Alternative Symbols
- PUM [HGNC]
- MCKD1 [HGNC]
- CD227 [HGNC]
- PEM [HGNC]
- ADMCKD [HGNC]
- ADMCKD1 [HGNC]
- MCKD [HGNC]
- MCD [HGNC]
Alternative Names
- medullary cystic kidney disease 1 (autosomal dominant) [HGNC]
- mucin 1, transmembrane [HGNC]
SNPs
| rsID | SNPedia | dbSNP | Chips | Special Name | Wild (plus) | Risk (plus) | Frequency | PubMed IDs |
|---|---|---|---|---|---|---|---|---|
| rs4072037 |  | | A45 | CC | C=0.414475 | 19238635 19924550 20700443 20729852 21070779 18518984 18619437 19578514 19961594 21147081 21427165 22037551 23065816 22938415 24069371 24072653 24551091 22740136 22805490 22995277 23199839 23199843 24755768 25503145 26129866 26320491 | ||
| rs11465205 | | A45 | TT | T=0.017202 | ||||
| rs199768496 | | | A5 | AA | GG | G=0.000028 | 31858233 | |
| rs183700327 | | | A5 | TT | CC | C=0.000188 | 31858233 | |
| rs11465206 | | A5 | AA | GG | G=0.010619 | |||
| rs148343502 | | A | CC | TT | T=0.000271 | |||
| rs1611772 | | 4 | GG | AA | A=0.020630 |
PubMed References
-
PMID:23396133 [HGNC,SNPedia]
PMID:24551091 [rs4072037]
PMID:24755768 [rs4072037]
PMID:24069371 [rs4072037]
PMID:22740136 [rs4072037]
PMID:21147081 [rs4072037]
PMID:20729852 [rs4072037]
PMID:19924550 [rs4072037]
PMID:20700443 [rs4072037]
PMID:31858233 [rs183700327,rs199768496]
PMID:19238635 [rs4072037]
PMID:22805490 [rs4072037]
PMID:19961594 [rs4072037]
PMID:18619437 [rs4072037]
PMID:18518984 [rs4072037]
PMID:22037551 [rs4072037]
PMID:26320491 [rs4072037]
PMID:24072653 [rs4072037]
PMID:19578514 [rs4072037]
PMID:25503145 [rs4072037]
PMID:26129866 [rs4072037]
PMID:1697589 [HGNC]
PMID:23065816 [rs4072037]
PMID:22995277 [rs4072037]
PMID:21070779 [rs4072037]
PMID:22938415 [rs4072037]
PMID:23199843 [rs4072037]
PMID:23199839 [rs4072037]
PMID:21427165 [rs4072037]
Other References
-
SNPedia=MUC1
EntrezGene=4582
PheGenI=4582
ClinVar=MUC1
GeneCards=MUC1
Wikipedia=MUC1
Google=MUC1
UniProt=P15941
Ensembl=ENSG00000185499
OMIM=158340