rpgra

Ensembl ID:
ENSDARG00000056617
ZFIN ID:
ZDB-GENE-070912-423
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 Estimate
sa14986 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa14986
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
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:
Chromosome 9 (position 31318896)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CKCAAAGCGACATTGAGCCTTCAATTGAAACACTGATCAACACACAGGAA[C/T]AGCGGAACTTAACACCAGTCAAAATTACAGCCGAAATGCAAAGCACCCTA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/2ri9yvre