RGD:13214045 Rat Genome Database

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Variant: RGD:13214045 -  Homo sapiens

RGD ID: 13214045
RS ID: rs141934766
ClinVar ID: CV430552
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNAP29  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 21,241,976
GRCh38 22 20,887,688
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012152.1:g.33685C>T
NC_000022.11:g.20887688C>T
NC_000022.10:g.21241976C>T
NP_004773.1:p.Ser210Phe
More... 		11/01/2022 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:SNAP29
Accession:NM_004782
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAYPKSYNPFDDDGEDEGARPAPWRDARDLPDGPDAPADRQQYLRQEVLRRAEATAASTSRSLALMYESEKVGVASSEE
LARQRGVLERTEKMVDKMDQDLKISQKHINSIKSVFGGLVNYFKSKPVETPPEQNGTLTSQPNNRLKEAISTSKEQEAKY
QASHPNLRKLDDTDPVPRGAGSAMSTDAYPKNPHLRAYHQKIDSNLDELFMGLGRLKDIALGMQTEIEEQDDILDRLTTK
VDKLDVNIKSTERKVRQL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000500650 CLINVAR
  RCV001507497 CLINVAR
  RCV003960183 CLINVAR
dbSNP (RS) rs141934766 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SNAP29 CLINVAR
OMIM 604202 CLINVAR