RGD:8555874 Rat Genome Database

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Variant: RGD:8555874 -  Homo sapiens

RGD ID: 8555874
RS ID: rs118203931
ClinVar ID: CV15953
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 86,377,518
GRCh38 8 85,465,289
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007287.1:g.6273A>G
NC_000008.11:g.85465289A>G
NC_000008.10:g.86377518A>G
NP_000058.1:p.Lys18Glu
More... 		12/01/2009 2kb upstream variant|5 prime utr variant|missense|missense variant pathogenic

Variant Details
Variant Transcripts
Gene Symbol:CA2
Accession:NM_001293675
Location:5UTRS;EXON

Gene Symbol:CA2
Accession:NM_000067
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHHWGYGKHNGPEHWHEDFPIAKGERQSPVDIDTHTAKYDPSLKPLSVSYDQATSLRILNNGHAFNVEFDDSQDKAVLK
GGPLDGTYRLIQFHFHWGSLDGQGSEHTVDKKKYAAELHLVHWNTKYGDFGKAVQQPDGLAVLGIFLKVGSAKPGLQKVV
DVLDSIKTKGKSADFTNFDPRGLLPESLDYWTYPGSLTTPPLLECVTWIVLKEPISVSSEQVLKFRKLNFNGEGEPEELM
VDNWRPAQPLKNRQIKASFK*
Variant Samples
Additional References at PubMed
PMID:6817747  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000962 CLINVAR
dbSNP (RS) rs118203931 CLINVAR
NCBI Gene CA2 CLINVAR
OMIM 611492 CLINVAR
OMIM Allele 611492.0002 CLINVAR