RGD:155975268 Rat Genome Database

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Variant: RGD:155975268 - Homo sapiens

RGD ID:

155975268

ClinVar ID:

CV2342649

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC130002645 SLC2A8

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	130,159,562
GRCh38	9	127,397,283

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
NM_001271711.2:c.53G>T NM_014580.5:c.53G>T NC_000009.12:g.127397283G>T NC_000009.11:g.130159562G>T More...	03/22/2022	5 prime utr variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

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

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

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

Gene Symbol:	SLC2A8
Accession:	NM_001271712
Location:	5UTRS;EXON

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

Gene Symbol:	SLC2A8
Accession:	XM_011518602
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPEDPEETQPLLGPPGVSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGAVVTLGA AAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQDVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSC VQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLLMCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAE QQLSGVNAVMFYAETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFGAYFKLTQGG PGNSSHVAISAPVSAQPVDASVGLAWLAVGSMCLFIAGFAVGWGPIPWLLMSEIFPLHVKGVATGICVLTNWLMAFLVTK EFSSLMEVLRPYGAFWLASAFCIFSVLFTLFCVPETKGKTLEQITAHFEGR*

Gene Symbol:	SLC2A8
Accession:	XM_047423283
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPEDPEETQPLLGPPGVSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLL MCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAEQSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFY AETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAP VSAQPVDASVGLAWLAVGSMCLFIAGFAVGWGPIPWLLMSEIFPLHVKGVATGICVLTNWLMAFLVTKEFSSLMEVLRPY GAFWLASAFCIFSVLFTLFCVPETKGKTLEQITAHFEGR*

Gene Symbol:	SLC2A8
Accession:	XM_047423285
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPEDPEETQPLLGPPGVSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLL MCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAEQQLSGVNAVMFYAETIFEEAKFKDSSLASVVVGVIQVL FTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAPVSAQPVDASVGLAWLAVGSMCLFIAG FAVGWGPIPWLLMSEIFPLHVKGVATGICVLTNWLMAFLVTKEFSSLMEVLRPYGAFWLASAFCIFSVLFTLFCVPETKG KTLEQITAHFEGR*

Gene Symbol:	SLC2A8
Accession:	XM_047423288
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPEDPEETQPLLGPPGVSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLL MCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAEQSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFY AETIFEEAKFKVWSWCSARVPSAPTSS*

Gene Symbol:	SLC2A8
Accession:	NM_014580
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPEDPEETQPLLGPPGVSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGAVVTLGA AAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQDVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSC VQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLLMCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAE QSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFYAETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRL LLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAPVSAQPVDASVGLAWLAVGSMCLFIAGFAVGWGPIPWLLMSEI FPLHVKGVATGICVLTNWLMAFLVTKEFSSLMEVLRPYGAFWLASAFCIFSVLFTLFCVPETKGKTLEQITAHFEGR*

Gene Symbol:	SLC2A8
Accession:	NM_001271711
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPEDPEETQPLLGPPGVSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGAVVTLGA AAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQDVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSC VQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLLMCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAE QSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFYAETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRL LLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAPVSAQPVDASVGLAWLAVGSMCLFIAGGPQALWSLLACLRFLH LQCPFHFVLCP*

Gene Symbol:	SLC2A8
Accession:	XM_047423292
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPEDPEETQPLLGPPGVSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAAAVGGQRRHVLCRDHL*

Gene Symbol:	SLC2A8
Accession:	XM_047423287
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPEDPEETQPLLGPPGVSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLL MCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAEQSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFY AETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAP VSAQPVDASVGLAWLAVGSMCLFIAGGPQALWSLLACLRFLHLQCPFHFVLCP*

Gene Symbol:	SLC2A8
Accession:	XM_047423290
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPEDPEETQPLLGPPGVSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAAAVGGQRRHVLCRDHL*

Gene Symbol:	SLC2A8
Accession:	XM_006717084
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPEDPEETQPLLGPPGVSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGAVVTLGA AAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQDVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSC VQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLLMCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAE QSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFYAETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRL LLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAPVSAQPVDASVGLAWLAVGSMCLFIAGFAVGWGPIPWLLMSEI FPLHVKGVATGICVLTNWLMAFLVTKEFSSLMLLLLL*

Gene Symbol:	SLC2A8
Accession:	XM_047423286
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPEDPEETQPLLGPPGVSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAGWVLEWRWLAVLGCVPPSLMLLL MCFMPETPRFLLTQHRRQEAMAALRFLWGSEQGWEDPPIGAEQSFHLALLRQPGIYKPFIIGVSLMAFQQLSGVNAVMFY AETIFEEAKFKDSSLASVVVGVIQVLFTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFGAYFKLTQGGPGNSSHVAISAP VSAQPVDASVGLAWLAVGSMCLFIAGFAVGWGPIPWLLMSEIFPLHVKGVATGICVLTNWLMAFLVTKEFSSLMLLLLL*

Gene Symbol:	SLC2A8
Accession:	XM_047423289
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPEDPEETQPLLGPPGVSAPRGRRVFLAAFAAALGPLSFGFALGYSSPAIPSLQRAAPPAPRLDDAAASWFGVRPRARS SRPGTPRPPLGTGIGTLRPPPFPSGQASGPAATTFPHETGIGPLCPPSLPSGRASSPSAPTPPLGTSTGPLSPLPLPSGR ARGPGSFTSEPAGSGWRGRMGCGFGAPSSAAARLQAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVITAAQ DVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAELSPGPAAAARHLQALHHRRLPD GLPAAVGGQRRHVLCRDHL*

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

Gene Symbol:	SLC2A8
Accession:	XM_011518603
Location:	INTRON

Gene Symbol:	SLC2A8
Accession:	XM_011518604
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004196734	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	LOC130002645	CLINVAR
	SLC2A8	CLINVAR
OMIM	605245	CLINVAR

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Variant: RGD:155975268 - Homo sapiens