rs886049450 Rat Genome Database

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Variant: rs886049450 -  Homo sapiens

RGD ID: 11659057
RS ID: rs886049450
ClinVar ID: CV325023
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL2A1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 48,398,119
GRCh38 12 48,004,336
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008072.1:g.5167G>T
NC_000012.12:g.48004336C>A
NC_000012.11:g.48398119C>A
NM_001844.4:c.-15G>T
More... 		01/12/2018 5 prime utr variant uncertain significance Arthroophthalmopathy, hereditary progressive; Stickler syndrome, membranous vitreous type; Stickler syndrome, vitreous type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL2A1
Accession:NM_033150
Location:5UTRS;EXON

Gene Symbol:COL2A1
Accession:NM_001844
Location:5UTRS;EXON

Gene Symbol:COL2A1
Accession:XM_047428315
Location:5UTRS;INTRON

Gene Symbol:COL2A1
Accession:XM_017018830
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018828
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018829
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018831
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000354551 CLINVAR
  RCV000397426 CLINVAR
dbSNP (RS) rs886049450 CLINVAR
MedGen C2020284 CLINVAR
  CN043672 CLINVAR
NCBI Gene COL2A1 CLINVAR
OMIM 108300 CLINVAR
  120140 CLINVAR