Lurp

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


rs2844682

Hard Link
rs2844682 is a snp on gene MUC21 (mucin 21, cell surface associated)

GeneMUC21 Chromosome number 6 Chromosome position NaN
Alleles G/A (transliterated to +) Minor Allele A Minor Allele Frequency 0.1534
Notation Clinical significance Orientation (dbSNP) - (negative/reverse strand)
Gene Function
The MUC21 gene provides instructions for making the mucin 21 protein that belongs to a family of proteins called MUC. Genes in this gene family provide instructions for making proteins called mucins. These proteins make up mucus, a slippery substance that lubricates and protects the lining of the airways, digestive system, reproductive system, and other organs and tissues. Mucin 21 is a membrane-associated mucin, and spans the cell's outer membrane. Both secreted and membrane-associated mucins contain a region called the mucin domain that is composed of repeated stretches of protein building blocks (amino acids). Sugar molecules are attached to certain amino acids in this region. Mucins are extensively modified by the addition of numerous chains of sugar molecules, which are critical for the function of the proteins. The network of sugar molecules that project from the proteins like branches on a tree, prevents access to the cell surface below, protecting the body from foreign invaders and other particles. The sugars also attract water molecules, helping lubricate and hydrate the tissues. In addition to protecting the body, membrane-associated mucins are involved in cell signaling. The portion of the protein that reaches inside the cell, called the cytoplasmic tail, relays signals from outside the cell to the cell's nucleus; these signals instruct the cell to undergo certain changes. Through this process, mucins are thought to be involved in cell growth and division (proliferation), helping cells stick to one another (cell adhesion), cell movement (motility), and cell survival. Some researchers suggest that certain membrane-associated mucins are able to help control the activity of other genes, and some mucins appear to be involved in development of organs before birth. Mutations in the MUC21 gene may be associated with breast cancer.      
Pharmacogenomics
Carbamazepine (G): Patients with the AG or GG genotype (in Asian patients) were at a higher risk of Steven-Johnson Syndrome compared to those with the AA genotype
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

NOT REPORTED




Opus 23 Curated

NOT CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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rs13063628 (THRB) | rs225014 (DIO2) | rs12885300 (DIO2-AS1) | rs12095080 (DIO1) | rs1991517 (LOC101928462) | rs2235544 (DIO1) | rs651852 (BHMT) | rs1801131 (MTHFR) | rs1799853 (CYP2C9) | rs1801181 (CBS) | rs1801394 (MTRR)

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








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