RGD:15134529 Rat Genome Database

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Variant: RGD:15134529 -  Homo sapiens

RGD ID: 15134529
RS ID: rs200504966
ClinVar ID: CV744420
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL27A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 116,968,583
GRCh38 9 114,206,303
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032888.4:c.2268+7G>A
NG_034260.1:g.55759G>A
NC_000009.12:g.114206303G>A
NC_000009.11:g.116968583G>A
More... 		02/27/2019 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL27A1
Accession:XM_006717310
Location:5UTRS;INTRON

Gene Symbol:COL27A1
Accession:NM_032888
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_006717308
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_011519138
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_011519142
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_011519143
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_011519144
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_011519140
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_011519145
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_017015239
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_047423992
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_047423993
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_047423994
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_047423995
Location:INTRON

Gene Symbol:COL27A1
Accession:XR_929860
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000898305 CLINVAR
dbSNP (RS) rs200504966 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL27A1 CLINVAR
OMIM 608461 CLINVAR