rs1322709861 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 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
Advanced Search (OLGA)

Variant: rs1322709861 -  Homo sapiens

RGD ID: 14744315
RS ID: rs1322709861
ClinVar ID: CV670954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALAS2  LOC108663984  PAGE2B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 55,057,360
GRCh38 X 55,030,927
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000032.5:c.-16+15C>T
NM_001037967.4:c.-16+15C>T
NM_001037968.4:c.-51+15C>T
NG_008983.1:g.5138C>T
More... 		05/09/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PAGE2B
Accession:XM_011530786
Location:5UTRS;EXON

Gene Symbol:ALAS2
Accession:NM_000032
Location:5UTRS;INTRON

Gene Symbol:ALAS2
Accession:NM_001037968
Location:5UTRS;INTRON

Gene Symbol:ALAS2
Accession:NM_001037967
Location:5UTRS;INTRON

Gene Symbol:PAGE2B
Accession:NM_001015038
Location:INTRON

Gene Symbol:PAGE2B
Accession:XM_011530787
Location:INTRON

Gene Symbol:PAGE2B
Accession:XM_011530785
Location:INTRON

Gene Symbol:PAGE2B
Accession:XM_017029513
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000842671 CLINVAR
dbSNP (RS) rs1322709861 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene 108663984 CLINVAR
  ALAS2 CLINVAR
  PAGE2B CLINVAR
OMIM 301300 CLINVAR