Lurp

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


rs1991517

Hard Link
rs1991517 is a snp on gene TSHR (thyroid stimulating hormone receptor)

GeneTSHR Chromosome number 14 Chromosome position 81144239
Alleles C/G Minor Allele G Minor Allele Frequency 0.1032
Notation 2181G>C Glu272Asp Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
Missense variant.
Gene Function
The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

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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