RGD:11647213 Rat Genome Database

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Variant: RGD:11647213 -  Homo sapiens

RGD ID: 11647213
RS ID: rs886050616
ClinVar ID: CV338461
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 65,241,103
GRCh38 14 64,774,385
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.64774385G>A
NC_000014.8:g.65241103G>A
NG_016202.2:g.110508C>T
LRG_1130:g.110508C>T
More... 		06/14/2016 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_001024858
Location:INTRON

Gene Symbol:SPTB
Accession:XM_011537105
Location:INTRON

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_001355437
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431724
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431725
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000275113 CLINVAR
  RCV000367573 CLINVAR
dbSNP (RS) rs886050616 CLINVAR
MedGen C0427480 CLINVAR
  CN239455 CLINVAR
NCBI Gene SPTB CLINVAR
OMIM 182870 CLINVAR