Product Details

SNP ID

rs11546385

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:206160619 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCATCACAAGCAGATGTGGCAGTA[C/T]TTGAAGCCGTGTCCAGCCCACCGCC

Phenotype

MIM: 600655 MIM: 157655

Polymorphism

C/T, 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	498	Intron			NP_001032752.1
NM_001959.3	498	Missense Mutation	CTT,TTT	L38F	NP_001950.1
NM_021121.3	498	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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