RGD:28890882 Rat Genome Database

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Variant: RGD:28890882 -  Homo sapiens

RGD ID: 28890882
RS ID: rs561434223
ClinVar ID: CV862457
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR10Z1  SPTA1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 158,580,735
GRCh38 1 158,610,945
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1131:g.80772C>T
NG_011474.1:g.80772C>T
NC_000001.11:g.158610945G>A
NM_003126.4:c.*319C>T
More... 		01/12/2018 3 prime utr variant uncertain significance ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE; Pyropoikilocytosis; SPTA1-Related Spherocytosis
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SPTA1
Accession:NM_003126
Location:3UTRS;EXON

Gene Symbol:SPTA1
Accession:XM_011509916
Location:3UTRS;EXON

Gene Symbol:SPTA1
Accession:XM_047428883
Location:3UTRS;EXON

Gene Symbol:OR10Z1
Accession:NM_001004478
Location:3UTRS;EXON

Gene Symbol:SPTA1
Accession:XM_011509917
Location:3UTRS;EXON

Gene Symbol:SPTA1
Accession:XM_047428888
Location:INTRON

Gene Symbol:SPTA1
Accession:XM_011509919
Location:INTRON

Gene Symbol:SPTA1
Accession:XM_011509918
Location:INTRON

Gene Symbol:SPTA1
Accession:XR_921911
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001099970 CLINVAR
  RCV001099971 CLINVAR
  RCV001099972 CLINVAR
dbSNP (RS) rs561434223 CLINVAR
MedGen C0520739 CLINVAR
  C1851741 CLINVAR
  C2678338 CLINVAR
NCBI Gene OR10Z1 CLINVAR
  SPTA1 CLINVAR
OMIM 130600 CLINVAR
  182860 CLINVAR
  266140 CLINVAR
  270970 CLINVAR