RGD:152135067 Rat Genome Database

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Variant: RGD:152135067 -  Homo sapiens

RGD ID: 152135067
RS ID: rs570211746
ClinVar ID: CV1642139
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL6R  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 154,437,757
GRCh38 1 154,465,281
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001382773.1:c.*116C>T
NM_181359.3:c.*116C>T
NM_001382772.1:c.1302C>T
NM_000565.4:c.1308C>T
More... 		08/11/2021 3 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:IL6R
Accession:NM_181359
Location:3UTRS;EXON

Gene Symbol:IL6R
Accession:NM_001382773
Location:3UTRS;EXON

Gene Symbol:IL6R
Accession:NM_001382769
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 469
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRS
PPAENEVSTPMQALTTNKDDDNILFRDSANATSLPGTAIKEVPKAFRLLYPLCALWEQVECHQKSHSEMQDSSSVPLPTF
LVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNR
PDARDPRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:XM_047419655
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 374
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMASLHRPSRVAFGTQLENPGVLQLRTRCPPPCRHLLLIKTMIIFSSEILQMR
QASQVQEDVEAAGSEGRQDKHASAVLFGAAGPGEASTHPSACSSHLPTGVPQQSGV*

Gene Symbol:IL6R
Accession:NM_001382770
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 467
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTEMRS
HYVTQAGFKLLASWDSPASVSQSAGITESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSSSVPLPTFLV
AGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPD
ARDPRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:XM_047419650
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 415
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGRQGQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRRLLLRSVQLHDSGNYSCYRAGR
PAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAEDFQEPCQYSQESQKFSCQLAVP
EGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQDPHSWNSSFYRLRFELRYRAER
SKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRSPPAENEVSTPMQALTTNKDDD
NILFRDSANATSLPVQDSSSVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPT
PVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:NM_001382772
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRSPP
AENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSSSVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKT
SMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:XM_005245139
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 358
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMNPGVLQLRTRCPPPCRHLLLIKTMIIFSSEILQMRQASQVQEDVEAAGSEG
RQDKHASAVLFGAAGPGEASTHPSACSSHLPTGVPQQSGV*

Gene Symbol:IL6R
Accession:XM_017001199
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 485
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTGFSP
QTIPGGIWDPAGESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPGTAIKEVPKAFRLLYPLCALWEQVECHQK
SHSEMQDSSSVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPP
VSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:NM_000565
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 436
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRS
PPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSSSVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEG
KTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:NM_001382774
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 316
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGS
KFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQDPHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIH
DAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSS
SVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSD
NTSSHNRPDARDPRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:XM_047419648
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 464
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGRQGQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRRLLLRSVQLHDSGNYSCYRAGR
PAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAEDFQEPCQYSQESQKFSCQLAVP
EGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQDPHSWNSSFYRLRFELRYRAER
SKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTGFSPQTIPGGIWDPAGESRSPPAEN
EVSTPMQALTTNKDDDNILFRDSANATSLPGTAIKEVPKAFRLLYPLCALWEQVECHQKSHSEMQDSSSVPLPTFLVAGG
SLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARD
PRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:NM_001382771
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 452
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTGFSP
QTIPGGIWDPAGESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSSSVPLPTFLVAGGSLAFGTLLCIAI
VLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDY
FFPR*

Gene Symbol:IL6R
Accession:XM_047419649
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 448
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGRQGQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRRLLLRSVQLHDSGNYSCYRAGR
PAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAEDFQEPCQYSQESQKFSCQLAVP
EGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQDPHSWNSSFYRLRFELRYRAER
SKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRSPPAENEVSTPMQALTTNKDDD
NILFRDSANATSLPGTAIKEVPKAFRLLYPLCALWEQVECHQKSHSEMQDSSSVPLPTFLVAGGSLAFGTLLCIAIVLRF
KKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR
*

Gene Symbol:IL6R
Accession:XM_047419657
Location:INTRON

Gene Symbol:IL6R
Accession:XM_047419654
Location:INTRON

Gene Symbol:IL6R
Accession:XM_047419656
Location:INTRON

Gene Symbol:IL6R
Accession:NM_001206866
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002119589 CLINVAR
dbSNP (RS) rs570211746 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IL6R CLINVAR
OMIM 147880 CLINVAR