mitochondrially encoded cytochrome c oxidase III [Source:HGNC Symbol;Acc:7422]
M
9207
9990
1
9207
9990
MT-CO3
MT-CO3-201
HGNC Symbol
HGNC transcript name
1
46.56
protein_coding
protein_coding
insdc
insdc
KNOWN
KNOWN
4514
7422
MT-CO3
100965601
MSeqDR Master Exome Data Set M1: 81 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
M
9211
C
T
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.5C>T
p.T2I
non-syn
NA
-
-
lod=105:467
-
-
-
het
2
2
M
9221
A
G
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.15A>G
p.S5S
syn
rs7520428
-
-
lod=105:467
-
-
-
hom
8
3
M
9233
T
C
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.27T>C
p.H9H
syn
NA
-
-
lod=53:393
-
-
-
hom
2
4
M
9254
A
G
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.48A>G
p.W16W
syn
rs2096045
-
-
lod=44:374
-
-
-
hom
3
5
M
9261
A
G
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.55A>G
p.T19A
non-syn
NA
-
-
lod=23:304
-
-
-
het
1
6
M
9266
G
A
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.60G>A
p.G20G
syn
NA
-
-
lod=23:304
-
-
-
hom
11
7
M
9266
G
A
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.60G>A
p.G20G
syn
NA
-
-
lod=23:304
-
-
-
het
2
8
M
9300
G
A
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.94G>A
p.A32T
non-syn
rs9700408
-
-
-
-
-
-
hom
6
9
M
9302
C
T
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.96C>T
p.A32A
syn
NA
-
-
-
-
-
-
hom
2
10
M
9308
A
G
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.102A>G
p.W34W
syn
NA
-
-
lod=38:358
-
-
-
hom
3
11
M
9323
C
T
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.117C>T
p.S39S
syn
NA
-
-
-
-
-
-
hom
3
12
M
9335
C
T
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.129C>T
p.L43L
syn
NA
-
-
-
-
-
-
hom
5
13
M
9347
A
G
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.141A>G
p.L47L
syn
rs2853824
-
-
-
-
-
-
het
1
14
M
9347
A
G
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.141A>G
p.L47L
syn
rs2853824
-
-
-
-
-
-
hom
8
15
M
9365
C
T
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.159C>T
p.T53T
syn
NA
-
-
lod=13:243
-
-
-
hom
2
16
M
9368
A
G
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.162A>G
p.M54M
syn
NA
-
-
lod=15:259
-
-
-
hom
2
17
M
9374
A
G
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.168A>G
p.Q56Q
syn
NA
-
-
lod=100:461
-
-
-
hom
1
18
M
9377
A
G
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.171A>G
p.W57W
syn
rs112966229
-
-
lod=100:461
-
-
-
hom
2
19
M
9380
G
A
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.174G>A
p.W58W
syn
NA
-
-
lod=100:461
-
-
-
hom
9
20
M
9386
T
C
ENST00000362079
ENSG00000198938
9207
9990
ENSP00000354982
MT-CO3
1
COX3_HUMAN
c.180T>C
p.D60D
syn
NA
-
-
lod=100:461
-
-
-
hom
2
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