RGD:156049292 Rat Genome Database

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Variant: RGD:156049292 -  Homo sapiens

RGD ID: 156049292
ClinVar ID: CV1974299
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RNASET2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 167,343,179
GRCh38 6 166,929,691
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.668A>C
NG_016280.2:g.31899A>C
NC_000006.12:g.166929691T>G
NC_000006.11:g.167343179T>G
More... 		02/03/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RNASET2
Accession:NM_003730
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 223
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPAALRGALLGCLCLALLCLGGADKRLRDNHEWKKLIMVQHWPETVCEKIQNDCRDPPDYWTIHGLWPDKSEGCNRSWP
FNLEEIKDLLPEMRAYWPDVIHSFPNRSRFWKHEWEKHGTCAAQVDALNSQKKYFGRSLELYRELDLNSVLLKLGIKPSI
NYYQVADFKDALARVYGVIPKIQCLPPSQDEEVQTIGQIELCLTKQDQQLQNCTEPGEQPSPTQEVWLANGAAESRGLRV
CEDGPVFYPPPKKTKH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002590604 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene RNASET2 CLINVAR
OMIM 612944 CLINVAR