ZMP
rpgra
Ensembl ID:
ZFIN ID:
Description:
Retinitis pigmentosa GTPase regulator protein 1 [Source:UniProtKB/TrEMBL;Acc:D2X898]
Human Orthologue:
RPGR
Human Description:
retinitis pigmentosa GTPase regulator [Source:HGNC Symbol;Acc:10295]
Mouse Orthologue:
Rpgr
Mouse Description:
retinitis pigmentosa GTPase regulator Gene [Source:MGI Symbol;Acc:MGI:1344037]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa14986 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14986
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000079095 | Nonsense | 749 | 1698 | 13 | 13 |
| ENSDART00000131781 | None | None | 367 | None | 9 |
Genomic Location (Zv9):
Chromosome 9 (position 31318896)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 30474842 |
| GRCz11 | 9 | 30285588 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CKCAAAGCGACATTGAGCCTTCAATTGAAACACTGATCAACACACAGGAA[C/T]AGCGGAACTTAACACCAGTCAAAATTACAGCCGAAATGCAAAGCACCCTA
Long Flanking Sequence:
CACTGCAAAGCAAAGTGCAACCCAAAATAGTCAAAACAACTATCCAGAGTACAAATAATAGATATAAAGGTAAAAAAATAGAAGTCAAATCATCTCCAGATGGAATATCAGCAAAAGAACTTAGTAAAACTTGGAGTACAAATATTGATTTAAAGGAAACTGTTGCAAAAGCAGACAGATATAGTAAAGATTCCAGAGGTGAAGAGGTTATTACTCTTTCTGATACAGAGCAAGAGACCAAGTCAAGTTCAATTAAAATTCCACTGACAAGTTCTTCAGTTCAGGAAGTTGAAAAAGTAAGAACAACACCAACAAGCACTCAAGAGGTCCAATCTCCTATAAGCAAAGAGGCTGGTATTCCAGAAAAAGCCTCAAAAAGGGTCAATTCACCGATCAAGGTTCAAGAAATGCCCACCGGTGAGATGGAAGTTAGTAAAGTTAAACCAACGCCTCAAAGCGACATTGAGCCTTCAATTGAAACACTGATCAACACACAGGAA[C/T]AGCGGAACTTAACACCAGTCAAAATTACAGCCGAAATGCAAAGCACCCTAAAAAAAGGAAATGAAAAGATGGATGTTAACACCCCTAGTGATCATACAGCAAAGAAAGCAAAAAACAAGAGAACCGCTGTTGAAAGAGGCCCAATCGCAGAACTATCACCCCAAACACCCAGCCCTCTATCAGTTTCAACACAAAAGTCCAAAGTGGAGCCTGAAAACTCAAGTTTGCAGCTTAGATCTGCAATGCAAACACAAGAAGCAACAGAAAAAGGGGAAACGAACAGTAATTCACCTCAGAGCTCAGAGAATAGATCATTTCCCACAATAAAGAGCAAAAAATCAGATGCAGAAAAAAGCCAATCCGCTTCTACCCTGCAGTCTGACCAGAAAAATAGCCAGTCATCCACCAACAAAGCACTTGCGGAACAGAAACATAAATTTCCTTCTATTAAAAGCTTAGCTCCAGAGAGAAGCCACTCAGTTTCCAATTTATGGTCCAAT
Associated Phenotype:
Not determined