RGD:11602631 Rat Genome Database

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Variant: RGD:11602631 -  Homo sapiens

RGD ID: 11602631
RS ID: rs370952195
ClinVar ID: CV314697
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNAI2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 49,832,474
GRCh38 8 48,919,915
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_003068.4:c.606A>G
p.Gly202Gly
NG_012130.1:g.6515A>G
NC_000008.11:g.48919915T>C
More... 		09/04/2021 synonymous variant benign|likely benign|uncertain significance infancy AllHighlyPenetrant; none provided; Piebald skin depigmentation
Disease Annotations     Click to see Annotation Detail View
piebaldism  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SNAI2
Accession:NM_003068
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRSFLVKKHFNASKKPNYSELDTHTVIISPYLYESYSMPVIPQPEILSSGAYSPITVWTTAAPFHAQLPNGLSPLSGYS
SSLGRVSPPPPSDTSSKDHSGSESPISDEEERLQSKLSDPHAIEAEKFQCNLCNKTYSTFSGLAKHKQLHCDAQSRKSFS
CKYCDKEYVSLGALKMHIRTHTLPCVCKICGKAFSRPWLLQGHIRTHTGEKPFSCPHCNRAFADRSNLRAHLQTHSDVKK
YQCKNCSKTFSRMSLLHKHEESGCCVAH*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000397450 CLINVAR
  RCV000825241 CLINVAR
  RCV000902509 CLINVAR
dbSNP (RS) rs370952195 CLINVAR
MedGen C0080024 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SNAI2 CLINVAR
OMIM 172800 CLINVAR
  602150 CLINVAR