ENSDARG00000075510

Ensembl ID:
ENSDARG00000075510
Human Orthologues:
GTF2IRD2, GTF2IRD2B
Human Descriptions:
GTF2I repeat domain containing 2 [Source:HGNC Symbol;Acc:30775]
GTF2I repeat domain containing 2B [Source:HGNC Symbol;Acc:33125]
Mouse Orthologue:
Gtf2ird2
Mouse Description:
GTF2I repeat domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:2149780]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa9827 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa9827
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
ENSDART00000098919 Nonsense 176 594 2 2
Genomic Location:
Chromosome 22 (position 27348551)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGTATATGYCCAGCTGCAGGAGAAAGTGAAAGAATTTATTTATTTTGCTT[T/A]AGCTCTTGATGAGAGCAATGAMGTGCAGGACACGGCACWGCTGYTAATTT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/y9d5erl1