RGD:15139941 Rat Genome Database

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Variant: RGD:15139941 -  Homo sapiens

RGD ID: 15139941
RS ID: rs536732632
ClinVar ID: CV689200
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDF5  GDF5-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 34,022,184
GRCh38 20 35,434,386
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000020.10:g.34022184C>T
NM_000557.5:c.1029G>A
NM_001319138.2:c.1029G>A
NG_008076.3:g.25361G>A
More... 		05/16/2018 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GDF5
Accession:NM_000557
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLPKLLTFLLWYLAWLDLEFICTVLGAPDLGQRPQGTRPGLAKAEAKERPPLARNVFRPGGHSYGGGATNANARAKGGT
GQTGGLTQPKKDEPKKLPPRPGGPEPKPGHPPQTRQATARTVTPKGQLPGGKAPPKAGSVPSSFLLKKAREPGPPREPKE
PFRPPPITPHEYMLSLYRTLSDADRKGGNSSVKLEAGLANTITSFIDKGQDDRGPVVRKQRYVFDISALEKDGLLGAELR
ILRKKPSDTAKPAAPGGGRAAQLKLSSCPSGRQPAALLDVRSVPGLDGSGWEVFDIWKLFRNFKNSAQLCLELEAWERGR
AVDLRGLGFDRAARQVHEKALFLVFGRTKKRDLFFNEIKARSGQDDKTVYEYLFSQRRKRRAPLATRQGKRPSKNLKARC
SRKALHVNFKDMGWDDWIIAPLEYEAFHCEGLCEFPLRSHLEPTNHAVIQTLMNSMDPESTPPTCCVPTRLSPISILFID
SANNVVYKQYEDMVVESCGCR*

Gene Symbol:GDF5
Accession:NM_001319138
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLPKLLTFLLWYLAWLDLEFICTVLGAPDLGQRPQGTRPGLAKAEAKERPPLARNVFRPGGHSYGGGATNANARAKGGT
GQTGGLTQPKKDEPKKLPPRPGGPEPKPGHPPQTRQATARTVTPKGQLPGGKAPPKAGSVPSSFLLKKAREPGPPREPKE
PFRPPPITPHEYMLSLYRTLSDADRKGGNSSVKLEAGLANTITSFIDKGQDDRGPVVRKQRYVFDISALEKDGLLGAELR
ILRKKPSDTAKPAAPGGGRAAQLKLSSCPSGRQPAALLDVRSVPGLDGSGWEVFDIWKLFRNFKNSAQLCLELEAWERGR
AVDLRGLGFDRAARQVHEKALFLVFGRTKKRDLFFNEIKARSGQDDKTVYEYLFSQRRKRRAPLATRQGKRPSKNLKARC
SRKALHVNFKDMGWDDWIIAPLEYEAFHCEGLCEFPLRSHLEPTNHAVIQTLMNSMDPESTPPTCCVPTRLSPISILFID
SANNVVYKQYEDMVVESCGCR*

Gene Symbol:GDF5-AS1
Accession:NR_161326
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000865089 CLINVAR
dbSNP (RS) rs536732632 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GDF5 CLINVAR
  GDF5-AS1 CLINVAR
OMIM 601146 CLINVAR