RGD:21073711 Rat Genome Database

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Variant: RGD:21073711 -  Homo sapiens

RGD ID: 21073711
RS ID: rs1602344901
ClinVar ID: CV792466
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC35A2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 48,767,237
GRCh38 X 48,909,960
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282647.2:c.128T>C
NM_005660.3:c.128T>C
NM_001282650.2:c.167T>C
NM_001282651.2:c.212T>C
More... 		05/28/2019 intron variant likely pathogenic CDG IIm; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm, SOMATIC MOSAIC; DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22; SLC35A2-CDG
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC35A2
Accession:NM_005660
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVPVVQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGL
TCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQVTYQLKILTTALFSVLML
NRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGL
FGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHV
DPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQLSSHRGDLITEPFLPKLLTKVKGS*

Gene Symbol:SLC35A2
Accession:NM_001042498
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVPVVQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGL
TCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQVTYQLKILTTALFSVLML
NRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGL
FGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHV
DPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQLSSHRGDLITEPFLPKSVLVK*

Gene Symbol:SLC35A2
Accession:NM_001032289
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVPVVQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGL
TCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQPSPRCSQSHSLCLCLRLR
ALRSPAASRAATTTAAVFPPWRPHHGALSAKVSAGEVRAGSNGGTQGRGTGVEGVGHLQDPSRHPPGPGSSGFGRWSFLP
GH*

Gene Symbol:SLC35A2
Accession:NM_001282647
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVPVVQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGL
TCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQPSPRCSQSHSLCLCLRLR
ALRSPAASRAATTTAAVFPPWRPHHGALSAKVAHQGEGFLAAGIEDIGLASFSLLALGPAGTKL*

Gene Symbol:SLC35A2
Accession:NM_001282648
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLCRDAHRRLKYISLAVPVVQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGLTCLLLLFAQKRGNVKHLVLFLHEA
VLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQPSPRCSQSHSLCLCLRLRALRSPAASRAATTTAAVFPPWRPH
HGALSAKVSAGEVRAGSNGGTQGRGTGVEGVGHLQDPSRHPPGPGSSGFGRWSFLPGH*

Gene Symbol:SLC35A2
Accession:NM_001282651
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAELLLTWEEAEARGQGLPQPLPDTSVRIPAHRRLKYISLAVPVVQNASLIL
SIRYARTLPGDRFFATTAVVMAEVLKGLTCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVA
ISNLPAATFQVTYQLKILTTALFSVLMLNRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLS
SGFAGVYFEKILKGSSGSVWLRNLQLGLFGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYA
DNILKGFATSLSIVLSTVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQ
LSSHRGDLITEPFLPKSVLVK*

Gene Symbol:SLC35A2
Accession:NM_001282650
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAGETVCPSSRMGGGAHRRLKYISLAVPVVQNASLILSIRYARTLPGDRFFA
TTAVVMAEVLKGLTCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQVTYQL
KILTTALFSVLMLNRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGS
SGSVWLRNLQLGLFGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVL
STVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQLSSHRGDLITEPFLP
KSVLVK*

Gene Symbol:SLC35A2
Accession:NM_001282649
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000990816 CLINVAR
dbSNP (RS) rs1602344901 CLINVAR
MedGen C3806688 CLINVAR
NCBI Gene SLC35A2 CLINVAR
OMIM 300896 CLINVAR
  314375 CLINVAR