Product Details

SNP ID

rs11546387

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:206160612 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTATGTGCCATCACAAGCAGATGT[A/G]GCAGTATTTGAAGCCGTGTCCAGCC

Phenotype

MIM: 600655 MIM: 157655

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EEF1B2 PubMed Links

Gene Details

Gene

EEF1B2

Gene Name

eukaryotic translation elongation factor 1 beta 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037663.1	491	Intron			NP_001032752.1
NM_001959.3	491	Silent Mutation	GTA,GTG	V35V	NP_001950.1
NM_021121.3	491	Intron			NP_066944.1

Gene

NDUFS1

Gene Name

NADH:ubiquinone oxidoreductase core subunit S1

There are no transcripts associated with this gene.

Gene

SNORA41

Gene Name

small nucleolar RNA, H/ACA box 41

There are no transcripts associated with this gene.

Gene

SNORD51

Gene Name

small nucleolar RNA, C/D box 51

There are no transcripts associated with this gene.

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