Product Details

SNP ID
rs111535641
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:128325863 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGGCTCCCTCGGTCGCGAGTATCT[A/C]CGTTTCCTGGATGTGAACGTGAGTT
Phenotype
MIM: 612898 MIM: 610727
Polymorphism
A/C, Transversion 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_001305942.1 638 Missense Mutation TAC,TCC Y96S NP_001292871.1
NM_016035.4 638 Silent Mutation CTA,CTC L128L NP_057119.2
XM_017014792.1 638 Missense Mutation TAC,TCC Y96S XP_016870281.1
XM_017014793.1 638 Missense Mutation TAC,TCC Y96S 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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