eef2b

Ensembl ID:
ENSDARG00000003016
ZFIN ID:
ZDB-GENE-030131-5128
Description:
eukaryotic translation elongation factor 2b [Source:RefSeq peptide;Acc:NP_956752]
Human Orthologue:
EEF2
Human Description:
eukaryotic translation elongation factor 2 [Source:HGNC Symbol;Acc:3214]
Mouse Orthologue:
Eef2
Mouse Description:
eukaryotic translation elongation factor 2 Gene [Source:MGI Symbol;Acc:MGI:95288]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa3409 Nonsense Mutation detected in F1 DNA During 2014
sa19909 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa3409
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 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023931 Nonsense 92 858 3 13
Genomic Location:
Chromosome 2 (position 56954692)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCCATGTACTACGAGCTGACGGAGAATGACTTGGCCTTCATTAAGCAGTG[T/A]AAGGATGGATCTGGTTTCCTCATTAACCTGATCGACTCTCCTGGCCACGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19909
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023931 Essential Splice Site 689 858 10 13
Genomic Location:
Chromosome 2 (position 56967581)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGAGATCAAGGACAGCGTCGTGGCTGGATTCCAGTGGGCCACAAAAGAGG[T/C]GAGGAGGAGATTGGAGTTATTTTATTTTCTACTTTTTGACTGACTGATGT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/8benxw4b