aptx

Ensembl ID:
ENSDARG00000027143
ZFIN ID:
ZDB-GENE-040628-2
Description:
Aprataxin [Source:UniProtKB/Swiss-Prot;Acc:P61799]
Human Orthologue:
APTX
Human Description:
aprataxin [Source:HGNC Symbol;Acc:15984]
Mouse Orthologue:
Aptx
Mouse Description:
aprataxin Gene [Source:MGI Symbol;Acc:MGI:1913658]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa1297 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa1297
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
ENSDART00000029252 Nonsense 93 324 4 8
Genomic Location:
Chromosome 1 (position 53152438)
KASP Assay ID:
554-1212.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAGGTGAGCATAAAGCCGGGTCAGAGMCTCTACATGGTCAATCAGCAGTA[T/A]CCTTACAGTGTGAAGTTCACGGAGGACACGTCCAGATCCAAACCCTCCAA
Associated Phenotype:

Normal

Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037
whole organism
ZFA:0001094
quality
PATO:0000001
normal
PATO:0000461

Register

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* quick link - http://q.sanger.ac.uk/454ow3k9