Product Details

SNP ID

rs141398642

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27781684 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGTGTTCCTGCAGCCTGGACACT[G/T]ACTGCTGCAATGAAATTGGATCTGT

Phenotype

MIM: 610059 MIM: 611132

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MRPL33 PubMed Links

Gene Details

Gene

MRPL33

Gene Name

mitochondrial ribosomal protein L33

There are no transcripts associated with this gene.

Gene

RBKS

Gene Name

ribokinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001287580.1	2070	Silent Mutation	GTA,GTC	V233V	NP_001274509.1
NM_022128.2	2070	Silent Mutation	GTA,GTC	V300V	NP_071411.1

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