ZMP

LOC555750

Ensembl ID:

Human Orthologues:

GTF2I, GTF2IRD1, RP11-301J16.2

Human Descriptions:

GTF2I repeat domain containing 1 [Source:HGNC Symbol;Acc:4661]
Novel protein similar to general transcription factor II, i GTF2I [Source:UniProtKB/TrEMBL;Acc:Q5TBT
general transcription factor IIi [Source:HGNC Symbol;Acc:4659]

Mouse Orthologues:

Gtf2i, Gtf2ird1

Mouse Descriptions:

general transcription factor II I Gene [Source:MGI Symbol;Acc:MGI:1202722]
general transcription factor II I repeat domain-containing 1 Gene [Source:MGI Symbol;Acc:MGI:1861942

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa10970	Essential Splice Site	Available for shipment	Available now
sa14023	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa10970

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
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Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000074200	Essential Splice Site	311	973	5	26

Genomic Location (Zv9):

Chromosome 5 (position 61213856)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	58845983
GRCz11	5	59515692

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ACGCCCGCCGAGGAAAAAGCCGTTCAGGCCAAGGAATGTGCTGACAATGG[T/C]AAGAGYGTGTAGGTGCTGCACCATACGGATGTTGTCNKTTTTTWAATRTA

Long Flanking Sequence:

TGATGTTCCTAAGGTAGAACAGGTAGTGTACATGGGGGCTAATAATTATATATACACACACACACACACACACACACACACACACACACACACACACACACACACACAAACATTTACCACTATATTGGAGTTTTTTTTAGACATGCATCATAAATCAAGCACTTCATGAACAAAGCCCAACAAATGTGTTTACTTTTTAACAGAACGCCGGAGGAACCCTCACGGGAAGCCAAATCCTGTCCGGAAGTCAACCATCACTCTTCGACCTCAAAGAGCGCTAGCAACCACACCTCAGTCAAACCCTCAGTGCAGGAAGTATCCGCCAGCAACTCCATGCTCTCCAGCTTCCTGTACGGGATGCCCATGTCCTCCCAGCCTCACTCGGACAGCAAGCTGGACCTCAAGCCAACGTCACTGCACAGCATCGGCAAAGAGCGGCCGGGCATGTGGACGCCCGCCGAGGAAAAAGCCGTTCAGGCCAAGGAATGTGCTGACAATGG[T/C]AAGAGCGTGTAGGTGCTGCACCATACGGATGTTGTCTTTTTTTTAATGTACATTACTCTGAGCTTATATCTCGGACTGCGTGTCTTTTCCAGGCGAGCGAATAGGGCTGGCAGCAGATCTTACCCAGAGCCCTCCCAGCATCCATGTCTCCAAGCGCCTTCTGTTCTCCATAGTGCATGAAAAATCAGGTGGGCGACAGACTGTACTTACCATTACTGAGTCTGGCCAAGGACAAGCTGGCCTTCATTTCAGTTGGGTTTTATGAGGTCCTTAGCAGCGTGTCTAATAGAAAGAGTCAGTTTCCTCTTAAAATGGCTAGGCAAAGGATCTTTTCAGAGTACTCTATAAAGGGATAGGTCATCCTAAAGTAAAAGTTGCTTCATGATTTGTTCAGCTCTGTTCATTTATAGTTTCAGCAGAGCACAAAACTGATTTTTGAACAATCTTAAAGGGTTAGATCACCCTAAAGTGTATATCTTGTCAGCAACCATTGATAGTAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa14023

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:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000074200	Essential Splice Site	553	973	13	26

Genomic Location (Zv9):

Chromosome 5 (position 61228441)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	58860568
GRCz11	5	59530277

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GCTGAGCGAGTGACCCCTGACCTCTGTCGTCCCAAGGAGCCTGTCGCAGG[T/C]AACAWCAAACTAGCTTATATCCGAACRTACKTCCTTATCCATCTTTTCTT

Long Flanking Sequence:

TATTGAGCAAAATCTGTAAATACTGATGTACATGTAATTTTTTTAGGCTTTTTATTTGTAATAAATTTGCAACTATTTAAAAAAATATTTTTTTCACATTGTCATTATGGGGTATTGTGTGTAGAATTTTTGAGGAAATAAATGAATTTATTCCATTTTGGAATAAGGCTGTAACATGAAAAAATGTGGAAAAAGTGAAGTGCAATGAATACTTTGTAATACGTTGTATTAATATTAACCAGTATTATTTGTTTTGCTGTATTTTTGATATAATAAATAAAGCACTGTTGAGCCTAACAGATTTTTTTCCACTTGCCTCATATTGGATTATTCCTAAATGCGTTATATATGACATTATATCATTAACCGAATGCTTTTTGAACACATTATCTCTTTTTTCCCGATCTGTCAGAATCCAGTGCTTCAACAGAGGAATCCAGTGAGCCTCAGGCTGAGCGAGTGACCCCTGACCTCTGTCGTCCCAAGGAGCCTGTCGCAGG[T/C]AACATCAAACTAGCTTATATCCGAACGTACTTCCTTATCCATCTTTTCTTCTCCCTGTGGTACTGCACAGATAATCCCAAGCATATGACAAATCAAAGCCTCTAATATAACCCTCTCCAATTTCTCATCCAGTTGCAAATCCCTCCACCGGTCTGTACCTGCCCTCCTACAAGCTATTAATGCCTGTTTAATAATCGTTATATATGCACATGTACATGTCTGTCTAACTAGCTGTCAAGTCCTTTCATGTAGAGACATTAATTTCAATGAGCTTATGCTCAACACAGGGATATTAAATGCTGATTTAGCCACTGCGCTGTGCGGAGAAATGAACTTCTGTGAAGATCGAAACAGCAGCATTTAATGTATAAGTCATAAAAACATAGGTTGAAGTATGGTAAGCCAAGAGTTTTGCATTTCTTATTTCATCTCCATTCCCAAAAACCCAAGACTTGCCCAAATAGTGGTCCCAGCCCAAGTCCGATACAGATCCAGCGTGA

Associated Phenotype:

Not determined