Product Details

SNP ID
rs201979165
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:115033453 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTCCAACTGAGTATACAATGCAC[A/G]TCGAAAGGAGAGAGTGTGCTTATTG
Phenotype
MIM: 188540
Polymorphism
A/G, Transition 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_000549.4 129 Missense Mutation ATC,GTC I31V NP_000540.2
NM_001277991.1 129 Intron NP_001264920.1
XM_011542065.2 129 Missense Mutation ATC,GTC I31V XP_011540367.1

View Full Product Details