exoc3

Ensembl ID:
ENSDARG00000014582
ZFIN ID:
ZDB-GENE-030131-5947
Description:
exocyst complex component 3 [Source:RefSeq peptide;Acc:NP_997880]
Human Orthologue:
EXOC3
Human Description:
exocyst complex component 3 [Source:HGNC Symbol;Acc:30378]
Mouse Orthologue:
Exoc3
Mouse Description:
exocyst complex component 3 Gene [Source:MGI Symbol;Acc:MGI:2443972]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa19896 Essential Splice Site Mutation detected in F1 DNA During 2016
sa39943 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa19896
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 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000009347 Essential Splice Site 431 748 7 13

The following transcripts of ENSDARG00000014582 do not overlap with this mutation:

Genomic Location:
Chromosome 2 (position 50684107)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGCTTTAATCCCCCTACTTATACGAGTTCAACATGAGATCCTCCTCTTCA[G/A]ATGTTCGAGCAGAATCTTCAGGTCGCCGCTCAGATTAATGAGATCTTCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39943
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 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000009347 Essential Splice Site 501 748 8 13

The following transcripts of ENSDARG00000014582 do not overlap with this mutation:

Genomic Location:
Chromosome 2 (position 50681564)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGCTACGTTCAGTATATGATCGCCATCATCAACAACTGCCAGACCTTCAA[G/A]TGAGTTTCTCTTATCAGTTTTTGATTTATTAATTTTGAAGTCGAACATTA
Associated Phenotype:
Not determined

GWAS

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

  • Ulcerative colitis: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (View Study)

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

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