ZMP
si:ch211-198n5.12
Ensembl ID:
ZFIN ID:
Description:
retinal pigment epithelium-specific protein 65kDa [Source:RefSeq peptide;Acc:NP_001107125]
Human Orthologue:
RPE65
Human Description:
retinal pigment epithelium-specific protein 65kDa [Source:HGNC Symbol;Acc:10294]
Mouse Orthologue:
Rpe65
Mouse Description:
retinal pigment epithelium 65 Gene [Source:MGI Symbol;Acc:MGI:98001]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa11158 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa11158
Status:
Available for shipment
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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 |
|---|---|---|---|---|---|
| ENSDART00000038725 | Essential Splice Site | 82 | 532 | 3 | 14 |
| ENSDART00000076600 | Essential Splice Site | 82 | 532 | 3 | 14 |
Genomic Location (Zv9):
Chromosome 8 (position 17231102)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 16675990 |
| GRCz11 | 8 | 16711702 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCMTTCACAAATTTGACCTGAAGGATGGACGTGTTACATATCATCGCAGG[T/C]AAAATGACTAATAATTTATGAAATGATCAACACTGGGGCACTGCTCATTA
Long Flanking Sequence:
TTATTTTCACTTTTAACTAGTGAGGGAGAATAATGTGTATTAATTAAAAATGTGGTCGCTTTAAGCATGTGACTCGTGCTAAAATAAAGTTTTCATTCACAGTCTTGAACACCCAGCCGGTGGATATAAGAAAGTCTTTGAGTCGTGTGAAGAGTTAGCGGAGCCCATTCCTGCTCATGTCTCAGGTTTACATGCTTATAATCTCATCAAGCATTTTCTGTTGAATACTTTTCCATATTTATTTTCTTCATGCTTACTTATTCGCATCTGATGTTGGAGCTGTTTAATAAGACTTTTGGGGACTGAAGAATTTGTTTTTGTTAGCTTGAACACTCCATCTTTATATAGGTGAAATTCCAGCATGGCTGTCTGGCAGTCTGCTCCGCATGGGCCCTGGCCTCTTTGAAGTTGGAGATGAACCATTTTATCATCTTTTTGATGGCCAGGCTCTCCTTCACAAATTTGACCTGAAGGATGGACGTGTTACATATCATCGCAGG[T/C]AAAATGACTAATAATTTATGAAATGATCAACACTGGGGCACTGCTCATTATTTATACTGGATGTTCATACTAGGGCTTCACGATATTGGAAAATTTTGACATTGCCATATTTTTTTCCCCTGTCATATAAATACAGTTGGTCACACTTTATTTTCATGGCACATTTGTTAAATTTAAGTTGCATTGCATCTACATGCCAATCAATTCATTATTGCGGCGTGGCATGACTGTTCAGACTGACACAAGGAGTCATCATGTTGTTAATTTGTTTCCTTTAGCGACAGCAGTAAATGACTAAACAATTATTTGAACTGTACAACTGCTAAGCTAAAAATGTACATTTATCTTTTTTTATCCACAAAGTGTGCAGCTTTTGTCACTGCAGTGCATCTTTCTGGGAGATAGATATTGATATCAGTATACTTACTAAATAGTATACTTTTATACTTGACCTTTACTTAAGTATACTTCTTTTTCCTAAAGGTGAATTGCTGTCTTAA
Associated Phenotype:
Not determined