ZMP
zgc:56039
Ensembl ID:
ZFIN ID:
Description:
Protein EMSY [Source:UniProtKB/Swiss-Prot;Acc:Q7ZUV7]
Human Orthologue:
C11orf30
Human Description:
chromosome 11 open reading frame 30 [Source:HGNC Symbol;Acc:18071]
Mouse Orthologue:
2210018M11Rik
Mouse Description:
RIKEN cDNA 2210018M11 gene Gene [Source:MGI Symbol;Acc:MGI:1924203]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa34801 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa34801
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 |
|---|---|---|---|---|---|
| ENSDART00000101661 | Essential Splice Site | 518 | 1150 | 9 | 18 |
Genomic Location (Zv9):
Chromosome 10 (position 356905)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 10 | 291800 |
| GRCz11 | 10 | 291800 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTCTGGCCACGCTCGGGGGCAAGATCATCACCACCAGCATGGTGTCCGG[T/C]AAGTGTCATTACCACACTGTCATTAATTAGTGACTTACCATATTTATCAG
Long Flanking Sequence:
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCAGGTGTGAAGATCATCACGCAGCAGATGCAGCCCAGTAAGATTCTGCCCAAACCCTCCAGTGCGGCGCTGCCCAGCAGTAGCTCCGCCCCCATCATGGTGGTCAGCAGCAATGGAGCCATCATGACCACTAAACTGGTGTCCACTCCAACAGGTACACACACACACACACACACAAACACACACACATCAGCTGTTGTGTGTTTTAGGCAGTGCCTCCATGTGCACTCGTCTCTCAATGAACCCCACGGGTACACACACACACACACTCACACTCATCAGCTGTTGTGTGTTTCAGGCAGTGCCTCCACATACACTCGTCCCACAGTGAGCCCCATGGGTACTCGTGTGGCCACTTCTCCTGCTGGAGCCACGTATGTAAAGACCACCAGCGGCAGCATCATCACCGTCGTGCCCAAAGCTCTGGCCACGCTCGGGGGCAAGATCATCACCACCAGCATGGTGTCCGG[T/C]AAGTGTCATTACCACACTGTCATTAATTAGTGACTTACCATATTTATCAGTCAGGGGTGCGTTTCAGAAAACCATCATGAGGTCGCAGGTTCCATCGTCACAGTTGTAGCCACAGCCATATCACCCTGCAGCGGGAAGCTCACTGAAGCTAAGCAGGGCTGAACCTGGTCGGTATCTGGATGGGAGACGACATGGGAACACTAGGCTGCTGTTGGCAGTGGTGTCAGTGAGCAGGCAGGGGGCGCTCAACCTGTGGTCTGTGTGTGTCCTAATGGCCCAGTATAGTGAAGGGGACACTATACTGTCAGTGAGCGCCGTCTATCTGATGAGCTGTTAAACTGAGCTCCTGCCTCTCTGTGCTTATTAATAACCTCGTGGCACTTCTGGTAAAGAGTAGGGGTGTAACCAAACCCCCTCCATCAGCCCTTACCCATCATGGCCTCCCAATCATCTCCATCCACTGATTGGCTCCATCACTGTCTCTCCAATCCACCTATAGC
Associated Phenotype:
Not determined