rs200306755 Rat Genome Database

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Variant: rs200306755 -  Homo sapiens

RGD ID: 11602971
RS ID: rs200306755
ClinVar ID: CV319804
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: INS  INS-IGF2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 2,181,080
GRCh38 11 2,159,850
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007114.1:g.6345C>T
NC_000011.10:g.2159850G>A
NC_000011.9:g.2181080G>A
NM_000207.3:c.*2C>T
More... 		01/12/2018 3 prime utr variant benign|likely benign|uncertain significance
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:INS
Accession:NM_000207
Location:3UTRS;EXON

Gene Symbol:INS
Accession:NM_001185097
Location:3UTRS;EXON

Gene Symbol:INS
Accession:NM_001185098
Location:3UTRS;EXON

Gene Symbol:INS
Accession:NM_001291897
Location:3UTRS;EXON

Gene Symbol:INS-IGF2
Accession:NM_001042376
Location:INTRON

Gene Symbol:INS-IGF2
Accession:NR_003512
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:11921414   PMID:18171712   PMID:25542748   PMID:26101329  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000295736 CLINVAR
  RCV000380688 CLINVAR
  RCV002464163 CLINVAR
dbSNP (RS) rs200306755 CLINVAR
MedGen C3150617 CLINVAR
  C3278636 CLINVAR
  CN239353 CLINVAR
NCBI Gene INS CLINVAR
  INS-IGF2 CLINVAR
OMIM 176730 CLINVAR
  613370 CLINVAR