RGD:12849051 Rat Genome Database

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Variant: RGD:12849051 -  Homo sapiens

RGD ID: 12849051
RS ID: rs35836343
ClinVar ID: CV363787
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DCPS  GSEC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 126,213,242
GRCh38 11 126,343,347
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.126343347G>A
NC_000011.9:g.126213242G>A
NP_054745.1:p.Gly226Asp
NM_014026.6:c.677G>A
More... 		05/28/2019 missense variant benign|likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DCPS
Accession:NM_001350236
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAAPQLGKRKRELDVEEAHAASTEEKEAGVGNGTCAPVRLPFSGFRLQKVLRESARDKIIFLHGKVPGGNPEVNEASG
DGDGEDAVVILEKTPFQVEQVAQLLTGSPELQLQFSNDIYSTYHLFPPRQLNDVKTTVVYPATEKHLQKYLRQDLRLIRE
TGDDYRNITLPHLESQSLSIQWVYNILDKKAEADRIVFENPDPSDGFVLIPDLKWNQQQLDDLYLIAICHRRDIRSLRDL
TPEHLPLLRNILHQGQEAILQRYRMKGDHLRVYLHYLPSYYHLHVHFTALGFEAPGSGVERAHLLAEVIENLECDPRHYQ
QRTLTFALRADDPLLKLLQEAQQS*

Gene Symbol:DCPS
Accession:NM_014026
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAAPQLGKRKRELDVEEAHAASTEEKEAGVGNGTCAPVRLPFSGFRLQKVLRESARDKIIFLHGKVNEASGDGDGEDA
VVILEKTPFQVEQVAQLLTGSPELQLQFSNDIYSTYHLFPPRQLNDVKTTVVYPATEKHLQKYLRQDLRLIRETGDDYRN
ITLPHLESQSLSIQWVYNILDKKAEADRIVFENPDPSDGFVLIPDLKWNQQQLDDLYLIAICHRRDIRSLRDLTPEHLPL
LRNILHQGQEAILQRYRMKGDHLRVYLHYLPSYYHLHVHFTALGFEAPGSGVERAHLLAEVIENLECDPRHYQQRTLTFA
LRADDPLLKLLQEAQQS*

Gene Symbol:GSEC
Accession:NR_033839
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000423311 CLINVAR
  RCV000988766 CLINVAR
  RCV002524709 CLINVAR
  RCV003932545 CLINVAR
dbSNP (RS) rs35836343 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C4085595 CLINVAR
NCBI Gene DCPS CLINVAR
  GSEC CLINVAR
OMIM 610534 CLINVAR
  616459 CLINVAR