ZMP
si:ch73-287m6.1
Ensembl ID:
ZFIN ID:
Human Orthologue:
RIMBP2
Human Description:
RIMS binding protein 2 [Source:HGNC Symbol;Acc:30339]
Mouse Orthologue:
Rimbp2
Mouse Description:
RIMS binding protein 2 Gene [Source:MGI Symbol;Acc:MGI:2443235]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37270 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37270
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000129358 | Essential Splice Site | 34 | 1052 | 1 | 22 |
| ENSDART00000137739 | Essential Splice Site | 34 | 1138 | 6 | 25 |
The following transcripts of ENSDARG00000088977 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 16808784)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 18317172 |
| GRCz11 | 21 | 18353808 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCTGGCTTTCCTCAACTCCAGACAGCAGGAGATCAACCTTCTGCAGAAG[G/A]TAAAAACAGCTGCACACACACACACACACACACACACACACACACACACA
Long Flanking Sequence:
AATATACCAACCAAGAGTAAAGAAGGAAACCTGAGGCTAGACATCTAAACAAACATTCTGTATTTTTAGTGATTTTTTTCATTTATTAGTTCTTGTGCTGTGTTGTTTTCAGATTCTGTATTTTTACAGGACATGTTGTATTTACTCGTTGTGCCGGTCGATCAATGGTGGTTAGCATCATCCCTCACTGTCACTGTTGCACTTAATGTGTCTGTTAAAACGCCTGTGTGGTTATTCATGATGCCTTTTCCCAATTTTTCTCTTTAGAACCTGAAAACAACAGGTCAGAACACTGCTTAATGGTTTGTTTTACAATGTTTTATTAAGAAAGCAGGAGTTTCTATAAATACTCCCGGTTTTAACATGATCTCTCTTTTTTCCTCTTTGTTTTTCAGCATATGCGAGAGGCTGCGGATCGACGGCAGCAACTGGAGGCAGAGCATGAGCAGGCCCTGGCTTTCCTCAACTCCAGACAGCAGGAGATCAACCTTCTGCAGAAG[G/A]TAAAAACAGCTGCACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAAACAAACACACACACACACAAATGCAAAGTTTTTAAAGGTTATGTGAAATCAAAATGACAATGTTTATTTTGATAGCTTGCATAGTTCATCTTTTTAAGAACACTTAAAATTAATCTGTCCAAGTTGGGTATCATTAAATAAACTCTGACTATTTCACATTTGAAGAGGCAGTCCTTCTCTGTTGATGTCATTTTTTCAACAATATTCTTAACCACTTTTTACCACTTGGATTATCATCTTTATACTGATGACATTCAATTATACAATTCTGTTGAGCCCAGAGACACTGATGTAAGCAAAAAGTTGTATGTCCAGTATTGTACAATGAATGGCTGCATTTTTTTTTAAGTTGAAGAAAAATCAACAAAAATTTTTATTGTGGGCAAAAAAACCTGAGGATTGAAGCAGAATTGTGTTCTTT
Associated Phenotype:
Not determined