LOC557468

Ensembl ID:
ENSDARG00000075397
Human Orthologue:
KIAA1737
Human Description:
KIAA1737 [Source:HGNC Symbol;Acc:20365]
Mouse Orthologue:
2310044G17Rik
Mouse Description:
RIKEN cDNA 2310044G17 gene Gene [Source:MGI Symbol;Acc:MGI:1919185]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa19186 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa19186
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
ENSDART00000110133 Nonsense 300 365 3 3
Genomic Location:
Chromosome 17 (position 44927305)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATCGGTCAGGCCTGCTGGGCATCACAATGCGCACAAAGGAACTCATTCGA[C/T]AAAACAAACGCTCCCAGGCCCAACTTCAGAGTCTACAGGCTCAGACTGAT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/3xk4m3iy