RGD:15197465 Rat Genome Database

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Variant: RGD:15197465 -  Homo sapiens

RGD ID: 15197465
RS ID: rs146537734
ClinVar ID: CV723833
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP21  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 127,461,231
GRCh38 10 125,772,662
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_147191.1:c.786C>T
NG_052815.1:g.8160C>T
NC_000010.11:g.125772662G>A
NC_000010.10:g.127461231G>A
More... 		09/17/2017 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MMP21
Accession:NM_147191
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAASIFRPTLLLCWLAAPWPTQPESLFHSRDRSDLEPSPLRQAKPIADLHAAQRFLSRYGWSGVWAAWGPSPEGPPETP
KGAALAEAVRRFQRANALPASGELDAATLAAMNRPRCGVPDMRPPPPSAPPSPPGPPPRARSRRSPRAPLSLSRRGWQPR
GYPDGGAAQAFSKRTLSWRLLGEALSSQLSVADQRRIVALAFRMWSEVTPLDFREDLAAPGAAVDIKLGFGRGRHLGCPR
AFDGSGQEFAHAWRLGDIHFDDDEHFTPPTSDTGISLLKVAVHEIGHVLGLPHTYRTGSIMQPNYIPQEPAFELDWSDRK
AIQKLYGSCEGSFDTAFDWIRKERNQYGEVMVRFSTYFFRNSWYWLYENRNNRTRYGDPIQILTGWPGIPTHNIDAFVHI
WTWKRDERYFFQGNQYWRYDSDKDQALTEDEQGKSYPKLISEGFPGIPSPLDTAFYDRRQKLIYFFKESLVFAFDVNRNR
VLNSYPKRITEVFPAVIPQNHPFRNIDSAYYSYAYNSIFFFKGNAYWKVVNDKDKQQNSWLPANGLFPKKFISEKWFDVC
DVHISTLNM*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000890065 CLINVAR
dbSNP (RS) rs146537734 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene MMP21 CLINVAR
OMIM 608416 CLINVAR