RGD:156191152 Rat Genome Database

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Variant: RGD:156191152 -  Homo sapiens

RGD ID: 156191152
ClinVar ID: CV2255224
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127459166  ZNF703  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 37,553,529
GRCh38 8 37,696,011
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.32G>A
NG_113935.1:g.485G>A
NC_000008.11:g.37696011G>A
NC_000008.10:g.37553529G>A
More... 		11/24/2021 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: R to K (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDSPAGSNPKTPESSGSGSGGGGKRPAVPAAVSLLPPADPLRQANRLPIRVLKMLSAHTGHLLHPEYLQPLSSTPVSPI
ELDAKKSPLALLAQTCSQIGKPDPPPSSKLNSVAAAANGLGAEKDPGRSAPGAASAAAALKQLGDSPAEDKSSFKPYSKG
SGGGDSRKDSGSSSVSSTSSSSSSSPGDKAGFRVPSAACPPFPPHGAPVSASSSSSSPGGSRGGSPHHSDCKNGGGVGGG
ELDKKDQEPKPSPEPAAVSRGGGGEPGAHGGAESGASGRKSEPPSALVGAGHVAPVSPYKPGHSVFPLPPSSIGYHGSIV
GAYAGYPSQFVPGLDPSKSGLVGGQLSGGLGLPPGKPPSSSPLTGASPPSFLQGLCRDPYCLGGYHGASHLGGSSCSTCS
AHDPAGPSLKAGGYPLVYPGHPLQPAALSSSAAQAALPGHPLYTYGFMLQNEPLPHSCNWVAASGPCDKRFATSEELLSH
LRTHTALPGAEKLLAAYPGASGLGSAAAAAAAAASCHLHLPPPAAPGSPGSLSLRNPHTLGLSRYHPYGKSHLSTAGGLA
VPSLPTAGPYYSPYALYGQRLASASALGYQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002802853 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ZNF703 CLINVAR
OMIM 617045 CLINVAR