RGD:329399530 Rat Genome Database

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Variant: RGD:329399530 -  Homo sapiens

RGD ID: 329399530
ClinVar ID: CV2470140
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RNASET2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 167,343,098
GRCh38 6 166,929,610
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.749C>T
NG_016280.2:g.31980C>T
NC_000006.12:g.166929610G>A
NC_000006.11:g.167343098G>A
More... 		03/14/2023 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: P to L (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPAALRGALLGCLCLALLCLGGADKRLRDNHEWKKLIMVQHWPETVCEKIQNDCRDPPDYWTIHGLWPDKSEGCNRSWP
FNLEEIKDLLPEMRAYWPDVIHSFPNRSRFWKHEWEKHGTCAAQVDALNSQKKYFGRSLELYRELDLNSVLLKLGIKPSI
NYYQVADFKDALARVYGVIPKIQCLPPSQDEEVQTIGQIELCLTKQDQQLQNCTEPGEQPSPKQEVWLANGAAESRGLRV
CEDGPVFYPLPKKTKH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003220968 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene RNASET2 CLINVAR
OMIM 612944 CLINVAR