Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 [Source:HGNC Symbol;Acc:1987]
6
139693393
139695757
-1
q24.1
139693393
139695757
CITED2
CITED2-001
HGNC Symbol
HGNC transcript name
3
53.07
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
10370
1987
CITED2
NM_006079
27515
MSeqDR Master Exome Data Set M1: 107 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
6
139693433
G
T
ENST00000367651
ENSG00000164442
139693393
139695757
ENSP00000356623
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
rs75804913
0.0315
-
lod=3192:832
-
-
-
het
29
2
6
139693433
G
T
ENST00000536159
ENSG00000164442
139693393
139695757
ENSP00000442831
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
rs75804913
0.0315
-
lod=3192:832
-
-
-
het
29
3
6
139693433
G
T
ENST00000537332
ENSG00000164442
139693393
139695757
ENSP00000444198
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
rs75804913
0.0315
-
lod=3192:832
-
-
-
het
29
4
6
139693481
C
T
ENST00000367651
ENSG00000164442
139693393
139695757
ENSP00000356623
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
NA
-
-
lod=3192:832
-
-
-
het
2
5
6
139693481
C
T
ENST00000536159
ENSG00000164442
139693393
139695757
ENSP00000442831
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
NA
-
-
lod=3192:832
-
-
-
het
2
6
6
139693481
C
T
ENST00000537332
ENSG00000164442
139693393
139695757
ENSP00000444198
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
NA
-
-
lod=3192:832
-
-
-
het
2
7
6
139693582
T
-AAA
ENST00000367651
ENSG00000164442
139693393
139695757
ENSP00000356623
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
rs58995027
-
-
lod=3192:832
-
-
-
hom
34
8
6
139693582
T
-AAA
ENST00000367651
ENSG00000164442
139693393
139695757
ENSP00000356623
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
rs58995027
-
-
lod=3192:832
-
-
-
het
137
9
6
139693582
T
-AAA
ENST00000536159
ENSG00000164442
139693393
139695757
ENSP00000442831
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
rs58995027
-
-
lod=3192:832
-
-
-
hom
34
10
6
139693582
T
-AAA
ENST00000536159
ENSG00000164442
139693393
139695757
ENSP00000442831
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
rs58995027
-
-
lod=3192:832
-
-
-
het
137
11
6
139693582
T
-AAA
ENST00000537332
ENSG00000164442
139693393
139695757
ENSP00000444198
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
rs58995027
-
-
lod=3192:832
-
-
-
hom
34
12
6
139693582
T
-AAA
ENST00000537332
ENSG00000164442
139693393
139695757
ENSP00000444198
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
rs58995027
-
-
lod=3192:832
-
-
-
het
137
13
6
139693649
T
-G
ENST00000367651
ENSG00000164442
139693393
139695757
ENSP00000356623
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
NA
-
-
lod=3192:832
-
-
-
hom
1
14
6
139693649
T
+G
ENST00000367651
ENSG00000164442
139693393
139695757
ENSP00000356623
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
rs201308258
-
-
lod=3192:832
-
-
-
het
2
15
6
139693649
T
-G
ENST00000536159
ENSG00000164442
139693393
139695757
ENSP00000442831
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
NA
-
-
lod=3192:832
-
-
-
hom
1
16
6
139693649
T
+G
ENST00000536159
ENSG00000164442
139693393
139695757
ENSP00000442831
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
rs201308258
-
-
lod=3192:832
-
-
-
het
2
17
6
139693649
T
-G
ENST00000537332
ENSG00000164442
139693393
139695757
ENSP00000444198
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
NA
-
-
lod=3192:832
-
-
-
hom
1
18
6
139693649
T
+G
ENST00000537332
ENSG00000164442
139693393
139695757
ENSP00000444198
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
rs201308258
-
-
lod=3192:832
-
-
-
het
2
19
6
139693746
T
A
ENST00000367651
ENSG00000164442
139693393
139695757
ENSP00000356623
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
rs7763870
0.0481
-
lod=3192:832
-
-
-
het
28
20
6
139693746
T
A
ENST00000536159
ENSG00000164442
139693393
139695757
ENSP00000442831
CITED2
-1
CITE2_HUMAN
-
-
3'_UTR
rs7763870
0.0481
-
lod=3192:832
-
-
-
het
28
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