Product Details

SNP ID

rs191248532

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:103337168 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTAATTCTTGTAAAGCCTGTGGCT[A/G]TCGAGGCATGCTTGACACACATCAT

Phenotype

MIM: 601710

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EIF5 PubMed Links

Gene Details

Gene

EIF5

Gene Name

eukaryotic translation initiation factor 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001969.4	913	Missense Mutation	TAT,TGT	Y127C	NP_001960.2
NM_183004.4	913	Missense Mutation	TAT,TGT	Y127C	NP_892116.2

Gene

LOC105370687

Gene Name

translation initiation factor IF-2-like

There are no transcripts associated with this gene.

Gene

SNORA28

Gene Name

small nucleolar RNA, H/ACA box 28

There are no transcripts associated with this gene.

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