A0PJR1_DANRE

Ensembl ID:
ENSDARG00000062000
Description:
LOC100007078 protein [Source:UniProtKB/TrEMBL;Acc:A0PJR1]
Human Orthologue:
ABTB2
Human Description:
ankyrin repeat and BTB (POZ) domain containing 2 [Source:HGNC Symbol;Acc:23842]
Mouse Orthologue:
Abtb2
Mouse Description:
ankyrin repeat and BTB (POZ) domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:2139365]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa9010 Nonsense Mutation detected in F1 DNA During 2014
sa7531 Missense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa9010
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089113 Nonsense 450 1032 4 17
Genomic Location:
Chromosome 25 (position 25429410)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGTGATGATGTCAGACAGACAGCMCGACTACTCCTGCCTGGGCTKGACTG[T/A]GAGCCCAGACTGCTGAAGTAAGACAACCAACGARAAAAAGCTAGTCKGAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7531
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 > A
Consequence:
Missense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089113 Missense 975 1032 17 17
Genomic Location:
Chromosome 25 (position 25446394)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GATCCTAATTTGTCNNTGTGTACAGGCTAATGGTGCAGTGGAGCTCAGTA[T/A]AWACTGTGAAGGTTAYTTCCTGCAGAACATGGCARTTCTGTTGGAGAGAGAA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/10lzl7cg