cytochrome c oxidase assembly homolog 15 (yeast) [Source:HGNC Symbol;Acc:2263]
10
101471601
101491857
-1
q24.2
101471601
101491857
COX15
COX15-002
HGNC Symbol
HGNC transcript name
3
42.42
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
1355
2263
COX15
NM_078470
27525
MSeqDR Master Exome Data Set M1: 57 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
10
101471695
C
T
ENST00000370483
ENSG00000014919
101471601
101491857
ENSP00000359514
COX15
-1
COX15_HUMAN
-
-
3'_UTR
rs1128642
0.27953
-
-
-
-
-
het
85
2
10
101471695
C
T
ENST00000370483
ENSG00000014919
101471601
101491857
ENSP00000359514
COX15
-1
COX15_HUMAN
-
-
3'_UTR
rs1128642
0.27953
-
-
-
-
-
hom
15
3
10
101471907
C
G
ENST00000370483
ENSG00000014919
101471601
101491857
ENSP00000359514
COX15
-1
COX15_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
4
10
101472097
G
A
ENST00000370483
ENSG00000014919
101471601
101491857
ENSP00000359514
COX15
-1
COX15_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
5
10
101472468
T
C
ENST00000370483
ENSG00000014919
101471601
101491857
ENSP00000359514
COX15
-1
COX15_HUMAN
-
-
3'_UTR
rs115287270
0.024
-
-
-
-
-
het
3
6
10
101472750
G
C
ENST00000370483
ENSG00000014919
101471601
101491857
ENSP00000359514
COX15
-1
COX15_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
7
10
101473035
A
G
ENST00000370483
ENSG00000014919
101471601
101491857
ENSP00000359514
COX15
-1
COX15_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
8
10
101473086
C
A
ENST00000370483
ENSG00000014919
101471601
101491857
ENSP00000359514
COX15
-1
COX15_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
9
10
101473091
C
T
ENST00000370483
ENSG00000014919
101471601
101491857
ENSP00000359514
COX15
-1
COX15_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
10
10
101473147
A
G
ENST00000370483
ENSG00000014919
101471601
101491857
ENSP00000359514
COX15
-1
COX15_HUMAN
-
-
3'_UTR
rs149696723
0.0157
G=4/A=8596;G=111/A=4295;G=115/A=12891
-
-
-
-
het
2
11
10
101473218
A
G
ENST00000370483
ENSG00000014919
101471601
101491857
ENSP00000359514
COX15
-1
COX15_HUMAN
c.1120T>C
p.F374L
non-syn
rs2231687
0.85727
G=7510/A=1090;G=3348/A=1058;G=10858/A=2148
-
TOLERATED
NA
-
hom
732
12
10
101473218
A
G
ENST00000370483
ENSG00000014919
101471601
101491857
ENSP00000359514
COX15
-1
COX15_HUMAN
c.1120T>C
p.F374L
non-syn
rs2231687
0.85727
G=7510/A=1090;G=3348/A=1058;G=10858/A=2148
-
TOLERATED
NA
-
het
182
13
10
101473385
T
A
ENST00000016171
ENSG00000014919
101471601
101491857
ENSP00000016171
COX15
-1
COX15_HUMAN
-
-
3'_UTR
rs190507435
0.0021
-
-
-
-
-
het
1
14
10
101473424
A
G
ENST00000016171
ENSG00000014919
101471601
101491857
ENSP00000016171
COX15
-1
COX15_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
15
10
101473453
G
A
ENST00000016171
ENSG00000014919
101471601
101491857
ENSP00000016171
COX15
-1
COX15_HUMAN
-
-
3'_UTR
rs183112534
0.0015
-
-
-
-
-
het
5
16
10
101473502
G
A
ENST00000016171
ENSG00000014919
101471601
101491857
ENSP00000016171
COX15
-1
COX15_HUMAN
-
-
3'_UTR
rs186268155
0.006
-
-
-
-
-
het
2
17
10
101473535
C
T
ENST00000016171
ENSG00000014919
101471601
101491857
ENSP00000016171
COX15
-1
COX15_HUMAN
-
-
3'_UTR
rs7073616
0.8398
-
-
-
-
-
het
139
18
10
101473535
C
T
ENST00000016171
ENSG00000014919
101471601
101491857
ENSP00000016171
COX15
-1
COX15_HUMAN
-
-
3'_UTR
rs7073616
0.8398
-
-
-
-
-
hom
508
19
10
101473692
T
C
ENST00000016171
ENSG00000014919
101471601
101491857
ENSP00000016171
COX15
-1
COX15_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
20
10
101473728
C
-A
ENST00000016171
ENSG00000014919
101471601
101491857
ENSP00000016171
COX15
-1
COX15_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
51
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