LOC565752

Ensembl ID:
ENSDARG00000061719
Human Orthologue:
KIAA1033
Human Description:
KIAA1033 [Source:HGNC Symbol;Acc:29174]
Mouse Orthologue:
A230046K03Rik
Mouse Description:
RIKEN cDNA A230046K03 gene Gene [Source:MGI Symbol;Acc:MGI:2441787]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa9419 Nonsense Available for shipment Available now
sa19367 Nonsense Mutation detected in F1 DNA During 2014
sa9034 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa9419
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000088315 Nonsense 420 1173 14 33
ENSDART00000088315 Nonsense 420 1173 14 33
Genomic Location:
Chromosome 25 (position 29611995)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTCCTACTACATATTTGTAACCTCCTGGATGATGAAGATGGAGTCGATAT[T/A]ATCAAAAGAACCAAAACCAGACAARCTGTCYGAGGATTTGAGCAACAGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19367
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
ENSDART00000088315 Nonsense 420 1173 14 33
ENSDART00000088315 Nonsense 420 1173 14 33
Genomic Location:
Chromosome 25 (position 29611995)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTCCTACTACATATTTGTAACCTCCTGGATGATGAAGATGGAGTCGATAT[T/A]ATCAAAAGAACCAAAACCAGACAAGCTGTCCGAGGATTTGAGCAACAGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9034
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000088315 Nonsense 879 1173 25 33
Genomic Location:
Chromosome 25 (position 29600205)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCAAATCCAGAYTCATCAAAGACATCCGATTCTTCAGGGAAACCAAGGAT[C/T]AAACCGACCAAAAGGTAGGTTGGTCTCCATTTGCGTCTTATTATTTGGTA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/ujp4drpm