arnt

Ensembl ID:
ENSDARG00000021855
ZFIN ID:
ZDB-GENE-060126-7
Description:
aryl hydrocarbon receptor nuclear translocator isoform a [Source:RefSeq peptide;Acc:NP_001007790]
Human Orthologue:
ARNT
Human Description:
aryl hydrocarbon receptor nuclear translocator [Source:HGNC Symbol;Acc:700]
Mouse Orthologue:
Arnt
Mouse Description:
aryl hydrocarbon receptor nuclear translocator Gene [Source:MGI Symbol;Acc:MGI:88071]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa36026 Essential Splice Site Mutation detected in F1 DNA During 2016
sa16681 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa36026
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 2016.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029485 Essential Splice Site 36 503 2 15
ENSDART00000081852 Essential Splice Site 36 728 2 20
ENSDART00000121648 Essential Splice Site 36 746 2 21
ENSDART00000123253 Essential Splice Site 36 404 2 12
ENSDART00000127554 Essential Splice Site 36 440 2 13
Genomic Location (Zv9):
Chromosome 16 (position 5551792)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 4778345
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATGGATCTCATTCCAACGGTGTGCAAAAAGCCAACAAACGGCAAGCCACG[T/G]AAGTCTGAAGTGTGAACACTCAGCGTCTCATTAATCCTGCTGAAACACTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16681
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029485   483 503 15 15
ENSDART00000081852 Essential Splice Site 517 728 None 20
ENSDART00000121648 Essential Splice Site 517 746 None 21
ENSDART00000123253   None 404 None 12
ENSDART00000127554   None 440 None 13
Genomic Location (Zv9):
Chromosome 16 (position 5520325)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 4746878
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTCTTTCAGGTTTCAGTGCAGACCTGTGGTGTAGTCAGTGCTGAKCACAG[T/C]AAGACTCCTCTCTCACACATATGCATACACTCACTGAAGACAACCCTCAT
Associated Phenotype:
Not determined

GWAS

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

  • Melanoma: Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. (View Study)
  • Urate levels: Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (View Study)

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

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