RGD:11650126 Rat Genome Database

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Variant: RGD:11650126 -  Homo sapiens

RGD ID: 11650126
RS ID: rs886046968
ClinVar ID: CV322000
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB18  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 27,826,996
GRCh38 10 27,538,067
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032035.1:g.38894A>G
NC_000010.11:g.27538067A>G
NC_000010.10:g.27826996A>G
NP_001243340.1:p.Pro190=
More... 		06/14/2016 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAB18
Accession:NM_021252
Location:3UTRS;EXON

Gene Symbol:RAB18
Accession:NM_001256412
Location:3UTRS;EXON

Gene Symbol:RAB18
Accession:NM_001256410
Location:3UTRS;EXON

Gene Symbol:RAB18
Accession:NM_001256411
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEDVLTTLKILIIGESGVGKSSLLLRFTDDTFDPELAATIGVDFKVKTISVDGNKAKLAIWDTAGQERFRTLTPSYYRG
AQGVILVYDVTRRDTFVKLDNWLNELETYCTRNDIVNMLVGNKIDKRQVQKPVMVYNVPLKNLLKRSFRPLDCGKVRTRI
KESNCHTGKKAKEEEPVVVIALCYKLWEIPSLAYLIR*

Gene Symbol:RAB18
Accession:NR_046172
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000291277 CLINVAR
dbSNP (RS) rs886046968 CLINVAR
MedGen C5442005 CLINVAR
NCBI Gene RAB18 CLINVAR
OMIM 602207 CLINVAR