C10orf90

Ensembl ID:
ENSDARG00000089024
Description:
chromosome 10 open reading frame 90 [Source:HGNC Symbol;Acc:26563]
Human Orthologue:
C10orf90
Human Description:
chromosome 10 open reading frame 90 [Source:HGNC Symbol;Acc:26563]
Mouse Orthologue:
D7Ertd443e
Mouse Description:
DNA segment, Chr 7, ERATO Doi 443, expressed Gene [Source:MGI Symbol;Acc:MGI:1196431]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa10450 Nonsense Available for shipment Available now
sa35373 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa10450
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000126327 Nonsense 180 714 1 11
Genomic Location:
Chromosome 12 (position 45515100)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGCTGCCCAKACAAAGACATGTGATTCTGACRGACGTMCCCAACAAYCGA[C/T]ARGACAACAGCAGGGGTCAGCAGGTGAGAAAGTGCAAAAGAGACTAATTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35373
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 2016.
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000126327 Essential Splice Site 640 714 9 11
Genomic Location:
Chromosome 12 (position 45477667)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTTCTGCA[G/T]AAAGCCTTTTGAAATCTAAAGACAGAAGCATCATGGAAAAGGGGCCACAG
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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