RGD:15192874 Rat Genome Database

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Variant: RGD:15192874 -  Homo sapiens

RGD ID: 15192874
RS ID: rs782702129
ClinVar ID: CV737703
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 102,708,057
GRCh38 11 102,837,326
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.1305A>G
NG_012100.1:g.11286A>G
NC_000011.10:g.102837326T>C
NC_000011.9:g.102708057T>C
More... 		05/17/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MMP3
Accession:NM_002422
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 435
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSLPILLLLCVAVCSAYPLDGAARGEDTSMNLVQKYLENYYDLKKDVKQFVRRKDSGPVVKKIREMQKFLGLEVTGKLD
SDTLEVMRKPRCGVPDVGHFRTFPGIPKWRKTHLTYRIVNYTPDLPKDAVDSAVEKALKVWEEVTPLTFSRLYEGEADIM
ISFAVREHGDFYPFDGPGNVLAHAYAPGPGINGDAHFDDDEQWTKDTTGTNLFLVAAHEIGHSLGLFHSANTEALMYPLY
HSLTDLTRFRLSQDDINGIQSLYGPPPDSPETPLVPTEPVPPEPGTPANCDPALSFDAVSTLRGEILIFKDRHFWRKSLR
KLEPELHLISSFWPSLPSGVDAAYEVTSKDLVFIFKGNQFWAIRGNEVRAGYPRGIHTLGFPPTVRKIDAAISDKEKNKT
YFFVEDKYWRFDEKRNSMEPGFPKQIAEDFPGIDSKIDAVFEEFGFFYFFTGSSQLEFDPNAKKVTHTLKSNSWLNC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000910672 CLINVAR
dbSNP (RS) rs782702129 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene MMP3 CLINVAR
OMIM 185250 CLINVAR