Product Details

SNP ID

rs192233758

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:170893369 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTGATGTTTCCGTTTATTTGCA[C/G]GGTTTTATGGCTACAGCATATTCTT

Phenotype

MIM: 605782

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

EIF5A2 PubMed Links

Gene Details

Gene

EIF5A2

Gene Name

eukaryotic translation initiation factor 5A2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020390.5	583	Silent Mutation	CCC,CCG	P151P	NP_065123.1

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