KIAA0467

Ensembl ID:
ENSDARG00000077753
Description:
KIAA0467 [Source:HGNC Symbol;Acc:29040]
Human Orthologue:
KIAA0467
Human Description:
KIAA0467 [Source:HGNC Symbol;Acc:29040]
Mouse Orthologue:
Szt2
Mouse Description:
seizure threshold 2 Gene [Source:MGI Symbol;Acc:MGI:3033336]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa9696 Nonsense Available for shipment Available now
sa9524 Nonsense Available for shipment Available now
sa12238 Nonsense Available for shipment Available now
sa25326 Nonsense Mutation detected in F1 DNA During 2014
sa3572 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa9696
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
ENSDART00000114701 Nonsense 409 3183 8 75
ENSDART00000114701 Nonsense 409 3183 8 75
Genomic Location:
Chromosome 6 (position 2272526)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTCCTTCTATCTGGTGCGTCTGATCTCTAAAACTCCCTGTATGGTGCTG[C/T]GATTGGGCTTCCCGATAGGGACTCTGGCTCACACCAGGAACAAGGTGAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9524
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
ENSDART00000114701 Nonsense 409 3183 8 75
ENSDART00000114701 Nonsense 409 3183 8 75
Genomic Location:
Chromosome 6 (position 2272526)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTCCTTCTATCTGGTGCGTCTGATCTCTAAAACTCCCTGTATGGTGCTG[C/T]GATTGGGCTTCCCGATAGGGACTCTGGCTCACACCAGGAACAAGGTGAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12238
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
ENSDART00000114701 Nonsense 550 3183 10 75
Genomic Location:
Chromosome 6 (position 2275542)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGGCRTCGCTCTCTCGATACTTCCTGCAYCAGCGCTGGGTTTGGGCCTTA[C/T]AGAACGGATCGGGAACYACCGTAWCSCTTTACGCTGTTGCTCGTATCCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25326
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:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114701 Nonsense 868 3183 19 75
Genomic Location:
Chromosome 6 (position 2283575)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAATGTGGATCTTGCGGATGAAGAGCCAGCTGGAGCGGAGCCGGGCGGTT[T/A]ATCTCCTCGCTGGAAATGTTACGCCAAATACATCAGCCATCAGCAGATCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3572
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:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114701 Essential Splice Site 2840 3183 69 75
Genomic Location:
Chromosome 6 (position 2407578)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TAAATATAAATAAATGAATAAAAAAACWAATTCAGCTCACTTTTTTAATA[T/A]GTGCACCAGGGAGTTTCTCGATATCGACAGGGATGATCACGGCTCATCAG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/kgkq3e2s