RGD:12885217 Rat Genome Database

Variant: RGD:12885217 - Homo sapiens

RGD ID:

12885217

RS ID:

rs1060502311

ClinVar ID:

CV404187

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SLC2A10

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	20	45,353,986
GRCh38	20	46,725,347

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	Age of Onset	Prevalence	Trait Synonyms
NG_016284.1:g.20708G>A NC_000020.11:g.46725347G>A NC_000020.10:g.45353986G>A NP_110404.1:p.Gly104Asp More...	09/26/2016	missense variant	uncertain significance	childhood	<1 / 1 000 000

Disease Annotations Click to see Annotation Detail View

arterial tortuosity syndrome (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SLC2A10
Accession:	XM_011529064
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	125

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHSQDRTLDLLSQPQAAPLPVCHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGAL LASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLDRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLY EAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFL DLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRAL LLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPR SGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPGPRSHHSPGALLLSHPSDLACPQRDLPCGD TRKSLRLLQQLQLGGQPLHQPLLPRSH*

Gene Symbol:	SLC2A10
Accession:	XM_047440528
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	125

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHSQDRTLDLLSQPQAAPLPVCHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGAL LASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLDRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLY EAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFL DLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRAL LLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPR SGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPGPRSHHSPGALLLSHPSDLACPQRDLPCGD TRKSLRLLQQLQLGGQPLHQPLLPRSHWHHRLVLDLPALRTDRCPRPGLHLFICS*

Gene Symbol:	SLC2A10
Accession:	XM_011529060
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	125

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHSQDRTLDLLSQPQAAPLPVCHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGAL LASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLDRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLY EAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFL DLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRAL LLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPR SGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAAN LFISLSFLDLIGTIGLSWTFLLYGLTAVLGLGFIYLFVPETKGQSLAEIDQQFQKRRFTLSFGHRQNSTGIPYSRIEISA AS*

Gene Symbol:	SLC2A10
Accession:	XM_047440529
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGALLASLVGGFLIDCYGRKQAILG SNLVLLAGSLTLGLAGSLAWLVLDRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLYEAGITVGILLSYALNYALAGT PWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFLDLFRARDNMRGRTTVGLGLVL FQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRALLLAGCALMALSVSGIGLVSFA VPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPRSGDPSAPPRLALSSALPGPPL PARGHALLRWTALLCLMVFVSAFSFGFGPGPRSHHSPGALLLSHPSDLACPQRDLPCGDTRKSLRLLQQLQLGGQPLHQP LLPRSHWFTLSFGHRQNSTGIPYSRIEISAAS*

Gene Symbol:	SLC2A10
Accession:	XM_011529063
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	125

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHSQDRTLDLLSQPQAAPLPVCHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGAL LASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLDRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLY EAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFL DLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRAL LLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPR SGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAAN LFISLSFLDLIDGKIHPYPVQPGSQKTRTSPTAFQPIALPAGDRSSWSWEAA*

Gene Symbol:	SLC2A10
Accession:	XM_017028087
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGALLASLVGGFLIDCYGRKQAILG SNLVLLAGSLTLGLAGSLAWLVLDRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLYEAGITVGILLSYALNYALAGT PWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFLDLFRARDNMRGRTTVGLGLVL FQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRALLLAGCALMALSVSGIGLVSFA VPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPRSGDPSAPPRLALSSALPGPPL PARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAANLFISLSFLDLIGSP*

Gene Symbol:	SLC2A10
Accession:	NM_030777
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGALLASLVGGFLIDCYGRKQAILG SNLVLLAGSLTLGLAGSLAWLVLDRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLYEAGITVGILLSYALNYALAGT PWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFLDLFRARDNMRGRTTVGLGLVL FQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRALLLAGCALMALSVSGIGLVSFA VPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPRSGDPSAPPRLALSSALPGPPL PARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAANLFISLSFLDLIGTIGLSWTFL LYGLTAVLGLGFIYLFVPETKGQSLAEIDQQFQKRRFTLSFGHRQNSTGIPYSRIEISAAS*

Gene Symbol:	SLC2A10
Accession:	XM_011529065
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	125

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHSQDRTLDLLSQPQAAPLPVCHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGAL LASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLDRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLY EAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFL DLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRAL LLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPR SGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAAN LFISLSFLDLIGSP*

Gene Symbol:	SLC2A10
Accession:	XM_011529062
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	125

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHSQDRTLDLLSQPQAAPLPVCHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGAL LASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLDRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLY EAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFL DLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRAL LLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPR SGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPGPRSHHSPGALLLSHPSDLACPQRDLPCGD TRKSLRLLQQLQLGGQPLHQPLLPRSHWFTLSFGHRQNSTGIPYSRIEISAAS*

Gene Symbol:	SLC2A10
Accession:	XM_011529061
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	107

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKAYSHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGALLASLVGGFLIDCYGRKQA ILGSNLVLLAGSLTLGLAGSLAWLVLDRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLYEAGITVGILLSYALNYAL AGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFLDLFRARDNMRGRTTVGLG LVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRALLLAGCALMALSVSGIGLV SFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPRSGDPSAPPRLALSSALPG PPLPARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAANLFISLSFLDLIGTIGLSW TFLLYGLTAVLGLGFIYLFVPETKGQSLAEIDQQFQKRRFTLSFGHRQNSTGIPYSRIEISAAS*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000464934	CLINVAR
dbSNP (RS)	rs1060502311	CLINVAR
MedGen	C1859726	CLINVAR
NCBI Gene	SLC2A10	CLINVAR
OMIM	208050	CLINVAR
	606145	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:12885217 - Homo sapiens

Imported Disease Annotations - ClinVar