RGD:15121784 Rat Genome Database

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Variant: RGD:15121784 -  Homo sapiens

RGD ID: 15121784
RS ID: rs376482222
ClinVar ID: CV736136
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105375242  SUGCT  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 40,900,074
GRCh38 7 40,860,475
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001193312.2:c.1169A>T
NM_024728.3:c.1280A>T
NM_001193313.2:c.1313A>T
NM_001193311.2:c.1391A>T
More... 		12/31/2019 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SUGCT
Accession:XM_011515529
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 416
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLATLARVAALRRTCLFSGRGGGRGLWTGRPQSDMNNIKPLEGVKILDLTRVLAGPFATMNLGDLGAEVIKVERPGAGDD
TRTWGPPFVGTESTYYLSVNRNKKSIAVNIKDPKGVKIIKELAAVCDVFVENYVPGKLSAMGLGYEDIDEIAPHIIYCSI
TGYGQTGPISQRAGYDAVASAVSGLMHITGPEVACLSHIAANYLIGQKEAKRWGTAHGSIVPYQAFKTKDGYIVVGAGNN
QQFATVCKILDLPELIDNSKYKTNHLRVHNRKELIKILSERFEEELTSKWLYLFEGSGVPYGPINNMKNVFAEPQNAVSG
FQSLLHSLAHGPFLHLQGSARVLHNGLVMEMEHPTVGKISVPGPAVRYSKFKMSEARPPPLLGQHTTHILKEVLRYDDRA
IGELLSAGVVDQHETL*

Gene Symbol:SUGCT
Accession:XM_047420841
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 416
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLATLARVAALRRTCLFSGRGGGRGLWTGRPQSDMNNIKPLEGVKILDLTRVLAGPFATMNLGDLGAEVIKVERPGAGDD
TRTWGPPFVGTESTYYLSVNRNKKSIAVNIKDPKGVKIIKELAAVCDVFVENYVPGKLSAMGLGYEDIDEIAPHIIYCSI
TGYGQTGPISQRAGYDAVASAVSGLMHITGPEVACLSHIAANYLIGQKEAKRWGTAHGSIVPYQAFKTKDGYIVVGAGNN
QQFATVCKILDLPELIDNSKYKTNHLRVHNRKELIKILSERFEEELTSKWLYLFEGSGVPYGPINNMKNVFAEPQVQSVE
WLHKGDILMKKTLYNKTITITVLHNGLVMEMEHPTVGKISVPGPAVRYSKFKMSEARPPPLLGQHTTHILKEVLRYDDRA
IGELLSAGVVDQHETL*

Gene Symbol:SUGCT
Accession:XM_017012621
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 456
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNNIKPLEGVKILDLTRVLAGPFATMNLGDLGAEVIKVERPGAGDDTRTWGPPFVGTESTYYLSVNRNKKSIAVNIKDPK
GVKIIKELAAVCDVFVENYVPGKLSAMGLGYEDIDEIAPHIIYCSITGYGQTGPISQRAGYDAVASAVSGLMHITGPENG
DPVRPGVAMTDLATGLYAYGAIMAGLIQKYKTGKGLFIDCNLLSSQVACLSHIAANYLIGQKEAKRWGTAHGSIVPYQAF
KTKDGYIVVGAGNNQQFATVCKILDLPELIDNSKYKTNHLRVHNRKELIKILSERFEEELTSKWLYLFEGSGVPYGPINN
MKNVFAEPQNAVSGFQSLLHSLAHGPFLHLQGSARVQSVEWLHKGDILMKKTLYNKTITITVLHNGLVMEMEHPTVGKIS
VPGPAVRYSKFKMSEARPPPLLGQHTTHILKEVLRYDDRAIGELLSAGVVDQHETL*

Gene Symbol:SUGCT
Accession:NM_001193312
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 390
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLATLARVAALRRTCLFSGRGGGRGLWTGRPQSDMNNIKPLEGVKILDLTRVLAGPFATMNLGDLGAEVIKVERPGAGDD
TRTWGPPFVGTESTYYLSVNRNKKSIAVNIKDPKGVKIIKELAAVCDVFVENYVPGKLSAMGLGYEDIDEIAPHIIYCSI
TGYGQTGPISQRAGYDAVASAVSGLMHITGPEVACLSHIAANYLIGQKEAKRWGTAHGSIVPYQAFKTKDGYIVVGAGNN
QQFATVCKILDLPELIDNSKYKTNHLRVHNRKELIKILSERFEEELTSKWLYLFEGSGVPYGPINNMKNVFAEPQVLHNG
LVMEMEHPTVGKISVPGPAVRYSKFKMSEARPPPLLGQHTTHILKEVLRYDDRAIGELLSAGVVDQHETL*

Gene Symbol:SUGCT
Accession:XM_011515526
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 471
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYFYRRMRPYRWNNDMNNIKPLEGVKILDLTRVLAGPFATMNLGDLGAEVIKVERPGAGDDTRTWGPPFVGTESTYYLSV
NRNKKSIAVNIKDPKGVKIIKELAAVCDVFVENYVPGKLSAMGLGYEDIDEIAPHIIYCSITGYGQTGPISQRAGYDAVA
SAVSGLMHITGPENGDPVRPGVAMTDLATGLYAYGAIMAGLIQKYKTGKGLFIDCNLLSSQVACLSHIAANYLIGQKEAK
RWGTAHGSIVPYQAFKTKDGYIVVGAGNNQQFATVCKILDLPELIDNSKYKTNHLRVHNRKELIKILSERFEEELTSKWL
YLFEGSGVPYGPINNMKNVFAEPQNAVSGFQSLLHSLAHGPFLHLQGSARVQSVEWLHKGDILMKKTLYNKTITITVLHN
GLVMEMEHPTVGKISVPGPAVRYSKFKMSEARPPPLLGQHTTHILKEVLRYDDRAIGELLSAGVVDQHETL*

Gene Symbol:SUGCT
Accession:XM_011515525
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 490
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLATLARVAALRRTCLFSGRGGGRGLWTGRPQSDMNNIKPLEGVKILDLTRVLAGPFATMNLGDLGAEVIKVERPGAGDD
TRTWGPPFVGTESTYYLSVNRNKKSIAVNIKDPKGVKIIKELAAVCDVFVENYVPGKLSAMGLGYEDIDEIAPHIIYCSI
TGYGQTGPISQRAGYDAVASAVSGLMHITGPENGDPVRPGVAMTDLATGLYAYGAIMAGLIQKYKTGKGLFIDCNLLSSQ
VACLSHIAANYLIGQKEAKRWGTAHGSIVPYQAFKTKDGYIVVGAGNNQQFATVCKILDLPELIDNSKYKTNHLRVHNRK
ELIKILSERFEEELTSKWLYLFEGSGVPYGPINNMKNVFAEPQNAVSGFQSLLHSLAHGPFLHLQGSARVQSVEWLHKGD
ILMKKTLYNKTITITVLHNGLVMEMEHPTVGKISVPGPAVRYSKFKMSEARPPPLLGQHTTHILKEVLRYDDRAIGELLS
AGVVDQHETL*

Gene Symbol:SUGCT
Accession:NM_001193313
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 438
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLATLARVAALRRTCLFSGRGGGRGLWTGRPQSDMNNIKPLEGVKILDLTRVLAGPFATMNLGDLGAEVIKVERPGAGDD
TRTWGPPFVGTESTYYLSVNRNKKSIAVNIKDPKGVKIIKELAAVCDVFVENYVPGKLSAMGLGYEDIDEIAPHIIYCSI
TGYGQTGPISQRAGYDAVASAVSGLMHITGPENGDPVRPGVAMTDLATGLYAYGAIMAGLIQKYKTGKGLFIDCNLLSSQ
VACLSHIAANYLIGQKEAKRWGTAHGSIVPYQAFKTKDGYIVVGAGNNQQFATVCKILDLPELIDNSKYKTNHLRVHNRK
ELIKILSERFEEELTSKWLYLFEGSGVPYGPINNMKNVFAEPQVLHNGLVMEMEHPTVGKISVPGPAVRYSKFKMSEARP
PPLLGQHTTHILKEVLRYDDRAIGELLSAGVVDQHETL*

Gene Symbol:SUGCT
Accession:XM_006715775
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 464
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLATLARVAALRRTCLFSGRGGGRGLWTGRPQSDMNNIKPLEGVKILDLTRVLAGPFATMNLGDLGAEVIKVERPGAGDD
TRTWGPPFVGTESTYYLSVNRNKKSIAVNIKDPKGVKIIKELAAVCDVFVENYVPGKLSAMGLGYEDIDEIAPHIIYCSI
TGYGQTGPISQRAGYDAVASAVSGLMHITGPENGDPVRPGVAMTDLATGLYAYGAIMAGLIQKYKTGKGLFIDCNLLSSQ
VACLSHIAANYLIGQKEAKRWGTAHGSIVPYQAFKTKDGYIVVGAGNNQQFATVCKILDLPELIDNSKYKTNHLRVHNRK
ELIKILSERFEEELTSKWLYLFEGSGVPYGPINNMKNVFAEPQVQSVEWLHKGDILMKKTLYNKTITITVLHNGLVMEME
HPTVGKISVPGPAVRYSKFKMSEARPPPLLGQHTTHILKEVLRYDDRAIGELLSAGVVDQHETL*

Gene Symbol:SUGCT
Accession:XM_047420842
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 423
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYFYRRMRPYRWNNDMNNIKPLEGVKILDLTRVLAGPFATMNLGDLGAEVIKVERPGAGDDTRTWGPPFVGTESTYYLSV
NRNKKSIAVNIKDPKGVKIIKELAAVCDVFVENYVPGKLSAMGLGYEDIDEIAPHIIYCSITGYGQTGPISQRAGYDAVA
SAVSGLMHITGPEVACLSHIAANYLIGQKEAKRWGTAHGSIVPYQAFKTKDGYIVVGAGNNQQFATVCKILDLPELIDNS
KYKTNHLRVHNRKELIKILSERFEEELTSKWLYLFEGSGVPYGPINNMKNVFAEPQNAVSGFQSLLHSLAHGPFLHLQGS
ARVQSVEWLHKGDILMKKTLYNKTITITVLHNGLVMEMEHPTVGKISVPGPAVRYSKFKMSEARPPPLLGQHTTHILKEV
LRYDDRAIGELLSAGVVDQHETL*

Gene Symbol:SUGCT
Accession:NM_024728
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 427
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLATLARVAALRRTCLFSGRGGGRGLWTGRPQSDMNNIKPLEGVKILDLTRVLAGPFATMNLGDLGAEVIKVERPGAGDD
TRTWGPPFVGTESTYYLSVNRNKKSIAVNIKDPKGVKIIYCSITGYGQTGPISQRAGYDAVASAVSGLMHITGPENGDPV
RPGVAMTDLATGLYAYGAIMAGLIQKYKTGKGLFIDCNLLSSQVACLSHIAANYLIGQKEAKRWGTAHGSIVPYQAFKTK
DGYIVVGAGNNQQFATVCKILDLPELIDNSKYKTNHLRVHNRKELIKILSERFEEELTSKWLYLFEGSGVPYGPINNMKN
VFAEPQNAVSGFQSLLHSLAHGPFLHLQGSARVLHNGLVMEMEHPTVGKISVPGPAVRYSKFKMSEARPPPLLGQHTTHI
LKEVLRYDDRAIGELLSAGVVDQHETL*

Gene Symbol:SUGCT
Accession:XM_011515527
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 442
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLATLARVAALRRTCLFSGRGGGRGLWTGRPQSDMNNIKPLEGVKILDLTRVLAGPFATMNLGDLGAEVIKVERPGAGDD
TRTWGPPFVGTESTYYLSVNRNKKSIAVNIKDPKGVKIIKELAAVCDVFVENYVPGKLSAMGLGYEDIDEIAPHIIYCSI
TGYGQTGPISQRAGYDAVASAVSGLMHITGPEVACLSHIAANYLIGQKEAKRWGTAHGSIVPYQAFKTKDGYIVVGAGNN
QQFATVCKILDLPELIDNSKYKTNHLRVHNRKELIKILSERFEEELTSKWLYLFEGSGVPYGPINNMKNVFAEPQNAVSG
FQSLLHSLAHGPFLHLQGSARVQSVEWLHKGDILMKKTLYNKTITITVLHNGLVMEMEHPTVGKISVPGPAVRYSKFKMS
EARPPPLLGQHTTHILKEVLRYDDRAIGELLSAGVVDQHETL*

Gene Symbol:SUGCT
Accession:NM_001193311
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 464
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLATLARVAALRRTCLFSGRGGGRGLWTGRPQSDMNNIKPLEGVKILDLTRVLAGPFATMNLGDLGAEVIKVERPGAGDD
TRTWGPPFVGTESTYYLSVNRNKKSIAVNIKDPKGVKIIKELAAVCDVFVENYVPGKLSAMGLGYEDIDEIAPHIIYCSI
TGYGQTGPISQRAGYDAVASAVSGLMHITGPENGDPVRPGVAMTDLATGLYAYGAIMAGLIQKYKTGKGLFIDCNLLSSQ
VACLSHIAANYLIGQKEAKRWGTAHGSIVPYQAFKTKDGYIVVGAGNNQQFATVCKILDLPELIDNSKYKTNHLRVHNRK
ELIKILSERFEEELTSKWLYLFEGSGVPYGPINNMKNVFAEPQNAVSGFQSLLHSLAHGPFLHLQGSARVLHNGLVMEME
HPTVGKISVPGPAVRYSKFKMSEARPPPLLGQHTTHILKEVLRYDDRAIGELLSAGVVDQHETL*

Gene Symbol:SUGCT
Accession:XM_047420843
Location:INTRON

Gene Symbol:SUGCT
Accession:XM_017012622
Location:INTRON

Gene Symbol:SUGCT
Accession:XM_011515530
Location:INTRON

Gene Symbol:SUGCT
Accession:XM_047420840
Location:INTRON

Gene Symbol:SUGCT
Accession:XR_007060158
Location:INTRON;NON-CODING

Gene Symbol:LOC105375242
Accession:XR_927192
Location:INTRON;NON-CODING

Gene Symbol:SUGCT
Accession:XR_007060156
Location:INTRON;NON-CODING

Gene Symbol:LOC105375242
Accession:XR_001745181
Location:INTRON;NON-CODING

Gene Symbol:LOC105375242
Accession:XR_927191
Location:INTRON;NON-CODING

Gene Symbol:SUGCT
Accession:XR_007060157
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000896127 CLINVAR
dbSNP (RS) rs376482222 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SUGCT CLINVAR
OMIM 609187 CLINVAR