RGD:11523786 Rat Genome Database

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Variant: RGD:11523786 -  Homo sapiens

RGD ID: 11523786
RS ID: rs781903086
ClinVar ID: CV244516
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC52A2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 145,583,528
GRCh38 8 144,359,868
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.144359868T>G
NC_000008.10:g.145583528T>G
NP_001240745.1:p.Cys126Gly
NP_078807.1:p.Cys126Gly
More...
02/23/2022 intron variant|missense variant likely pathogenic|uncertain significance none provided; 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: C to G (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACGASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:NM_001253816
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACGASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:NM_001253815
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACGASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACGASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCVLALVQGVG
RLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEVEESS
PLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLACFLA
MGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPALLAA
GVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:NM_001363118
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACGASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:NM_001363121
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACGASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:NM_001363120
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACGASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:XM_047422214
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACGASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:XM_047422213
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACGASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:XM_047422215
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVP
IRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACGASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCV
LALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAA
NPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGG
GRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS*

Gene Symbol:SLC52A2
Accession:NM_001410949
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACGASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCVLALVQGVG
RLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEVEESS
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:XM_017013821
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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000236546 CLINVAR
  RCV001233090 CLINVAR
dbSNP (RS) rs781903086 CLINVAR
MedGen C3553538 CLINVAR
  CN517202 CLINVAR
NCBI Gene SLC52A2 CLINVAR
OMIM 607882 CLINVAR
  614707 CLINVAR