RGD:28903242 Rat Genome Database

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Variant: RGD:28903242 -  Homo sapiens

RGD ID: 28903242
RS ID: rs750899874
ClinVar ID: CV892533
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNCA  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 90,650,353
GRCh38 4 89,729,202
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007308.3:c.307-2542C>A
NM_001375288.1:c.382C>A
NG_011851.1:g.114095C>A
NC_000004.12:g.89729202G>T
More... 		01/13/2018 intron variant uncertain significance Autosomal dominant diffuse Lewy body disease; Autosomal dominant Parkinson disease 1; Diffuse Lewy body disease; Lewy Body Disease; Parkinson disease 1
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Lewy bodies  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:SNCA
Accession:NM_001146055
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVFMKGLSKAKEGVVAAAEKTKQGVAEAAGKTKEGVLYVGSKTKEGVVHGVATVAEKTKEQVTNVGGAVVTGVTAVAQK
TVEGAGSIAAATGFVKKDQLGKNEEGAPQEGILEDMPVDPDNEAYEMTSEEGYQDYEPEA*

Gene Symbol:SNCA
Accession:NM_000345
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVFMKGLSKAKEGVVAAAEKTKQGVAEAAGKTKEGVLYVGSKTKEGVVHGVATVAEKTKEQVTNVGGAVVTGVTAVAQK
TVEGAGSIAAATGFVKKDQLGKNEEGAPQEGILEDMPVDPDNEAYEMTSEEGYQDYEPEA*

Gene Symbol:SNCA
Accession:NM_001375290
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPIRRKQKGTAYLRKLIRNSASRSGENWRNGHETLRTSAFDVPFDLLCSSSCTQNEEGAPQEGILEDMPVDPDNEAYEMT
SEEGYQDYEPEA*

Gene Symbol:SNCA
Accession:NM_001375288
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVFMKGLSKAKEGVVAAAEKTKQGVAEAAGKTKEGVLYVGSKTKEGVVHGVATVAEKTKEQVTNVGGAVVTGVTAVAQK
TVEGAGSIAAATGFVKKDQLGKNEEGAPQEGILEDMPVDPDNEAYEMTSEEGYQDYEPEA*

Gene Symbol:SNCA
Accession:NM_001375286
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVFMKGLSKAKEGVVAAAEKTKQGVAEAAGKTKEGVLYVGSKTKEGVVHGVATVAEKTKEQVTNVGGAVVTGVTAVAQK
TVEGAGSIAAATGFVKKDQLGKNEEGAPQEGILEDMPVDPDNEAYEMTSEEGYQDYEPEA*

Gene Symbol:SNCA
Accession:NM_001146054
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVFMKGLSKAKEGVVAAAEKTKQGVAEAAGKTKEGVLYVGSKTKEGVVHGVATVAEKTKEQVTNVGGAVVTGVTAVAQK
TVEGAGSIAAATGFVKKDQLGKNEEGAPQEGILEDMPVDPDNEAYEMTSEEGYQDYEPEA*

Gene Symbol:SNCA
Accession:NM_001375285
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVFMKGLSKAKEGVVAAAEKTKQGVAEAAGKTKEGVLYVGSKTKEGVVHGVATVAEKTKEQVTNVGGAVVTGVTAVAQK
TVEGAGSIAAATGFVKKDQLGKNEEGAPQEGILEDMPVDPDNEAYEMTSEEGYQDYEPEA*

Gene Symbol:SNCA
Accession:NM_001375287
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVFMKGLSKAKEGVVAAAEKTKQGVAEAAGKTKEGVLYVGSKTKEGVVHGVATVAEKTKEQVTNVGGAVVTGVTAVAQK
TVEGAGSIAAATGFVKKDQLGKNEEGAPQEGILEDMPVDPDNEAYEMTSEEGYQDYEPEA*

Gene Symbol:SNCA
Accession:NR_164674
Location:EXON;NON-CODING

Gene Symbol:SNCA
Accession:NR_164676
Location:EXON;NON-CODING

Gene Symbol:SNCA
Accession:NR_164675
Location:EXON;NON-CODING

Gene Symbol:SNCA
Accession:NM_007308
Location:INTRON

Gene Symbol:SNCA
Accession:XM_011532204
Location:INTRON

Gene Symbol:SNCA
Accession:XM_011532206
Location:INTRON

Gene Symbol:SNCA
Accession:XM_011532203
Location:INTRON

Gene Symbol:SNCA
Accession:XM_047416097
Location:INTRON

Gene Symbol:SNCA
Accession:XM_011532205
Location:INTRON

Gene Symbol:SNCA
Accession:XM_011532207
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001157476 CLINVAR
  RCV003769755 CLINVAR
dbSNP (RS) rs750899874 CLINVAR
MedGen C0752347 CLINVAR
  CN239359 CLINVAR
NCBI Gene SNCA CLINVAR
OMIM 127750 CLINVAR
  163890 CLINVAR
  168601 CLINVAR