Product Details
- SNP ID
-
rs200883086
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:41142961 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GACACAGTAGAGTTGGTTTCCACCC[C/T]TGAAGCACTGTGGGGGCAATAGGCA
- 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 |
3066 |
Missense Mutation |
AAG,AGG |
K890R |
NP_000056.2 |
NM_001115131.2 |
3066 |
Missense Mutation |
AAG,AGG |
K890R |
NP_001108603.2 |
XM_005248357.2 |
3066 |
Missense Mutation |
AAG,AGG |
K899R |
XP_005248414.1 |
XM_006714496.3 |
3066 |
Missense Mutation |
AAG,AGG |
K918R |
XP_006714559.1 |
XM_011514114.2 |
3066 |
Missense Mutation |
AAG,AGG |
K927R |
XP_011512416.1 |
XM_011514115.2 |
3066 |
Missense Mutation |
AAG,AGG |
K918R |
XP_011512417.1 |
XM_011514116.2 |
3066 |
Missense Mutation |
AAG,AGG |
K918R |
XP_011512418.1 |
XM_011514117.2 |
3066 |
Missense Mutation |
AAG,AGG |
K918R |
XP_011512419.1 |
XM_011514118.2 |
3066 |
Missense Mutation |
AAG,AGG |
K918R |
XP_011512420.1 |
XM_011514119.2 |
3066 |
Missense Mutation |
AAG,AGG |
K908R |
XP_011512421.1 |
XM_011514121.2 |
3066 |
Missense Mutation |
AAG,AGG |
K599R |
XP_011512423.1 |
XM_017009818.1 |
3066 |
Missense Mutation |
AAG,AGG |
K918R |
XP_016865307.1 |
XM_017009819.1 |
3066 |
Missense Mutation |
AAG,AGG |
K770R |
XP_016865308.1 |
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