ENSDARG00000088121

Ensembl ID:
ENSDARG00000088121
Human Orthologues:
AC092718.1, PKDREJ
Human Description:
polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea ur
Mouse Orthologues:
Pkd1l2, Pkd1l3, Pkdrej
Mouse Descriptions:
polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-li
polycystic kidney disease 1 like 2 Gene [Source:MGI Symbol;Acc:MGI:2664668]
polycystic kidney disease 1 like 3 Gene [Source:MGI Symbol;Acc:MGI:2664670]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa21132 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa21132
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000124969 Nonsense 63 702 2 15
Genomic Location:
Chromosome 7 (position 69159320)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGTTGATGTTTGTTGTCTTTCTCAGAGCTCTGTGATGGACACCAGGTTTG[C/A]ACGGCTGATGTTTCGTCTTTCGGAGAACCGTGTCCTGCGCTAGGAAGCTA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/7b8uan24