Product Details

SNP ID
rs34946819
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:197459969 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTGGTATACTGATGAGCAGAACT[C/T]TTCCACTACATACCTCAATTTTGCC
Phenotype
Polymorphism
C/T, Transition 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_001320818.1 324 Intron NP_001307747.1
NM_001320819.1 324 Missense Mutation CTT,TTT L20F NP_001307748.1
NM_001320820.1 324 Missense Mutation CTT,TTT L5F NP_001307749.1
NM_025147.4 324 Missense Mutation CTT,TTT L48F NP_079423.1

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