ZMP

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
sa1297	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa1297

Status:

Available for shipment
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Availability:

Order Allele From ZIRC

Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000029252	Nonsense	93	324	4	8

Genomic Location (Zv9):

Chromosome 1 (position 53152438)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	1	52023037
GRCz11	1	52657775

KASP Assay ID:

554-1212.1 (used for ordering genotyping assays)

KASP Sequence:

CAGGTGAGCATAAAGCCGGGTCAGAGMCTCTACATGGTCAATCAGCAGTA[T/A]CCTTACAGTGTGAAGTTCACGGAGGACACGTCCAGATCCAAACCCTCCAA

Long Flanking Sequence:

GTGTGTGTGTGTGTATAGATATATTTATATGTATTTATGTATGTATATCTATGTATGTATGTACATATATATATATATATTTATATATATATATATATATATATATATAAATATAATGGTATAATATATGTAATTTTAATACAAGTTTTATTAAGTTAACACAAGGCAAAGTAAAAATGAAAATTGTACATTATTATTATAAACATCAGACACATAAACAGTAGTATTTGCTTCGATAAAATATTCTATGAACACATTTACAACATCTAAAATGCCAAGTATTTTTTATTTTTTTTTTAATATCTGATAAGATGCAATTATTATTTTATTCAGCTTCTAGCAAACCAGCTGTGTCGATAATTGTCCGGTTGTCTTGTAATTGAGGCTGTATTGCACAGGTCTCTGGTCTGCTTAACATCACACAAACCAAATGTCGCCCACCTCTGCAAGCAGGTGAGCATAAAGCCGGGTCAGAGACTCTACATGGTCAATCAGCAGTA[T/A]CCTTACAGTGTGAAGTTCACGGAGGACACGTCCAGATCCAAACCCTCCAAAAGAGCCCAGCAGATCCAGAGCCCTACAAAAACAACAGCAGATGTGTCAGACAGCCCACCTCCACCCAAAAAAACAACACCACCTGCTGGTGAAAAATCGGTGAGTTTCTTTTAGATGTATAGGTTGGGAAGTTTCAGTATTTATGCAATAGGAGTATACAGTGCTCGGCATAAATGAGTTTGCAAAATGAATATTTTTATCAATTTCTCAGTGAATATATGTCATATTTTGGTGCATTTGACCAAAACAGATTTATTAAACAGATATATGTATTGAAATAATATTTTAGTCACTGAACATCTGTAGTAATAGAAAGATAAAACATGCAAAAACAATTACAAACTACAAAAATTTCAACAAAATTGTATATATTTATTTGTTTATTTTGTATATAATATTATTTTAGATTTATTTTTTCAATGTGTATGTAATATTTTCCCCTAGTATAT

Associated Phenotype:

Normal

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