Product Details

SNP ID

rs139753069

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:151760821 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGTATGCAAAACACTCACCGTCA[C/G]CTCACACCAATACTCGCCCCACCGT

Phenotype

MIM: 611824 MIM: 605138 MIM: 609501

Polymorphism

C/G, Transversion 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	1104	Missense Mutation	CTG,GTG	L189V	NP_001287662.1
NM_031420.3	1104	Missense Mutation	CTG,GTG	L223V	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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