Product Details

SNP ID

rs3087392

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:99403001 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAGGACTGTTAAGCAGCTTGTTA[G/T]TCAAAGGACTCTGAATCCTTTTTGG

Phenotype

MIM: 606086 MIM: 606134

Polymorphism

G/T, 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	2883	Missense Mutation	AAT,ACT	N1090T	NP_001032961.1
NM_001321454.1	2883	Missense Mutation	AAT,ACT	N1127T	NP_001308383.1
NM_001321455.1	2883	Missense Mutation	AAT,ACT	N1020T	NP_001308384.1
NM_001321458.1	2883	Missense Mutation	AAT,ACT	N601T	NP_001308387.1
NM_001321459.1	2883	Missense Mutation	AAT,ACT	N568T	NP_001308388.1
NM_001321460.1	2883	Missense Mutation	AAT,ACT	N568T	NP_001308389.1
NM_016316.3	2883	Missense Mutation	AAT,ACT	N1091T	NP_057400.1
XM_011511341.2	2883	Missense Mutation	AAT,ACT	N601T	XP_011509643.1
XM_017004309.1	2883	Missense Mutation	AAT,ACT	N1137T	XP_016859798.1
XM_017004310.1	2883	Missense Mutation	AAT,ACT	N1127T	XP_016859799.1
XM_017004311.1	2883	Missense Mutation	AAT,ACT	N1127T	XP_016859800.1
XM_017004312.1	2883	Missense Mutation	AAT,ACT	N1126T	XP_016859801.1
XM_017004313.1	2883	Missense Mutation	AAT,ACT	N1198T	XP_016859802.1
XM_017004314.1	2883	Missense Mutation	AAT,ACT	N601T	XP_016859803.1
XM_017004315.1	2883	Missense Mutation	AAT,ACT	N598T	XP_016859804.1

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