Product Details

SNP ID
rs115220610
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:41149259 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACTTACCTGAACATTTTTCCCAGT[C/T]ATAGCAGGTGTCATAGCCACAGGAT
Phenotype
MIM: 217050
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C6 PubMed Links

Gene Details

Gene
C6
Gene Name
complement component 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000065.3 3002 Missense Mutation NP_000056.2
NM_001115131.2 3002 Missense Mutation NP_001108603.2
XM_005248357.2 3002 Missense Mutation XP_005248414.1
XM_006714496.3 3002 Missense Mutation XP_006714559.1
XM_011514114.2 3002 Missense Mutation XP_011512416.1
XM_011514115.2 3002 Missense Mutation XP_011512417.1
XM_011514116.2 3002 Missense Mutation XP_011512418.1
XM_011514117.2 3002 Missense Mutation XP_011512419.1
XM_011514118.2 3002 Missense Mutation XP_011512420.1
XM_011514119.2 3002 Missense Mutation XP_011512421.1
XM_011514121.2 3002 Missense Mutation XP_011512423.1
XM_017009818.1 3002 Missense Mutation XP_016865307.1
XM_017009819.1 3002 Missense Mutation XP_016865308.1

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