RGD:28894940 Rat Genome Database

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Variant: RGD:28894940 -  Homo sapiens

RGD ID: 28894940
RS ID: rs753361228
ClinVar ID: CV878057
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACE  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 61,557,208
GRCh38 17 63,479,847
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000789.4:c.590G>A
NG_011648.1:g.7775G>A
NM_000789.3:c.590G>A
NP_000780.1:p.Gly197Asp
More... 		04/27/2017 missense variant uncertain significance Hemorrhage, intracerebral, susceptibility to; Microvascular complications of diabetes 3; Primitive renal tubule syndrome; Renal tubular dysgenesis of genetic origin; Renotubular dysgenesis; Stroke, hemorrhagic, susceptibility to
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ACE
Accession:NM_001382701
Location:5UTRS;INTRON

Gene Symbol:ACE
Accession:NM_000789
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQVLFQSVAASWAHDTNITAENA
RRQEEAALLSQEFAEAWGQKAKELYEPIWQNFTDPQLRRIIGAVRTLGSANLPLAKRQQYNALLSNMSRIYSTAKVCLPN
KTATCWSLDPDLTNILASSRSYAMLLFAWEGWHNAADIPLKPLYEDFTALSNEAYKQDGFTDTGAYWRSWYNSPTFEDDL
EHLYQQLEPLYLNLHAFVRRALHRRYGDRYINLRGPIPAHLLGDMWAQSWENIYDMVVPFPDKPNLDVTSTMLQQGWNAT
HMFRVAEEFFTSLELSPMPPEFWEGSMLEKPADGREVVCHASAWDFYNRKDFRIKQCTRVTMDQLSTVHHEMGHIQYYLQ
YKDLPVSLRRGANPGFHEAIGDVLALSVSTPEHLHKIGLLDRVTNDTESDINYLLKMALEKIAFLPFGYLVDQWRWGVFS
GRTPPSRYNFDWWYLRTKYQGICPPVTRNETHFDAGAKFHVPNVTPYIRYFVSFVLQFQFHEALCKEAGYEGPLHQCDIY
RSTKAGAKLRKVLQAGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGI
DLVTDEAEASKFVEEYDRTSQVVWNEYAEANWNYNTNITTETSKILLQKNMQIANHTLKYGTQARKFDVNQLQNTTIKRI
IKKVQDLERAALPAQELEEYNKILLDMETTYSVATVCHPNGSCLQLEPDLTNVMATSRKYEDLLWAWEGWRDKAGRAILQ
FYPKYVELINQAARLNGYVDAGDSWRSMYETPSLEQDLERLFQELQPLYLNLHAYVRRALHRHYGAQHINLEGPIPAHLL
GNMWAQTWSNIYDLVVPFPSAPSMDTTEAMLKQGWTPRRMFKEADDFFTSLGLLPVPPEFWNKSMLEKPTDGREVVCHAS
AWDFYNGKDFRIKQCTTVNLEDLVVAHHEMGHIQYFMQYKDLPVALREGANPGFHEAIGDVLALSVSTPKHLHSLNLLSS
EGGSDEHDINFLMKMALDKIAFIPFSYLVDQWRWRVFDGSITKENYNQEWWSLRLKYQGLCPPVPRTQGDFDPGAKFHIP
SSVPYIRYFVSFIIQFQFHEALCQAAGHTGPLHKCDIYQSKEAGQRLATAMKLGFSRPWPEAMQLITGQPNMSASAMLSY
FKPLLDWLRTENELHGEKLGWPQYNWTPNSARSEGPLPDSGRVSFLGLDLDAQQARVGQWLLLFLGIALLVATLGLSQRL
FSIRHRSLHRHSHGPQFGSEVELRHS*

Gene Symbol:ACE
Accession:NM_152830
Location:INTRON

Gene Symbol:ACE
Accession:NM_001178057
Location:INTRON

Gene Symbol:ACE
Accession:XM_006721737
Location:INTRON

Gene Symbol:ACE
Accession:NM_001382700
Location:INTRON

Gene Symbol:ACE
Accession:NM_001382702
Location:INTRON

Gene Symbol:ACE
Accession:NR_168483
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001122293 CLINVAR
  RCV002482227 CLINVAR
dbSNP (RS) rs753361228 CLINVAR
MedGen C0266313 CLINVAR
  C2675470 CLINVAR
NCBI Gene ACE CLINVAR
OMIM 106180 CLINVAR
  267430 CLINVAR
  612624 CLINVAR
  614519 CLINVAR
SNOMED CT 702397002 CLINVAR