Product Details

SNP ID

rs116165962

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:74767425 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTGAGTTAGTGGGACCTGAGGAC[C/T]CTGGGGCGCTGGGGTAGGGGGTGAG

Phenotype

MIM: 606544 MIM: 612497

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GFM2 PubMed Links

Gene Details

Gene

GFM2

Gene Name

G elongation factor mitochondrial 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281302.1		Intron			NP_001268231.1
NM_032380.4		Intron			NP_115756.2
NM_170681.2		Intron			NP_733781.1
NM_170691.2		Intron			NP_733792.1
XM_011543691.2		Intron			XP_011541993.1
XM_017009986.1		Intron			XP_016865475.1

Gene

NSA2

Gene Name

NSA2, ribosome biogenesis homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271665.1		Intron			NP_001258594.1
NM_014886.4		Intron			NP_055701.1
XM_011543098.1		Intron			XP_011541400.1
XM_017008952.1		Intron			XP_016864441.1
XM_017008953.1		Intron			XP_016864442.1

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