LOC100003530

Ensembl ID:
ENSDARG00000071651

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa10234 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa10234
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000106113 Essential Splice Site 199 241 3 3
Genomic Location:
Chromosome 22 (position 6247112)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAAATACTAGTTTAAGTMGAAATTCACTTTTAATAACAATGGTCTCCTTC[A/T]GRTCCTCCAGACTCWGGATCTCTGCTAGTGTTGATCTNNNNNNNNNCTGCTGCTGCTGY
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/yhsdzu58