RGD:13494193 Rat Genome Database

Variant: RGD:13494193 - Homo sapiens

RGD ID:

13494193

RS ID:

rs144912258

ClinVar ID:

CV458099

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127460813 SLC52A2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	145,583,976
GRCh38	8	144,360,316

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_000008.11:g.144360316G>A NC_000008.10:g.145583976G>A NP_001240745.1:p.Arg275His NP_078807.1:p.Arg275His More...	11/09/2019	missense variant	likely benign\|uncertain significance	Riboflavin transporter deficiency type 2

Disease Annotations Click to see Annotation Detail View

Brown-Vialetto-Van Laere syndrome 2 (IAGP)

genetic disease (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCVLALVQGVG RLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEVEESS PLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLACFLA MGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPALLAA GVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	NM_001253815
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	XM_047422215
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	NM_024531
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	NM_001363121
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	NM_001363122
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	111

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEV EESSPLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLA CFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPA LLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	XM_047422214
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	NM_001253816
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	XM_017013822
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	111

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEV EESSPLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLA CFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPA LLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	XM_047422213
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	XM_047422216
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	111

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEV EESSPLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLA CFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPA LLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	NM_001410949
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCVLALVQGVG RLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEVEESS PLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLACFLA MGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPALLAA GVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	XM_017013821
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	111

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEV EESSPLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLA CFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPA LLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	NM_001363118
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	NM_001363120
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	XM_047422217
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	111

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEV EESSPLQEPPSQAAGTTPGPDPKAYQLLSAHSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLA CFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPA LLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	NR_045600
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000536224	CLINVAR
	RCV002413617	CLINVAR
dbSNP (RS)	rs144912258	CLINVAR
MedGen	C0950123	CLINVAR
	C3553538	CLINVAR
NCBI Gene	SLC52A2	CLINVAR
OMIM	607882	CLINVAR
	614707	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:13494193 - Homo sapiens

Imported Disease Annotations - ClinVar