LOC100004210

Ensembl ID:
ENSDARG00000089271
Human Orthologue:
KIAA2022
Human Description:
KIAA2022 [Source:HGNC Symbol;Acc:29433]
Mouse Orthologue:
C77370
Mouse Description:
expressed sequence C77370 Gene [Source:MGI Symbol;Acc:MGI:2148050]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa18487 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa18487
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
ENSDART00000128271 Nonsense 969 1044 2 2
Genomic Location:
Chromosome 5 (position 24798103)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGGGTAGTGCCGCTGACCTTAAAAAGCGAGGAGGTGCCTCAGGYGGAGGT[C/T]GAGGGAAGAAAGGAGCTGGTCGTGGTAGTGGTAAAGCACTGCCTAAACTT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/35keymt0