Product Details

SNP ID

rs148261939

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:72220968 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTCCTGCTTCGCTTGCTCCCTCT[C/G]TTGCTGTTCTCTCTGGATCAACTGT

Phenotype

MIM: 611989

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MRPS27 PubMed Links

Gene Details

Gene

MRPS27

Gene Name

mitochondrial ribosomal protein S27

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286748.1	1190	Missense Mutation	CAG,GAG	Q410E	NP_001273677.1
NM_001286751.1	1190	Missense Mutation	CAG,GAG	Q340E	NP_001273680.1
NM_015084.2	1190	Missense Mutation	CAG,GAG	Q396E	NP_055899.2

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