FMN2 (2 of 2)

Ensembl ID:
ENSDARG00000023318
Description:
formin 2 [Source:HGNC Symbol;Acc:14074]
Human Orthologue:
FMN2
Human Description:
formin 2 [Source:HGNC Symbol;Acc:14074]
Mouse Orthologue:
Fmn2
Mouse Description:
formin 2 Gene [Source:MGI Symbol;Acc:MGI:1859252]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa7827 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa7827
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:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000037716 Essential Splice Site 125 247 5 7
Genomic Location:
Chromosome 17 (position 19606893)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGCAGTGTAGAAAACATCTYACTCCTGAGATCTCCATCTTCYTGTTTTAC[A/T]GGMTCTACAATCAGGCCAAGCTGTCCTGCAGATCCTAGGTTTGGYTCTAG
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/.)

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* quick link - http://q.sanger.ac.uk/k7wzoohf