Product Details

SNP ID

rs200018228

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:45914921 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTATCCACACACCAGCAGAAGCCCC[A/G]CTTCCTGCCTTTGGAAGGGCGACAC

Phenotype

MIM: 146732

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IGFBP3 PubMed Links

Gene Details

Gene

IGFBP3

Gene Name

insulin like growth factor binding protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000598.4	925	Missense Mutation	CGG,TGG	R259W	NP_000589.2
NM_001013398.1	925	Missense Mutation	CGG,TGG	R265W	NP_001013416.1
XM_017012152.1	925	Missense Mutation	CGG,TGG	R259W	XP_016867641.1

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