Product Details

SNP ID

rs200458387

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:151762460 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGAAGGAGTCGATTCCGGCCTAA[A/G]GATTTCTTCACTGAGACCAGGTCAC

Phenotype

MIM: 611824 MIM: 605138 MIM: 609501

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MRPL9 PubMed Links

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	788	Silent Mutation	TCC,TCT	S117S	NP_001287662.1
NM_031420.3	788	Silent Mutation	TCC,TCT	S117S	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	788	Intron			NP_001128411.1
NM_001301371.1	788	Intron			NP_001288300.1
NM_016178.2	788	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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