Product Details

SNP ID

rs35283923

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68891393 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGAGGACAGTCTGCGGGGTCGTGA[C/T]GACTGAAAGAAAGGATGTCACAGGC

Phenotype

MIM: 611834

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MRPL21 PubMed Links

Gene Details

Gene

MRPL21

Gene Name

mitochondrial ribosomal protein L21

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181514.1	594	Missense Mutation	ATC,GTC	I186V	NP_852615.1
NM_181515.1	594	Missense Mutation	ATC,GTC	I101V	NP_852616.1
XM_005273823.4	594	Intron			XP_005273880.1

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