RGD:401777114 Rat Genome Database

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Variant: RGD:401777114 -  Homo sapiens

RGD ID: 401777114
ClinVar ID: CV2721611
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 102,709,921
GRCh38 11 102,839,190
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002422.5:c.989C>A
NG_012100.1:g.9422C>A
NC_000011.10:g.102839190G>T
NC_000011.9:g.102709921G>T
More... 		05/24/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MMP3
Accession:NM_002422
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 330
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSLPILLLLCVAVCSAYPLDGAARGEDTSMNLVQKYLENYYDLKKDVKQFVRRKDSGPVVKKIREMQKFLGLEVTGKLD
SDTLEVMRKPRCGVPDVGHFRTFPGIPKWRKTHLTYRIVNYTPDLPKDAVDSAVEKALKVWEEVTPLTFSRLYEGEADIM
ISFAVREHGDFYPFDGPGNVLAHAYAPGPGINGDAHFDDDEQWTKDTTGTNLFLVAAHEIGHSLGLFHSANTEALMYPLY
HSLTDLTRFRLSQDDINGIQSLYGPPPDSPETPLVPTEPVPPEPGTPANCDPALSFDAVSTLRGEILIFKDRHFWRKSLR
KLEPELHLIYSFWPSLPSGVDAAYEVTSKDLVFIFKGNQFWAIRGNEVRAGYPRGIHTLGFPPTVRKIDAAISDKEKNKT
YFFVEDKYWRFDEKRNSMEPGFPKQIAEDFPGIDSKIDAVFEEFGFFYFFTGSSQLEFDPNAKKVTHTLKSNSWLNC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003263454 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene MMP3 CLINVAR
OMIM 185250 CLINVAR