Product Details

SNP ID

rs870892

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7313409 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAGTGGGCTGAAAGTGGCCATGC[A/G]CAGCATAGGGCTGTGGCTGTGGCTG

Phenotype

MIM: 600187 MIM: 601935 MIM: 615865

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EIF5A PubMed Links

Gene Details

Gene

EIF5A

Gene Name

eukaryotic translation initiation factor 5A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143760.1	771	Intron			NP_001137232.1
NM_001143761.1	771	Intron			NP_001137233.1
NM_001143762.1	771	Intron			NP_001137234.1
NM_001970.4	771	Intron			NP_001961.1
XM_005256509.2	771	Intron			XP_005256566.1
XM_011523710.2	771	Intron			XP_011522012.1
XM_011523711.2	771	Intron			XP_011522013.1
XM_011523712.2	771	Intron			XP_011522014.1
XM_011523713.2	771	Intron			XP_011522015.1
XM_017024300.1	771	Intron			XP_016879789.1
XM_017024301.1	771	Intron			XP_016879790.1

Gene

GPS2

Gene Name

G protein pathway suppressor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004489.4	771	Missense Mutation	GCG,GTG	A232V	NP_004480.1

Gene

NEURL4

Gene Name

neuralized E3 ubiquitin protein ligase 4

There are no transcripts associated with this gene.

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