RGD:152075453 Rat Genome Database

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Variant: RGD:152075453 -  Homo sapiens

RGD ID: 152075453
RS ID: rs1189226877
ClinVar ID: CV1551191
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNAI2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 49,833,804
GRCh38 8 48,921,245
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1359t1:c.21C>T
NM_003068.5:c.21C>T
LRG_1359:g.5185C>T
NG_012130.1:g.5185C>T
More... 		10/20/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SNAI2
Accession:NM_003068
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRSFLVKKHFNASKKPNYSELDTHTVIISPYLYESYSMPVIPQPEILSSGAYSPITVWTTAAPFHAQLPNGLSPLSGYS
SSLGRVSPPPPSDTSSKDHSGSESPISDEEERLQSKLSDPHAIEAEKFQCNLCNKTYSTFSGLAKHKQLHCDAQSRKSFS
CKYCDKEYVSLGALKMHIRTHTLPCVCKICGKAFSRPWLLQGHIRTHTGEKPFSCPHCNRAFADRSNLRAHLQTHSDVKK
YQCKNCSKTFSRMSLLHKHEESGCCVAH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002192347 CLINVAR
dbSNP (RS) rs1189226877 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SNAI2 CLINVAR
OMIM 602150 CLINVAR