ENSDARG00000090065

Ensembl ID:
ENSDARG00000090065
Human Orthologues:
AC011841.1, CTBP2
Human Descriptions:
C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA [Source:RefSeq DNA;Acc:NR_003682]
C-terminal binding protein 2 [Source:HGNC Symbol;Acc:2495]
Mouse Orthologue:
Ctbp2
Mouse Description:
C-terminal binding protein 2 Gene [Source:MGI Symbol;Acc:MGI:1201686]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa24824 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa24824
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:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000121903 Nonsense 179 182 3 3
Genomic Location:
Chromosome Zv9_NA988 (position 277)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACTGCAACCTGAACGAACACAACCACCACCTCATCAACGACTTCACCATC[A/T]AACAGGTGTGTGTGTGTGAGTGTGTGTCAGTGTCTGTGTGTTTGCACTGT
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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