RGD:8555635 Rat Genome Database

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Variant: RGD:8555635 -  Homo sapiens

RGD ID: 8555635
RS ID: rs2107113853
ClinVar ID: CV15491
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPOX  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 98,300,251
GRCh38 3 98,581,407
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1077t1:c.1277G>A
NC_000003.12:g.98581407C>T
NM_000097.7:c.1277G>A
LRG_1077:g.17205G>A
More... 		12/21/2012 missense variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CPOX
Accession:NM_000097
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 426
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALQLGRLSSGPCWLVARGGCGGPRAWSQCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAA
ALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQ
AQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCA
MGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWWFGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPDLYPKFKKWCD
DYFFIAHRGERRGIGGIFFDDLDSPSKEEVFRFVQSCARAVVPSYIPLVKKHCDDSFTPQEKLWQQLRRGRYVEFNLLYD
RGTKFGLFTPGSRIESILMSLPLTAQWEYMHSPSENSKEAEILEVLRHPRDWVR*

Gene Symbol:CPOX
Accession:XM_047447474
Location:INTRON

Gene Symbol:CPOX
Accession:XM_047447475
Location:INTRON

Gene Symbol:CPOX
Accession:XM_005247125
Location:INTRON

Gene Symbol:CPOX
Accession:XM_047447473
Location:INTRON

Gene Symbol:CPOX
Accession:XR_001740025
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:7987309  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000481 CLINVAR
dbSNP (RS) rs2107113853 CLINVAR
MedGen C0342856 CLINVAR
NCBI Gene CPOX CLINVAR
OMIM 612732 CLINVAR
OMIM Allele 612732.0002 CLINVAR
SNOMED CT 190915002 CLINVAR