RGD:156146188 Rat Genome Database

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Variant: RGD:156146188 -  Homo sapiens

RGD ID: 156146188
ClinVar ID: CV2196859
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RNASET2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 167,369,588
GRCh38 6 166,956,100
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.83T>C
NG_016280.2:g.5490T>C
NC_000006.12:g.166956100A>G
NC_000006.11:g.167369588A>G
More... 		07/14/2021 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: L to P (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPAALRGALLGCLCLALLCLGGADKRPRDNHEWKKLIMVQHWPETVCEKIQNDCRDPPDYWTIHGLWPDKSEGCNRSWP
FNLEEIKDLLPEMRAYWPDVIHSFPNRSRFWKHEWEKHGTCAAQVDALNSQKKYFGRSLELYRELDLNSVLLKLGIKPSI
NYYQVADFKDALARVYGVIPKIQCLPPSQDEEVQTIGQIELCLTKQDQQLQNCTEPGEQPSPKQEVWLANGAAESRGLRV
CEDGPVFYPPPKKTKH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002641586 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene RNASET2 CLINVAR
OMIM 612944 CLINVAR