RGD:28892737 Rat Genome Database

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Variant: RGD:28892737 -  Homo sapiens

RGD ID: 28892737
RS ID: rs1392610505
ClinVar ID: CV875488
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 55,513,506
GRCh38 16 55,479,594
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008989.1:g.5426G>A
NC_000016.9:g.55513506G>A
NM_004530.4:c.115G>A
NP_004521.1:p.Gly39Ser
More... 		04/27/2017 intron variant uncertain significance Osteolysis, hereditary multicentric; Winchester-Grossman syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MMP2
Accession:NM_001302508
Location:5UTRS;INTRON

Gene Symbol:MMP2
Accession:NM_004530
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEALMARGALTGPLRALCLLGCLLSHAAAAPSPIIKFPSDVAPKTDKELAVQYLNTFYGCPKESCNLFVLKDTLKKMQKF
FGLPQTGDLDQNTIETMRKPRCGNPDVANYNFFPRKPKWDKNQITYRIIGYTPDLDPETVDDAFARAFQVWSDVTPLRFS
RIHDGEADIMINFGRWEHGDGYPFDGKDGLLAHAFAPGTGVGGDSHFDDDELWTLGEGQVVRVKYGNADGEYCKFPFLFN
GKEYNSCTDTGRSDGFLWCSTTYNFEKDGKYGFCPHEALFTMGGNAEGQPCKFPFRFQGTSYDSCTTEGRTDGYRWCGTT
EDYDRDKKYGFCPETAMSTVGGNSEGAPCVFPFTFLGNKYESCTSAGRSDGKMWCATTANYDDDRKWGFCPDQGYSLFLV
AAHEFGHAMGLEHSQDPGALMAPIYTYTKNFRLSQDDIKGIQELYGASPDIDLGTGPTPTLGPVTPEICKQDIVFDGIAQ
IRGEIFFFKDRFIWRTVTPRDKPMGPLLVATFWPELPEKIDAVYEAPQEEKAVFFAGNEYWIYSASTLERGYPKPLTSLG
LPPDVQRVDAAFNWSKNKKTYIFAGDKFWRYNEVKKKMDPGFPKLIADAWNAIPDNLDAVVDLQGGGHSYFFKGAYYLKL
ENQSLKSVKFGSIKSDWLGC*

Gene Symbol:MMP2
Accession:NM_001127891
Location:INTRON

Gene Symbol:MMP2
Accession:NM_001302509
Location:INTRON

Gene Symbol:MMP2
Accession:NM_001302510
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001121448 CLINVAR
dbSNP (RS) rs1392610505 CLINVAR
MedGen C1850155 CLINVAR
NCBI Gene MMP2 CLINVAR
OMIM 120360 CLINVAR
SNOMED CT 716868003 CLINVAR