ENSDARG00000077221

Ensembl ID:
ENSDARG00000077221

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa10492 Essential Splice Site Available for shipment Available now
sa10424 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa10492
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113791 Essential Splice Site 322 409 2 4
ENSDART00000113791 Essential Splice Site 322 409 2 4
Genomic Location:
Chromosome 20 (position 47414013)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTRCAAAGTCTAGATACAGTGAGAGATGACAACGCTRTGAAATCTGATAA[G/C]TCAGAGAAAAWWTTTTTTGTCTGTCATAATGCCAAATCACYATCTGACAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10424
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113791 Essential Splice Site 322 409 2 4
ENSDART00000113791 Essential Splice Site 322 409 2 4
Genomic Location:
Chromosome 20 (position 47414013)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTRCAAAGTCTAGATACAGTGAGAGATGACAACGCTRTGAAATCTGATAA[G/C]TCAGAGAAAAWWTTTTTTGTCTGTCATAATGCCAAATCACYATCTGACAG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/260uhp7g