Product Details

SNP ID
rs139564050
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:150369081 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAGCCATTCTCTGCATTTTGGTTG[C/T]GTGGATCTTTAAAAATGCCGACAGA
Phenotype
MIM: 612025
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IYD PubMed Links

Gene Details

Gene
IYD
Gene Name
iodotyrosine deiodinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164694.1 190 Missense Mutation GCG,GTG A17V NP_001158166.1
NM_001164695.1 190 Missense Mutation GCG,GTG A17V NP_001158167.1
NM_001318495.1 190 UTR 5 NP_001305424.1
NM_203395.2 190 Missense Mutation GCG,GTG A17V NP_981932.1
XM_006715478.3 190 Missense Mutation GCG,GTG A17V XP_006715541.1
XM_006715479.3 190 Intron XP_006715542.1

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