ENSDARG00000073679

Ensembl ID:
ENSDARG00000073679
Human Orthologues:
FNDC3A, FNDC3B
Human Descriptions:
fibronectin type III domain containing 3A [Source:HGNC Symbol;Acc:20296]
fibronectin type III domain containing 3B [Source:HGNC Symbol;Acc:24670]
Mouse Orthologues:
Fnd3c2, Fndc3a, Fndc3b, Fndc3c1
Mouse Descriptions:
fibronectin type III domain containing 3A Gene [Source:MGI Symbol;Acc:MGI:1196463]
fibronectin type III domain containing 3B Gene [Source:MGI Symbol;Acc:MGI:1919257]
fibronectin type III domain containing 3C1 Gene [Source:MGI Symbol;Acc:MGI:2685630]
fibronectin type III domain containing 3C2 Gene [Source:MGI Symbol;Acc:MGI:2685621]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa39961 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa39961
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 2017.
Mutation:
A > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112354 Essential Splice Site 74 373 2 4
Genomic Location (Zv9):
Chromosome 2 (position 59557199)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 58712224
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACTCTCGTGTGTATCTCC[A/C]GCTTTACCCAGATCTCCGGGGACCCCCATTGTCACAGAAACGACCCCCAC
Associated Phenotype:
Not determined

GWAS

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

  • Corneal structure: Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. (View Study)

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

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