chchd2

Ensembl ID:
ENSDARG00000059304
ZFIN ID:
ZDB-GENE-040426-1737
Description:
coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial [Source:RefSeq pepti
Human Orthologue:
CHCHD2
Human Description:
coiled-coil-helix-coiled-coil-helix domain containing 2 [Source:HGNC Symbol;Acc:21645]
Mouse Orthologue:
Chchd2
Mouse Description:
coiled-coil-helix-coiled-coil-helix domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1261428]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa35803 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa35803
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:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082388 Essential Splice Site 103 168 3 4
Genomic Location (Zv9):
Chromosome 15 (position 5669515)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 5787852
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTGATGAATTCTTGGAAACACCTAAACTTCTTCATCCTTGATGGTCTCTT[A/G]GGAGCCGTACCAGGGTCAGGCCATGTACCCGCCACAGCAGCAACAGCAGC
Associated Phenotype:
Not determined

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

Short-link