Busch Lab

ZMP

TK2

Ensembl ID:
ENSDARG00000046127
Description:
thymidine kinase 2, mitochondrial [Source:HGNC Symbol;Acc:11831]
Human Orthologue:
TK2
Human Description:
thymidine kinase 2, mitochondrial [Source:HGNC Symbol;Acc:11831]
Mouse Orthologue:
Tk2
Mouse Description:
thymidine kinase 2, mitochondrial Gene [Source:MGI Symbol;Acc:MGI:1913266]

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa34152 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa34152
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000067814 Essential Splice Site 104 268 4 10
Genomic Location (Zv9):
Chromosome 7 (position 45591411)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 44264239
GRCz11 7 44603464
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGACAGAGCCTGTGTCCAAATGGAGAAATGTACAGGGATGCAATCCATTG[G/A]TAGGACTTCAGTGGCGCCTCATTATGAGTTTAAGGAGTGCTGTGTTCTTT
Long Flanking Sequence:
GTACCTTAACAACAAGCGAGGGAAACCAAATTTCTATCAAATTGTACTTGTGATTAGCACTACTAGCAAAATAATGAGCTCTAATTTTAGTGGGTGAAAAACATTGCTTAACGTACCTCAACAAGTCTGCACACCAAAACTGTATGACATTTTACTTGTAATTAACACTAACTACTAGCAAAAGATCAAGCCCTAATTCTGTGGATGAAATGAACAATGTGAAATTACTCTGTCTTCTAAAAGAGCCTTATTCTAGTTGCTAATGAATACAGTTGTATAGATTAGCATGAGCAGTACATTTACAAAAGAAAAATGTCCCTTTGTTATCTGAGATAAAGAAGGGCATTCTGTGTTGTAACATCAGGTTGTGTGAATGGTGACTGCATTTTCAATTTGGTGCAAACCGTCCCTTTAAAAGCTAAAAAAAAATGCCTGTTATGTTTCAGGTGTTGACAGAGCCTGTGTCCAAATGGAGAAATGTACAGGGATGCAATCCATTG[G/A]TAGGACTTCAGTGGCGCCTCATTATGAGTTTAAGGAGTGCTGTGTTCTTTCTGTTTACTTTAAGTTATCATCATTGTAAAAACACACTGGTTTATTAATAGTTTTCACTGCATTTGTTTTGGTTATTTATAAATAGAGGCTATAGCTAATGCATTTATGTTTCACATAATAAAGCGTACTGTACTTCTACGTTGCAAAACAATGTGTATTTGAGTTACAAATATTGTCTTGGTCACCCTAACTTATTTATTCTACCGCAGGGATTGATGTACCAGGACCCGACTCGATGGGGACTCACTCTTCAGACCTATGTTCAGCTTACAATGCTGGATCAACATGTCTCGCCAATGGCATGTACAAATACTCTTTGACATCAGTTGTATTTTCACTTGCTTCACATGCATCTGTTTTTATTCTGCTGTACAATCAGTATCCCTTCCTTCTTGGTGATTGGAAAAAAATAAATGACTTCAATAACTTCTTGTTGTTTTCATTATGAT
Associated Phenotype:
Not determined