RGD:15165748 Rat Genome Database

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Variant: RGD:15165748 -  Homo sapiens

RGD ID: 15165748
RS ID: rs113453592
ClinVar ID: CV712564
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP3  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 102,713,183
GRCh38 11 102,842,452
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.478A>T
NG_012100.1:g.6160A>T
NC_000011.10:g.102842452T>A
NC_000011.9:g.102713183T>A
More... 		04/24/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MMP3
Accession:NM_002422
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSLPILLLLCVAVCSAYPLDGAARGEDTSMNLVQKYLENYYDLKKDVKQFVRRKDSGPVVKKIREMQKFLGLEVTGKLD
SDTLEVMRKPRCGVPDVGHFRTFPGIPKWRKTHLTYRIVNYTPDLPKDAVDSAVEKALKVWEEVTPLTFSRLYEGEADIL
ISFAVREHGDFYPFDGPGNVLAHAYAPGPGINGDAHFDDDEQWTKDTTGTNLFLVAAHEIGHSLGLFHSANTEALMYPLY
HSLTDLTRFRLSQDDINGIQSLYGPPPDSPETPLVPTEPVPPEPGTPANCDPALSFDAVSTLRGEILIFKDRHFWRKSLR
KLEPELHLISSFWPSLPSGVDAAYEVTSKDLVFIFKGNQFWAIRGNEVRAGYPRGIHTLGFPPTVRKIDAAISDKEKNKT
YFFVEDKYWRFDEKRNSMEPGFPKQIAEDFPGIDSKIDAVFEEFGFFYFFTGSSQLEFDPNAKKVTHTLKSNSWLNC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000971018 CLINVAR
dbSNP (RS) rs113453592 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MMP3 CLINVAR
OMIM 185250 CLINVAR