cct2

Ensembl ID:
ENSDARG00000041754
ZFIN ID:
ZDB-GENE-020419-6
Description:
T-complex protein 1 subunit beta [Source:RefSeq peptide;Acc:NP_958863]
Human Orthologue:
CCT2
Human Description:
chaperonin containing TCP1, subunit 2 (beta) [Source:HGNC Symbol;Acc:1615]
Mouse Orthologue:
Cct2
Mouse Description:
chaperonin containing Tcp1, subunit 2 (beta) Gene [Source:MGI Symbol;Acc:MGI:107186]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa28348 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa28348
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
ENSDART00000056583 Essential Splice Site 94 303 4 9
Genomic Location (Zv9):
Chromosome 14 (position 37907182)
Other Location(s):
Assembly Chromosome Position
GRCz10 KN149830.1 1385
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGATTGATCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCCTCC[T/C]GCAGGTGGGGAAATCACCTCCACCTTTGACCACCCGGAGCTGGTGAAGCT
Associated Phenotype:
Not determined

GWAS

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

  • Height: Many sequence variants affecting diversity of adult human height. (View Study)

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

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