RGD:13815817 Rat Genome Database

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Variant: RGD:13815817 -  Homo sapiens

RGD ID: 13815817
RS ID: rs1166880307
ClinVar ID: CV567530
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127460813  SLC52A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 145,583,757
GRCh38 8 144,360,097
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.144360097C>T
NC_000008.10:g.145583757C>T
NP_001240745.1:p.Ala202Val
NP_078807.1:p.Ala202Val
More... 		01/12/2018 intron variant uncertain significance Riboflavin transporter deficiency type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC52A2
Accession:NM_024531
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTVLLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:NM_001363120
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTVLLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:XM_047422215
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTVLLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:NM_001253815
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTVLLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCVLALVQGVG
RLECPPAPINGTPGPPLDFLERFPASTFFWALTVLLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEVEESS
PLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLACFLA
MGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPALLAA
GVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:XM_047422213
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTVLLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:NM_001253816
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTVLLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:XM_047422214
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTVLLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:NM_001363121
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTVLLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:NM_001363118
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTVLLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:NM_001410949
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCVLALVQGVG
RLECPPAPINGTPGPPLDFLERFPASTFFWALTVLLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEVEESS
PLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLACFLA
MGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPALLAA
GVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

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

Gene Symbol:SLC52A2
Accession:XM_017013822
Location:INTRON

Gene Symbol:SLC52A2
Accession:NM_001363122
Location:INTRON

Gene Symbol:SLC52A2
Accession:XM_047422217
Location:INTRON

Gene Symbol:SLC52A2
Accession:XM_047422216
Location:INTRON

Gene Symbol:SLC52A2
Accession:XM_017013821
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000691887 CLINVAR
dbSNP (RS) rs1166880307 CLINVAR
MedGen C3553538 CLINVAR
NCBI Gene SLC52A2 CLINVAR
OMIM 607882 CLINVAR
  614707 CLINVAR