Product Details

SNP ID

rs142663259

Assay Type

Functionally Tested

NCBI dbSNP Submissions

2

Location

Chr.1:151762426 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTTTTCAGGGGATGCATATACAG[C/T]CAGTCCCTGAGGAAGGAGTCGATTC

Phenotype

MIM: 611824 MIM: 605138 MIM: 609501

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

MRPL9 PubMed Links

Additional Information

For this assay, SNP(s) [rs56289123] 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

MRPL9

Gene Name

mitochondrial ribosomal protein L9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300733.1	822	Missense Mutation	ACT,GCT	T129A	NP_001287662.1
NM_031420.3	822	Missense Mutation	ACT,GCT	T129A	NP_113608.1

Gene

OAZ3

Gene Name

ornithine decarboxylase antizyme 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134939.1	822	Intron			NP_001128411.1
NM_001301371.1	822	Intron			NP_001288300.1
NM_016178.2	822	Intron			NP_057262.2

Gene

TDRKH

Gene Name

tudor and KH domain containing

There are no transcripts associated with this gene.

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