Product Details

SNP ID
rs147189280
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:197470109 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGAGACTTTTCAATCATTTGGAG[A/T]CTATTTGGCGTTTTAGCCCAGGTCT
Phenotype
Polymorphism
A/T, 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_001320818.1 669 Missense Mutation ACT,TCT T113S NP_001307747.1
NM_001320819.1 669 Missense Mutation ACT,TCT T135S NP_001307748.1
NM_001320820.1 669 Missense Mutation ACT,TCT T120S NP_001307749.1
NM_025147.4 669 Missense Mutation ACT,TCT T163S NP_079423.1

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