Product Details

SNP ID

rs199799769

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7316305 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACGCCACCTGAGCCTGGTGCGTCC[A/G]CTGGGATTTGGGGTCCCGGAATCTG

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

There are no transcripts associated with this gene.

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	4508	Intron			NP_004480.1

Gene

NEURL4

Gene Name

neuralized E3 ubiquitin protein ligase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005408.1	4508	Missense Mutation	CGG,TGG	R1501W	NP_001005408.1
NM_032442.2	4508	Missense Mutation	CGG,TGG	R1503W	NP_115818.2

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