RGD:11524045 Rat Genome Database

Variant: RGD:11524045 - Homo sapiens

RGD ID:

11524045

RS ID:

rs879253962

ClinVar ID:

CV244514

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SLC52A2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	145,583,060
GRCh38	8	144,359,400

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.144359400T>G NC_000008.10:g.145583060T>G NP_001240745.1:p.Val36Gly NP_078807.1:p.Val36Gly More...	07/15/2015	intron variant\|missense variant	likely pathogenic	none provided

Variant Details

Variant Transcripts

Gene Symbol:	SLC52A2
Accession:	NM_024531
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	36

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

Gene Symbol:	SLC52A2
Accession:	XM_047422215
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	36

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

Gene Symbol:	SLC52A2
Accession:	NM_001363122
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPGVVKELPEAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEV EESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLA CFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPA LLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	NM_001363118
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	36

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

Gene Symbol:	SLC52A2
Accession:	NM_001363121
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	36

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

Gene Symbol:	SLC52A2
Accession:	NM_001253815
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	36

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

Gene Symbol:	SLC52A2
Accession:	XM_017013822
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPGVVKELPEAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEV EESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLA CFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPA LLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	XM_047422213
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	36

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

Gene Symbol:	SLC52A2
Accession:	XM_017013821
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPGVVKELPEAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEV EESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLA CFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPA LLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	NM_001363120
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	36

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

Gene Symbol:	SLC52A2
Accession:	XM_047422217
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPGVVKELPEAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEV EESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLA CFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPA LLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	NM_001253816
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	36

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

Gene Symbol:	SLC52A2
Accession:	XM_047422216
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPGVVKELPEAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEV EESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLA CFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPA LLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:	SLC52A2
Accession:	XM_047422214
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	36

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

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	SLC52A2
Accession:	NM_001410949
Location:	INTRON

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000237012	CLINVAR
dbSNP (RS)	rs879253962	CLINVAR
MedGen	CN517202	CLINVAR
NCBI Gene	SLC52A2	CLINVAR
OMIM	607882	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)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:11524045 - Homo sapiens