LOC100002840

Ensembl ID:
ENSDARG00000090839

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa42300 Essential Splice Site Mutation detected in F1 DNA During 2016
sa13056 Splice Site, Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa42300
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 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000122964 Essential Splice Site 107 264 2 4
Genomic Location:
Chromosome 13 (position 48788023)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGCTGTGAAAACGGTCTTCCTAAAGTCTAACAATACACTGTCCAGGGCAG[G/A]TAACTACCATTGATAGATTTATAATGAAAAGGAAATTAAATATTTTTAAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13056
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000122964 Splice Site, Nonsense 198 264 3 4
Genomic Location:
Chromosome 13 (position 48790222)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACCTGTGAGATTGAACACTTGAGCATTGATGGGAAACTGAGGAAAAACTA[T/A]RGTAAGCTGCAAAAATAATTYGGTAACACTTTACAATAAGGTTCATTAGT
Associated Phenotype:
Not determined

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