RGD:28885515 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:28885515 -  Homo sapiens

RGD ID: 28885515
RS ID: rs372230531
ClinVar ID: CV887309
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SP110  SP140  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 231,074,631
GRCh38 2 230,209,916
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001378444.1:c.847+15T>C
NC_000002.12:g.230209916A>G
NM_004509.3:c.829+15T>C
NG_051286.1:g.11993A>G
More... 		04/30/2023 intron variant conflicting interpretations of pathogenicity|uncertain significance Hepatic Veno-occlusive Disease with Immunodeficiency; Hepatic venoocclusive disease with immunodeficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SP140
Accession:XM_047443073
Location:5UTRS;INTRON

Gene Symbol:SP140
Accession:XM_011510517
Location:5UTRS;INTRON

Gene Symbol:SP140
Accession:NM_001278452
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003245
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443072
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443079
Location:INTRON

Gene Symbol:SP110
Accession:NM_004509
Location:INTRON

Gene Symbol:SP140
Accession:XM_005246252
Location:INTRON

Gene Symbol:SP140
Accession:XM_011510518
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003242
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003250
Location:INTRON

Gene Symbol:SP110
Accession:XM_024452850
Location:INTRON

Gene Symbol:SP140
Accession:XM_005246253
Location:INTRON

Gene Symbol:SP140
Accession:XM_011510515
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003247
Location:INTRON

Gene Symbol:SP110
Accession:NM_001378443
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443080
Location:INTRON

Gene Symbol:SP110
Accession:NM_001378444
Location:INTRON

Gene Symbol:SP140
Accession:XM_005246256
Location:INTRON

Gene Symbol:SP140
Accession:XM_011510519
Location:INTRON

Gene Symbol:SP140
Accession:XM_006712223
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003243
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443076
Location:INTRON

Gene Symbol:SP110
Accession:NM_004510
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003249
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003246
Location:INTRON

Gene Symbol:SP110
Accession:NM_001378445
Location:INTRON

Gene Symbol:SP110
Accession:XM_047444120
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443074
Location:INTRON

Gene Symbol:SP110
Accession:XM_011511090
Location:INTRON

Gene Symbol:SP110
Accession:NM_001185015
Location:INTRON

Gene Symbol:SP140
Accession:NM_001278451
Location:INTRON

Gene Symbol:SP140
Accession:XM_005246254
Location:INTRON

Gene Symbol:SP140
Accession:XM_005246255
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003248
Location:INTRON

Gene Symbol:SP110
Accession:NM_001378447
Location:INTRON

Gene Symbol:SP110
Accession:NM_080424
Location:INTRON

Gene Symbol:SP110
Accession:XM_011511091
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003252
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003240
Location:INTRON

Gene Symbol:SP110
Accession:XM_017003969
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003239
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003253
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443077
Location:INTRON

Gene Symbol:SP140
Accession:XM_011510516
Location:INTRON

Gene Symbol:SP110
Accession:XM_017003968
Location:INTRON

Gene Symbol:SP110
Accession:XM_047444121
Location:INTRON

Gene Symbol:SP140
Accession:NM_001278453
Location:INTRON

Gene Symbol:SP110
Accession:XM_011511092
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443081
Location:INTRON

Gene Symbol:SP140
Accession:NM_007237
Location:INTRON

Gene Symbol:SP140
Accession:NM_001005176
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443078
Location:INTRON

Gene Symbol:SP140
Accession:XM_011510520
Location:INTRON

Gene Symbol:SP110
Accession:NM_001378446
Location:INTRON

Gene Symbol:SP110
Accession:NM_001378442
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001137538 CLINVAR
dbSNP (RS) rs372230531 CLINVAR
MedGen C1856128 CLINVAR
NCBI Gene SP110 CLINVAR
  SP140 CLINVAR
OMIM 235550 CLINVAR
  604457 CLINVAR
  608602 CLINVAR