RGD:15157142 Rat Genome Database

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Variant: RGD:15157142 -  Homo sapiens

RGD ID: 15157142
RS ID: rs148699109
ClinVar ID: CV720103
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYN2  TIMP4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 12,200,278
GRCh38 3 12,158,778
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003178.6:c.775-2768C>T
NM_003256.4:c.63G>A
NM_133625.6:c.775-2768C>T
NG_011728.2:g.159391C>T
More... 		03/08/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TIMP4
Accession:NM_003256
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGSPRPAPSWVLLLRLLALLRPPGLGEACSCAPAHPQQHICHSALVIRAKISSEKVVPASADPADTEKMLRYEIKQIKM
FKGFEKVKDVQYIYTPFDSSLCGVKLEANSQKQYLLTGQVLSDGKVFIHLCNYIEPWEDLSLVQRESLNHHYHLNCGCQI
TTCYTVPCTISAPNECLWTDWLLERKLYGYQAQHYVCMKHVDGTCSWYRGHLPLRKEFVDIVQP*

Gene Symbol:SYN2
Accession:NM_133625
Location:INTRON

Gene Symbol:SYN2
Accession:XM_017007087
Location:INTRON

Gene Symbol:SYN2
Accession:XM_006713312
Location:INTRON

Gene Symbol:SYN2
Accession:XM_006713311
Location:INTRON

Gene Symbol:SYN2
Accession:XM_006713313
Location:INTRON

Gene Symbol:SYN2
Accession:NM_003178
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000880765 CLINVAR
dbSNP (RS) rs148699109 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SYN2 CLINVAR
  TIMP4 CLINVAR
OMIM 600755 CLINVAR
  601915 CLINVAR