RGD:151825377 Rat Genome Database

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Variant: RGD:151825377 -  Homo sapiens

RGD ID: 151825377
RS ID: rs774739787
ClinVar ID: CV1373431
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL6R  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 154,426,969
GRCh38 1 154,454,493
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_181359.3:c.1066+4513G>T
NM_001382772.1:c.1066G>T
NM_000565.4:c.1072G>T
NM_001382773.1:c.1114+4513G>T
More... 		09/01/2021 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:IL6R
Accession:XM_047419650
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 337
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGRQGQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRRLLLRSVQLHDSGNYSCYRAGR
PAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAEDFQEPCQYSQESQKFSCQLAVP
EGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQDPHSWNSSFYRLRFELRYRAER
SKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRSPPAENEVSTPMQALTTNKDDD
NILFRDSANATSLPVQYSSSVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPT
PVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:XM_047419649
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 370
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGRQGQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRRLLLRSVQLHDSGNYSCYRAGR
PAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAEDFQEPCQYSQESQKFSCQLAVP
EGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQDPHSWNSSFYRLRFELRYRAER
SKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRSPPAENEVSTPMQALTTNKDDD
NILFRDSANATSLPGTAIKEVPKAFRLLYPLCALWEQVECHQKSHSEMQYSSSVPLPTFLVAGGSLAFGTLLCIAIVLRF
KKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR
*

Gene Symbol:IL6R
Accession:NM_000565
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 358
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRS
PPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQYSSSVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEG
KTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:XM_017001199
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 407
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTGFSP
QTIPGGIWDPAGESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPGTAIKEVPKAFRLLYPLCALWEQVECHQK
SHSEMQYSSSVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPP
VSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:NM_001382770
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 389
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTEMRS
HYVTQAGFKLLASWDSPASVSQSAGITESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQYSSSVPLPTFLV
AGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPD
ARDPRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:NM_001382772
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRSPP
AENEVSTPMQALTTNKDDDNILFRDSANATSLPVQYSSSVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKT
SMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:XM_047419657
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 326
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMASLHRPSRVAFGTQLENPGVLQLRTRCPPPCRHLLLIKTMIIFSSEILQMR
QASQCNILLQYHCPHSWLLEGAWPSERSSALPLF*

Gene Symbol:IL6R
Accession:XM_047419656
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMNPGVLQLRTRCPPPCRHLLLIKTMIIFSSEILQMRQASQELPSRRSPKPSV
CCTLFVPCGSRWNVTRKATLKCNILLQYHCPHSWLLEGAWPSERSSALPLF*

Gene Symbol:IL6R
Accession:NM_001382769
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 391
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRS
PPAENEVSTPMQALTTNKDDDNILFRDSANATSLPGTAIKEVPKAFRLLYPLCALWEQVECHQKSHSEMQYSSSVPLPTF
LVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNR
PDARDPRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:NM_001382771
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 374
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTGFSP
QTIPGGIWDPAGESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQYSSSVPLPTFLVAGGSLAFGTLLCIAI
VLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDY
FFPR*

Gene Symbol:IL6R
Accession:XM_047419648
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 386
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGRQGQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRRLLLRSVQLHDSGNYSCYRAGR
PAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAEDFQEPCQYSQESQKFSCQLAVP
EGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQDPHSWNSSFYRLRFELRYRAER
SKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTGFSPQTIPGGIWDPAGESRSPPAEN
EVSTPMQALTTNKDDDNILFRDSANATSLPGTAIKEVPKAFRLLYPLCALWEQVECHQKSHSEMQYSSSVPLPTFLVAGG
SLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARD
PRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:XM_047419654
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 359
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR
LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED
FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
PHSWNSSFYRLRFELRYRAERSKTFTTWMASLHRPSRVAFGTQLENPGVLQLRTRCPPPCRHLLLIKTMIIFSSEILQMR
QASQELPSRRSPKPSVCCTLFVPCGSRWNVTRKATLKCNILLQYHCPHSWLLEGAWPSERSSALPLF*

Gene Symbol:IL6R
Accession:NM_001382774
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGS
KFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQDPHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIH
DAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQYSS
SVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSD
NTSSHNRPDARDPRSPYDISNTDYFFPR*

Gene Symbol:IL6R
Accession:NM_001382773
Location:INTRON

Gene Symbol:IL6R
Accession:XM_005245139
Location:INTRON

Gene Symbol:IL6R
Accession:NM_181359
Location:INTRON

Gene Symbol:IL6R
Accession:NM_001206866
Location:INTRON

Gene Symbol:IL6R
Accession:XM_047419655
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001934539 CLINVAR
dbSNP (RS) rs774739787 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IL6R CLINVAR
OMIM 147880 CLINVAR