATATTTTGATTTGTCTGAATAAGTTTGATTCATAAATGAGATGTCCTTTAATATTGAATTGCATATATATTAGCTGTCTCGATACTGGAATTCGGTACCAATTGATACTGACATTTTAAAAGCATCCATTTCCCGCTAACATCTGAGCGCTGTTGAACACTTTCCTAAACAGTGCTGATTTGCCATAATGTCCATGTGCTCAACAGAAATAGCTGTGATTGGCTGTGAAGGTCATCAGTCCACTGAACTCACCGCTGTTCACTAAGTGTAATCACAGATACAGGGACACTGGAGCATTTCAAAGCCACGATTCATCAGCAGATCGCTCATATGTCAGCTTATAGACAAACCAGCTGATCTTCGCAGCTTTA
Associated Phenotype:
Not determined