rs542541481 Rat Genome Database

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Variant: rs542541481 -  Homo sapiens

RGD ID: 150452326
RS ID: rs542541481
ClinVar ID: CV1205512
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,714,563
GRCh38 9 134,822,717
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737t2:c.4609-281T>G
NG_008030.1:g.185912T>G
NC_000009.12:g.134822717T>G
NC_000009.11:g.137714563T>G
More... 		08/25/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:LOC101448202
Accession:NR_103451
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001585413 CLINVAR
dbSNP (RS) rs542541481 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
  LOC101448202 CLINVAR
OMIM 120215 CLINVAR