Product Details
- SNP ID
-
rs147166048
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.13:33818184 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCCCGGGAACTCGAGCTGCCATGAG[C/G]CTCTGGGTGGACAAGTATCGGCCCT
- Phenotype
-
MIM: 600405
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
RFC3
PubMed Links
Gene Details
- Gene
- RFC3
- Gene Name
- replication factor C subunit 3
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_002915.3 |
136 |
Missense Mutation |
AGC,AGG |
S2R |
NP_002906.1 |
NM_181558.2 |
136 |
Missense Mutation |
AGC,AGG |
S2R |
NP_853536.2 |
XM_011535172.2 |
136 |
Missense Mutation |
AGC,AGG |
S2R |
XP_011533474.1 |
XM_011535173.2 |
136 |
Missense Mutation |
AGC,AGG |
S2R |
XP_011533475.1 |
XM_011535174.2 |
136 |
Missense Mutation |
AGC,AGG |
S2R |
XP_011533476.1 |
XM_011535175.1 |
136 |
Missense Mutation |
AGC,AGG |
S2R |
XP_011533477.1 |
XM_017020680.1 |
136 |
Missense Mutation |
AGC,AGG |
S2R |
XP_016876169.1 |
XM_017020681.1 |
136 |
Missense Mutation |
AGC,AGG |
S2R |
XP_016876170.1 |
XM_017020682.1 |
136 |
Missense Mutation |
AGC,AGG |
S2R |
XP_016876171.1 |
XM_017020683.1 |
136 |
Missense Mutation |
AGC,AGG |
S2R |
XP_016876172.1 |
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