Product Details

SNP ID

rs2291381

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:131469730 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATATTCTGTCCTGTATATGTTTCCC[A/G]TTTTTCCAGGCATTTTAGTTCCAGG

Phenotype

MIM: 607118

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MRPL3 PubMed Links

Gene Details

Gene

MRPL3

Gene Name

mitochondrial ribosomal protein L3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007208.3	977	Missense Mutation	ACG,ATG	T261M	NP_009139.1

Gene

SNORA58

Gene Name

small nucleolar RNA, H/ACA box 58

There are no transcripts associated with this gene.

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