epc1

Ensembl ID:
ENSDARG00000025241
ZFIN ID:
ZDB-GENE-070629-5
Human Orthologue:
EPC1
Human Description:
enhancer of polycomb homolog 1 (Drosophila) [Source:HGNC Symbol;Acc:19876]
Mouse Orthologue:
Epc1
Mouse Description:
enhancer of polycomb homolog 1 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1278322]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa38904 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa38904
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
ENSDART00000033072 Essential Splice Site 404 796 8 14
Genomic Location (Zv9):
Chromosome 12 (position 43382576)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 40963764
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGATGGAGCGTTTGCCTTCAGGCGGAAAGCAGGATGTGTTTATCACGCT[G/A]TAGGTGTCCAGACCTGACCTCATATCTCATACCTTGTTCTTCCTCTGTTA
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/.)

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