ENSDARG00000036128

Ensembl ID:
ENSDARG00000036128
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 are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
hu7873 Nonsense Available for shipment Available now
sa18606 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
hu7873
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
ENSDART00000052455 Nonsense 175 400 1 2
Genomic Location:
Chromosome 19 (position 24243375)
KASP Assay ID:
554-2381.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGTCAATSCAAAGCTGCAGCTGACCATCTCCGCRTYATGCAAGACAAAT[T/A]ATACGTGTGCAACGTTGTGTTTTNAACAGACATCTTCTCCCATTTAAATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18606
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052455 Essential Splice Site 345 400 1 2
Genomic Location:
Chromosome 19 (position 24242864)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTTGGGTATCTTGTCCCGAGACCTATGACACATTAAAAAYGCTGGCTAT[G/A]TATGTGCTCACCATGTTCGGTTSAACCTACACCTGNNNTGAGGCTGCATTCTC
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/9k4wbiij