ZMP
si:ch211-221n20.8
Ensembl ID:
ZFIN ID:
Description:
Novel notch family protein [Source:UniProtKB/TrEMBL;Acc:Q5RJ05]
Human Orthologue:
VWDE
Human Description:
von Willebrand factor D and EGF domains [Source:HGNC Symbol;Acc:21897]
Alleles
There are 6 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37178 | Nonsense | Available for shipment | Available now |
| sa16574 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa37178
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 |
|---|---|---|---|---|---|
| ENSDART00000057960 | Nonsense | 217 | 737 | 6 | 20 |
| ENSDART00000138641 | None | None | 373 | None | 11 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 20 (position 52938572)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 52791419 |
| GRCz11 | 20 | 52597035 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGGTCGAGGAGACTGTGAAAACACACTAGGCAGTTACAGGTGTGTGTGT[C/T]AGCGTGGTTACCGTGGCAATGGCACACACTGCACAGGTGAGTAACACACA
Long Flanking Sequence:
CATCTCTATTTATCTATCTATCTATCCATCCATCCAATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCTGTCTGTCTGTCTGTCTGTCTGGTGCTTTGTATAGGCTTTCTTACATGTTAAGGTAGCATCTAAACTATGTTCACCCTGCATGATGTGCACGCAGATGTGGATGAGTGTGTGGAGCAGCCACACCTGTGTGACGGTCGAGGAGACTGTGAAAACACACTAGGCAGTTACAGGTGTGTGTGT[C/T]AGCGTGGTTACCGTGGCAATGGCACACACTGCACAGGTGAGTAACACACACGCAGACGTGCATGTAAACATTCGATGAAAATGGTTTGAGAAAAGCTGTTACAGAAATTTGTAAACATTGTTTGATTACGTCAATGTCAAAAGCGTGAACACCCACATGTGCTGAGTCCTGAGGAAAACACTGAATCCGATTTCTGGTTTGCTCACAGACATAAATGAGTGCTTGTCCGGGGATCACGGCTGTGACGTCAACGCTCGCTGTGGGAACATCATGGGCTCATACTTCTGCCAGTGTCATCAGGGATACAGCGGAGACGGACACGCCTGCTACGGTCAGTCTGACATCCAGATTACACATCCATCCTGTCTGAATCATGATGATGATGAAGGTGATGATAGCAATGATGGTGATGATGAGGGCGATGGGGATAATTGTGATGGTAGCTATAATGGTCATGATGATGATGATGATAGTGATGACGGTGATGATGATGATGGTGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16574
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 |
|---|---|---|---|---|---|
| ENSDART00000057960 | Essential Splice Site | 540 | 737 | 14 | 20 |
| ENSDART00000138641 | None | None | 373 | None | 11 |
Genomic Location (Zv9):
Chromosome 20 (position 53059979)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 52912826 |
| GRCz11 | 20 | 52718442 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AACGTCTGTCTGTGTYCTCCAGGGTGGACAGGTGAAGGGTGTCACACAGG[T/C]AGCAACTCWCCACACATCCACATGCACACACTCACTCTYCTGTAYAATAC
Long Flanking Sequence:
TAATATTATTATATTTATTATTATATTTATTATTATTATTATTATTAAGGAGGCCATGGTCTTTAGCTTCCTTGTTAGAGCAAACAACTCCAATACAAAAAATAATCGCTGGTTCACTCCCTGCTCAGACCGGATTGGGTGCATTAGGACCGGTGGGTAACACATACGGGCTCGTCCGGGATGGGAGTGAGGTGGGCCATGGTCTTTAGCCTCCTTGTTAGAACAACTGACTCCCATGCACAAAATCGCTGGTTCAATCCCAGCTCAGACCGGGTTAGGTGCAGTAGGACCGGTGGGTAACATAAATATGCATATATGCATGTAAATTTGACTGTATTGTTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAGCCATGTGTTCTCCACCCTGCGCTCACGGAGGATCCTGCATGAGGTGGAACGTCTGTCTGTGTTCTCCAGGGTGGACAGGTGAAGGGTGTCACACAGG[T/C]AGCAACTCACCACACATCCACATGCACACACTCACTCTCCTGTACAATACACACACGTACACACAAACTCATAAATACACACGCGCACACTCACACTTCCATATGATGTTACACAGATACGCACACTCCTCCTGCATACTAACTCACATAAACACACACACATTCAAACACACACACACACACACACACACACACACACACACACACACACACACTTCTTTTCACTCACCCACACCACACATATACATACACTACTCTACATACTAACACACAAAACACACACTTCTGCATACTAACACACTAACACAAACATACACAAACACACACACTTTCTGTAACACTGACAATAATAATGGTGTGATATGTGTGTGTGTGTGTGTTAGCGGTGTGTGAGCTGCCATGTGCAAATGGTGGACGGTGTATTGCTCCAAACACCTGCCAGTGTCCATCAGATTACAGCGGCCCGCAGTGTCTCACCCGTGAGTATCTGTGTGTATGTG
Associated Phenotype:
Not determined