Product Details

SNP ID

rs190437417

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7565023 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACCCCTCAGCACTGATGAGGTAGT[A/G]GAGAAGCTGGAGGACATTTTCCAGC

Phenotype

MIM: 602641 MIM: 612844 MIM: 602695 MIM: 604472

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EIF4A1 PubMed Links

Gene Details

Gene

EIF4A1

Gene Name

eukaryotic translation initiation factor 4A1

There are no transcripts associated with this gene.

Gene

SENP3

Gene Name

SUMO1/sentrin/SMT3 specific peptidase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015670.5	1303	Silent Mutation	GTA,GTG	V340V	NP_056485.2

Gene

SENP3-EIF4A1

Gene Name

SENP3-EIF4A1 readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

SNORA48

Gene Name

small nucleolar RNA, H/ACA box 48

There are no transcripts associated with this gene.

Gene

TNFSF12

Gene Name

tumor necrosis factor superfamily member 12

There are no transcripts associated with this gene.

Gene

TNFSF12-TNFSF13

Gene Name

TNFSF12-TNFSF13 readthrough

There are no transcripts associated with this gene.

Gene

TNFSF13

Gene Name

tumor necrosis factor superfamily member 13

There are no transcripts associated with this gene.

View Full Product Details