Product Details

SNP ID
rs143534521
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:99402898 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAGTTAAGGAATTACCAGGGGTTT[A/C]TCTGCAGGAGGTCCTTCATGTTTTA
Phenotype
MIM: 606086 MIM: 606134
Polymorphism
A/C, Transversion 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 2986 Missense Mutation NP_001032961.1
NM_001321454.1 2986 Missense Mutation NP_001308383.1
NM_001321455.1 2986 Missense Mutation NP_001308384.1
NM_001321458.1 2986 Missense Mutation NP_001308387.1
NM_001321459.1 2986 Missense Mutation NP_001308388.1
NM_001321460.1 2986 Missense Mutation NP_001308389.1
NM_016316.3 2986 Missense Mutation NP_057400.1
XM_011511341.2 2986 Missense Mutation XP_011509643.1
XM_017004309.1 2986 Missense Mutation XP_016859798.1
XM_017004310.1 2986 Missense Mutation XP_016859799.1
XM_017004311.1 2986 Missense Mutation XP_016859800.1
XM_017004312.1 2986 Missense Mutation XP_016859801.1
XM_017004313.1 2986 Missense Mutation XP_016859802.1
XM_017004314.1 2986 Missense Mutation XP_016859803.1
XM_017004315.1 2986 Missense Mutation XP_016859804.1

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