ENSDARG00000045403

Ensembl ID:
ENSDARG00000045403

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa12000 Nonsense Available for shipment Available now
sa13343 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa12000
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066767 Nonsense 216 289 4 5
Genomic Location:
Chromosome 2 (position 51371)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GACCTGAAGCTCATCAGCGGCTCCSACACACACCGCAGCMGACAGACATC[G/T]GAGACTTCATCACTGAGGTCAAACACACACCAAACACTGATGMTGCTCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13343
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
ENSDART00000066767 Nonsense 269 289 5 5
Genomic Location:
Chromosome 2 (position 51054)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATCAGCTCCATCAACTCCTCCAACACAGACGGGGACCAGGATTAYGATWA[T/A]CTGAGCGACTGGGGTCCGCGGTTCCGGAAACTAGCAGACATGTACAGCAG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/v1p1kdax