RGD:14721361 Rat Genome Database

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Variant: RGD:14721361 -  Homo sapiens

RGD ID: 14721361
RS ID: rs75606291
ClinVar ID: CV667678
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNHG14  UBE3A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 25,602,314
GRCh38 15 25,357,167
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354546.2:c.1577-271A>G
NM_001354506.2:c.1694-271A>G
NM_001354507.2:c.1694-271A>G
NM_001354508.2:c.1694-271A>G
More... 		06/14/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:UBE3A
Accession:XM_017022547
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354550
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354541
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433008
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354509
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354543
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_130838
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433017
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433020
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354551
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354545
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354507
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354505
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_024450043
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433010
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_017022550
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354508
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354549
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354548
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354540
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433012
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433007
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_017022548
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354523
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354539
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433015
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433013
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_130839
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354546
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354506
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_011521995
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354547
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354544
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001374461
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433009
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433019
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433014
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354512
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433016
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433011
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433018
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354542
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354513
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354526
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_000462
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354538
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354511
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433021
Location:INTRON

Gene Symbol:SNHG14
Accession:NR_146177
Location:INTRON;NON-CODING

Gene Symbol:UBE3A
Accession:NR_148916
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000831640 CLINVAR
dbSNP (RS) rs75606291 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SNHG14 CLINVAR
  UBE3A CLINVAR
OMIM 601623 CLINVAR
  616259 CLINVAR