rs1565684864 Rat Genome Database

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Variant: rs1565684864 -  Homo sapiens

RGD ID: 13836503
RS ID: rs1565684864
ClinVar ID: CV587778
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL2A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 48,381,493
GRCh38 12 47,987,710
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.21793G>A
NC_000012.12:g.47987710C>T
NC_000012.11:g.48381493C>T
NM_001844.5:c.1123-1G>A
More... 		04/17/2018 splice acceptor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:COL2A1
Accession:NM_033150
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

Gene Symbol:COL2A1
Accession:XM_017018830
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_001844
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018829
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000732636 CLINVAR
dbSNP (RS) rs1565684864 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene COL2A1 CLINVAR
OMIM 120140 CLINVAR