Product Details

SNP ID
rs141078819
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:128323048 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCGGGCTAGGAGCGACGGCGCC[A/G]GCCCGCTATACTCGCACCACCTCCC
Phenotype
MIM: 612898 MIM: 610727
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COQ4 PubMed Links

Gene Details

Gene
COQ4
Gene Name
coenzyme Q4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001305942.1 454 Missense Mutation AGC,GGC S35G NP_001292871.1
NM_016035.4 454 Missense Mutation AGC,GGC S35G NP_057119.2
XM_017014792.1 454 Missense Mutation AGC,GGC S35G XP_016870281.1
XM_017014793.1 454 Missense Mutation AGC,GGC S35G XP_016870282.1
Gene
TRUB2
Gene Name
TruB pseudouridine synthase family member 2
There are no transcripts associated with this gene.

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