Product Details

SNP ID

rs41272290

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:72223595 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTTTAATGCCTCTTTGTGTGACA[C/T]TGATGCAGAAAGAATGCTTATCCAT

Phenotype

MIM: 611989

Polymorphism

C/T, Transition 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		Intron			NP_001273677.1
NM_001286751.1		Intron			NP_001273680.1
NM_015084.2		Intron			NP_055899.2

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