ZMP

rpgrb

Ensembl ID:

ENSDARG00000057074

ZFIN IDs:

ZDB-GENE-081015-2, ZDB-GENE-081015-2

Description:

Retinitis pigmentosa GTPase regulator protein 2 ORF15 [Source:UniProtKB/TrEMBL;Acc:D2X899]

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 are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa21936	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa21936

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC

Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000088624	Nonsense	33	1413	2	14
ENSDART00000124471	Nonsense	33	708	2	17

Genomic Location (Zv9):

Chromosome 11 (position 30648420)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	29524406
GRCz11	11	29771580

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CACTTTTGGAAAGAGTAAATTTGCAGACAACGCCCCTAGTAAATTCTGGT[T/A]AAAAAATGATGTACCTTTGCGAATTTCCTGTGGAGATGAGCACACAGCAC

Long Flanking Sequence:

TATCTGTTTATAATTAGCCGTCAAGCTATAACGGTGCTACACAGCGAGGAGCATATGTTAGGATGTAAACATTGGTTAACTGCGTTCATATCATAAAAATATTGTCATTTATATGATTTAAAAGTTTTAATTGCAGCTTGTGTGTTGTATTTTGTCGCCGAACACTCTGTCCCGCTTTATTCCATTGACGCTTGTGGCTACCTGTCGTCAAGGCAACCACACCATGTGGTCACGCCTCTGGTTTACTGTATAATATTTTATAAACAATTAATTTGAGCTATCTGATTATGCATATGTACGGTAACGTCAGCTTAATATTGTACTAATTATTATTCATTTACAACATAGCATAACATTGCATTGTCATAGCTTTTTTGACAATCACAAACCTGAATAACATTCTCTGTTGCTCTGTATTTCTGTTTTTGTTTTAGAGTCCGGAGCTGTCTTCACTTTTGGAAAGAGTAAATTTGCAGACAACGCCCCTAGTAAATTCTGGT[T/A]AAAAAATGATGTACCTTTGCGAATTTCCTGTGGAGATGAGCACACAGCACTAGTCACAGGTATGGTTTATGATTTTACTGGTGAATATTTTGTCTTGGTGCATAATTTTACTGTATGTGTTTATCTTGTCACTATCCCTGTTGTGTTTTTTTTTAGAGAATGGGAAGCTGTTTATGTTTGGCAGCAATAACTGGGGACAGCTGGGCCTCGGAACAAAGACCACTGTGAATAAACCCACTTGTGTAAAAGGTACAACACTACATGACAGACTGTCAAAGTGAGAGCACTGAGTGTTCCCTGCCTTTCACAGCTGATAAATGACAGCTAATACCATTGACAATGCTGTGACAAAAAGGAGGTCTTTTTTAAGGTTGCTGTTAATCCCAGTGTGGAGTGGTCCATAATCTGCATTAATCTGGTTAGAGCAGGGGAAGTAGTGTGTGTGCCTTTAGAATACAATATTTCAGCATTTTTACAAATAAGATTGTTAAATATAAAAA

Associated Phenotype:

Not determined