top1mt

Ensembl ID:
ENSDARG00000027824
ZFIN ID:
ZDB-GENE-040624-2
Description:
DNA topoisomerase I, mitochondrial [Source:RefSeq peptide;Acc:NP_001001838]
Human Orthologues:
TOP1, TOP1MT
Human Descriptions:
topoisomerase (DNA) I [Source:HGNC Symbol;Acc:11986]
topoisomerase (DNA) I, mitochondrial [Source:HGNC Symbol;Acc:29787]
Mouse Orthologues:
Top1, Top1mt
Mouse Descriptions:
DNA topoisomerase 1, mitochondrial Gene [Source:MGI Symbol;Acc:MGI:1920210]
topoisomerase (DNA) I Gene [Source:MGI Symbol;Acc:MGI:98788]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa14373 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa14373
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000025550 Essential Splice Site 147 262 4 7
Genomic Location (Zv9):
Chromosome 24 (position 43774280)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 42138848
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGGCAGCACCCAAAACMTTCGAGAAGTCCATGCAGCTGCTGCAAGARAAG[G/A]TGAGCAGACAAATACACACRCAATACTACACAWTAACNNNNNNNNNNAMA
Associated Phenotype:
Not determined

GWAS

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

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

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