epc2

Ensembl ID:
ENSDARG00000007485
ZFIN ID:
ZDB-GENE-040426-802
Description:
enhancer of polycomb homolog 2 [Source:RefSeq peptide;Acc:NP_957369]
Human Orthologue:
EPC2
Human Description:
enhancer of polycomb homolog 2 (Drosophila) [Source:HGNC Symbol;Acc:24543]
Mouse Orthologue:
Epc2
Mouse Description:
enhancer of polycomb homolog 2 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1278321]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa12299 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa12299
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000021672 Essential Splice Site 272 751 5 14

The following transcripts of ENSDARG00000007485 do not overlap with this mutation:

Genomic Location:
Chromosome 9 (position 26391475)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGAGCAAACGAGAGCTGCTGCATCTGACGCTGGAAGTCTTTGAAAAAAG[G/A]TGTGTGAACATTTCTATTTTTAAAGTTTCTTTTAAAAGAGTTTGTTGTTA
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/dcgrbav3