LOC100005283

Ensembl ID:
ENSDARG00000075757

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa18295 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa18295
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
ENSDART00000110792 Nonsense 156 594 2 3
Genomic Location:
Chromosome 21 (position 21803332)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTGGCATGGTCACCAGCGGCCTTGAGGAAGATTGTGTTTGGGATCCARAA[C/T]GAATCACARTYATTGATATAATTCCTCCAAGCCYTCAAAACATTTCCAAA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/8vq1clgx