ENSDARG00000088867

Ensembl ID:
ENSDARG00000088867

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa8840 Nonsense Mutation detected in F1 DNA During 2014
sa7808 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa8840
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:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127065 Nonsense 69 450 1 4
Genomic Location:
Chromosome 16 (position 45248378)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCTCAAACCTRACTGTTCTGAAGCTGYGSCATGTTCCTGTGAAACCTGCT[G/T]AGAAGCAGAAGTTNNCTGATGGTCATGGACTGCCAAAACGTYGMGGAGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7808
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127065 Nonsense 307 450 2 4
Genomic Location:
Chromosome 16 (position 45249161)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AACTGCCTRTKCTGGAGTCAAAGTRTGTTCCTGTGAARCCTGTCAGTGGA[C/T]AGAAATTCACTGATGGACCTCCAGAGCATCAGATGAAAGTTTCACTRAAA
Associated Phenotype:
Not determined

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/8ewf9o34