Busch Lab

ZMP

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
sa35803 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa35803
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > G
Consequence:
Essential Splice Site
Transcripts:
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
GRCz11 15 5775703
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGATGAATTCTTGGAAACACCTAAACTTCTTCATCCTTGATGGTCTCTT[A/G]GGAGCCGTACCAGGGTCAGGCCATGTACCCGCCACAGCAGCAACAGCAGC
Long Flanking Sequence:
TTCCGGCATATGTTTTACGCAGCGGATGCCCTTCCAGCTGCAACCCAGTACTGGGAAACACCCATACATTCACACACACATACACTACAGCTAATTTAGTTTATTAATTTCACCTACAGCACTTGTCTTTGGACTGTGGGGGAAACCGGAACACTCAGAGGAAACCCATGCCAACACGGGGAGAACATGCAAACTCCACATAGAAATGCCAACTGGCCCAGACAGGACTTAAACCAGTGTTCTTCTTGCTGTGAGGCAACAGTACCAACCACTGAGCAACAGTGTTACCTATAATAAATTCCAACCCTAAAACTTCCAGAAATTTAAGATATAATGAAATATACATTGCTCAACAATTTTTACAATTATTATTGTATTCTATTAGTAATTATCTCAATATTTCGTCTAGTTGGGCTAGCTAAATAATTGTAGGAGTTTTTAAACAAGGCAGTGATGAATTCTTGGAAACACCTAAACTTCTTCATCCTTGATGGTCTCTT[A/G]GGAGCCGTACCAGGGTCAGGCCATGTACCCGCCACAGCAGCAACAGCAGCCCATGTACCAGCAGGATCCGCAGCAGCAGAACCCATGTTCATATGAGATGAAGCAGTTCATCGAGTGCGCTCAGTCTCAGAGCGACCTCAAACTCTGCGAGGGATTCAGCGAAGTGCTCAAACAGTGCAGATTCTCCAATGGTTCGTACTGTGAACTCGTTAACATGTGAAAAGTTGCCCTTATTTTTTCTTATTTATGGGTTATAAAGTTGTCCCCTTGTTGCAGCTTTATATAAATTATGTAGTGGATTTGTAGCAACATTATTATTTTTTTTTCCAAAAGTATTTTTATTGAACATATTAGATATGAAACATACATTACAAAATAGCTTTTCAATTTTTTTTTTTTTTTTTTACACAACAAACAAACAAAACCTGCCGCACATACATTTAGGGTCACATACATTTAGGGTCACGAAACACCAAAACACATTTTTTGAGCTGTTGACA
Associated Phenotype:
Not determined