ENSDARG00000073777

Ensembl ID:
ENSDARG00000073777
Human Orthologue:
ANKFN1
Human Description:
ankyrin-repeat and fibronectin type III domain containing 1 [Source:HGNC Symbol;Acc:26766]
Mouse Orthologue:
Ankfn1
Mouse Description:
ankyrin-repeat and fibronectin type III domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:2686021]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa17641 Nonsense Available for shipment Available now
sa13151 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa17641
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111366 Nonsense 281 413 6 9
Genomic Location:
Chromosome 24 (position 40512378)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATCTGTCTCTTGTTTCAGGGCACAGGCTGTTATGTCCAGGTCTCAGCATA[T/G]AATATGAAGGGATGGAGTTCACCTCAGATATCAGAACCTGCTTGTGCTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13151
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111366 Essential Splice Site 301 413 6 9
Genomic Location:
Chromosome 24 (position 40512438)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGATGGAGTTCACCTCAGATATCAGAACCTGCTTGTGCTACACCCTCCAG[T/C]GAGTTACACRCACACATAAACACATRTTGGTTWTGGTGGTTTATGAGGAC
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/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/7wu6szty