RGD:15130205 Rat Genome Database

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Variant: RGD:15130205 -  Homo sapiens

RGD ID: 15130205
RS ID: rs45437897
ClinVar ID: CV717012
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP9  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 44,640,229
GRCh38 20 46,011,590
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004994.3:c.840C>T
NG_011468.1:g.7683C>T
NC_000020.11:g.46011590C>T
NC_000020.10:g.44640229C>T
More... 		10/18/2018 synonymous variant benign Metaphyseal anadysplasia 2, autosomal recessive; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MMP9
Accession:NM_004994
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLWQPLVLVLLVLGCCFAAPRQRQSTLVLFPGDLRTNLTDRQLAEEYLYRYGYTRVAEMRGESKSLGPALLLLQKQLSL
PETGELDSATLKAMRTPRCGVPDLGRFQTFEGDLKWHHHNITYWIQNYSEDLPRAVIDDAFARAFALWSAVTPLTFTRVY
SRDADIVIQFGVAEHGDGYPFDGKDGLLAHAFPPGPGIQGDAHFDDDELWSLGKGVVVPTRFGNADGAACHFPFIFEGRS
YSACTTDGRSDGLPWCSTTANYDTDDRFGFCPSERLYTQDGNADGKPCQFPFIFQGQSYSACTTDGRSDGYRWCATTANY
DRDKLFGFCPTRADSTVMGGNSAGELCVFPFTFLGKEYSTCTSEGRGDGRLWCATTSNFDSDKKWGFCPDQGYSLFLVAA
HEFGHALGLDHSSVPEALMYPMYRFTEGPPLHKDDVNGIRHLYGPRPEPEPRPPTTTTPQPTAPPTVCPTGPPTVHPSER
PTAGPTGPPSAGPTGPPTAGPSTATTVPLSPVDDACNVNIFDAIAEIGNQLYLFKDGKYWRFSEGRGSRPQGPFLIADKW
PALPRKLDSVFEERLSKKLFFFSGRQVWVYTGASVLGPRRLDKLGLGADVAQVTGALRSGRGKMLLFSGRRLWRFDVKAQ
MVDPRSASEVDRMFPGVPLDTHDVFQYREKAYFCQDRFYWRVSSRSELNQVDQVGYVTYDILQCPED*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000964394 CLINVAR
  RCV001138555 CLINVAR
  RCV003935982 CLINVAR
dbSNP (RS) rs45437897 CLINVAR
MedGen C2751322 CLINVAR
  C3661900 CLINVAR
NCBI Gene MMP9 CLINVAR
OMIM 120361 CLINVAR
  613073 CLINVAR