RGD:11588177 Rat Genome Database

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Variant: RGD:11588177 -  Homo sapiens

RGD ID: 11588177
RS ID: rs61052002
ClinVar ID: CV283057
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: AGPS  
Reference Nucleotide: -
Variant Nucleotide: AGAA
Position
Assembly Chr Position
GRCh37 2 178,404,735
GRCh38 2 177,540,007
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008968.1:g.152267_152268insAGAA
NC_000002.12:g.177540009_177540010insAGAA
NC_000002.11:g.178404737_178404738insAGAA
NM_003659.4:c.*1814_*1815insAGAA
More... 		06/14/2016 3 prime utr variant benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AGPS
Accession:XM_011512041
Location:3UTRS;EXON

Gene Symbol:AGPS
Accession:NM_003659
Location:3UTRS;EXON

Gene Symbol:AGPS
Accession:XM_047446104
Location:3UTRS;EXON

Gene Symbol:AGPS
Accession:XM_047446105
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000300781 CLINVAR
dbSNP (RS) rs61052002 CLINVAR
MedGen C0282529 CLINVAR
NCBI Gene AGPS CLINVAR
OMIM 603051 CLINVAR
SNOMED CT 56692003 CLINVAR