Product Details

SNP ID

rs147545257

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:59806526 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTTCGCATCTTCTCTAGAGTCC[C/T]GCGGCTCACAGCCTTTGCTGCGAAG

Phenotype

MIM: 611829 MIM: 600876

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

MRPL16 PubMed Links

Additional Information

For this assay, SNP(s) [rs491671] are located under a primer 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

MRPL16

Gene Name

mitochondrial ribosomal protein L16

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017840.3	791	Missense Mutation	AGG,GGG	R193G	NP_060310.1

Gene

STX3

Gene Name

syntaxin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001178040.1	791	Intron			NP_001171511.1
NM_004177.4	791	Intron			NP_004168.1
XM_005274195.3	791	Intron			XP_005274252.1
XM_005274198.2	791	Intron			XP_005274255.1
XM_005274200.3	791	Intron			XP_005274257.1
XM_011545221.2	791	Intron			XP_011543523.1
XM_017018188.1	791	Intron			XP_016873677.1
XM_017018189.1	791	Intron			XP_016873678.1
XM_017018190.1	791	Intron			XP_016873679.1
XM_017018191.1	791	Intron			XP_016873680.1
XM_017018192.1	791	Intron			XP_016873681.1
XM_017018193.1	791	Intron			XP_016873682.1
XM_017018194.1	791	Intron			XP_016873683.1
XM_017018195.1	791	Intron			XP_016873684.1
XM_017018196.1	791	Intron			XP_016873685.1

View Full Product Details