RGD:28877938 Rat Genome Database

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Variant: RGD:28877938 -  Homo sapiens

RGD ID: 28877938
RS ID: rs911168436
ClinVar ID: CV861625
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RNASET2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 167,369,649
GRCh38 6 166,956,161
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003730.6:c.22G>A
NG_016280.2:g.5429G>A
NC_000006.11:g.167369649C>T
NM_003730.4:c.22G>A
More... 		01/13/2020 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RNASET2
Accession:NM_003730
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPAALRRALLGCLCLALLCLGGADKRLRDNHEWKKLIMVQHWPETVCEKIQNDCRDPPDYWTIHGLWPDKSEGCNRSWP
FNLEEIKDLLPEMRAYWPDVIHSFPNRSRFWKHEWEKHGTCAAQVDALNSQKKYFGRSLELYRELDLNSVLLKLGIKPSI
NYYQVADFKDALARVYGVIPKIQCLPPSQDEEVQTIGQIELCLTKQDQQLQNCTEPGEQPSPKQEVWLANGAAESRGLRV
CEDGPVFYPPPKKTKH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001095751 CLINVAR
dbSNP (RS) rs911168436 CLINVAR
MedGen C2751843 CLINVAR
NCBI Gene RNASET2 CLINVAR
OMIM 612944 CLINVAR
  612951 CLINVAR