ZMP
siah2l
Ensembl ID:
ZFIN ID:
Description:
E3 ubiquitin-protein ligase Siah2 [Source:UniProtKB/Swiss-Prot;Acc:Q7SYL3]
Human Orthologue:
SIAH2
Human Description:
seven in absentia homolog 2 (Drosophila) [Source:HGNC Symbol;Acc:10858]
Mouse Orthologue:
Siah2
Mouse Description:
seven in absentia 2 Gene [Source:MGI Symbol;Acc:MGI:108062]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa24011 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa24011
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 |
|---|---|---|---|---|---|
| ENSDART00000065169 | Essential Splice Site | 147 | 330 | None | 2 |
| ENSDART00000113813 | Essential Splice Site | 147 | 207 | None | 3 |
| ENSDART00000122515 | None | None | 231 | None | 2 |
Genomic Location (Zv9):
Chromosome 21 (position 37677528)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 38669563 |
| GRCz11 | 21 | 38717269 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAACTTGGCAATGGAAAAAGTTGCATCTACTCTGCCGTTTCCGTGTAAGG[T/C]AAGAATTGCGCGTTCACGACTGTCATAATAACCAATGCAAAGTCGCCTGC
Long Flanking Sequence:
CTCGGGCTTCAGCTACTCGGGGTTTTACACCATCAAACATCGACCGACACTCCTCGCCATGAGCCGTCCGTCCTCTGCGGGTGGAGCGGCCGGAGGACTCGGAGCTGGAAAAGCAGGAGGAAGTAAGCATGGAGGTTCTGGAGGAACAACTGCCTCTGCTGCCGCCGCCGCCGCTGCTGCCGCGGCCGCCGCAGCAGCTGCAGCCGCCGCGGGGGTGTCCGGCTCCGTCGCGGGTTCTGGTACGGTTCCCGCAGCAGCTGTAGCGCTTCCAGTCGCGGCTCTTCCGGGACAGTCCCCCGAGCTGACAGCGCTGTTTGAGTGCCCGGTGTGTTTCGACTATGTGCTGCCGCCGATCCTGCAGTGCCAGGCTGGGCATCTGGTGTGTAACCAGTGTCGGCAAAAGCTCAGCTGCTGCCCGACCTGTCGCGGCCCTCTCACGCCGAGCATACGGAACTTGGCAATGGAAAAAGTTGCATCTACTCTGCCGTTTCCGTGTAAGG[T/C]AAGAATTGCGCGTTCACGACTGTCATAATAACCAATGCAAAGTCGCCTGCAGTATTGTTTCAGTCAGCACTGCATGATGGCACGCATGAGTTTAGGAAGTGTAACTAAAACTCGAGATGCCACAGGTGCATTGGCTATCATATCAGATCAGTGTTTTTGTTTATGCTGCTGAAGTGTGTTTTTTCATTGGTTGAATATTATAGTCGGTCACTTAGGTAGTTAAATTGAGTTTTTAGTTGGATGAAATAACCGAAATTGAGAGACTTTAGTAATTTAGTGGCTTCAATATTGCTTCAACCAATGGCATCAGTTAGGAGGCGGGGCTTTGACTGTATCCAACCAATGGCTGGCTAAGGAGGCGTTGTGTATCGGGGAGACCTGTTTGAGAACAAACATTTTGTAATTTAGATGGTTGATGTTGAGGGCACATGTCTAAAAATTGAGACTGACATGGCTTAATCATGAAAACTAGTCCAATTTTATGATACTTTTGTTTTTTT
Associated Phenotype:
Not determined