RGD:153302641 Rat Genome Database

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Variant: RGD:153302641 -  Homo sapiens

RGD ID: 153302641
RS ID: rs2139637785
ClinVar ID: CV1686054
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 65,270,520
GRCh38 14 64,803,802
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1130:g.81091G>A
NG_016202.2:g.81091G>A
LRG_1130t1:c.301-22G>A
LRG_1130t2:c.301-22G>A
More... 		11/04/2022 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SPTB
Accession:XM_011537105
Location:INTRON

Gene Symbol:SPTB
Accession:XM_017021612
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431724
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001355437
Location:INTRON

Gene Symbol:SPTB
Accession:XM_024449699
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001355436
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431725
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001024858
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002261487 CLINVAR
dbSNP (RS) rs2139637785 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SPTB CLINVAR
OMIM 182870 CLINVAR