Product Details

SNP ID

rs56326305

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:143598056 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCCCGCGTGGCCGTGAAGATGGC[A/C]TTCCGCAAGGCCTACTCCATCAAGG

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005250820.3	153	Intron			XP_005250877.1
XM_005250823.1	153	Intron			XP_005250880.1
XM_006716519.3	153	Intron			XP_006716582.1
XM_006716520.3	153	Intron			XP_006716583.1
XM_006716522.1	153	Intron			XP_006716585.1
XM_006716523.1	153	Intron			XP_006716586.1
XM_006716524.1	153	Intron			XP_006716587.1
XM_006716525.1	153	Intron			XP_006716588.1
XM_011516905.2	153	Intron			XP_011515207.1
XM_011516906.2	153	Intron			XP_011515208.1
XM_017013168.1	153	Intron			XP_016868657.1
XM_017013169.1	153	Intron			XP_016868658.1
XM_017013170.1	153	Intron			XP_016868659.1
XM_017013171.1	153	Intron			XP_016868660.1
XM_017013172.1	153	Intron			XP_016868661.1
XM_017013173.1	153	Intron			XP_016868662.1

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	153	Silent Mutation	GCA,GCC	A51A	NP_116251.4

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