RGD:13481435 Rat Genome Database

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Variant: RGD:13481435 -  Homo sapiens

RGD ID: 13481435
RS ID: rs760243787
ClinVar ID: CV442346
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127895410  SNAP29  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 21,213,591
GRCh38 22 20,859,303
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_004773.1:p.Ala65Pro
NG_012152.1:g.5300G>C
NC_000022.11:g.20859303G>C
NC_000022.10:g.21213591G>C
More... 		05/31/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SNAP29
Accession:NM_004782
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAYPKSYNPFDDDGEDEGARPAPWRDARDLPDGPDAPADRQQYLRQEVLRRAEATAASTSRSLPLMYESEKVGVASSEE
LARQRGVLERTEKMVDKMDQDLKISQKHINSIKSVFGGLVNYFKSKPVETPPEQNGTLTSQPNNRLKEAISTSKEQEAKY
QASHPNLRKLDDTDPVPRGAGSAMSTDAYPKNPHLRAYHQKIDSNLDELSMGLGRLKDIALGMQTEIEEQDDILDRLTTK
VDKLDVNIKSTERKVRQL*
Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000517574 CLINVAR
dbSNP (RS) rs760243787 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SNAP29 CLINVAR
OMIM 604202 CLINVAR