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SNP ID

rs139714409

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27774502 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAGAGAAACCGACTGCGGGAAAA[A/G]CTGACTCTTTTGCATTATGATCCAG

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	181	Silent Mutation	AAA,AAG	K40K	NP_004882.1
NM_145330.2	181	Intron			NP_663303.1

Gene

RBKS

Gene Name

ribokinase

There are no transcripts associated with this gene.

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