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SNP ID

rs200342072

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:48576540 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACCAGGGCTATGGGAGTGGCAGG[G/T]ATTATGACAGTCGACCTGGAGGGTA

Phenotype

MIM: 300027

Polymorphism

G/T, Transversion 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	583	Missense Mutation	GAT,TAT	D117Y	NP_006734.1

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