LOC100333141

Ensembl ID:
ENSDARG00000053219
Human Orthologue:
PPIC
Human Description:
peptidylprolyl isomerase C (cyclophilin C) [Source:HGNC Symbol;Acc:9256]
Mouse Orthologue:
Ppic
Mouse Description:
peptidylprolyl isomerase C Gene [Source:MGI Symbol;Acc:MGI:97751]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa24822 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa24822
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000055579 Essential Splice Site 141 245 3 5
Genomic Location:
Chromosome Zv9_NA783 (position 21030)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGATTTCATGATCCAGGGAGGAGATTTCACTGCTGGAGACGGAACAGGGG[G/A]TGAGGATCATGATCTCCTGGATTTTGAAAATTAGTAATTATTTCCATAAT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

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* quick link - http://q.sanger.ac.uk/scio9c2r