RGD:150473391 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:150473391 -  Homo sapiens

RGD ID: 150473391
RS ID: rs2239453
ClinVar ID: CV1234271
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC35A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 48,760,793
GRCh38 X 48,903,516
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001042498.3:c.*1211G>A
NM_001282649.2:c.*1211G>A
NM_001282650.2:c.*1211G>A
NM_001282651.2:c.*1211G>A
More...
06/23/2018 3 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC35A2
Accession:NM_001042498
Location:3UTRS;EXON

Gene Symbol:SLC35A2
Accession:NM_001282649
Location:3UTRS;EXON

Gene Symbol:SLC35A2
Accession:NM_001282651
Location:3UTRS;EXON

Gene Symbol:SLC35A2
Accession:NM_001282650
Location:3UTRS;EXON

Gene Symbol:SLC35A2
Accession:NM_005660
Location:INTRON

Gene Symbol:SLC35A2
Accession:NM_001032289
Location:INTRON

Gene Symbol:SLC35A2
Accession:NM_001282647
Location:INTRON

Gene Symbol:SLC35A2
Accession:NM_001282648
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001651590 CLINVAR
dbSNP (RS) rs2239453 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC35A2 CLINVAR
OMIM 314375 CLINVAR