Product Details

SNP ID
rs140019251
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:35306722 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGATGTCGAGGGTCTTCACATTTCC[G/T]GTTGAAGAAGGTTCTCCAGAGGGCA
Phenotype
MIM: 611797
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
UQCC1 PubMed Links

Gene Details

Gene
UQCC1
Gene Name
ubiquinol-cytochrome c reductase complex assembly factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184977.1 797 Silent Mutation NP_001171906.1
NM_018244.4 797 Silent Mutation NP_060714.3
NM_199487.2 797 Silent Mutation NP_955781.2
XM_011528877.1 797 Missense Mutation XP_011527179.1
XM_011528878.1 797 Missense Mutation XP_011527180.1
XM_011528879.1 797 Missense Mutation XP_011527181.1
XM_011528880.1 797 Missense Mutation XP_011527182.1
XM_011528881.2 797 Missense Mutation XP_011527183.1
XM_011528882.1 797 Missense Mutation XP_011527184.1
XM_011528883.1 797 Missense Mutation XP_011527185.1
XM_011528884.1 797 Missense Mutation XP_011527186.1

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