RGD:12833712 Rat Genome Database

Variant: RGD:12833712 - Homo sapiens

RGD ID:

12833712

RS ID:

rs201213634

ClinVar ID:

CV369862

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SLC52A2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	145,583,330
GRCh38	8	144,359,670

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_001363122.2:c.130+247C>T NM_001253815.2:c.178C>T NM_001363118.2:c.178C>T NM_001363120.2:c.178C>T More...	10/18/2016	intron variant\|synonymous variant	likely benign	AllHighlyPenetrant; 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:	5UTRS;EXON

Gene Symbol:	SLC52A2
Accession:	NM_001410949
Location:	5UTRS;EXON

Gene Symbol:	SLC52A2
Accession:	XM_047422214
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	60

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

Gene Symbol:	SLC52A2
Accession:	XM_047422215
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	60

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

Gene Symbol:	SLC52A2
Accession:	NM_001363121
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	60

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

Gene Symbol:	SLC52A2
Accession:	NM_001253816
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	60

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

Gene Symbol:	SLC52A2
Accession:	NM_001363120
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	60

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

Gene Symbol:	SLC52A2
Accession:	NM_001253815
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	60

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

Gene Symbol:	SLC52A2
Accession:	NM_001363118
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	60

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

Gene Symbol:	SLC52A2
Accession:	XM_047422213
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	60

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

Gene Symbol:	SLC52A2
Accession:	NM_024531
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	60

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

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

Gene Symbol:	SLC52A2
Accession:	XM_017013821
Location:	INTRON

Gene Symbol:	SLC52A2
Accession:	XM_047422216
Location:	INTRON

Gene Symbol:	SLC52A2
Accession:	XM_017013822
Location:	INTRON

Gene Symbol:	SLC52A2
Accession:	XM_047422217
Location:	INTRON

Gene Symbol:	SLC52A2
Accession:	NM_001363122
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000419026	CLINVAR
	RCV002411391	CLINVAR
	RCV002522556	CLINVAR
dbSNP (RS)	rs201213634	CLINVAR
MedGen	C0950123	CLINVAR
	C3553538	CLINVAR
	CN169374	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)

Create Name:

Description:

Send us a Message

Variant: RGD:12833712 - Homo sapiens

Imported Disease Annotations - ClinVar