spastic ataxia of Charlevoix-Saguenay (sacsin) [Source:HGNC Symbol;Acc:10519]
13
23902965
24007841
-1
q12.12
23902965
23949682
SACS
SACS-003
HGNC Symbol
HGNC transcript name
6
41.25
protein_coding
protein_coding
ensembl_hava
havana
KNOWN
KNOWN
26278
10519
SACS
NM_001278055
27513
MSeqDR Master Exome Data Set M1: 526 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
13
23902983
T
A
ENST00000382292
ENSG00000151835
23902965
24007841
ENSP00000371729
SACS
-1
SACS_HUMAN
-
-
3'_UTR
rs147476665
0.058
-
lod=253:561
-
-
-
het
11
2
13
23902983
T
A
ENST00000382298
ENSG00000151835
23902965
24007841
ENSP00000371735
SACS
-1
SACS_HUMAN
-
-
3'_UTR
rs147476665
0.058
-
lod=253:561
-
-
-
het
11
3
13
23902983
T
A
ENST00000402364
ENSG00000151835
23902965
24007841
ENSP00000385844
SACS
-1
SACS_HUMAN
-
-
3'_UTR
rs147476665
0.058
-
lod=253:561
-
-
-
het
11
4
13
23902983
T
A
ENST00000423156
ENSG00000151835
23902965
24007841
ENSP00000390925
SACS
-1
-
-
-
3'_UTR
rs147476665
0.058
-
lod=253:561
-
-
-
het
11
5
13
23902983
T
A
ENST00000455470
ENSG00000151835
23902965
24007841
ENSP00000406565
SACS
-1
-
-
-
3'_UTR
rs147476665
0.058
-
lod=253:561
-
-
-
het
11
6
13
23903118
G
T
ENST00000382292
ENSG00000151835
23902965
24007841
ENSP00000371729
SACS
-1
SACS_HUMAN
-
-
3'_UTR
NA
-
-
lod=110:472
-
-
-
het
1
7
13
23903118
G
T
ENST00000382298
ENSG00000151835
23902965
24007841
ENSP00000371735
SACS
-1
SACS_HUMAN
-
-
3'_UTR
NA
-
-
lod=110:472
-
-
-
het
1
8
13
23903118
G
T
ENST00000402364
ENSG00000151835
23902965
24007841
ENSP00000385844
SACS
-1
SACS_HUMAN
-
-
3'_UTR
NA
-
-
lod=110:472
-
-
-
het
1
9
13
23903118
G
T
ENST00000423156
ENSG00000151835
23902965
24007841
ENSP00000390925
SACS
-1
-
-
-
3'_UTR
NA
-
-
lod=110:472
-
-
-
het
1
10
13
23903118
G
T
ENST00000455470
ENSG00000151835
23902965
24007841
ENSP00000406565
SACS
-1
-
-
-
3'_UTR
NA
-
-
lod=110:472
-
-
-
het
1
11
13
23903128
A
C
ENST00000382292
ENSG00000151835
23902965
24007841
ENSP00000371729
SACS
-1
SACS_HUMAN
-
-
3'_UTR
NA
-
-
lod=110:472
-
-
-
het
1
12
13
23903128
A
C
ENST00000382298
ENSG00000151835
23902965
24007841
ENSP00000371735
SACS
-1
SACS_HUMAN
-
-
3'_UTR
NA
-
-
lod=110:472
-
-
-
het
1
13
13
23903128
A
C
ENST00000402364
ENSG00000151835
23902965
24007841
ENSP00000385844
SACS
-1
SACS_HUMAN
-
-
3'_UTR
NA
-
-
lod=110:472
-
-
-
het
1
14
13
23903128
A
C
ENST00000423156
ENSG00000151835
23902965
24007841
ENSP00000390925
SACS
-1
-
-
-
3'_UTR
NA
-
-
lod=110:472
-
-
-
het
1
15
13
23903128
A
C
ENST00000455470
ENSG00000151835
23902965
24007841
ENSP00000406565
SACS
-1
-
-
-
3'_UTR
NA
-
-
lod=110:472
-
-
-
het
1
16
13
23903219
T
-TAAAG
ENST00000382292
ENSG00000151835
23902965
24007841
ENSP00000371729
SACS
-1
SACS_HUMAN
-
-
3'_UTR
rs66920661
-
-
-
-
-
-
het
103
17
13
23903219
T
-TAAAG
ENST00000382292
ENSG00000151835
23902965
24007841
ENSP00000371729
SACS
-1
SACS_HUMAN
-
-
3'_UTR
rs66920661
-
-
-
-
-
-
hom
4
18
13
23903219
T
-TAAAG
ENST00000382298
ENSG00000151835
23902965
24007841
ENSP00000371735
SACS
-1
SACS_HUMAN
-
-
3'_UTR
rs66920661
-
-
-
-
-
-
het
103
19
13
23903219
T
-TAAAG
ENST00000382298
ENSG00000151835
23902965
24007841
ENSP00000371735
SACS
-1
SACS_HUMAN
-
-
3'_UTR
rs66920661
-
-
-
-
-
-
hom
4
20
13
23903219
T
-TAAAG
ENST00000402364
ENSG00000151835
23902965
24007841
ENSP00000385844
SACS
-1
SACS_HUMAN
-
-
3'_UTR
rs66920661
-
-
-
-
-
-
het
103
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