5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled [Source:HGNC Symbol;Acc:5293]
13
47405685
47471169
-1
q14.2
47405685
47470173
HTR2A
HTR2A-001
HGNC Symbol
HGNC transcript name
3
39.27
protein_coding
protein_coding
ensembl_hava
havana
KNOWN
KNOWN
3356
5293
HTR2A
27513
MSeqDR Master Exome Data Set M1: 116 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
13
47407584
C
A
ENST00000378688
ENSG00000102468
47405685
47471169
ENSP00000367959
HTR2A
-1
5HT2A_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
2
13
47407584
C
A
ENST00000542664
ENSG00000102468
47405685
47471169
ENSP00000437737
HTR2A
-1
5HT2A_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
3
13
47407584
C
A
ENST00000543956
ENSG00000102468
47405685
47471169
ENSP00000441861
HTR2A
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
4
13
47407783
G
A
ENST00000378688
ENSG00000102468
47405685
47471169
ENSP00000367959
HTR2A
-1
5HT2A_HUMAN
-
-
3'_UTR
rs139431449
0.0132
-
-
-
-
-
het
1
5
13
47407783
G
A
ENST00000542664
ENSG00000102468
47405685
47471169
ENSP00000437737
HTR2A
-1
5HT2A_HUMAN
-
-
3'_UTR
rs139431449
0.0132
-
-
-
-
-
het
1
6
13
47407783
G
A
ENST00000543956
ENSG00000102468
47405685
47471169
ENSP00000441861
HTR2A
-1
-
-
-
3'_UTR
rs139431449
0.0132
-
-
-
-
-
het
1
7
13
47407941
C
T
ENST00000378688
ENSG00000102468
47405685
47471169
ENSP00000367959
HTR2A
-1
5HT2A_HUMAN
-
-
3'_UTR
rs149887481
0.00815
-
-
-
-
-
het
11
8
13
47407941
C
T
ENST00000542664
ENSG00000102468
47405685
47471169
ENSP00000437737
HTR2A
-1
5HT2A_HUMAN
-
-
3'_UTR
rs149887481
0.00815
-
-
-
-
-
het
11
9
13
47407941
C
T
ENST00000543956
ENSG00000102468
47405685
47471169
ENSP00000441861
HTR2A
-1
-
-
-
3'_UTR
rs149887481
0.00815
-
-
-
-
-
het
11
10
13
47407942
G
A
ENST00000378688
ENSG00000102468
47405685
47471169
ENSP00000367959
HTR2A
-1
5HT2A_HUMAN
-
-
3'_UTR
rs143950250
0.014
-
-
-
-
-
het
1
11
13
47407942
G
A
ENST00000542664
ENSG00000102468
47405685
47471169
ENSP00000437737
HTR2A
-1
5HT2A_HUMAN
-
-
3'_UTR
rs143950250
0.014
-
-
-
-
-
het
1
12
13
47407942
G
A
ENST00000543956
ENSG00000102468
47405685
47471169
ENSP00000441861
HTR2A
-1
-
-
-
3'_UTR
rs143950250
0.014
-
-
-
-
-
het
1
13
13
47408177
A
G
ENST00000378688
ENSG00000102468
47405685
47471169
ENSP00000367959
HTR2A
-1
5HT2A_HUMAN
-
-
3'_UTR
rs75604221
0.0335
-
lod=15:259
-
-
-
het
2
14
13
47408177
A
G
ENST00000542664
ENSG00000102468
47405685
47471169
ENSP00000437737
HTR2A
-1
5HT2A_HUMAN
-
-
3'_UTR
rs75604221
0.0335
-
lod=15:259
-
-
-
het
2
15
13
47408177
A
G
ENST00000543956
ENSG00000102468
47405685
47471169
ENSP00000441861
HTR2A
-1
-
-
-
3'_UTR
rs75604221
0.0335
-
lod=15:259
-
-
-
het
2
16
13
47408226
G
A
ENST00000378688
ENSG00000102468
47405685
47471169
ENSP00000367959
HTR2A
-1
5HT2A_HUMAN
-
-
3'_UTR
rs77274377
0.0307
-
lod=20:289
-
-
-
het
2
17
13
47408226
G
A
ENST00000542664
ENSG00000102468
47405685
47471169
ENSP00000437737
HTR2A
-1
5HT2A_HUMAN
-
-
3'_UTR
rs77274377
0.0307
-
lod=20:289
-
-
-
het
2
18
13
47408226
G
A
ENST00000543956
ENSG00000102468
47405685
47471169
ENSP00000441861
HTR2A
-1
-
-
-
3'_UTR
rs77274377
0.0307
-
lod=20:289
-
-
-
het
2
19
13
47408350
T
C
ENST00000378688
ENSG00000102468
47405685
47471169
ENSP00000367959
HTR2A
-1
5HT2A_HUMAN
-
-
3'_UTR
rs17069218
0.0322
-
lod=13:243
-
-
-
het
3
20
13
47408350
T
C
ENST00000542664
ENSG00000102468
47405685
47471169
ENSP00000437737
HTR2A
-1
5HT2A_HUMAN
-
-
3'_UTR
rs17069218
0.0322
-
lod=13:243
-
-
-
het
3
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