RGD:151861040 Rat Genome Database

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Variant: RGD:151861040 -  Homo sapiens

RGD ID: 151861040
RS ID: rs2063475090
ClinVar ID: CV1374165
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC35A2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 48,762,081
GRCh38 X 48,904,804
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282648.2:c.443C>T
NM_001032289.3:c.515C>T
NM_001282647.2:c.515C>T
NM_001282649.2:c.922C>T
More... 		09/17/2021 missense variant 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; SLC35A2-CDG
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC35A2
Accession:NM_001282649
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 308
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATF
QVTYQLKILTTALFSVLMLNRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFE
KILKGSSGSVWLRNLQLGLFGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFAT
SLSIVLSTVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPSPPQLSSHRGDLI
TEPFLPKSVLVK*

Gene Symbol:SLC35A2
Accession:NM_005660
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 369
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVLVVQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGL
TCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQVTYQLKILTTALFSVLML
NRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGL
FGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHV
DPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPSPPQLSSHRGDLITEPFLPKLLTKVKGS*

Gene Symbol:SLC35A2
Accession:NM_001282647
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVLVVQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGL
TCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQPSPRCSQSHSLCLCLRLR
ALRSPAASRAAITTAAVFPPWRPHHGALSAKVAHQGEGFLAAGIEDIGLASFSLLALGPAGTKL*

Gene Symbol:SLC35A2
Accession:NM_001042498
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 369
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVLVVQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGL
TCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQVTYQLKILTTALFSVLML
NRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGL
FGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHV
DPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPSPPQLSSHRGDLITEPFLPKSVLVK*

Gene Symbol:SLC35A2
Accession:NM_001032289
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVLVVQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGL
TCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQPSPRCSQSHSLCLCLRLR
ALRSPAASRAAITTAAVFPPWRPHHGALSAKVSAGEVRAGSNGGTQGRGTGVEGVGHLQDPSRHPPGPGSSGFGRWSFLP
GH*

Gene Symbol:SLC35A2
Accession:NM_001282648
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLCRDAHRRLKYISLAVLVVQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGLTCLLLLFAQKRGNVKHLVLFLHEA
VLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQPSPRCSQSHSLCLCLRLRALRSPAASRAAITTAAVFPPWRPH
HGALSAKVSAGEVRAGSNGGTQGRGTGVEGVGHLQDPSRHPPGPGSSGFGRWSFLPGH*

Gene Symbol:SLC35A2
Accession:NM_001282650
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 382
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAGETVCPSSRMGGGAHRRLKYISLAVLVVQNASLILSIRYARTLPGDRFFA
TTAVVMAEVLKGLTCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQVTYQL
KILTTALFSVLMLNRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGS
SGSVWLRNLQLGLFGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVL
STVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPSPPQLSSHRGDLITEPFLP
KSVLVK*

Gene Symbol:SLC35A2
Accession:NM_001282651
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 397
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVGAGGSTAAPGPGAVSAGALEPGTASAELLLTWEEAEARGQGLPQPLPDTSVRIPAHRRLKYISLAVLVVQNASLIL
SIRYARTLPGDRFFATTAVVMAEVLKGLTCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVA
ISNLPAATFQVTYQLKILTTALFSVLMLNRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLS
SGFAGVYFEKILKGSSGSVWLRNLQLGLFGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYA
DNILKGFATSLSIVLSTVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPSPPQ
LSSHRGDLITEPFLPKSVLVK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001938547 CLINVAR
dbSNP (RS) rs2063475090 CLINVAR
MedGen C3806688 CLINVAR
NCBI Gene SLC35A2 CLINVAR
OMIM 300896 CLINVAR
  314375 CLINVAR