LncRNA NameRP1–140A9.1
Variant TypeSNP
Variant IDrs549772338
Specieshuman
Circulating
Survival
CeRNA
Methylation
Enhancer
Drug
Disease/Traitcongenital cataract
LncRNA Target GeneGNB1
Tissuetissue
ExperimentqRT-PCR
Function DescriptionThe mutation has the potential to destroy exon/ intron splicing of both transcripts of RP1–140A9.1.
Pubmed ID30820140
Year2019
TitleA splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family
External Links
Links For RP1–140A9.1GeneCards HGNC NONCODE LncRNAWiki lncrnadb
Links For congenital cataractOMIM Cosmic
Links For rs549772338 dbSNP ClinVar OMIM