RGD:151870631 Rat Genome Database

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Variant: RGD:151870631 -  Homo sapiens

RGD ID: 151870631
RS ID: rs934916857
ClinVar ID: CV1417155
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RNASET2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 167,343,096
GRCh38 6 166,929,608
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.751C>T
NG_016280.2:g.31982C>T
NC_000006.12:g.166929608G>A
NC_000006.11:g.167343096G>A
More... 		10/07/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RNASET2
Accession:NM_003730
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 251
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPAALRGALLGCLCLALLCLGGADKRLRDNHEWKKLIMVQHWPETVCEKIQNDCRDPPDYWTIHGLWPDKSEGCNRSWP
FNLEEIKDLLPEMRAYWPDVIHSFPNRSRFWKHEWEKHGTCAAQVDALNSQKKYFGRSLELYRELDLNSVLLKLGIKPSI
NYYQVADFKDALARVYGVIPKIQCLPPSQDEEVQTIGQIELCLTKQDQQLQNCTEPGEQPSPKQEVWLANGAAESRGLRV
CEDGPVFYPPSKKTKH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001998285 CLINVAR
dbSNP (RS) rs934916857 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RNASET2 CLINVAR
OMIM 612944 CLINVAR