Product Details

SNP ID

rs200556076

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.5:72223835 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGAAGTCAGAGCCTTCAGCACTG[C/T]ACCCAGCACATCGAGCTGTGGAGCA

Phenotype

MIM: 611989

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

MRPS27 PubMed Links

Additional Information

For this assay, SNP(s) [rs3209157] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	857	Missense Mutation	ACA,GCA	T299A	NP_001273677.1
NM_001286751.1	857	Missense Mutation	ACA,GCA	T229A	NP_001273680.1
NM_015084.2	857	Missense Mutation	ACA,GCA	T285A	NP_055899.2

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