rs116115813 Rat Genome Database

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Variant: rs116115813 -  Homo sapiens

RGD ID: 14737715
RS ID: rs116115813
ClinVar ID: CV666795
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL2A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 48,388,150
GRCh38 12 47,994,367
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033150.3:c.609+57C>T
NM_001844.5:c.816+57C>T
NG_008072.1:g.15136C>T
NC_000012.12:g.47994367G>A
More... 		06/16/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL2A1
Accession:XM_017018829
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_001844
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_033150
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018830
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018828
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_047428315
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018831
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000839047 CLINVAR
dbSNP (RS) rs116115813 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL2A1 CLINVAR
OMIM 120140 CLINVAR