RGD:28878694 Rat Genome Database

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Variant: RGD:28878694 -  Homo sapiens

RGD ID: 28878694
RS ID: rs144529043
ClinVar ID: CV881948
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127891493  SARS2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 39,409,078
GRCh38 19 38,918,438
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145901.2:c.906G>A
NG_031865.1:g.17459G>A
NP_001139373.1:p.Ala302=
NM_017827.3:c.900G>A
More... 		01/13/2018 synonymous variant uncertain significance HUPRA SYNDROME; Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis; HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
Disease Annotations     Click to see Annotation Detail View
HUPRA Syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:SARS2
Accession:NM_017827
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 300
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASMARRLWPLLTRRGFRPRGGCISNDSPRRSFTTEKRNRNLLYEYAREGYSALPQLDIERFCACPEEAAHALELRKGE
LRSADLPAIISTWQELRQLQEQIRSLEEEKAAVTEAVRALLANQDSGEVQQDPKYQGLRARGREIRKELVHLYPREAQLE
EQFYLQALKLPNQTHPDVPVGDESQARVLHMVGDKPVFSFQPRGHLEIGEKLDIIRQKRLSHVSGHRSYYLRGAGALLQH
GLVNFTFNKLLRRGFTPMTVPDLLRGAVFEGCGMTPNANPSQIYNIDPARFKDLNLAGTAEVGLAGYFMDHTVAFRDLPV
RMVCSSTCYRAETNTGQEPRGLYRVHHFTKVEMFGVTGPGLEQSSQLLEEFLSLQMEILTELGLHFRVLDMPTQELGLPA
YRKFDIEAWMPGRGRFGEVTSASNCTDFQSRRLHIMFQTEAGELQFAHTVNATACAVPRLLIALLESNQQKDGSVLVPPA
LQSYLGTDRITAPTHVPLQYIGPNQPRKPGLPGQPAVS*

Gene Symbol:SARS2
Accession:NM_001145901
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASMARRLWPLLTRRGFRPRGGCISNDSPRRSFTTEKRNRNLLYEYAREGYSALPQLDIERFCACPEEAAHALELRKGE
LRSADLPAIISTWQELRQLQEQIRSLEEEKAAVTEAVRALLANQDSGEVQQVRLDPGAGSIFGPTFLPFPGQLSLLVEAQ
LEEQFYLQALKLPNQTHPDVPVGDESQARVLHMVGDKPVFSFQPRGHLEIGEKLDIIRQKRLSHVSGHRSYYLRGAGALL
QHGLVNFTFNKLLRRGFTPMTVPDLLRGAVFEGCGMTPNANPSQIYNIDPARFKDLNLAGTAEVGLAGYFMDHTVAFRDL
PVRMVCSSTCYRAETNTGQEPRGLYRVHHFTKVEMFGVTGPGLEQSSQLLEEFLSLQMEILTELGLHFRVLDMPTQELGL
PAYRKFDIEAWMPGRGRFGEVTSASNCTDFQSRRLHIMFQTEAGELQFAHTVNATACAVPRLLIALLESNQQKDGSVLVP
PALQSYLGTDRITAPTHVPLQYIGPNQPRKPGLPGQPAVS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001135279 CLINVAR
dbSNP (RS) rs144529043 CLINVAR
MedGen C3151209 CLINVAR
NCBI Gene SARS2 CLINVAR
OMIM 612804 CLINVAR
  613845 CLINVAR
SNOMED CT 776416004 CLINVAR