Product Details

SNP ID

rs137999469

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:132869814 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGCTGGGCAGCAGGCAGCCAGGA[C/T]GGCCTGTGGCTTGTAAGTGGGAGTG

Phenotype

MIM: 188450

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TG PubMed Links

Gene Details

Gene

TG

Gene Name

thyroglobulin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003235.4	320	Missense Mutation	CGG,TGG	R88W	NP_003226.4
XM_005251038.4	320	Missense Mutation	CGG,TGG	R88W	XP_005251095.1
XM_005251040.4	320	Missense Mutation	CGG,TGG	R88W	XP_005251097.1
XM_005251042.4	320	Missense Mutation	CGG,TGG	R88W	XP_005251099.1
XM_006716622.3	320	Missense Mutation	CGG,TGG	R88W	XP_006716685.1
XM_017013793.1	320	Missense Mutation	CGG,TGG	R88W	XP_016869282.1
XM_017013794.1	320	Missense Mutation	CGG,TGG	R88W	XP_016869283.1
XM_017013795.1	320	Missense Mutation	CGG,TGG	R88W	XP_016869284.1
XM_017013796.1	320	Missense Mutation	CGG,TGG	R88W	XP_016869285.1
XM_017013797.1	320	Intron			XP_016869286.1
XM_017013798.1	320	Missense Mutation	CGG,TGG	R88W	XP_016869287.1
XM_017013799.1	320	Missense Mutation	CGG,TGG	R88W	XP_016869288.1
XM_017013800.1	320	Missense Mutation	CGG,TGG	R88W	XP_016869289.1

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