SCO1 cytochrome c oxidase assembly protein [Source:HGNC Symbol;Acc:10603]
17
10583654
10601692
-1
p13.1
10583654
10600885
SCO1
SCO1-001
HGNC Symbol
HGNC transcript name
5
39.99
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
6341
10603
SCO1
NM_004589
27509
MSeqDR Master Exome Data Set M1: 82 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
17
10583714
G
C
ENST00000255390
ENSG00000133028
10583654
10601692
ENSP00000255390
SCO1
-1
SCO1_HUMAN
-
-
3'_UTR
rs7512
0.44527
-
-
-
-
-
hom
136
2
17
10583714
G
C
ENST00000255390
ENSG00000133028
10583654
10601692
ENSP00000255390
SCO1
-1
SCO1_HUMAN
-
-
3'_UTR
rs7512
0.44527
-
-
-
-
-
het
303
3
17
10583714
G
C
ENST00000577427
ENSG00000133028
10583654
10601692
ENSP00000463387
SCO1
-1
-
-
-
3'_UTR
rs7512
0.44527
-
-
-
-
-
hom
136
4
17
10583714
G
C
ENST00000577427
ENSG00000133028
10583654
10601692
ENSP00000463387
SCO1
-1
-
-
-
3'_UTR
rs7512
0.44527
-
-
-
-
-
het
303
5
17
10583802
C
T
ENST00000255390
ENSG00000133028
10583654
10601692
ENSP00000255390
SCO1
-1
SCO1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
6
17
10583802
C
T
ENST00000577427
ENSG00000133028
10583654
10601692
ENSP00000463387
SCO1
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
7
17
10583834
G
-T
ENST00000255390
ENSG00000133028
10583654
10601692
ENSP00000255390
SCO1
-1
SCO1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
5
8
17
10583834
G
-T
ENST00000577427
ENSG00000133028
10583654
10601692
ENSP00000463387
SCO1
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
5
9
17
10583848
A
G
ENST00000255390
ENSG00000133028
10583654
10601692
ENSP00000255390
SCO1
-1
SCO1_HUMAN
-
-
3'_UTR
rs141226699
0.0042
-
-
-
-
-
het
4
10
17
10583848
A
G
ENST00000577427
ENSG00000133028
10583654
10601692
ENSP00000463387
SCO1
-1
-
-
-
3'_UTR
rs141226699
0.0042
-
-
-
-
-
het
4
11
17
10584083
T
C
ENST00000255390
ENSG00000133028
10583654
10601692
ENSP00000255390
SCO1
-1
SCO1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
12
17
10584083
T
C
ENST00000577427
ENSG00000133028
10583654
10601692
ENSP00000463387
SCO1
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
13
17
10584116
C
T
ENST00000255390
ENSG00000133028
10583654
10601692
ENSP00000255390
SCO1
-1
SCO1_HUMAN
-
-
3'_UTR
rs2040570
1
-
-
-
-
-
hom
661
14
17
10584116
C
T
ENST00000577427
ENSG00000133028
10583654
10601692
ENSP00000463387
SCO1
-1
-
-
-
3'_UTR
rs2040570
1
-
-
-
-
-
hom
661
15
17
10584122
G
A
ENST00000255390
ENSG00000133028
10583654
10601692
ENSP00000255390
SCO1
-1
SCO1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
16
17
10584122
G
A
ENST00000577427
ENSG00000133028
10583654
10601692
ENSP00000463387
SCO1
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
17
17
10584126
G
A
ENST00000255390
ENSG00000133028
10583654
10601692
ENSP00000255390
SCO1
-1
SCO1_HUMAN
-
-
3'_UTR
rs2662957
0.1085
-
-
-
-
-
hom
1
18
17
10584126
G
A
ENST00000255390
ENSG00000133028
10583654
10601692
ENSP00000255390
SCO1
-1
SCO1_HUMAN
-
-
3'_UTR
rs2662957
0.1085
-
-
-
-
-
het
10
19
17
10584126
G
A
ENST00000577427
ENSG00000133028
10583654
10601692
ENSP00000463387
SCO1
-1
-
-
-
3'_UTR
rs2662957
0.1085
-
-
-
-
-
hom
1
20
17
10584126
G
A
ENST00000577427
ENSG00000133028
10583654
10601692
ENSP00000463387
SCO1
-1
-
-
-
3'_UTR
rs2662957
0.1085
-
-
-
-
-
het
10
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