LOC100334106

Ensembl ID:
ENSDARG00000073822
Human Orthologue:
IQSEC1
Human Description:
IQ motif and Sec7 domain 1 [Source:HGNC Symbol;Acc:29112]
Mouse Orthologue:
Iqsec1
Mouse Description:
IQ motif and Sec7 domain 1 Gene [Source:MGI Symbol;Acc:MGI:1196356]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa25191 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa25191
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 > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092344 Essential Splice Site 766 942 10 13
Genomic Location:
Chromosome 23 (position 4719892)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAAGATACCATTTATTAATGTTTGTTATGATGTTCTCTCTCTTTTTTTCA[G/A]TTTATCCAAATGGCATCCGGCTGACGTCAGCCATTCCAGGTGCAGACTTC
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/tdqkil4v