RGD:28873985 Rat Genome Database

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Variant: RGD:28873985 -  Homo sapiens

RGD ID: 28873985
RS ID: rs186133446
ClinVar ID: CV897074
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPINE1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 100,781,340
GRCh38 7 101,138,059
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.13:g.100781340T>A
NM_000602.4:c.*617T>A
NM_000602.5:c.*617T>A
LRG_597:g.15962T>A
More... 		01/13/2018 3 prime utr variant uncertain significance HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SERPINE1
Accession:NM_001386466
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386465
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386464
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386458
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_000602
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386456
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386457
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386463
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386462
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386461
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 442
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQMSPALTCLVLGLALVFGEGSAVHHPPSYVAHLASDFGVRVFQQVAQASKDRNVVFSPYGVASVLAMLQLTTGGETQQQ
IQAAMGFKIDDKGMAPALRHLYKELMGPWNKDEISTTDAIFVQRDLKLVQGFMPHFFRLFRSTVKQVDFSEVERARFIIN
DWVKTHTKGMISNLLGKGAVDQLTRLVLVNALYFNGQWKTPFPDSSTHRRLFHKSDGSTVSVPMMAQTNKFNYTEFTTPD
GHYYDILELPYHGDTLSMFIAAPYEKEVPLSALTNILSAQLISHWKGNMTRLPRLLVLPKFSLETEVDLRKPLENLGMTD
MFRQFQADFTSLSDQEPLHVAQALQKVKIEVNESGTVASSSTGAFVCLVETISVPVTLPSLLYCLPPRRRLVTGQRPVEE
TPFHLRVHCGTGHPSPVQGCCRWQSECPPSCGPTLLAWPSPTPETVCMGYFGV*

Gene Symbol:SERPINE1
Accession:NM_001386459
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 416
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQMSPALTCLVLGLALVFGEGSAVHHPPSYVAHLASDFGVRVFQQVAQASKDRNVVFSPYGVASVLAMLQLTTGGETQQQ
IQAAMGFKIDDKGMAPALRHLYKELMGPWNKDEISTTDAIFVQRDLKLVQGFMPHFFRLFRSTVKQVDFSEVERARFIIN
DWVKTHTKGMISNLLGKGAVDQLTRLVLVNALYFNGQWKTPFPDSSTHRRLFHKSDGSTVSVPMMAQTNKFNYTEFTTPD
GHYYDILELPYHGDTLSMFIAAPYEKEVPLSALTNILSAQLISHWKGNMTRLPRLLVLPKFSLETEVDLRKPLENLGMTD
MFRQFQADFTSLSDQEPLHVAQALQKVKIEVNESGTVASSSTAVIVSARMAPEEIIMDRPFLFVVRHNPTGTVLFMGQSE
CPPSCGPTLLAWPSPTPETVCMGYFGV*

Gene Symbol:SERPINE1
Accession:NM_001386460
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 481
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQMSPALTCLVLGLALVFGEGSAVHHPPSYVAHLASDFGVRVFQQVAQASKDRNVVFSPYGVASVLAMLQLTTGGETQQQ
IQAAMGFKIDDKGMAPALRHLYKELMGPWNKDEISTTDAIFVQRDLKLVQGFMPHFFRLFRSTVKQVDFSEVERARFIIN
DWVKTHTKGMISNLLGKGAVDQLTRLVLVNALYFNGQWKTPFPDSSTHRRLFHKSDGSTVSVPMMAQTNKFNYTEFTTPD
GHYYDILELPYHGDTLSMFIAAPYEKEVPLSALTNILSAQLISHWKGNMTRLPRLLVLPKFSLETEVDLRKPLENLGMTD
MFRQFQADFTSLSDQEPLHVAQALQKVKIEVNESGTVASSSTAVIVSARMAPEEIIMDRPFLFVVRHNPTGPLQDGTTGL
TGAFVCLVETISVPVTLPSLLYCLPPRRRLVTGQRPVEETPFHLRVHCGTGHPSPVQGCCRWQSECPPSCGPTLLAWPSP
TPETVCMGYFGV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001165149 CLINVAR
dbSNP (RS) rs186133446 CLINVAR
MedGen C2750067 CLINVAR
NCBI Gene SERPINE1 CLINVAR
OMIM 173360 CLINVAR
  613329 CLINVAR