ENSDARG00000071165

Ensembl ID:
ENSDARG00000071165
Human Orthologue:
VCL
Human Description:
vinculin [Source:HGNC Symbol;Acc:12665]
Mouse Orthologues:
Gm14025, Vcl
Mouse Descriptions:
predicted gene 14025 Gene [Source:MGI Symbol;Acc:MGI:3649276]
vinculin Gene [Source:MGI Symbol;Acc:MGI:98927]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa22380 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa22380
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:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105018 Essential Splice Site 513 652 4 7
Genomic Location:
Chromosome 13 (position 48826792)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAGACTGTTTCAACTTCATTCGAGACCCAAAGGAGAGGTCCAATCTGAGG[T/C]TTATTAATGACCACCTGACTTTTCAAATGTCAGACATTGTGAGTAGAGCC
Associated Phenotype:
Not determined

Register

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