RGD:151755975 Rat Genome Database

RGD ID:

151755975

RS ID:

rs760762353

ClinVar ID:

CV1490639

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	25,160,720
GRCh38	4	25,159,098

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_016955.4:c.124C>A NG_028222.1:g.6485C>A NC_000004.12:g.25159098G>T NC_000004.11:g.25160720G>T NP_058651.3:p.Pro42Thr More...	09/24/2021	missense variant	uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	SEPSECS
Accession:	NM_001410714
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRESFAAGERLVSPAYVRQGCEARRSHEHLIRLLLEKSLALSPRLECSVTISAHCSLRLPGSRHSPASASRVAGTTGAR HHTRLMFVFLVEMGFHHVGQADLKLLTSSDRPFLAFQSARITGGKCTENGWDESTLELFLHELAIMDSNNFLGNCGVGER EGRVASALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTL RHKRPKAKYIIWPRIDQKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRL EELAVICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRAS ASPSLDVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSML FTRQVSGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDK TEDVDIEEMALKLDNVLLDTYQDASS*

Gene Symbol:	SEPSECS
Accession:	XM_011513846
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	41

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQCDDLGSLQPPPPGFTPFACLSLPSSWDYRRPPPHPGKCTENGWDESTLELFLHELAIMDSNNFLGNCGVGEREGRVAS ALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTLRHKRPK AKYIIWPRIDQKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRLEELAVI CANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRASASPSLD VLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSMLFTRQVS GARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDKTEDVDI EEMALKLDNVLLDTYQDASS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRESFAAGERLVSPAYVRQGCEARRSHEHLIRLLLEKSLALSPRLECSVTISAHCSLRLPGSRHSPASASRVAGTTGAR HHTRLMFVFLVEMGFHHVGQADLKLLTSSDRPFLAFQSARITGGKCTENGWDESTLELFLHELAIMDSNNFLGNCGVGER EGRVASALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTL RHKRPKAKYIIWPRIDQKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRL EELAVICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRAS ASPSLDVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSML FTRQVSGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDK TEDVDIEEMALKLDNVLLDTYQDASS*

Gene Symbol:	SEPSECS
Accession:	XM_011513847
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	31

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVFVDCMLTRTTSFPRNFTGLPPASVHGKCTENGWDESTLELFLHELAIMDSNNFLGNCGVGEREGRVASALVARRHYRF IHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTLRHKRPKAKYIIWPRID QKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRLEELAVICANYDIPHIV NNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRASASPSLDVLITLLSLGS NGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSMLFTRQVSGARVVPLGSM QTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDKTEDVDIEEMALKLDNV LLDTYQDASS*

Gene Symbol:	SEPSECS
Accession:	NM_016955
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	42

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRESFAAGERLVSPAYVRQGCEARRSHEHLIRLLLEKGKCTENGWDESTLELFLHELAIMDSNNFLGNCGVGEREGRVA SALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTLRHKRP KAKYIIWPRIDQKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRLEELAV ICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRASASPSL DVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSMLFTRQV SGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDKTEDVD IEEMALKLDNVLLDTYQDASS*

Variant Samples

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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