RGD:11600819 Rat Genome Database

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Variant: RGD:11600819 -  Homo sapiens

RGD ID: 11600819
RS ID: rs543583423
ClinVar ID: CV320932
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127827764  SPTB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 65,233,193
GRCh38 14 64,766,475
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.9:g.64766475C>T
NC_000014.8:g.65233193C>T
NG_016202.2:g.118418G>A
NM_001024858.4:c.6345+251G>A
More... 		06/14/2016 3 prime utr variant|intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Elliptocytosis  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:SPTB
Accession:NM_001355437
Location:3UTRS;EXON

Gene Symbol:SPTB
Accession:XM_017021612
Location:INTRON

Gene Symbol:SPTB
Accession:XM_024449699
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001355436
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001024858
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431724
Location:INTRON

Gene Symbol:SPTB
Accession:XM_011537105
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431725
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000276822 CLINVAR
  RCV000371404 CLINVAR
dbSNP (RS) rs543583423 CLINVAR
MedGen C0427480 CLINVAR
  CN239455 CLINVAR
NCBI Gene SPTB CLINVAR
OMIM 182870 CLINVAR