A8DZE3_DANRE

Ensembl ID:
ENSDARG00000029805
Description:
Novel protein [Source:UniProtKB/TrEMBL;Acc:A8DZE3]
Human Orthologue:
KIAA0355
Human Description:
KIAA0355 [Source:HGNC Symbol;Acc:29016]
Mouse Orthologue:
4931406P16Rik
Mouse Description:
RIKEN cDNA 4931406P16 gene Gene [Source:MGI Symbol;Acc:MGI:1924311]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa7380 Missense Mutation detected in F1 DNA During 2014
sa13262 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa7380
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 2014.
Mutation:
T > C
Consequence:
Missense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000049374 Missense 147 799 1 12
Genomic Location:
Chromosome 13 (position 51966671)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GACCAGCCGGCTCACCACAGCAATAAAGYCAGAGATCGGCAAAATGCTGA[T/C]GGAGCTCAGCGCAGGCGCGGCTAACTTCAAAGACCAGAAYGACTTCAGCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13262
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000049374 Nonsense 776 799 12 12
Genomic Location:
Chromosome 13 (position 51939532)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCGGAGATGCTGGGACACAAGCCTCCGCAGGGGCCGCGCAACAACACCTG[G/A]CCTAACCGAGAGCAGAGCGAGCAGAGCTTGTTTGGGGTGCWGGGAGACTC
Associated Phenotype:
Not determined

GWAS

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

  • Functional MRI: A genome-wide association study of amygdala activation in youths with and without bipolar disorder. (View Study)

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

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:

* quick link - http://q.sanger.ac.uk/08tkk8yj