RGD:28874371 Rat Genome Database

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Variant: RGD:28874371 -  Homo sapiens

RGD ID: 28874371
RS ID: rs527970470
ClinVar ID: CV890624
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEPSECS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 25,127,346
GRCh38 4 25,125,724
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016955.4:c.1181T>C
NM_016955.3:c.1181T>C
NP_058651.3:p.Met394Thr
NC_000004.11:g.25127346A>G
More... 		01/13/2018 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SEPSECS
Accession:NM_016955
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 394
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRESFAAGERLVSPAYVRQGCEARRSHEHLIRLLLEKGKCPENGWDESTLELFLHELAIMDSNNFLGNCGVGEREGRVA
SALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTLRHKRP
KAKYIIWPRIDQKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRLEELAV
ICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRASASPSL
DVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSTLFTRQV
SGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDKTEDVD
IEEMALKLDNVLLDTYQDASS*

Gene Symbol:SEPSECS
Accession:XM_011513848
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 334
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSNNFLGNCGVGEREGRVASALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVV
PMATGMSLTLCFLTLRHKRPKAKYIIWPRIDQKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCI
HSTTSCFAPRVPDRLEELAVICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFND
SFIQEISKMYPGRASASPSLDVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTL
DEHRDKAVTQLGSTLFTRQVSGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKA
VRKERSKESDDNYDKTEDVDIEEMALKLDNVLLDTYQDASS*

Gene Symbol:SEPSECS
Accession:XM_011513846
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQCDDLGSLQPPPPGFTPFACLSLPSSWDYRRPPPHPGKCPENGWDESTLELFLHELAIMDSNNFLGNCGVGEREGRVAS
ALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTLRHKRPK
AKYIIWPRIDQKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRLEELAVI
CANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRASASPSLD
VLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSTLFTRQVS
GARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDKTEDVDI
EEMALKLDNVLLDTYQDASS*

Gene Symbol:SEPSECS
Accession:XM_011513847
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFVDCMLTRTTSFPRNFTGLPPASVHGKCPENGWDESTLELFLHELAIMDSNNFLGNCGVGEREGRVASALVARRHYRF
IHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTLRHKRPKAKYIIWPRID
QKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRLEELAVICANYDIPHIV
NNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRASASPSLDVLITLLSLGS
NGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSTLFTRQVSGARVVPLGSM
QTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDKTEDVDIEEMALKLDNV
LLDTYQDASS*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 479
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRESFAAGERLVSPAYVRQGCEARRSHEHLIRLLLEKSLALSPRLECSVTISAHCSLRLPGSRHSPASASRVAGTTGAR
HHTRLMFVFLVEMGFHHVGQADLKLLTSSDRPFLAFQSARITGGKCPENGWDESTLELFLHELAIMDSNNFLGNCGVGER
EGRVASALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTL
RHKRPKAKYIIWPRIDQKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRL
EELAVICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRAS
ASPSLDVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSTL
FTRQVSGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDK
TEDVDIEEMALKLDNVLLDTYQDASS*

Gene Symbol:SEPSECS
Accession:XM_047415762
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 334
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSNNFLGNCGVGEREGRVASALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVV
PMATGMSLTLCFLTLRHKRPKAKYIIWPRIDQKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCI
HSTTSCFAPRVPDRLEELAVICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFND
SFIQEISKMYPGRASASPSLDVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTL
DEHRDKAVTQLGSTLFTRQVSGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKA
VRKERSKESDDNYDKTEDVDIEEMALKLDNVLLDTYQDASS*

Gene Symbol:SEPSECS
Accession:NM_001410714
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 479
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRESFAAGERLVSPAYVRQGCEARRSHEHLIRLLLEKSLALSPRLECSVTISAHCSLRLPGSRHSPASASRVAGTTGAR
HHTRLMFVFLVEMGFHHVGQADLKLLTSSDRPFLAFQSARITGGKCPENGWDESTLELFLHELAIMDSNNFLGNCGVGER
EGRVASALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTL
RHKRPKAKYIIWPRIDQKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRL
EELAVICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRAS
ASPSLDVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSTL
FTRQVSGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDK
TEDVDIEEMALKLDNVLLDTYQDASS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001147177 CLINVAR
dbSNP (RS) rs527970470 CLINVAR
MedGen C3151140 CLINVAR
NCBI Gene SEPSECS CLINVAR
OMIM 613009 CLINVAR
  613811 CLINVAR