hddc2

Ensembl ID:
ENSDARG00000034957
ZFIN ID:
ZDB-GENE-050522-394
Description:
HD domain-containing protein 2 [Source:UniProtKB/Swiss-Prot;Acc:Q1LUI2]
Human Orthologue:
HDDC2
Human Description:
HD domain containing 2 [Source:HGNC Symbol;Acc:21078]
Mouse Orthologue:
Hddc2
Mouse Description:
HD domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1916942]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa39301 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa39301
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000050729 Nonsense 150 200 5 6
Genomic Location (Zv9):
Chromosome 20 (position 39713422)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 39785078
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGATGATCATACAAGCTCATGAGTATGAGGAGTTAGAAGGGAAACCTGGA[C/T]GACTGCAGGAGTTCTTCGTCTCTACTGAAGGTTTGAGCTTTCACAGATAC
Associated Phenotype:
Not determined

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