LOC100001051

Ensembl ID:
ENSDARG00000091783

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa20038 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa20038
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:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127524 Essential Splice Site 266 357 11 17
Genomic Location:
Chromosome 3 (position 31145611)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGGAGCTACATATGGAGGATTACCAACCCTTGGGCCAGACGCTGGTTTGG[G/T]TATGTGCATCGCATGTGTTTGTTATTCAAATGCAATATGCAAATCCCAGC
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/hra7ndta