ENSDARG00000079994

Ensembl ID:
ENSDARG00000079994

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa16339 Essential Splice Site Available for shipment Available now
sa17891 Nonsense Available for shipment Available now
sa12723 Nonsense Available for shipment Available now
sa24619 Essential Splice Site Mutation detected in F1 DNA During 2014
sa17381 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa16339
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112789 Essential Splice Site 63 1666 2 21
Genomic Location:
Chromosome 25 (position 11542387)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCYAGCACACTRAAGATCAGCCATGTCACGCTGCAGGCCGTCTGTCCAGG[T/G]CAGAAAATATCAWTAACTGTATAGTTACAGTACAAAAATTGTATGTACAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17891
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112789 Nonsense 549 1666 6 21
Genomic Location:
Chromosome 25 (position 11577794)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGAGCCCCAGTTGCCTACACAATGCYYAGAGGGAACAGATGAAGCTAART[T/A]GACTTTAATTCAGGTAAATTCTGAAGTTAYTTTGTCTRTACKAAGCGAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12723
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112789 Nonsense 1193 1666 10 21
Genomic Location:
Chromosome 25 (position 11618283)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACAGGCTGAGGACAGCATTACCATCACCAGTGGCGTGTCCATGTCCTATT[C/A]GTCCTCCACAGATGACTCTTCCAGCTTGGGAACCMCTTGCGCCACCCCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24619
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:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112789 Essential Splice Site 1416 1666 14 21
Genomic Location:
Chromosome 25 (position 11629646)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTCACCAAATCTGTGTCCATGGTGGCCATCAGTCAGAAGGACCTGGACGG[T/C]GAGTTGAAATCATCTTCTCTGTTTTTCTGTCCTCCGTCTTGTTGTGTCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17381
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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112789 Essential Splice Site 1610 1666 20 21
Genomic Location:
Chromosome 25 (position 11646026)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACTGTTACAGATTCTGCCTCGACGCCTAGTGTCAYCCTCAGAAGTAAAAG[T/A]AAGTTTCCCTYATACTCATTTGATGTATTCTTCTCTATTTGCATGTKTYA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/a0ddvvg6