RGD:155994205 Rat Genome Database

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Variant: RGD:155994205 -  Homo sapiens

RGD ID: 155994205
ClinVar ID: CV2253668
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130002645  SLC2A8  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 130,159,528
GRCh38 9 127,397,249
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001271712.2:c.-101G>C
NM_001271711.2:c.19G>C
NM_014580.5:c.19G>C
NC_000009.12:g.127397249G>C
More... 		12/21/2021 5 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SLC2A8
Accession:NM_001271712
Location:5UTRS;EXON

Gene Symbol:SLC2A8
Accession:XM_047423294
Location:5UTRS;EXON

Gene Symbol:SLC2A8
Accession:XM_024447526
Location:5UTRS;EXON

Gene Symbol:SLC2A8
Accession:XM_017014653
Location:5UTRS;EXON

Gene Symbol:SLC2A8
Accession:XM_047423293
Location:5UTRS;EXON

Gene Symbol:SLC2A8
Accession:NM_014580
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPEDPQETQPLLGPPGGSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGAVVTLGA
AAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQDVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSC
VQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLLMCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAE
QSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFYAETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRL
LLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAPVSAQPVDASVGLAWLAVGSMCLFIAGFAVGWGPIPWLLMSEI
FPLHVKGVATGICVLTNWLMAFLVTKEFSSLMEVLRPYGAFWLASAFCIFSVLFTLFCVPETKGKTLEQITAHFEGR*

Gene Symbol:SLC2A8
Accession:XM_047423288
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPEDPQETQPLLGPPGGSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS
SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR
ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ
DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLL
MCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAEQSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFY
AETIFEEAKFKVWSWCSARVPSAPTSS*

Gene Symbol:SLC2A8
Accession:XM_047423283
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPEDPQETQPLLGPPGGSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS
SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR
ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ
DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLL
MCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAEQSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFY
AETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAP
VSAQPVDASVGLAWLAVGSMCLFIAGFAVGWGPIPWLLMSEIFPLHVKGVATGICVLTNWLMAFLVTKEFSSLMEVLRPY
GAFWLASAFCIFSVLFTLFCVPETKGKTLEQITAHFEGR*

Gene Symbol:SLC2A8
Accession:XM_047423290
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPEDPQETQPLLGPPGGSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS
SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR
ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ
DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAAAVGGQRRHVLCRDHL*

Gene Symbol:SLC2A8
Accession:XM_047423292
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPEDPQETQPLLGPPGGSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS
SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR
ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ
DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAAAVGGQRRHVLCRDHL*

Gene Symbol:SLC2A8
Accession:XM_047423287
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPEDPQETQPLLGPPGGSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS
SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR
ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ
DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLL
MCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAEQSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFY
AETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAP
VSAQPVDASVGLAWLAVGSMCLFIAGGPQALWSLLACLRFLHLQCPFHFVLCP*

Gene Symbol:SLC2A8
Accession:XM_011518602
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPEDPQETQPLLGPPGGSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGAVVTLGA
AAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQDVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSC
VQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLLMCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAE
QQLSGVNAVMFYAETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFGAYFKLTQGG
PGNSSHVAISAPVSAQPVDASVGLAWLAVGSMCLFIAGFAVGWGPIPWLLMSEIFPLHVKGVATGICVLTNWLMAFLVTK
EFSSLMEVLRPYGAFWLASAFCIFSVLFTLFCVPETKGKTLEQITAHFEGR*

Gene Symbol:SLC2A8
Accession:XM_006717084
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPEDPQETQPLLGPPGGSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGAVVTLGA
AAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQDVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSC
VQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLLMCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAE
QSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFYAETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRL
LLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAPVSAQPVDASVGLAWLAVGSMCLFIAGFAVGWGPIPWLLMSEI
FPLHVKGVATGICVLTNWLMAFLVTKEFSSLMLLLLL*

Gene Symbol:SLC2A8
Accession:XM_047423285
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPEDPQETQPLLGPPGGSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS
SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR
ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ
DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLL
MCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAEQQLSGVNAVMFYAETIFEEAKFKDSSLASVVVGVIQVL
FTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAPVSAQPVDASVGLAWLAVGSMCLFIAG
FAVGWGPIPWLLMSEIFPLHVKGVATGICVLTNWLMAFLVTKEFSSLMEVLRPYGAFWLASAFCIFSVLFTLFCVPETKG
KTLEQITAHFEGR*

Gene Symbol:SLC2A8
Accession:XM_047423286
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPEDPQETQPLLGPPGGSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS
SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR
ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ
DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLL
MCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAEQSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFY
AETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAP
VSAQPVDASVGLAWLAVGSMCLFIAGFAVGWGPIPWLLMSEIFPLHVKGVATGICVLTNWLMAFLVTKEFSSLMLLLLL*

Gene Symbol:SLC2A8
Accession:XM_047423289
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPEDPQETQPLLGPPGGSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS
SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR
ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ
DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAELSPGPAAAARHLQALHHRRLPD
GLPAAVGGQRRHVLCRDHL*

Gene Symbol:SLC2A8
Accession:NM_001271711
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPEDPQETQPLLGPPGGSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGAVVTLGA
AAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQDVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSC
VQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLLMCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAE
QSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFYAETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRL
LLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAPVSAQPVDASVGLAWLAVGSMCLFIAGGPQALWSLLACLRFLH
LQCPFHFVLCP*

Gene Symbol:SLC2A8
Accession:NR_073416
Location:EXON;NON-CODING

Gene Symbol:SLC2A8
Accession:XM_011518604
Location:INTRON

Gene Symbol:SLC2A8
Accession:XM_011518603
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004125341 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC130002645 CLINVAR
  SLC2A8 CLINVAR
OMIM 605245 CLINVAR