Entrez Gene ID | 283463 |
---|---|
Official Gene Symbol | MUC19 (GeneCards) |
Full name | mucin 19, oligomeric |
Location | 12q12 |
Other ids | MIM : 612170 HGNC : HGNC:14362 |
Other names | MUC-19 |
Summary | This gene encodes a member of the gel-forming mucin protein family. Mucin family members are glycoproteins that have tandem repeats which are extensively O-glycosylated. The structural features of mucin proteins are responsible for the gel-like properties of mucus. The encoded protein may be involved in disruption of the ocular surface in Sjogren syndrome. [provided by RefSeq, Apr 2014] |
Found 7 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
16150 | 283463 | MUC19 | 12 | 40975870 | 40975870 | Asymptomatic | HiSeq 2000 |
16253 | 283463 | MUC19 | 12 | 40787320 | 40787320 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
16436 | 283463 | MUC19 | 12 | 41036613 | 41036613 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
16934 | 283463 | MUC19 | 12 | 40939419 | 40939419 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
16935 | 283463 | MUC19 | 12 | 41019901 | 41019901 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
16954 | 283463 | MUC19 | 12 | 41066935 | 41066935 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
16971 | 283463 | MUC19 | 12 | 40858237 | 40858237 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |