Product Details

SNP ID

rs148292838

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27781709 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTGCTGCAATGAAATTGGATCTG[C/T]TGAGCATGTCTTCCAAGGACAGATT

Phenotype

MIM: 610059 MIM: 611132

Polymorphism

C/T, Transition 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	2045	Missense Mutation	AAC,AGC	N225S	NP_001274509.1
NM_022128.2	2045	Missense Mutation	AAC,AGC	N292S	NP_071411.1

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