RGD:15159094 Rat Genome Database

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Variant: RGD:15159094 -  Homo sapiens

RGD ID: 15159094
RS ID: rs78670696
ClinVar ID: CV720369
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NRROS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 196,388,402
GRCh38 3 196,661,531
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198565.3:c.1888G>A
NC_000003.12:g.196661531G>A
NC_000003.11:g.196388402G>A
NM_198565.2:c.1888G>A
More... 		03/29/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NRROS
Accession:NM_198565
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 630
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELLPLWLCLGFHFLTVGWRNRSGTATAASQGVCKLVGGAADCRGQSLASVPSSLPPHARMLTLDANPLKTLWNHSLQPY
PLLESLSLHSCHLERISRGAFQEQGHLRSLVLGDNCLSENYEETAAALHALPGLRRLDLSGNALTEDMAALMLQNLSSLR
SVSLAGNTIMRLDDSVFEGLERLRELDLQRNYIFEIEGGAFDGLAELRHLNLAFNNLPCIVDFGLTRLRVLNVSYNVLEW
FLATGGEAAFELETLDLSHNQLLFFPLLPQYSKLRTLLLRDNNMGFYRDLYNTSSPREMVAQFLLVDGNVTNITTVSLWE
EFSSSDLADLRFLDMSQNQFQYLPDGFLRKMPSLSHLNLHQNCLMTLHIREHEPPGALTELDLSHNQLSELHLAPGLASC
LGSLRLFNLSSNQLLGVPPGLFANARNITTLDMSHNQISLCPLPAASDRVGPPSCVDFRNMASLRSLSLEGCGLGALPDC
PFQGTSLTYLDLSSNWGVLNGSLAPLQDVAPMLQVLSLRNMGLHSSFMALDFSGFGNLRDLDLSGNCLTTFPRFGGSLAL
ETLDLRRNSLTALPQKAVSEQLSRGLRTIYLSQNPYDCCGVDGWGALQHGQTVADWAMVTCNLSSKIIRMTELPGGVPRD
CKWERLDLGLLYLVLILPSCLTLLVACTVIVLTFKKPLLQVIKSRCHWSSVY*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000881131 CLINVAR
dbSNP (RS) rs78670696 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NRROS CLINVAR
OMIM 615322 CLINVAR