RGD:13615548 Rat Genome Database

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Variant: RGD:13615548 -  Homo sapiens

RGD ID: 13615548
RS ID: rs774586341
ClinVar ID: CV533604
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC2A10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 45,355,615
GRCh38 20 46,726,976
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000020.10:g.45355615C>T
NP_110404.1:p.Leu467=
NG_016284.1:g.22337C>T
NC_000020.11:g.46726976C>T
More... 		10/28/2019 synonymous variant likely benign AllHighlyPenetrant; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC2A10
Accession:XM_011529062
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 505
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHSQDRTLDLLSQPQAAPLPVCHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGAL
LASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLY
EAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFL
DLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRAL
LLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPR
SGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPGPRSHHSPGALLLSHPSDLACPQRDLPCGD
TRKSLRLLQQLQLGGQPLHQPLLP*SHWFTLSFGHRQNSTGIPYSRIEISAAS*

Gene Symbol:SLC2A10
Accession:XM_047440528
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 505
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHSQDRTLDLLSQPQAAPLPVCHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGAL
LASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLY
EAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFL
DLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRAL
LLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPR
SGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPGPRSHHSPGALLLSHPSDLACPQRDLPCGD
TRKSLRLLQQLQLGGQPLHQPLLP*SHWHHRLVLDLPALRTDRCPRPGLHLFICS*

Gene Symbol:SLC2A10
Accession:XM_017028087
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 467
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGALLASLVGGFLIDCYGRKQAILG
SNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLYEAGITVGILLSYALNYALAGT
PWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFLDLFRARDNMRGRTTVGLGLVL
FQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRALLLAGCALMALSVSGIGLVSFA
VPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPRSGDPSAPPRLALSSALPGPPL
PARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAANLFISLSFLDLIGSP*

Gene Symbol:SLC2A10
Accession:XM_011529063
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 488
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHSQDRTLDLLSQPQAAPLPVCHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGAL
LASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLY
EAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFL
DLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRAL
LLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPR
SGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAAN
LFISLSFLDLIDGKIHPYPVQPGSQKTRTSPTAFQPIALPAGDRSSWSWEAA*

Gene Symbol:SLC2A10
Accession:XM_047440529
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 484
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGALLASLVGGFLIDCYGRKQAILG
SNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLYEAGITVGILLSYALNYALAGT
PWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFLDLFRARDNMRGRTTVGLGLVL
FQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRALLLAGCALMALSVSGIGLVSFA
VPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPRSGDPSAPPRLALSSALPGPPL
PARGHALLRWTALLCLMVFVSAFSFGFGPGPRSHHSPGALLLSHPSDLACPQRDLPCGDTRKSLRLLQQLQLGGQPLHQP
LLP*SHWFTLSFGHRQNSTGIPYSRIEISAAS*

Gene Symbol:SLC2A10
Accession:XM_011529064
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 505
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHSQDRTLDLLSQPQAAPLPVCHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGAL
LASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLY
EAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFL
DLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRAL
LLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPR
SGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPGPRSHHSPGALLLSHPSDLACPQRDLPCGD
TRKSLRLLQQLQLGGQPLHQPLLP*SH*

Gene Symbol:SLC2A10
Accession:XM_011529065
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 488
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHSQDRTLDLLSQPQAAPLPVCHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGAL
LASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLY
EAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFL
DLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRAL
LLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPR
SGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAAN
LFISLSFLDLIGSP*

Gene Symbol:SLC2A10
Accession:NM_030777
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 467
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGALLASLVGGFLIDCYGRKQAILG
SNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLYEAGITVGILLSYALNYALAGT
PWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFLDLFRARDNMRGRTTVGLGLVL
FQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRALLLAGCALMALSVSGIGLVSFA
VPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPRSGDPSAPPRLALSSALPGPPL
PARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAANLFISLSFLDLIGTIGLSWTFL
LYGLTAVLGLGFIYLFVPETKGQSLAEIDQQFQKRRFTLSFGHRQNSTGIPYSRIEISAAS*

Gene Symbol:SLC2A10
Accession:XM_011529060
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 488
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHSQDRTLDLLSQPQAAPLPVCHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGAL
LASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLY
EAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFL
DLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRAL
LLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPR
SGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAAN
LFISLSFLDLIGTIGLSWTFLLYGLTAVLGLGFIYLFVPETKGQSLAEIDQQFQKRRFTLSFGHRQNSTGIPYSRIEISA
AS*

Gene Symbol:SLC2A10
Accession:XM_011529061
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 470
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAYSHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGALLASLVGGFLIDCYGRKQA
ILGSNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLYEAGITVGILLSYALNYAL
AGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFLDLFRARDNMRGRTTVGLG
LVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRALLLAGCALMALSVSGIGLV
SFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPRSGDPSAPPRLALSSALPG
PPLPARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAANLFISLSFLDLIGTIGLSW
TFLLYGLTAVLGLGFIYLFVPETKGQSLAEIDQQFQKRRFTLSFGHRQNSTGIPYSRIEISAAS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000644033 CLINVAR
  RCV001192940 CLINVAR
  RCV003162907 CLINVAR
dbSNP (RS) rs774586341 CLINVAR
MedGen C1859726 CLINVAR
  C4707243 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC2A10 CLINVAR
OMIM 208050 CLINVAR
  606145 CLINVAR