MEF2A (2 of 2)

Ensembl ID:
ENSDARG00000057527
Description:
myocyte enhancer factor 2A [Source:HGNC Symbol;Acc:6993]
Human Orthologue:
MEF2A
Human Description:
myocyte enhancer factor 2A [Source:HGNC Symbol;Acc:6993]
Mouse Orthologue:
Mef2a
Mouse Description:
myocyte enhancer factor 2A Gene [Source:MGI Symbol;Acc:MGI:99532]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa20879 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa20879
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:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080190 Essential Splice Site 190 305 4 8
Genomic Location:
Chromosome 7 (position 16472944)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTCTCTGCCCTCCAACACCCTTCAGACCACCAATAGCACTGCTGGCATCG[G/T]TCAGTATGTAGTACAGTACATTATATTCAGATATTAGTAAATGCAATACT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/s5m55wix