gtf2e2

Ensembl ID:
ENSDARG00000012672
ZFIN ID:
ZDB-GENE-030131-6794
Description:
general transcription factor IIE, polypeptide 2, beta [Source:RefSeq peptide;Acc:NP_997896]
Human Orthologue:
GTF2E2
Human Description:
general transcription factor IIE, polypeptide 2, beta 34kDa [Source:HGNC Symbol;Acc:4651]
Mouse Orthologue:
Gtf2e2
Mouse Description:
general transcription factor II E, polypeptide 2 (beta subunit) Gene [Source:MGI Symbol;Acc:MGI:1915

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa32665 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa32665
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2017.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000016488 Essential Splice Site 182 291 5 8

The following transcripts of ENSDARG00000012672 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 21643785)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 22178952
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACTGGATGATGTTGAAGAGGGGCTACCCAATGCAGCCAAGGCTATTAAAG[T/C]AATACACCATCATGCTGTCACTCATTAGTAACAAAACAAAAAAAAACATT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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