RGD:15165374 Rat Genome Database

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Variant: RGD:15165374 -  Homo sapiens

RGD ID: 15165374
RS ID: rs776922953
ClinVar ID: CV755297
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP15  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 58,073,872
GRCh38 16 58,039,968
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002428.4:c.534C>T
NC_000016.10:g.58039968C>T
NC_000016.9:g.58073872C>T
NM_002428.3:c.534C>T
More... 		05/31/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MMP15
Accession:NM_002428
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSDPSAPGRPGWTGSLLGDREEAARPRLLPLLLVLLGCLGLGVAAEDAEVHAENWLRLYGYLPQPSRHMSTMRSAQILA
SALAEMQRFYGIPVTGVLDEETKEWMKRPRCGVPDQFGVRVKANLRRRRKRYALTGRKWNNHHLTFSIQNYTEKLGWYHS
MEAVRRAFRVWEQATPLVFQEVPYEDIRLRRQKEADIMVLFASGFHGDSSPFDGTGGFLAHAYFPGPGLGGDTHFDADEP
WTFSSTDLHGNNLFLVAVHELGHALGLEHSSNPNAIMAPFYQWKDVDNFKLPEDDLRGIQQLYGTPDGQPQPTQPLPTVT
PRRPGRPDHRPPRPPQPPPPGGKPERPPKPGPPVQPRATERPDQYGPNICDGDFDTVAMLRGEMFVFKGRWFWRVRHNRV
LDNYPMPIGHFWRGLPGDISAAYERQDGRFVFFKGDRYWLFREANLEPGYPQPLTSYGLGIPYDRIDTAIWWEPTGHTFF
FQEDRYWRFNEETQRGDPGYPKPISVWQGIPASPKGAFLSNDAAYTYFYKGTKYWKFDNERLRMEPGYPKSILRDFMGCQ
EHVEPGPRWPDVARPPFNPHGGAEPGADSAEGDVGDGDGDFGAGVNKDGGSRVVVQMEEVARTVNVVMVLVPLLLLLCVL
GLTYALVQMQRKGAPRVLLYCKRSLQEWV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000926608 CLINVAR
dbSNP (RS) rs776922953 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene MMP15 CLINVAR
OMIM 602261 CLINVAR