RGD:329402852 Rat Genome Database

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Variant: RGD:329402852 -  Homo sapiens

RGD ID: 329402852
ClinVar ID: CV2451457
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZNF703  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 37,555,470
GRCh38 8 37,697,952
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_025069.3:c.1051G>T
NC_000008.11:g.37697952G>T
NC_000008.10:g.37555470G>T
NM_025069.1:c.1051G>T
More... 		02/06/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZNF703
Accession:NM_025069
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDSPAGSNPRTPESSGSGSGGGGKRPAVPAAVSLLPPADPLRQANRLPIRVLKMLSAHTGHLLHPEYLQPLSSTPVSPI
ELDAKKSPLALLAQTCSQIGKPDPPPSSKLNSVAAAANGLGAEKDPGRSAPGAASAAAALKQLGDSPAEDKSSFKPYSKG
SGGGDSRKDSGSSSVSSTSSSSSSSPGDKAGFRVPSAACPPFPPHGAPVSASSSSSSPGGSRGGSPHHSDCKNGGGVGGG
ELDKKDQEPKPSPEPAAVSRGGGGEPGAHGGAESGASGRKSEPPSALVGAGHVAPVSPYKPGHSVFPLPPSSIGYHGSIV
GAYAGYPSQFVPGLDPSKSGLVGGQLSGGLCLPPGKPPSSSPLTGASPPSFLQGLCRDPYCLGGYHGASHLGGSSCSTCS
AHDPAGPSLKAGGYPLVYPGHPLQPAALSSSAAQAALPGHPLYTYGFMLQNEPLPHSCNWVAASGPCDKRFATSEELLSH
LRTHTALPGAEKLLAAYPGASGLGSAAAAAAAAASCHLHLPPPAAPGSPGSLSLRNPHTLGLSRYHPYGKSHLSTAGGLA
VPSLPTAGPYYSPYALYGQRLASASALGYQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003199746 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ZNF703 CLINVAR
OMIM 617045 CLINVAR