ZMP
prph2b
Ensembl ID:
ZFIN ID:
Description:
peripherin 2b (retinal degeneration, slow) [Source:RefSeq peptide;Acc:NP_571642]
Human Orthologue:
PRPH2
Human Description:
peripherin 2 (retinal degeneration, slow) [Source:HGNC Symbol;Acc:9942]
Mouse Orthologue:
Prph2
Mouse Description:
peripherin 2 Gene [Source:MGI Symbol;Acc:MGI:102791]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa42120 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa42120
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000020671 | Nonsense | 179 | 342 | 1 | 3 |
Genomic Location (Zv9):
Chromosome 13 (position 2943065)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 3120484 |
| GRCz11 | 13 | 3253834 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCCGCTGCTGTGGCAACAACAACTACAAGGATTGGTTTGAGATCCAGTG[G/A]ATTAGCAACCGTTACTTGGACTTCAGCAATGATGAAATTAAAGAGTAAGT
Long Flanking Sequence:
CGAGTCAAGCTGGCCCAAGGACTTTGGCTACTGTACTGGCTTTCTGTCATGGCTGGGATCCTCATCTTTAGCACGGGCATCTTCTTAAAGATCGAGCTGCGCAAAAGAAGCGAGATGATGGATAACAACGAGAGCCATTTTGTACCCAACCTTCTCATTCTGGTGGGACTTGTGGCTTGCGGTGTCAATACTTTTGGGGGGAAAGTGTGCCATGATTCCCTTGACACAGTCAAGTTCACCAAATGGAAAACTATGCTGAAGGCCTACATGAGTGGATGTGTGATTTTCTGCATCGTCCTCTTTGTCACGGCTCTGCTGTGTTTCCTGATGCAGATTTCCCTGCACTTTGCCCTGGCTGAAGGCCTGAAGAATGGAATGAAGTATTACAAAGACACCGACACACCAGGACGGTGCTTCATGAAGAGAACCCTGGATATGACCCAGATTGAGTTCCGCTGCTGTGGCAACAACAACTACAAGGATTGGTTTGAGATCCAGTG[G/A]ATTAGCAACCGTTACTTGGACTTCAGCAATGATGAAATTAAAGAGTAAGTACTTATTTTATAAGTCACTGAATATTAATTGGTGGATTAGTGGGTAGGAAGTGGGATGGGATCCAAGAGAAAGAAATCCTGGAATATTTCCAAGCAATATCAACTTTTGCCCTGTGAAGATCTGAGAATTGTTATAAAAACCTTAAACAAAAAGGTACAAACCTAAAATTTTATTAGTACAAAGTAATCAAGGCTGATGTTACAGTGGATTCTGAGTAAGTTTAAGCTTAAGATAGTAAGACAGCTAAGCGGATAGTGATCAGCTGACGTATATTACTCTCCTCTTCAGGAAAGTGCAGCACAGAAAACACTCGATTGTGGAATAATTTAGACACTGTGTGAAATACAACACAAAAGCTCTAAAGGAAATACATTTTCATGTCTCAAAGCAAAACGTTTATTTTGAATGCAAGATGAAAAGCAGATAAGATGCTGGTTGAGAGATTCCTA
Associated Phenotype:
Not determined