RGD:11601728 Rat Genome Database

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Variant: RGD:11601728 -  Homo sapiens

RGD ID: 11601728
RS ID: rs749998335
ClinVar ID: CV313477
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUSC3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 15,397,894
GRCh38 8 15,540,385
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012141.2:g.5165G>C
NC_000008.11:g.15540385G>C
NC_000008.10:g.15397894G>C
NM_001356429.2:c.-46G>C
More... 		06/14/2016 5 prime utr variant uncertain significance Carbohydrate-deficient glycoprotein syndrome; Congenital disorders of glycosylation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TUSC3
Accession:NM_001413680
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413688
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413690
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413687
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001356429
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413686
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413674
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413673
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_178234
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413685
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413689
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413678
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413683
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413681
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413684
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413676
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413677
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413691
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_006765
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413583
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413675
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413679
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413682
Location:5UTRS;EXON

Gene Symbol:TUSC3
Accession:NM_001413671
Location:5UTRS;INTRON

Gene Symbol:TUSC3
Accession:NM_001413672
Location:5UTRS;INTRON

Gene Symbol:TUSC3
Accession:NM_001413669
Location:5UTRS;INTRON

Gene Symbol:TUSC3
Accession:NR_182197
Location:EXON;NON-CODING

Gene Symbol:TUSC3
Accession:NR_182199
Location:EXON;NON-CODING

Gene Symbol:TUSC3
Accession:NR_182198
Location:EXON;NON-CODING

Gene Symbol:TUSC3
Accession:NR_182196
Location:EXON;NON-CODING

Gene Symbol:TUSC3
Accession:NR_182195
Location:EXON;NON-CODING

Gene Symbol:TUSC3
Accession:XM_047422264
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TUSC3
Accession:XM_047422265
Location:INTRON

Gene Symbol:TUSC3
Accession:NM_001413670
Location:INTRON

Gene Symbol:TUSC3
Accession:XM_047422263
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000284962 CLINVAR
dbSNP (RS) rs749998335 CLINVAR
MedGen C0282577 CLINVAR
NCBI Gene TUSC3 CLINVAR
OMIM 601385 CLINVAR
SNOMED CT 238049009 CLINVAR