Product Details

SNP ID

rs112640832

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:15042995 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGAGTATAATGGCCAGATCACCG[A/G]AGCCAGTCTATAGCGCAAACCACAC

Phenotype

MIM: 611987 MIM: 601426

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MRPS25 PubMed Links

Gene Details

Gene

MRPS25

Gene Name

mitochondrial ribosomal protein S25

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022497.4	2140	Intron			NP_071942.1

Gene

NR2C2

Gene Name

nuclear receptor subfamily 2 group C member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291694.1	2140	Missense Mutation	GAA,GGA	E593G	NP_001278623.1
NM_003298.4	2140	Missense Mutation	GAA,GGA	E612G	NP_003289.2
XM_011534058.2	2140	Missense Mutation	GAA,GGA	E645G	XP_011532360.1
XM_011534059.2	2140	Missense Mutation	GAA,GGA	E645G	XP_011532361.1
XM_011534061.2	2140	Missense Mutation	GAA,GGA	E645G	XP_011532363.1
XM_011534063.2	2140	Missense Mutation	GAA,GGA	E626G	XP_011532365.1
XM_011534064.2	2140	Missense Mutation	GAA,GGA	E612G	XP_011532366.1
XM_011534065.2	2140	Missense Mutation	GAA,GGA	E612G	XP_011532367.1
XM_011534066.2	2140	Missense Mutation	GAA,GGA	E612G	XP_011532368.1
XM_017007118.1	2140	Missense Mutation	GAA,GGA	E645G	XP_016862607.1
XM_017007119.1	2140	Missense Mutation	GAA,GGA	E645G	XP_016862608.1
XM_017007120.1	2140	Missense Mutation	GAA,GGA	E593G	XP_016862609.1

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