Lurp

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


rs12730735

Hard Link
rs12730735 is a snp on gene PTPN22 (protein tyrosine phosphatase, non-receptor type 22 (lymphoid))

GenePTPN22 Chromosome number 1 Chromosome position 113838835
Alleles C/T Minor Allele C Minor Allele Frequency 0.1949
Notation Clinical significance Orientation (dbSNP) + (positive/forward strand)
Gene Function
This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]
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

NOT REPORTED




Opus 23 Curated

NOT CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs9290264 (LOC105374192) | rs1019385 (GRIN2B) | rs2522129 (SIRT4) | rs13146355 (SHROOM3) | rs769217 (CAT) | rs1599971 (PTPN22) | rs12730735 (PTPN22) | rs2187668 (HLA-DQA1) | rs119461976 (SECISBP2) | rs119461977 (SECISBP2) | rs730880269 (SECISBP2)

MOST FREQUENTLY SEARCHED:
rs1801133 (MTHFR) | rs9939609 (FTO) | rs1799941 (SHBG) | rs1801181 (CBS) | rs4680 (COMT) | rs20541 (IL13) | rs6025 (F5) | rs2235544 (DIO1) | rs2569191 (CD14) | rs2075252 (LRP2) | rs2844682 ()








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