RGD:13705511 Rat Genome Database

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Variant: RGD:13705511 -  Homo sapiens

RGD ID: 13705511
RS ID: rs372778114
ClinVar ID: CV536667
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEPSECS  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 25,157,671
GRCh38 4 25,156,049
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028222.1:g.9534A>G
NC_000004.11:g.25157671T>C
NC_000004.12:g.25156049T>C
NP_058651.3:p.Met179Val
More...
05/09/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SEPSECS
Accession:NM_016955
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRESFAAGERLVSPAYVRQGCEARRSHEHLIRLLLEKGKCPENGWDESTLELFLHELAIMDSNNFLGNCGVGEREGRVA
SALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTLRHKRP
KAKYIIWPRIDQKSCFKSVITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRLEELAV
ICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRASASPSL
DVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSMLFTRQV
SGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDKTEDVD
IEEMALKLDNVLLDTYQDASS*

Gene Symbol:SEPSECS
Accession:XM_011513848
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSNNFLGNCGVGEREGRVASALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVV
PMATGMSLTLCFLTLRHKRPKAKYIIWPRIDQKSCFKSVITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCI
HSTTSCFAPRVPDRLEELAVICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFND
SFIQEISKMYPGRASASPSLDVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTL
DEHRDKAVTQLGSMLFTRQVSGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKA
VRKERSKESDDNYDKTEDVDIEEMALKLDNVLLDTYQDASS*

Gene Symbol:SEPSECS
Accession:XM_011513846
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQCDDLGSLQPPPPGFTPFACLSLPSSWDYRRPPPHPGKCPENGWDESTLELFLHELAIMDSNNFLGNCGVGEREGRVAS
ALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTLRHKRPK
AKYIIWPRIDQKSCFKSVITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRLEELAVI
CANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRASASPSLD
VLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSMLFTRQVS
GARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDKTEDVDI
EEMALKLDNVLLDTYQDASS*

Gene Symbol:SEPSECS
Accession:XM_011513847
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFVDCMLTRTTSFPRNFTGLPPASVHGKCPENGWDESTLELFLHELAIMDSNNFLGNCGVGEREGRVASALVARRHYRF
IHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTLRHKRPKAKYIIWPRID
QKSCFKSVITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRLEELAVICANYDIPHIV
NNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRASASPSLDVLITLLSLGS
NGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSMLFTRQVSGARVVPLGSM
QTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDKTEDVDIEEMALKLDNV
LLDTYQDASS*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRESFAAGERLVSPAYVRQGCEARRSHEHLIRLLLEKSLALSPRLECSVTISAHCSLRLPGSRHSPASASRVAGTTGAR
HHTRLMFVFLVEMGFHHVGQADLKLLTSSDRPFLAFQSARITGGKCPENGWDESTLELFLHELAIMDSNNFLGNCGVGER
EGRVASALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTL
RHKRPKAKYIIWPRIDQKSCFKSVITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRL
EELAVICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRAS
ASPSLDVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSML
FTRQVSGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDK
TEDVDIEEMALKLDNVLLDTYQDASS*

Gene Symbol:SEPSECS
Accession:XM_047415762
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSNNFLGNCGVGEREGRVASALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVV
PMATGMSLTLCFLTLRHKRPKAKYIIWPRIDQKSCFKSVITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCI
HSTTSCFAPRVPDRLEELAVICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFND
SFIQEISKMYPGRASASPSLDVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTL
DEHRDKAVTQLGSMLFTRQVSGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKA
VRKERSKESDDNYDKTEDVDIEEMALKLDNVLLDTYQDASS*

Gene Symbol:SEPSECS
Accession:NM_001410714
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRESFAAGERLVSPAYVRQGCEARRSHEHLIRLLLEKSLALSPRLECSVTISAHCSLRLPGSRHSPASASRVAGTTGAR
HHTRLMFVFLVEMGFHHVGQADLKLLTSSDRPFLAFQSARITGGKCPENGWDESTLELFLHELAIMDSNNFLGNCGVGER
EGRVASALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTL
RHKRPKAKYIIWPRIDQKSCFKSVITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRL
EELAVICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRAS
ASPSLDVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSML
FTRQVSGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDK
TEDVDIEEMALKLDNVLLDTYQDASS*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000658062 CLINVAR
dbSNP (RS) rs372778114 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SEPSECS CLINVAR
OMIM 613009 CLINVAR