Product Details
- SNP ID
-
rs142284140
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:99402946 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTAGAAACCCATCAATTAACTTCTG[A/G]GGACTGCCACAGGCCCCTGGCAGAG
- Phenotype
-
MIM: 606086
MIM: 606134
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
EIF5B
PubMed Links
Gene Details
- Gene
- EIF5B
- Gene Name
- eukaryotic translation initiation factor 5B
There are no transcripts associated with this gene.
- Gene
- REV1
- Gene Name
- REV1, DNA directed polymerase
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001037872.2 |
2938 |
Silent Mutation |
CCC,CCT |
P1108P |
NP_001032961.1 |
NM_001321454.1 |
2938 |
Silent Mutation |
CCC,CCT |
P1145P |
NP_001308383.1 |
NM_001321455.1 |
2938 |
Silent Mutation |
CCC,CCT |
P1038P |
NP_001308384.1 |
NM_001321458.1 |
2938 |
Silent Mutation |
CCC,CCT |
P619P |
NP_001308387.1 |
NM_001321459.1 |
2938 |
Silent Mutation |
CCC,CCT |
P586P |
NP_001308388.1 |
NM_001321460.1 |
2938 |
Silent Mutation |
CCC,CCT |
P586P |
NP_001308389.1 |
NM_016316.3 |
2938 |
Silent Mutation |
CCC,CCT |
P1109P |
NP_057400.1 |
XM_011511341.2 |
2938 |
Silent Mutation |
CCC,CCT |
P619P |
XP_011509643.1 |
XM_017004309.1 |
2938 |
Silent Mutation |
CCC,CCT |
P1155P |
XP_016859798.1 |
XM_017004310.1 |
2938 |
Silent Mutation |
CCC,CCT |
P1145P |
XP_016859799.1 |
XM_017004311.1 |
2938 |
Silent Mutation |
CCC,CCT |
P1145P |
XP_016859800.1 |
XM_017004312.1 |
2938 |
Silent Mutation |
CCC,CCT |
P1144P |
XP_016859801.1 |
XM_017004313.1 |
2938 |
Silent Mutation |
CCC,CCT |
P1216P |
XP_016859802.1 |
XM_017004314.1 |
2938 |
Silent Mutation |
CCC,CCT |
P619P |
XP_016859803.1 |
XM_017004315.1 |
2938 |
Silent Mutation |
CCC,CCT |
P616P |
XP_016859804.1 |
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