ZMP

chchd1

Ensembl ID:

ENSDARG00000029100

ZFIN ID:

ZDB-GENE-060810-176

Description:

coiled-coil-helix-coiled-coil-helix domain-containing protein 1 [Source:RefSeq peptide;Acc:NP_00107

Human Orthologue:

CHCHD1

Human Description:

coiled-coil-helix-coiled-coil-helix domain containing 1 [Source:HGNC Symbol;Acc:23518]

Mouse Orthologue:

Chchd1

Mouse Description:

coiled-coil-helix-coiled-coil-helix domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:1913371]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa6294	Nonsense	Mutation detected in F1 DNA	Not yet available
sa28096	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa6294

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:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000100941	Nonsense	78	113	2	3

Genomic Location (Zv9):

Chromosome 13 (position 21911169)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	21640507
GRCz11	13	21770957

KASP Assay ID:

554-5325.1 (used for ordering genotyping assays)

KASP Sequence:

GACTTTAACAATGCATTCTGCCCTCAAGAAGTCACCGCTTTCTACACATG[T/A]GTCGAAAAGGTACTGCAGAYAGCAACTCACTSTCCTCRGGATATCCTCTT

Long Flanking Sequence:

TGGGGGAAACCAGAGCACCCGGGGGAAACCCACGCAAACGCAGGGAGAACATGCAAACTTCACACAGAAATGCCAACTGACCCGGCTGAGGCTCGAACCAGCAACCTTCTTGCCAACCTACTGCGCCATGAAACAGTTTATATCAAAGTAAAAGTTAATATTATTTTCATCTCAACACTGATGAGGTTTTAATTTGTAAAGGTGTGATATTTGTTTTTTTTATCATTTTTTAATGAGGGGTGGGGGTCTTGAATTCCAAGTATTGGAGTAATTCAATATATCAATGACTACTTTTTTTATTAAATTATTGTAAGTTTGACTGTTGCTTCTTATTTAGAAATATTGAAATGTTTTATTTTGTTAAACCCTTCATGGTGATACACTATCTTTGTTACAGAGGCCACGTGCGTTACAGAGATGTCATTGCTTATGGCTTGCTGGAAACAGAACGACTTTAACAATGCATTCTGCCCTCAAGAAGTCACCGCTTTCTACACATG[T/A]GTCGAAAAGGTACTGCAGATAGCAACTCACTCTCCTCGGGATATCCTCTTTTAAACAACCTGCTGACAAGCAGTTCAATGGCCATAATTAACATGATGTTGATGAATGCATAGGAATGAGCAATTAGCATGAACAACCAGCTAAATTTTCTCTGCCATTTCCTGGTTATGGCGAACAGACTTCCCAGTTTGCAGTGCTGTTTCCTGCTTGACATTTATTTTTGTTCATCTGTTGTTTCCGTGTTTACAGCATCCACACGCATCTAGCGGGATCATGTTTCTATTGCTATCTCCCTCTACAGAATAAGAGTGTTCGTTTAGTTCAAATGCTTATTTTACCTTGTATTGTGCTCTGATTGAGATTACCTGTAACCACAGAGACACATTTCCACTTTCACTTTACATTTCTTTTTGACATTTAAAAGTTTATGGGATGTATGTATGCAACTTTTCCTGATCTTTCAATCTAGTATTGCAAAAAATGCCTGCCATTTGCATATG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa28096

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:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000100941	Nonsense	105	113	3	3

Genomic Location (Zv9):

Chromosome 13 (position 21915691)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	21645029
GRCz11	13	21775479

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GAAGGAAGGCAGGTCGACTTTTGCCTGAGGAAGTCAACACCTTATTGAAA[C/T]GATTTCCCAACCAGGGAAGTCTGATCTAAAAGTGCAGTTTCATAGATTAA

Long Flanking Sequence:

CTTATTTTGTCTATCTTTAAGTAAAATAAAAATACATAACATTATGTTCCCAATCCAAATGAAAGAAATCGAATTACTCAAAATTTGAAAATATGCGCTTTTATGGTTCTTCGTCTCAAGGCCTCATGCCTCAGTTAGTTAACAGGAAATAAATACAGTTTGAGGGTTAACAACAGAAAAGAGGTGGTTTAGTTGTAGCTGTTTAAACACATCAGACCACATGAGTATTTTCGATACGAAAGCAATTAAAAATGTATTTTTAACTACCTCTAAAAGTGGATAAGTTTAAAAATGTTTGCCTCTGTATTTAGTGTTGCCTATGTCTTATCCAATCCAATTCAATTGTAAAGTGCATTTATTGGATATGAATTGTTACTAAAGAGCAGTGATTATTTTAATTTAACATTTTTTCTTAATTTCACATTCTACAGGCGAAGATGAGGAACCAAGGAAGGAAGGCAGGTCGACTTTTGCCTGAGGAAGTCAACACCTTATTGAAA[C/T]GATTTCCCAACCAGGGAAGTCTGATCTAAAAGTGCAGTTTCATAGATTAATCAAAGAAAGGACATTTTTATTATTTGAGCTCTGTTAATGGGGACTTTAGTCTGAGTGCACTGGGCCAGCCAATTGATGAGAAAGGGGTGTGGAAAGCTTTACTGAAAAACAGCAATGAAACTGTCACTGGGACTCAAACTCTGCCAAAAACACATCAGCAGGTGCACGCAAAGCAAATAAGCTGCATTAATAAGGGTTTGAAAGCTCTTTTGGAGATTGATACAATTTCCTGACTGCACTCCTGTAAGTCATTCCATTAAAACAGAACAAAGTATGAAAACTGGTTCTTTTGTTCACATAAATTGAGGGTCTACCAAGAATATACACTCACCGGCCACTTTATTAGGTATACCTTACTAGTACTAGGTTGGACCCCTTTTTTCTTCAGAACTACTTTAATACTTCATGGCATAAATTCAACAAGGTACTGGAAATATTTCTCAGACATT

Associated Phenotype:

Not determined