MUC5B

mucin 5B, oligomeric mucus/gel-forming

Summary

This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010]

Known Variants993 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs35705950	11:1,225,541	G/T	upstream gene variant	risk factor
rs868903	11:1,242,690	T/C	upstream gene variant	—
rs885454	11:1,243,391	G/A	regulatory region variant	—
rs7115457	11:1,244,060	G/A	—	benign
rs7118568	11:1,244,080	C/G	—	benign
rs56235854	11:1,244,197	A/G	—	benign
rs2735738	11:1,244,219	T/C	—	benign
rs1162577922	11:1,244,431	C/T	—	likely benign
rs2672785	11:1,246,941	G/A	—	benign
rs56037586	11:1,246,976	C/T	—	benign
rs765839253	11:1,247,451	G/A	—	likely benign
rs2075853	11:1,247,458	T/C	—	benign
rs1380462898	11:1,247,485	A/G	—	uncertain significance
rs1282947677	11:1,247,503	A/G	—	uncertain significance
rs776408111	11:1,247,833	C/T	—	likely benign
rs1233310492	11:1,247,856	G/A	—	uncertain significance
rs767460423	11:1,247,871	G/T	—	uncertain significance
rs1049302560	11:1,247,949	G/A	—	uncertain significance
rs56168747	11:1,247,969	C/T	—	benign
rs780107364	11:1,247,973	G/A	—	uncertain significance
rs199733278	11:1,248,001	G/A	—	benign
rs757478122	11:1,248,036	C/T	—	uncertain significance
rs749198134	11:1,248,073	C/G	—	uncertain significance
rs368203418	11:1,248,081	G/A	—	uncertain significance
rs56293203	11:1,248,087	G/A	—	benign
rs545375302	11:1,248,095	C/T	—	likely benign
rs908224	11:1,248,197	G/T	—	benign
rs373084159	11:1,248,291	C/T	—	benign
rs2494164498	11:1,248,346	T/C	—	uncertain significance
rs56394097	11:1,248,384	G/T	—	benign
rs908223	11:1,248,491	T/G	—	benign
rs374789248	11:1,248,603	G/A	—	likely benign
rs201684290	11:1,248,620	A/G	—	uncertain significance
rs55902810	11:1,248,723	T/C	—	benign
rs2075854	11:1,248,731	A/G	—	benign
rs1861920085	11:1,248,940	C/A	—	uncertain significance
rs2075855	11:1,248,960	G/A	—	benign
rs56179538	11:1,248,994	G/A	—	benign
rs4963050	11:1,249,536	G/T	—	benign
rs2672811	11:1,249,601	C/G	—	benign
rs1206614218	11:1,249,845	G/A	—	uncertain significance
rs371465585	11:1,249,864	C/A	—	conflicting classifications of pathogenicity
rs759983497	11:1,249,873	C/T	—	uncertain significance
rs2494169012	11:1,249,889	C/A	—	uncertain significance
rs1295658849	11:1,249,947	G/A	—	uncertain significance
rs145446448	11:1,249,952	C/T	—	uncertain significance
rs986556354	11:1,249,953	G/A	—	uncertain significance
rs1320780857	11:1,249,960	G/T	—	uncertain significance
rs758598055	11:1,249,995	C/T	—	likely benign
rs2075856	11:1,250,175	A/G	—	benign
rs2735703	11:1,250,183	G/A	—	benign
rs2075857	11:1,250,221	A/G	—	benign
rs2075858	11:1,250,242	G/T	—	benign
rs2471912	11:1,250,384	A/G	—	benign
rs56325034	11:1,250,395	C/T	—	benign
rs2494170833	11:1,250,448	G/A	—	uncertain significance
rs530167412	11:1,250,451	C/T	—	uncertain significance
rs2075859	11:1,250,488	T/C	—	benign
rs55684014	11:1,250,583	C/T	—	benign
rs2075860	11:1,250,603	G/C	—	benign
rs2735706	11:1,250,679	C/T	—	benign
rs10832955	11:1,250,696	C/T	—	benign
rs2075861	11:1,250,803	G/A	—	benign
rs56069229	11:1,250,909	G/C	—	benign
rs759975789	11:1,250,988	G/A	—	uncertain significance
rs1206707149	11:1,251,030	A/C	—	uncertain significance
rs750488803	11:1,251,237	C/T	—	uncertain significance
rs2494173529	11:1,251,242	T/G	—	uncertain significance
rs2672810	11:1,251,301	C/T	—	benign
rs1481738092	11:1,251,303	G/A	—	uncertain significance
rs780894295	11:1,251,744	G/A	—	uncertain significance
rs765389427	11:1,251,782	C/T	—	likely benign
rs113225784	11:1,251,799	C/T	—	uncertain significance
rs116030616	11:1,251,800	G/A	—	benign
rs755621207	11:1,251,816	G/A	—	likely benign
rs754563136	11:1,251,822	G/A	—	uncertain significance
rs2672807	11:1,252,047	T/C	—	benign
rs377351415	11:1,252,192	C/T	—	likely benign
rs2494176284	11:1,252,208	A/G	—	uncertain significance
rs201605309	11:1,252,215	C/T	—	likely benign
rs761732321	11:1,252,230	C/T	—	uncertain significance
rs138440673	11:1,252,648	G/A	—	benign
rs2735709	11:1,252,708	G/C	—	benign
rs776649393	11:1,252,723	G/A	—	likely benign
rs2735711	11:1,253,136	C/T	—	benign
rs781420204	11:1,253,286	T/A	—	uncertain significance
rs745670933	11:1,253,295	C/T	—	uncertain significance
rs12421917	11:1,253,401	C/G	—	benign
rs201263128	11:1,253,719	C/T	—	uncertain significance
rs375586412	11:1,253,723	C/A	—	likely benign
rs774560752	11:1,253,736	C/T	—	uncertain significance
rs559579356	11:1,253,759	C/G	—	likely benign
rs765128605	11:1,253,769	C/T	—	uncertain significance
rs1318321	11:1,253,856	T/C	—	benign
rs371325506	11:1,253,905	G/A	—	uncertain significance
rs375985274	11:1,253,928	G/T	—	uncertain significance
rs760039942	11:1,253,929	C/T	—	uncertain significance
rs1010183975	11:1,253,935	C/A	—	uncertain significance
rs908229	11:1,253,942	T/C	—	benign
rs780161615	11:1,253,964	G/A	—	uncertain significance

Showing 100 of 993 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.