RGD:10768211 Rat Genome Database

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Variant: RGD:10768211 -  Homo sapiens

RGD ID: 10768211
RS ID: rs864622018
ClinVar ID: CV221000
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 117,311,323
GRCh38 1 116,768,701
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000001.11:g.116768701G>C
NC_000001.10:g.117311323G>C
NP_001758.2:p.Gly325Ala
NG_050908.1:g.19272G>C
More... 		missense variant uncertain significance adult 1-9 / 100 000 Prostate cancer
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CD2
Accession:NM_001767
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 325
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFPCKFVASFLLIFNVSSKGAVSKEITNALETWGALGQDINLDIPSFQMSDDIDDIKWEKTSDKKKIAQFRKEKETFKE
KDTYKLFKNGTLKIKHLKTDDQDIYKVSIYDTKGKNVLEKIFDLKIQERVSKPKISWTCINTTLTCEVMNGTDPELNLYQ
DGKHLKLSQRVITHKWTTSLSAKFKCTAGNKVSKESSVEPVSCPEKGLDIYLIIGICGGGSLLMVFVALLVFYITKRKKQ
RSRRNDEELETRAHRVATEERGRKPHQIPASTPQNPATSQHPPPPPGHRSQAPSHRPPPPGHRVQHQPQKRPPAPSGTQV
HQQKAPPLPRPRVQPKPPHGAAENSLSPSSN*

Gene Symbol:CD2
Accession:NM_001328609
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFPCKFVASFLLIFNVSSKGAVSKEITNALETWGALGQDINLDIPSFQMSDDIDDIKWEKTSDKKKIAQFRKEKETFKE
KDTYKLFKNGTLKIKHLKTDDQDIYKVSIYDTKGKNVLEKIFDLKIQERVSKPKISWTCINTTLTCEVMNGTDPELNLYQ
DGKHLKLSQRVITHKWTTSLSAKFKCTAGNKVSKESSVEPVSCPGGSILGQSNGLSAWTPPSHPTSLPFAEKGLDIYLII
GICGGGSLLMVFVALLVFYITKRKKQRSRRNDEELETRAHRVATEERGRKPHQIPASTPQNPATSQHPPPPPGHRSQAPS
HRPPPPGHRVQHQPQKRPPAPSGTQVHQQKAPPLPRPRVQPKPPHGAAENSLSPSSN*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000206020 CLINVAR
dbSNP (RS) rs864622018 CLINVAR
MedGen C0376358 CLINVAR
NCBI Gene CD2 CLINVAR
OMIM 176807 CLINVAR
  186990 CLINVAR
SNOMED CT 399068003 CLINVAR