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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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