RGD:15161370 Rat Genome Database

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Variant: RGD:15161370 -  Homo sapiens

RGD ID: 15161370
RS ID: rs78924165
ClinVar ID: CV703540
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC125146373  RPS2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 2,014,489
GRCh38 16 1,964,488
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002952.4:c.138A>G
NC_000016.10:g.1964488T>C
NC_000016.9:g.2014489T>C
NM_002952.3:c.138A>G
More... 		06/21/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RPS2
Accession:NM_002952
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADDAGAAGGPGGPGGPGMGNRGGFRGGFGSGIRGRGRGRGRGRGRGRGARGGKAEDKEWMPVTKLGRLVKDMKIKSLEE
IYLFSLPIKESEIIDFFLGASLKDEVLKIMPVQKQTRAGQRTRFKAFVAIGDYNGHVGLGVKCSKEVATAIRGAIILAKL
SIVPVRRGYWGNKIGKPHTVPCKVTGRCGSVLVRLIPAPRGTGIVSAPVPKKLLMMAGIDDCYTSARGCTATLGNFAKAT
FDAISKTYSYLTPDLWKETVFTKSPYQEFTDHLVKTHTRVSVQRTQAPAVATT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000947660 CLINVAR
dbSNP (RS) rs78924165 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RPS2 CLINVAR
OMIM 603624 CLINVAR