ENSDARG00000043682

Ensembl ID:
ENSDARG00000043682

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa17135 Splice Site, Nonsense Available for shipment Available now
sa32573 Nonsense Mutation detected in F1 DNA During 2016
sa32574 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa17135
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:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000064142 Splice Site None 596 None 14
ENSDART00000102399 Nonsense 254 590 7 15
Genomic Location:
Chromosome 1 (position 637709)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCATCAATCAGGGTTTCTTTAAATGCAGRAAKGCTCATCTGAATTTAAAT[A/T]AGTGTATATGCAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32573
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000064142 Nonsense 168 596 7 14
ENSDART00000102399   257 590 7 15
Genomic Location:
Chromosome 1 (position 637720)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGTTTCTTTAAATGCAGGAATGCTCATCTGAATTTAAATAAGTGTATATG[C/T]AGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCCCACCGCTGCAGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32574
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:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000064142 Essential Splice Site 359 596 None 14
ENSDART00000102399 Essential Splice Site 378 590 None 15
Genomic Location:
Chromosome 1 (position 638943)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTC[A/G]GGTGTCCAGCGGCTCGAACACACTGACGGTGAATCCTGTGGTTCCTCTGA
Associated Phenotype:
Not determined

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