translational activator of mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:24316]
17
61678231
61685725
1
q23.3
61678231
61685725
TACO1
TACO1-001
HGNC Symbol
HGNC transcript name
2
49.33
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
51204
24316
TACO1
NM_016360
27509
MSeqDR Master Exome Data Set M1: 10 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
61682008
C
A
ENST00000258975
ENSG00000136463
61678231
61685725
ENSP00000258975
TACO1
1
TACO1_HUMAN
-
-
+8bp 5'_splice_site
NA
-
-
-
-
-
-
het
2
2
17
61682008
C
A
ENST00000581120
ENSG00000136463
61678231
61685725
-
TACO1
1
-
-
-
+8bp 5'_splice_site
NA
-
-
-
-
-
-
het
2
3
17
61683718
G
A
ENST00000258975
ENSG00000136463
61678231
61685725
ENSP00000258975
TACO1
1
TACO1_HUMAN
c.433G>A
p.G145S
non-syn
rs35252424
0.0368
A=2/G=8598;A=193/G=4213;A=195/G=12811
lod=208:540
DAMAGING
D
-
het
9
4
17
61683718
G
A
ENST00000581120
ENSG00000136463
61678231
61685725
-
TACO1
1
-
c.635G>A
p.W212*
non-syn
rs35252424
0.0368
A=2/G=8598;A=193/G=4213;A=195/G=12811
lod=208:540
DAMAGING
D
-
het
9
5
17
61683783
T
C
ENST00000258975
ENSG00000136463
61678231
61685725
ENSP00000258975
TACO1
1
TACO1_HUMAN
c.498T>C
p.H166H
syn
rs17549732
0.00093
C=31/T=8569;C=3/T=4403;C=34/T=12972
lod=118:479
-
-
-
het
7
6
17
61683783
T
C
ENST00000581120
ENSG00000136463
61678231
61685725
-
TACO1
1
-
c.700T>C
p.Y234H
non-syn
rs17549732
0.00093
C=31/T=8569;C=3/T=4403;C=34/T=12972
lod=118:479
-
-
-
het
7
7
17
61683854
C
A
ENST00000581120
ENSG00000136463
61678231
61685725
-
TACO1
1
-
c.771C>A
p.F257L
non-syn
rs201718060
-
-
-
-
-
-
het
4
8
17
61683854
C
A
ENST00000581120
ENSG00000136463
61678231
61685725
-
TACO1
1
-
c.771C>A
p.F257L
non-syn
rs201718060
-
-
-
-
-
-
hom
1
9
17
61684629
T
A
ENST00000258975
ENSG00000136463
61678231
61685725
ENSP00000258975
TACO1
1
TACO1_HUMAN
-
-
-18bp 3'_splice_site
rs138066238
0.00278
A=45/T=8555;A=3/T=4403;A=48/T=12958
-
-
-
-
het
5
10
17
61684629
T
A
ENST00000581120
ENSG00000136463
61678231
61685725
-
TACO1
1
-
c.1546T>A
p.C516S
non-syn
rs138066238
0.00278
A=45/T=8555;A=3/T=4403;A=48/T=12958
-
-
-
-
het
5
** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.
As MSeqDR registered user , your accessible protected data set after login: