Product Details

SNP ID

rs8480

Assay Type

Functionally Tested

NCBI dbSNP Submissions

80

Location

Chr.1:151760859 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTCGCCCCACCGTGTGATAGGCTCT[G/T]CTGGTAACTTTAATGTATGTGGGGC

Phenotype

MIM: 611824 MIM: 605138 MIM: 609501

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

MRPL9 PubMed Links

Additional Information

For this assay, SNP(s) [rs74228558] 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

MRPL9

Gene Name

mitochondrial ribosomal protein L9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300733.1	1066	Missense Mutation	GAA,GCA	E176A	NP_001287662.1
NM_031420.3	1066	Missense Mutation	GAA,GCA	E210A	NP_113608.1

Gene

OAZ3

Gene Name

ornithine decarboxylase antizyme 3

There are no transcripts associated with this gene.

Gene

TDRKH

Gene Name

tudor and KH domain containing

There are no transcripts associated with this gene.

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