RGD:15109156 Rat Genome Database

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Variant: RGD:15109156 -  Homo sapiens

RGD ID: 15109156
RS ID: rs184572250
ClinVar ID: CV710328
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RNASET2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 167,360,224
GRCh38 6 166,946,736
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.166946736G>A
NC_000006.11:g.167360224G>A
NM_003730.4:c.207C>T
NP_003721.2:p.Pro69=
More... 		07/26/2022 synonymous variant likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RNASET2
Accession:NM_003730
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPAALRGALLGCLCLALLCLGGADKRLRDNHEWKKLIMVQHWPETVCEKIQNDCRDPPDYWTIHGLWPDKSEGCNRSWP
FNLEEIKDLLPEMRAYWPDVIHSFPNRSRFWKHEWEKHGTCAAQVDALNSQKKYFGRSLELYRELDLNSVLLKLGIKPSI
NYYQVADFKDALARVYGVIPKIQCLPPSQDEEVQTIGQIELCLTKQDQQLQNCTEPGEQPSPKQEVWLANGAAESRGLRV
CEDGPVFYPPPKKTKH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000960641 CLINVAR
  RCV001154609 CLINVAR
dbSNP (RS) rs184572250 CLINVAR
MedGen C2751843 CLINVAR
  C3661900 CLINVAR
NCBI Gene RNASET2 CLINVAR
OMIM 612944 CLINVAR
  612951 CLINVAR