RGD:151740120 Rat Genome Database

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Variant: RGD:151740120 -  Homo sapiens

RGD ID: 151740120
RS ID: rs2117648699
ClinVar ID: CV1412871
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNAI2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 49,832,640
GRCh38 8 48,920,081
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1359t1:c.440A>G
NM_003068.5:c.440A>G
LRG_1359:g.6349A>G
NG_012130.1:g.6349A>G
More... 		08/27/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SNAI2
Accession:NM_003068
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRSFLVKKHFNASKKPNYSELDTHTVIISPYLYESYSMPVIPQPEILSSGAYSPITVWTTAAPFHAQLPNGLSPLSGYS
SSLGRVSPPPPSDTSSKDHSGSESPISDEEERLQSKLSDPHAIEAEKFQCNLCNKTYSTFSGLAKHRQLHCDAQSRKSFS
CKYCDKEYVSLGALKMHIRTHTLPCVCKICGKAFSRPWLLQGHIRTHTGEKPFSCPHCNRAFADRSNLRAHLQTHSDVKK
YQCKNCSKTFSRMSLLHKHEESGCCVAH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001926385 CLINVAR
dbSNP (RS) rs2117648699 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SNAI2 CLINVAR
OMIM 602150 CLINVAR