RGD:329400615 Rat Genome Database

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Variant: RGD:329400615 -  Homo sapiens

RGD ID: 329400615
ClinVar ID: CV2438568
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDS  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 113,836,341
GRCh38 12 113,398,536
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006843.3:c.404C>A
NC_000012.11:g.113836341G>T
NM_006843.2:c.404C>A
NP_006834.2:p.Pro135His
More... 		03/02/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SDS
Accession:NM_006843
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSGEPLHVKTPIRDSMALSKMAGTSVYLKMDSAQPSGSFKIRGIGHFCKRWAKQGCAHFVCSSAGNAGMAAAYAARQLG
VPATIVVPSTTPALTIERLKNEGATVKVVGELLDEAFELAKALAKNNPGWVYIPHFDDPLIWEGHASIVKELKETLWEKP
GAIALSVGGGGLLCGVVQGLQEVGWGDVPVIAMETFGAHSFHAATTAGKLVSLPKITSVAKALGVKTVGAQALKLFQEHP
IFSEVISDQEAVAAIEKFVDDEKILVEPACGAALAAVYSHVIQKLQLEGNLRTPLPSLVVIVCGGSNISLAQLRALKEQL
GMTNRLPK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003197615 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SDS CLINVAR
OMIM 182128 CLINVAR