PDPR

Ensembl ID:
ENSDARG00000023113
Description:
pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:30264]
Human Orthologues:
AC009053.1, PDPR
Human Descriptions:
pyruvate dehydrogenase phosphatase regulatory subunit pseudogene (LOC283922), non-coding RNA [Source
pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:30264]
Mouse Orthologue:
Pdpr
Mouse Description:
pyruvate dehydrogenase phosphatase regulatory subunit Gene [Source:MGI Symbol;Acc:MGI:2442188]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa23394 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa23394
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 2017.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000037042 Essential Splice Site 691 885 15 17
Genomic Location (Zv9):
Chromosome 18 (position 49804955)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 50960884
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCATGACACACACAGGAGAGCCGGGGTTCATGCTGTATATTCCCATTGAG[G/A]TCAGTCACACACTCACACCTGCAGCATCACCTGCTGATCTAGATCATCAT
Associated Phenotype:
Not determined

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