RGD:21070663 Rat Genome Database

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Variant: RGD:21070663 -  Homo sapiens

RGD ID: 21070663
RS ID: rs1557042798
ClinVar ID: CV798316
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC35A2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 48,762,368
GRCh38 X 48,905,091
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282650.2:c.857G>C
NP_001035963.1:p.Gly273Ala
NP_005651.1:p.Gly273Ala
NP_001269579.1:p.Gly286Ala
More... 		02/03/2020 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance 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; none provided; 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: G to A (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVLVVQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGL
TCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQVTYQLKILTTALFSVLML
NRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGL
FGTALGLVGLWWAEGTAVATRGFFFGYTPAVWAVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHV
DPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQLSSHRGDLITEPFLPKLLTKVKGS*

Gene Symbol:SLC35A2
Accession:NM_001042498
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVLVVQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGL
TCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQVTYQLKILTTALFSVLML
NRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGL
FGTALGLVGLWWAEGTAVATRGFFFGYTPAVWAVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHV
DPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQLSSHRGDLITEPFLPKSVLVK*

Gene Symbol:SLC35A2
Accession:NM_001282649
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 212
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATF
QVTYQLKILTTALFSVLMLNRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFE
KILKGSSGSVWLRNLQLGLFGTALGLVGLWWAEGTAVATRGFFFGYTPAVWAVVLNQAFGGLLVAVVVKYADNILKGFAT
SLSIVLSTVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQLSSHRGDLI
TEPFLPKSVLVK*

Gene Symbol:SLC35A2
Accession:NM_001282651
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 301
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAELLLTWEEAEARGQGLPQPLPDTSVRIPAHRRLKYISLAVLVVQNASLIL
SIRYARTLPGDRFFATTAVVMAEVLKGLTCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVA
ISNLPAATFQVTYQLKILTTALFSVLMLNRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLS
SGFAGVYFEKILKGSSGSVWLRNLQLGLFGTALGLVGLWWAEGTAVATRGFFFGYTPAVWAVVLNQAFGGLLVAVVVKYA
DNILKGFATSLSIVLSTVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQ
LSSHRGDLITEPFLPKSVLVK*

Gene Symbol:SLC35A2
Accession:NM_001282650
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAGETVCPSSRMGGGAHRRLKYISLAVLVVQNASLILSIRYARTLPGDRFFA
TTAVVMAEVLKGLTCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQVTYQL
KILTTALFSVLMLNRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGS
SGSVWLRNLQLGLFGTALGLVGLWWAEGTAVATRGFFFGYTPAVWAVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVL
STVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQLSSHRGDLITEPFLP
KSVLVK*

Gene Symbol:SLC35A2
Accession:NM_001032289
Location:INTRON

Gene Symbol:SLC35A2
Accession:NM_001282647
Location:INTRON

Gene Symbol:SLC35A2
Accession:NM_001282648
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000999415 CLINVAR
  RCV001049784 CLINVAR
dbSNP (RS) rs1557042798 CLINVAR
MedGen C3661900 CLINVAR
  C3806688 CLINVAR
NCBI Gene SLC35A2 CLINVAR
OMIM 300896 CLINVAR
  314375 CLINVAR