LOC100004992

Ensembl ID:
ENSDARG00000089503

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa10359 Nonsense Available for shipment Available now
sa23433 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa10359
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
ENSDART00000128358 Nonsense 76 518 1 1
Genomic Location:
Chromosome 19 (position 7544236)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAAACTTTTATTTGTTCAGAGTGTRGAAAGAGTTTTACACAAATGCGGTA[T/A]CTWAAAAATCACATGAAGATTCACTCCGGAGATCACCCCTTCACTTGTCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23433
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
ENSDART00000128358 Nonsense 268 518 1 1
Genomic Location:
Chromosome 19 (position 7544811)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCACACTGGAGAAAAGCCTTTCTCCTGCCAACAGTGTGGAAAAAGTTTTT[C/A]AGAGAACAAGAAACTTACAAGTCACATGAGAATTCACACTGGAGAAAAGC
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/75k61eqc