Product Details

SNP ID

rs199749713

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27779486 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAAAAATACGCTCCCTTTAAACG[A/G]TGGATTGAAAATGACTTTGATTTAT

Phenotype

MIM: 610059 MIM: 611132

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MRPL33 PubMed Links

Gene Details

Gene

MRPL33

Gene Name

mitochondrial ribosomal protein L33

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004891.3	263	UTR 3			NP_004882.1
NM_145330.2	263	Missense Mutation	GAT,GGT	D32G	NP_663303.1

Gene

RBKS

Gene Name

ribokinase

There are no transcripts associated with this gene.

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