Product Details

SNP ID

rs201365774

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:143599279 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTTCATGCTCAAGGACATGCTCT[A/C]CCTGGCTGGCCTCTCCTGGGACCTG

Phenotype

MIM: 130592 MIM: 616408

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

EEF1D PubMed Links

Gene Details

Gene

EEF1D

Gene Name

eukaryotic translation elongation factor 1 delta

There are no transcripts associated with this gene.

Gene

PYCRL

Gene Name

pyrroline-5-carboxylate reductase-like

There are no transcripts associated with this gene.

Gene

TIGD5

Gene Name

tigger transposable element derived 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032862.4	1376	Missense Mutation	TAC,TCC	Y459S	NP_116251.4

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