Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
267010
Gene name Gene Name - the full gene name approved by the HGNC.
RNA, U12 small nuclear
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RNU12
Synonyms (NCBI Gene) Gene synonyms aliases
CDAGS, RNU12-1, RNU12L, RNU12P, SCAR33, dJ222E13.7
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.2
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
620204 19380 ENSG00000276027
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Febrile seizures Febrile Convulsions rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Unknown
Disease term Disease name Evidence References Source
Craniosynostosis craniosynostosis-anal anomalies-porokeratosis syndrome GenCC