Product Details

SNP ID
rs140183600
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:48576577 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGACCTGGAGGGTATGGATATGGAT[A/G]TGGACGTTCCAGAGACTATAATGGC
Phenotype
MIM: 300027
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RBM3 PubMed Links

Gene Details

Gene
RBM3
Gene Name
RNA binding motif (RNP1, RRM) protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006743.4 620 Missense Mutation TAT,TGT Y129C NP_006734.1

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