Product Details

SNP ID
rs139890973
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:197453612 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGAGAAGGGTAGTCTCGGGATGC[C/G]GTCCGAAGTCGGCGACAGCGGCCGG
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
COQ10B PubMed Links

Gene Details

Gene
COQ10B
Gene Name
coenzyme Q10B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320818.1 190 Missense Mutation CGT,GGT R18G NP_001307747.1
NM_001320819.1 190 Intron NP_001307748.1
NM_001320820.1 190 Intron NP_001307749.1
NM_025147.4 190 Missense Mutation CGT,GGT R18G NP_079423.1

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