cytochrome c oxidase subunit VIIb [Source:HGNC Symbol;Acc:2291]
X
77154935
77162870
1
q21.1
77154935
77160772
COX7B
COX7B-002
HGNC Symbol
HGNC transcript name
3
40.81
protein_coding
processed_transcript
ensembl_hava
havana
KNOWN
KNOWN
1349
2291
COX7B
27516
Please limit to single gene from the list by clicking or searching from top right search box.
MSeqDR Master Exome Data Set M1: 18 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
X
77155004
C
G
ENST00000373335
ENSG00000131174
77154935
77162870
-
COX7B
1
-
c.70C>G
p.H24D
non-syn
NA
-
G=3/C=6720;G=0/C=3835;G=3/C=10555
-
-
-
-
het
1
2
X
77155004
C
G
ENST00000475465
ENSG00000131174
77154935
77162870
-
COX7B
1
-
c.45C>G
p.G15G
syn
NA
-
G=3/C=6720;G=0/C=3835;G=3/C=10555
-
-
-
-
het
1
3
X
77155004
C
G
ENST00000481445
ENSG00000131174
77154935
77162870
ENSP00000417656
COX7B
1
COX7B_HUMAN
-
-
5'_UTR
NA
-
G=3/C=6720;G=0/C=3835;G=3/C=10555
-
-
-
-
het
1
4
X
77158300
G
A
ENST00000475465
ENSG00000131174
77154935
77162870
-
COX7B
1
-
c.292G>A
p.V98I
non-syn
rs143653330
0.0056
A=40/G=6688;A=2/G=3833;A=42/G=10521
-
-
-
-
het
2
5
X
77158300
G
A
ENST00000475465
ENSG00000131174
77154935
77162870
-
COX7B
1
-
c.292G>A
p.V98I
non-syn
rs143653330
0.0056
A=40/G=6688;A=2/G=3833;A=42/G=10521
-
-
-
-
hom
1
6
X
77160840
G
T
ENST00000481445
ENSG00000131174
77154935
77162870
ENSP00000417656
COX7B
1
COX7B_HUMAN
-
-
3'_UTR
rs41304464
0.00682
-
-
-
-
-
het
2
7
X
77160978
G
-TTT
ENST00000481445
ENSG00000131174
77154935
77162870
ENSP00000417656
COX7B
1
COX7B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
1
8
X
77161275
A
G
ENST00000481445
ENSG00000131174
77154935
77162870
ENSP00000417656
COX7B
1
COX7B_HUMAN
-
-
3'_UTR
rs5912528
1
-
-
-
-
-
hom
1
9
X
77161524
C
T
ENST00000481445
ENSG00000131174
77154935
77162870
ENSP00000417656
COX7B
1
COX7B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
10
X
77161524
C
T
ENST00000481445
ENSG00000131174
77154935
77162870
ENSP00000417656
COX7B
1
COX7B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
1
11
X
77161566
G
A
ENST00000481445
ENSG00000131174
77154935
77162870
ENSP00000417656
COX7B
1
COX7B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
4
12
X
77162312
A
C
ENST00000481445
ENSG00000131174
77154935
77162870
ENSP00000417656
COX7B
1
COX7B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
13
X
77162468
G
-TTGTT
ENST00000481445
ENSG00000131174
77154935
77162870
ENSP00000417656
COX7B
1
COX7B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
8
14
X
77162488
G
+T
ENST00000481445
ENSG00000131174
77154935
77162870
ENSP00000417656
COX7B
1
COX7B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
4
15
X
77162571
A
T
ENST00000481445
ENSG00000131174
77154935
77162870
ENSP00000417656
COX7B
1
COX7B_HUMAN
-
-
3'_UTR
rs192192967
0.0073
-
-
-
-
-
het
1
16
X
77162806
A
G
ENST00000481445
ENSG00000131174
77154935
77162870
ENSP00000417656
COX7B
1
COX7B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
17
X
77162806
A
G
ENST00000481445
ENSG00000131174
77154935
77162870
ENSP00000417656
COX7B
1
COX7B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
2
18
X
77162817
C
T
ENST00000481445
ENSG00000131174
77154935
77162870
ENSP00000417656
COX7B
1
COX7B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
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