RGD:11582828 Rat Genome Database

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Variant: RGD:11582828 -  Homo sapiens

RGD ID: 11582828
RS ID: rs186892978
ClinVar ID: CV277606
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR10Z1  SPTA1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 158,580,986
GRCh38 1 158,611,196
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003126.2:c.*68C>G
NG_011474.1:g.80521C>G
NC_000001.11:g.158611196G>C
NC_000001.10:g.158580986G>C
More... 		01/13/2018 3 prime utr variant likely benign|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:XM_047428883
Location:3UTRS;EXON

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

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

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

Gene Symbol:SPTA1
Accession:NM_003126
Location:3UTRS;EXON

Gene Symbol:SPTA1
Accession:XM_011509919
Location:INTRON

Gene Symbol:SPTA1
Accession:XM_047428888
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 RCV000262559 CLINVAR
  RCV000331748 CLINVAR
  RCV000375773 CLINVAR
dbSNP (RS) rs186892978 CLINVAR
MedGen C0520739 CLINVAR
  C1851741 CLINVAR
  C2678338 CLINVAR
NCBI Gene OR10Z1 CLINVAR
  SPTA1 CLINVAR
OMIM 130600 CLINVAR
  182860 CLINVAR
  266140 CLINVAR
  270970 CLINVAR