arid2

Ensembl ID:
ENSDARG00000007413
ZFIN ID:
ZDB-GENE-030131-6311
Description:
AT-rich interactive domain-containing protein 2 [Source:RefSeq peptide;Acc:NP_001071231]
Human Orthologue:
ARID2
Human Description:
AT rich interactive domain 2 (ARID, RFX-like) [Source:HGNC Symbol;Acc:18037]
Mouse Orthologue:
Arid2
Mouse Description:
AT rich interactive domain 2 (ARID, RFX-like) Gene [Source:MGI Symbol;Acc:MGI:1924294]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa40197 Essential Splice Site Mutation detected in F1 DNA During 2016
sa20174 Nonsense Available for shipment Available now
sa6926 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa40197
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:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019144 Essential Splice Site 140 1565 5 21
ENSDART00000113360 Essential Splice Site 140 1573 5 21
Genomic Location (Zv9):
Chromosome 4 (position 1530165)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 1821797
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGCATGTACACATTGTGTGAATCTCTAAACCCCCTTTTCTTCTATTGGAC[A/G]GACTATCTCCGCCAAAGCTATGGGCTATCGACGGATTTTATCCCTCCATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20174
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019144 Nonsense 424 1565 10 21
ENSDART00000113360 Nonsense 424 1573 10 21
Genomic Location (Zv9):
Chromosome 4 (position 1520812)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 1812444
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGACGCTGCCGGACGTCATGCTGGTCATCTCTGCGCTGGAGGTCCTGTA[T/A]CAGCTGGCTGAGCTCGGAGAGATAACCTGCTCCAAAATCTCCTCCGTGGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6926
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019144 Nonsense 1381 1565 16 21
ENSDART00000113360 Nonsense 1382 1573 16 21
Genomic Location (Zv9):
Chromosome 4 (position 1515418)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 1807050
KASP Assay ID:
554-5063.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCCGCCCTCTCTCCAGAGCAAACRCGGAAACCTGGACAGAACTTTAAGTG[T/A]CTGTGGCAAGCATGCAAACGGTAAGAAAGCAYGCTTTACRGATGTWCTTC
Associated Phenotype:
Not determined

GWAS

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

  • Hippocampal atrophy: Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. (View Study)

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

Register

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