RGD:15099572 Rat Genome Database

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Variant: RGD:15099572 -  Homo sapiens

RGD ID: 15099572
RS ID: rs1212022673
ClinVar ID: CV786129
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNA11  LOC127890021  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 3,094,763
GRCh38 19 3,094,765
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002067.5:c.114C>G
NG_033852.2:g.5356C>G
NC_000019.10:g.3094765C>G
NC_000019.9:g.3094763C>G
More... 		10/09/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GNA11
Accession:NM_002067
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLESMMACCLSDEVKESKRINAEIEKQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGAGYSEEDKRGFTKLVY
QNIFTAMQAMIRAMETLKILYKYEQNKANALLIREVDVEKVTTFEHQYVSAIKTLWEDPGIQECYDRRREYQLSDSAKYY
LTDVDRIATLGYLPTQQDVLRVRVPTTGIIEYPFDLENIIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLV
ESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEDKILYSHLVDYFPEFDGPQRDAQAAREFILKMFVDLNPDS
DKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000975277 CLINVAR
dbSNP (RS) rs1212022673 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GNA11 CLINVAR
OMIM 139313 CLINVAR