exoc6

Ensembl ID:
ENSDARG00000020521
ZFIN ID:
ZDB-GENE-040426-2511
Description:
exocyst complex component 6 [Source:RefSeq peptide;Acc:NP_998465]
Human Orthologue:
EXOC6
Human Description:
exocyst complex component 6 [Source:HGNC Symbol;Acc:23196]
Mouse Orthologue:
Exoc6
Mouse Description:
exocyst complex component 6 Gene [Source:MGI Symbol;Acc:MGI:1351611]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa3814 Nonsense Mutation detected in F1 DNA During 2015
sa30956 Essential Splice Site Mutation detected in F1 DNA During 2015

Mutation Details

Allele Name:
sa3814
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 2015.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022163 Nonsense 626 708 18 19
ENSDART00000125230 Nonsense 624 810 18 22
Genomic Location:
Chromosome 12 (position 9761686)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TACACTAAACTCAACCAGAAGATCGACGAGTTCATTCAGCTGGCGGATTA[T/A]GAATGGGGAATGGCGGAGTCGGATGGCAGGGCCAGCGGCTACCTCATGGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30956
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 2015.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022163 Essential Splice Site 659 708 18 19
ENSDART00000125230 Essential Splice Site 657 810 18 22
Genomic Location:
Chromosome 12 (position 9761585)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCTCATTAACTTCCTGCGCAGCACCTTCCAGGTCTTCACCCACCTTCCGG[T/A]AAGTTCCACACCATCCTATCCACCAGGAGTCAGTCTCGTCACGGATTTGT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/bfe1bmqj