ZMP

ENSDARG00000036128

Ensembl ID:

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 3 alleles of this gene:

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

Mutation Details

Allele Name:

hu7873

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC

Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000052455	Nonsense	175	400	1	2

Genomic Location (Zv9):

Chromosome 19 (position 24243375)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	24172790
GRCz11	19	23757113

KASP Assay ID:

554-2381.1 (used for ordering genotyping assays)

KASP Sequence:

AAGTCAATSCAAAGCTGCAGCTGACCATCTCCGCRTYATGCAAGACAAAT[T/A]ATACGTGTGCAACGTTGTGTTTTNAACAGACATCTTCTCCCATTTAAATA

Long Flanking Sequence:

ATTGCTTCCGCTGGACGACAACACCACTGCTGACATCATCTTTGGAAAACTGGAGGATTTTTTTAAAAGCCATGGATTGCCCCTGGATAAAATAATCCTGACAGAGACAGATGGTGCACCTGCTATGACTGGAAAAAACAAGGGTCTGGTGAGCAGATTAAAGACTGTCGCTCCTAAAACTAACGCACTCCACTGTATCATCCATCAGAGCGTACTGTGTGCAAAGTTAAGTGGGGAGCTCAAAGAAGTGATGGAGAAAACGATGAAAATTATCAACCACATCAGAGGAACTTCAAGCACGCAGCACCGCCTATTCTGCAAATTTGTGCTTGAATCCCAGGCTTCTCATGATGACCTGTTACTCCACAATGACGTGCGCTGGCTTAGTAAGGGCAAAGCACTGGAGCGATTTGTTGAACTCTGTGCGCAAGTAGTGGATTTCTTAAAACAAAGTCAATCCAAAGCTGCAGCTGACCATCTCCGCGTCATGCAAGACAAAT[T/A]ATACGTGTGCAACGTTGTGTTTTTAACAGACATCTTCTCCCATTTAAATACACTTAATCTCCAGCTGCAAGGAAAAGGAAAATCAGTGGTGGATTTGGTGGAAAAACTTGATGCCTTTGGGAACAAACTCGAACTCTTCCAAGCAGATTTGTTGTCAGAGAGGCTGCTGCACTTTAACACACTGAAGACGGTGGGAGAAGGCAACGTAACAGACCAGATGAAGACATTCATCACACAATTAAAAGACAACTTTTCTGCTAGATTCGATGACTTTTTCATTTCCAGGGATGCCATTGAATTTGCTCGTGACCCATTCACCATCAGCCCAAACGGAGAATTCTCCATGAACGTGGTGAAAATGCTGCCATTAGACGAGGCGGCCATTCAGAGCCAGTTGGCTGAAATTCAGGCCGCAGGTGACATGAAGGCGGCTCTCCGTGGTGATGAAAGCCTGAGCGCATTTTGGGTATCTTGTCCCGAGACCTATGACACATTAAAAA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa18606

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000052455	Essential Splice Site	345	400	1	2

Genomic Location (Zv9):

Chromosome 19 (position 24242864)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	24172279
GRCz11	19	23756602

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TTTTGGGTATCTTGTCCCGAGACCTATGACACATTAAAAAYGCTGGCTAT[G/A]TATGTGCTCACCATGTTCGGTTSAACCTACACCTGNNNTGAGGCTGCATTCTC

Long Flanking Sequence:

AACGTTGTGTTTTTAACAGACATCTTCTCCCATTTAAATACACTTAATCTCCAGCTGCAAGGAAAAGGAAAATCAGTGGTGGATTTGGTGGAAAAACTTGATGCCTTTGGGAACAAACTCGAACTCTTCCAAGCAGATTTGTTGTCAGAGAGGCTGCTGCACTTTAACACACTGAAGACGGTGGGAGAAGGCAACGTAACAGACCAGATGAAGACATTCATCACACAATTAAAAGACAACTTTTCTGCTAGATTCGATGACTTTTTCATTTCCAGGGATGCCATTGAATTTGCTCGTGACCCATTCACCATCAGCCCAAACGGAGAATTCTCCATGAACGTGGTGAAAATGCTGCCATTAGACGAGGCGGCCATTCAGAGCCAGTTGGCTGAAATTCAGGCCGCAGGTGACATGAAGGCGGCTCTCCGTGGTGATGAAAGCCTGAGCGCATTTTGGGTATCTTGTCCCGAGACCTATGACACATTAAAAACGCTGGCTAT[G/A]TATGTGCTCACCATGTTCGGTTGAACCTACACCTGTGAGGCTGCATTCTCCAAGATGAACTCGATAAAAACACACGAGAGGAACCGACTGTCAACCCAGTCTTTGGAGGACTGTTTGCACATAAGTCTGACAGCAGCTCAACCTGATGTGAAAAAGTTGGTGTCAGAGGGGAAATGTAACTTTAGCCATTGATTAAGCACTGTGAGTAGACCGTTTCAGAATTGTGGTTTGAATTCTAGCCCACTTAACGTTTCATTTGATGTGCGAACATTATTTGTGACCTGTTTTCATCTGGTACCAGGTTATTACCATGCTATTTTAAGTTATGCCAGATTGTTTTTTCTCTTTTTTTTAGTCTCGAGGAGTCTGCTAATTTCAAGTTTGTTGTTGAGACTTAGAAATAATAATAAAAAAAATGTTAAGTAAGGGCATGAGGAAAAGTTACGTCTATGCGTTTGTTTGTTTTTTTTTCAAATACCTGTTTAAAACAATAAATGCTT

Associated Phenotype:

Not determined