RGD:28890637 Rat Genome Database

Variant: RGD:28890637 - Homo sapiens

RGD ID:

28890637

RS ID:

rs763124804

ClinVar ID:

CV892584

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SLC2A9

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	9,828,178
GRCh38	4	9,826,554

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000004.12:g.9826554A>G NC_000004.11:g.9828178A>G NM_020041.2:c.1466T>C NP_001001290.1:p.Ile460Thr More...	06/07/2017	missense variant	benign	HYPOURICEMIA, RENAL, 2, AUTOSOMAL DOMINANT; HYPOURICEMIA, RENAL, 2, AUTOSOMAL RECESSIVE

Disease Annotations Click to see Annotation Detail View

Renal Hypouricemia, 2 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SLC2A9
Accession:	XM_047415973
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	460

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKLSKKDRGEDEESDSAKKKLDWSCSLLVASLAGAFGSSFLYGYNLSVVNAPTPYIKAFYNESWERRHGRPIDPDTLTLL WSVTVSIFAIGGLVGTLIVKMIGKVLGRKHTLLANNGFAISAALLMACSLQAGAFEMLIVGRFIMGIDGGVALSVLPMYL SEISPKEIRGSLGQVTAIFICIGVFTGQLLGLPELLGKESTWPYLFGVIVVPAVVQLLSLPFLPDSPRYLLLEKHNEARA VKAFQTFLGKADVSQEVEEVLAESRVQRSIRLVSVLELLRAPYVRWQVVTVIVTMACYQLCGLNAIWFYTNSIFGKAGIP PAKIPYVTLSTGGIETLAAVFSGLVIEHLGRRPLLIGGFGLMGLFFGTLTITLTLQDHAPWVPYLSIVGILAIIASFCSG PGGIPFILTGEFFQQSQRPAAFIIAGTVNWLSNFAVGLLFPFIQKSLDTYCFLVFATICTTGAIYLYFVLPETKNRTYAE ISQAFSKRNKAYPPEEKIDSAVTDVTSCQEGRPAEMNVPGYLSHQVKETPIDLHHTPDMKPFFFCTVTEVRDYYSLQLSL ALSCLTNISFNKCCSISHGF*

Gene Symbol:	SLC2A9
Accession:	NM_020041
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	489

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARKQNRNSKELGLVPLTDDTSHAGPPGPGRALLECDHLRSGVPGGRRRKDWSCSLLVASLAGAFGSSFLYGYNLSVVNA PTPYIKAFYNESWERRHGRPIDPDTLTLLWSVTVSIFAIGGLVGTLIVKMIGKVLGRKHTLLANNGFAISAALLMACSLQ AGAFEMLIVGRFIMGIDGGVALSVLPMYLSEISPKEIRGSLGQVTAIFICIGVFTGQLLGLPELLGKESTWPYLFGVIVV PAVVQLLSLPFLPDSPRYLLLEKHNEARAVKAFQTFLGKADVSQEVEEVLAESRVQRSIRLVSVLELLRAPYVRWQVVTV IVTMACYQLCGLNAIWFYTNSIFGKAGIPPAKIPYVTLSTGGIETLAAVFSGLVIEHLGRRPLLIGGFGLMGLFFGTLTI TLTLQDHAPWVPYLSIVGILAIIASFCSGPGGIPFILTGEFFQQSQRPAAFIIAGTVNWLSNFAVGLLFPFIQKSLDTYC FLVFATICTTGAIYLYFVLPETKNRTYAEISQAFSKRNKAYPPEEKIDSAVTDGKINGRP*

Gene Symbol:	SLC2A9
Accession:	XM_017008457
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	489

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARKQNRNSKELGLVPLTDDTSHAGPPGPGRALLECDHLRSGVPGGRRRKDWSCSLLVASLAGAFGSSFLYGYNLSVVNA PTPYIKAFYNESWERRHGRPIDPDTLTLLWSVTVSIFAIGGLVGTLIVKMIGKVLGRKHTLLANNGFAISAALLMACSLQ AGAFEMLIVGRFIMGIDGGVALSVLPMYLSEISPKEIRGSLGQVTAIFICIGVFTGQLLGLPELLGKESTWPYLFGVIVV PAVVQLLSLPFLPDSPRYLLLEKHNEARAVKAFQTFLGKADVSQEVEEVLAESRVQRSIRLVSVLELLRAPYVRWQVVTV IVTMACYQLCGLNAIWFYTNSIFGKAGIPPAKIPYVTLSTGGIETLAAVFSGLVIEHLGRRPLLIGGFGLMGLFFGTLTI TLTLQDHAPWVPYLSIVGILAIIASFCSGPGGIPFILTGEFFQQSQRPAAFIIAGTVNWLSNFAVGLLFPFIQKSLDTYC FLVFATICTTGAIYLYFVLPETKNRTYAEISQAFSKRNKAYPPEEKIDSAVTDVTSCQEGRPAEMNVPGYLSHQVKETPI DLHHTPDMKPFFFCTVTEVRDYYSLQLSLALSCLTNISFNKCCSISHGF*

Gene Symbol:	SLC2A9
Accession:	XM_047415975
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	460

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKLSKKDRGEDEESDSAKKKLDWSCSLLVASLAGAFGSSFLYGYNLSVVNAPTPYIKAFYNESWERRHGRPIDPDTLTLL WSVTVSIFAIGGLVGTLIVKMIGKVLGRKHTLLANNGFAISAALLMACSLQAGAFEMLIVGRFIMGIDGGVALSVLPMYL SEISPKEIRGSLGQVTAIFICIGVFTGQLLGLPELLGKESTWPYLFGVIVVPAVVQLLSLPFLPDSPRYLLLEKHNEARA VKAFQTFLGKADVSQEVEEVLAESRVQRSIRLVSVLELLRAPYVRWQVVTVIVTMACYQLCGLNAIWFYTNSIFGKAGIP PAKIPYVTLSTGGIETLAAVFSGLVIEHLGRRPLLIGGFGLMGLFFGTLTITLTLQDHAPWVPYLSIVGILAIIASFCSG PGGIPFILTGEFFQQSQRPAAFIIAGTVNWLSNFAVGLLFPFIQKSLDTYCFLVFATICTTGAIYLYFVLPETKNRTYAE ISQAFSKRNKAYPPEEKIDSAVTDGKINGRP*

Gene Symbol:	SLC2A9
Accession:	XM_047415977
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	357

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPRKHTLLANNGFAISAALLMACSLQAGAFEMLIVGRFIMGIDGGVALSVLPMYLSEISPKEIRGSLGQVTAIFICIG VFTGQLLGLPELLGKESTWPYLFGVIVVPAVVQLLSLPFLPDSPRYLLLEKHNEARAVKAFQTFLGKADVSQEVEEVLAE SRVQRSIRLVSVLELLRAPYVRWQVVTVIVTMACYQLCGLNAIWFYTNSIFGKAGIPPAKIPYVTLSTGGIETLAAVFSG LVIEHLGRRPLLIGGFGLMGLFFGTLTITLTLQDHAPWVPYLSIVGILAIIASFCSGPGGIPFILTGEFFQQSQRPAAFI IAGTVNWLSNFAVGLLFPFIQKSLDTYCFLVFATICTTGAIYLYFVLPETKNRTYAEISQAFSKRNKAYPPEEKIDSAVT DAPASSPFTTPNTAWIQAAATTTATKKEHPL*

Gene Symbol:	SLC2A9
Accession:	XM_011513860
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	489

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARKQNRNSKELGLVPLTDDTSHAGPPGPGRALLECDHLRSGVPGGRRRKDWSCSLLVASLAGAFGSSFLYGYNLSVVNA PTPYIKAFYNESWERRHGRPIDPDTLTLLWSVTVSIFAIGGLVGTLIVKMIGKVLGRKHTLLANNGFAISAALLMACSLQ AGAFEMLIVGRFIMGIDGGVALSVLPMYLSEISPKEIRGSLGQVTAIFICIGVFTGQLLGLPELLGKESTWPYLFGVIVV PAVVQLLSLPFLPDSPRYLLLEKHNEARAVKAFQTFLGKADVSQEVEEVLAESRVQRSIRLVSVLELLRAPYVRWQVVTV IVTMACYQLCGLNAIWFYTNSIFGKAGIPPAKIPYVTLSTGGIETLAAVFSGLVIEHLGRRPLLIGGFGLMGLFFGTLTI TLTLQDHAPWVPYLSIVGILAIIASFCSGPGGIPFILTGEFFQQSQRPAAFIIAGTVNWLSNFAVGLLFPFIQKSLDTYC FLVFATICTTGAIYLYFVLPETKNRTYAEISQAFSKRNKAYPPEEKIDSAVTDAQRN*

Gene Symbol:	SLC2A9
Accession:	XM_017008460
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	357

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPRKHTLLANNGFAISAALLMACSLQAGAFEMLIVGRFIMGIDGGVALSVLPMYLSEISPKEIRGSLGQVTAIFICIG VFTGQLLGLPELLGKESTWPYLFGVIVVPAVVQLLSLPFLPDSPRYLLLEKHNEARAVKAFQTFLGKADVSQEVEEVLAE SRVQRSIRLVSVLELLRAPYVRWQVVTVIVTMACYQLCGLNAIWFYTNSIFGKAGIPPAKIPYVTLSTGGIETLAAVFSG LVIEHLGRRPLLIGGFGLMGLFFGTLTITLTLQDHAPWVPYLSIVGILAIIASFCSGPGGIPFILTGEFFQQSQRPAAFI IAGTVNWLSNFAVGLLFPFIQKSLDTYCFLVFATICTTGAIYLYFVLPETKNRTYAEISQAFSKRNKAYPPEEKIDSAVT DAAQRN*

Gene Symbol:	SLC2A9
Accession:	XM_011513859
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	489

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARKQNRNSKELGLVPLTDDTSHAGPPGPGRALLECDHLRSGVPGGRRRKDWSCSLLVASLAGAFGSSFLYGYNLSVVNA PTPYIKAFYNESWERRHGRPIDPDTLTLLWSVTVSIFAIGGLVGTLIVKMIGKVLGRKHTLLANNGFAISAALLMACSLQ AGAFEMLIVGRFIMGIDGGVALSVLPMYLSEISPKEIRGSLGQVTAIFICIGVFTGQLLGLPELLGKESTWPYLFGVIVV PAVVQLLSLPFLPDSPRYLLLEKHNEARAVKAFQTFLGKADVSQEVEEVLAESRVQRSIRLVSVLELLRAPYVRWQVVTV IVTMACYQLCGLNAIWFYTNSIFGKAGIPPAKIPYVTLSTGGIETLAAVFSGLVIEHLGRRPLLIGGFGLMGLFFGTLTI TLTLQDHAPWVPYLSIVGILAIIASFCSGPGGIPFILTGEFFQQSQRPAAFIIAGTVNWLSNFAVGLLFPFIQKSLDTYC FLVFATICTTGAIYLYFVLPETKNRTYAEISQAFSKRNKAYPPEEKIDSAVTDAAQRN*

Gene Symbol:	SLC2A9
Accession:	NM_001001290
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	460

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKLSKKDRGEDEESDSAKKKLDWSCSLLVASLAGAFGSSFLYGYNLSVVNAPTPYIKAFYNESWERRHGRPIDPDTLTLL WSVTVSIFAIGGLVGTLIVKMIGKVLGRKHTLLANNGFAISAALLMACSLQAGAFEMLIVGRFIMGIDGGVALSVLPMYL SEISPKEIRGSLGQVTAIFICIGVFTGQLLGLPELLGKESTWPYLFGVIVVPAVVQLLSLPFLPDSPRYLLLEKHNEARA VKAFQTFLGKADVSQEVEEVLAESRVQRSIRLVSVLELLRAPYVRWQVVTVIVTMACYQLCGLNAIWFYTNSIFGKAGIP PAKIPYVTLSTGGIETLAAVFSGLVIEHLGRRPLLIGGFGLMGLFFGTLTITLTLQDHAPWVPYLSIVGILAIIASFCSG PGGIPFILTGEFFQQSQRPAAFIIAGTVNWLSNFAVGLLFPFIQKSLDTYCFLVFATICTTGAIYLYFVLPETKNRTYAE ISQAFSKRNKAYPPEEKIDSAVTDGKINGRP*

Gene Symbol:	SLC2A9
Accession:	XM_006713968
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	489

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARKQNRNSKELGLVPLTDDTSHAGPPGPGRALLECDHLRSGVPGGRRRKDWSCSLLVASLAGAFGSSFLYGYNLSVVNA PTPYIKAFYNESWERRHGRPIDPDTLTLLWSVTVSIFAIGGLVGTLIVKMIGKVLGRKHTLLANNGFAISAALLMACSLQ AGAFEMLIVGRFIMGIDGGVALSVLPMYLSEISPKEIRGSLGQVTAIFICIGVFTGQLLGLPELLGKESTWPYLFGVIVV PAVVQLLSLPFLPDSPRYLLLEKHNEARAVKAFQTFLGKADVSQEVEEVLAESRVQRSIRLVSVLELLRAPYVRWQVVTV IVTMACYQLCGLNAIWFYTNSIFGKAGIPPAKIPYVTLSTGGIETLAAVFSGLVIEHLGRRPLLIGGFGLMGLFFGTLTI TLTLQDHAPWVPYLSIVGILAIIASFCSGPGGIPFILTGEFFQQSQRPAAFIIAGTVNWLSNFAVGLLFPFIQKSLDTYC FLVFATICTTGAIYLYFVLPETKNRTYAEISQAFSKRNKAYPPEEKIDSAVTDAPASSPFTTPNTAWIQAAATTTATKKE HPL*

Gene Symbol:	SLC2A9
Accession:	XM_047415978
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	353

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKHTLLANNGFAISAALLMACSLQAGAFEMLIVGRFIMGIDGGVALSVLPMYLSEISPKEIRGSLGQVTAIFICIGVFTG QLLGLPELLGKESTWPYLFGVIVVPAVVQLLSLPFLPDSPRYLLLEKHNEARAVKAFQTFLGKADVSQEVEEVLAESRVQ RSIRLVSVLELLRAPYVRWQVVTVIVTMACYQLCGLNAIWFYTNSIFGKAGIPPAKIPYVTLSTGGIETLAAVFSGLVIE HLGRRPLLIGGFGLMGLFFGTLTITLTLQDHAPWVPYLSIVGILAIIASFCSGPGGIPFILTGEFFQQSQRPAAFIIAGT VNWLSNFAVGLLFPFIQKSLDTYCFLVFATICTTGAIYLYFVLPETKNRTYAEISQAFSKRNKAYPPEEKIDSAVTDAQR N*

Gene Symbol:	SLC2A9
Accession:	XM_024454153
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_017008458
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_011513867
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_047415976
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_017008459
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_024454151
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_011513864
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_011513865
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_011513856
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_011513858
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_011513861
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_047415979
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_011513866
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_024454152
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_047415980
Location:	INTRON

Gene Symbol:	SLC2A9
Accession:	XM_047415974
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001152511	CLINVAR
dbSNP (RS)	rs763124804	CLINVAR
MedGen	C2677549	CLINVAR
NCBI Gene	SLC2A9	CLINVAR
OMIM	606142	CLINVAR
	612076	CLINVAR

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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Variant: RGD:28890637 - Homo sapiens

Imported Disease Annotations - ClinVar