Product Details

SNP ID

rs147989406

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:115033502 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTAACCATCAACACCACCATCT[C/G]TGCTGGATATTGTATGACACGGGTA

Phenotype

MIM: 188540

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

TSHB PubMed Links

Gene Details

Gene

TSHB

Gene Name

thyroid stimulating hormone beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000549.4	178	Missense Mutation	TCT,TGT	S47C	NP_000540.2
NM_001277991.1	178	Intron			NP_001264920.1
XM_011542065.2	178	Missense Mutation	TCT,TGT	S47C	XP_011540367.1

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