ENSDARG00000074684

Ensembl ID:
ENSDARG00000074684

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa15633 Nonsense Available for shipment Available now
sa22546 Essential Splice Site Mutation detected in F1 DNA During 2014
sa22545 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa15633
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
ENSDART00000097827 Nonsense 117 549 3 15
Genomic Location:
Chromosome 14 (position 49105978)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTGCGACACACAAYGCCTTATAATGGGGCTGAAATCTACTGCGCAAGGGT[T/A]ACAGGTAGGACTCTCTTTTACTATTTAGGTGGTGACAGTTCACCMGAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22546
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 > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000097827 Essential Splice Site 211 549 6 15
Genomic Location:
Chromosome 14 (position 49102916)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAAACTGCTCCTTCAGAACCAGAGTGGGCCTTTTTTCTACTTGTCCAAGG[T/G]CAGATCATTTTACTTGCTTAGAATTTCAACAGGTGTGATCATCGACCACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22545
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 > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000097827 Essential Splice Site 454 549 13 15
Genomic Location:
Chromosome 14 (position 49096350)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCTGGGGAAGGTTGAGGATTCAGCAACAGCAGAGATATCCAGATCTCAGG[T/G]CAGTTATTAACAGTTCAGATAAAGTGAAAATGATTAGAAAATGTAATTCT
Associated Phenotype:
Not determined

Register

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