Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs12885300

Hard Link
rs12885300 is a snp on gene DIO2 (deiodinase, iodothyronine, type II)

GeneDIO2 Chromosome number 14 Chromosome position 80211923
Alleles C/G/T Minor Allele T Minor Allele Frequency 0.1919
Notation (ORFa)-Gly3Asp -451G>A Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
5’ UTR variant.
Gene Function
The DIO2 gene provides instructions for making the type II iodothyronine deiodinase enzyme. This enzyme belongs to the iodothyronine deiodinase family. It activates thyroid hormone by converting the hormone precursor thyroxine (T4) by removing a molecule of iodine to active triiodothyronine (T3). It is found in the thyroid gland, and may be responsible for the relative increase in production of T3 in the thyroid in patients with Graves disease (an autoimmune disease causing overactitity of the thyroid) and thyroid adenomas (tumors). This protein contains selenocysteine. 
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

NOT REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs4880 (SOD2) | rs13063628 (THRB) | rs225014 (DIO2) | rs12885300 (DIO2-AS1) | rs12095080 (DIO1) | rs1991517 (LOC101928462) | rs2235544 (DIO1) | rs651852 (BHMT) | rs1801131 (MTHFR) | rs1799853 (CYP2C9) | rs1801181 (CBS)

MOST FREQUENTLY SEARCHED:
rs9939609 (FTO) | rs1799941 (SHBG) | rs1801133 (MTHFR) | rs2844682 (MUC21) | rs2569191 (CD14) | rs6025 (F5) | rs4680 (COMT) | rs20541 (IL13) | rs1801181 (CBS) | rs2075252 (LRP2) | rs2476601 (PTPN22)








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