RGD:28898397 Rat Genome Database

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Variant: RGD:28898397 -  Homo sapiens

RGD ID: 28898397
RS ID: rs554909970
ClinVar ID: CV884182
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GIGYF2  KCNJ13  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 233,632,575
GRCh38 2 232,767,865
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016742.1:g.13701A>G
NC_000002.12:g.232767865T>C
NM_001172417.1:c.*326A>G
NM_001172416.1:c.*888A>G
More... 		01/12/2018 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNJ13
Accession:NM_001172417
Location:3UTRS;EXON

Gene Symbol:KCNJ13
Accession:NM_002242
Location:3UTRS;EXON

Gene Symbol:KCNJ13
Accession:NM_001172416
Location:3UTRS;EXON

Gene Symbol:KCNJ13
Accession:XM_047444253
Location:3UTRS;EXON

Gene Symbol:GIGYF2
Accession:NM_001103147
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_015575
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_001103146
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_001103148
Location:INTRON

Gene Symbol:GIGYF2
Accession:NR_103492
Location:INTRON;NON-CODING

Gene Symbol:GIGYF2
Accession:NR_103494
Location:INTRON;NON-CODING

Gene Symbol:GIGYF2
Accession:NR_103493
Location:INTRON;NON-CODING

Gene Symbol:GIGYF2
Accession:NR_103495
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001141965 CLINVAR
dbSNP (RS) rs554909970 CLINVAR
MedGen C3280062 CLINVAR
NCBI Gene GIGYF2 CLINVAR
  KCNJ13 CLINVAR
OMIM 603208 CLINVAR
  612003 CLINVAR
  614186 CLINVAR