rs752810430 Rat Genome Database

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Variant: rs752810430 -  Homo sapiens

RGD ID: 13541246
RS ID: rs752810430
ClinVar ID: CV505611
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNHG14  UBE3A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 25,650,649
GRCh38 15 25,405,502
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354545.2:c.21A>G
NM_001354550.2:c.21A>G
NP_001341434.1:p.Arg7=
NP_001341479.1:p.Arg7=
More... 		08/01/2017 5 prime utr variant|intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:UBE3A
Accession:NM_001354549
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354523
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_130838
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354512
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354513
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354547
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001374461
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:XM_047433016
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354544
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354526
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:XM_047433018
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354540
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354541
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354542
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354508
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354507
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:XM_047433019
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354543
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354548
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:XM_047433017
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354539
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354511
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354546
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354506
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354509
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:NM_001354551
Location:5UTRS;INTRON

Gene Symbol:UBE3A
Accession:XM_017022548
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_017022547
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354545
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433007
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_130839
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433010
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354538
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433012
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433011
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354505
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_024450043
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433014
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_011521995
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433009
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433008
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433013
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_017022550
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433015
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354550
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_000462
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433020
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 RCV000615890 CLINVAR
dbSNP (RS) rs752810430 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SNHG14 CLINVAR
  UBE3A CLINVAR
OMIM 601623 CLINVAR
  616259 CLINVAR