interleukin 17 receptor A [Source:HGNC Symbol;Acc:5985]
22
17565844
17596583
1
q11.1
17565844
17581359
IL17RA
IL17RA-004
HGNC Symbol
HGNC transcript name
3
50.68
protein_coding
processed_transcript
ensembl_hava
havana
KNOWN
PUTATIVE
23765
5985
IL17RA
27510
MSeqDR Master Exome Data Set M1: 221 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
22
17565888
C
A
ENST00000319363
ENSG00000177663
17565844
17596583
ENSP00000320936
IL17RA
1
I17RA_HUMAN
-
-
5'_UTR
rs13053694
0.5071
-
-
-
-
-
het
326
2
22
17565888
C
A
ENST00000319363
ENSG00000177663
17565844
17596583
ENSP00000320936
IL17RA
1
I17RA_HUMAN
-
-
5'_UTR
rs13053694
0.5071
-
-
-
-
-
hom
187
3
22
17565888
C
A
ENST00000477874
ENSG00000177663
17565844
17596583
-
IL17RA
1
-
c.45C>A
p.S15R
non-syn
rs13053694
0.5071
-
-
-
-
-
het
326
4
22
17565888
C
A
ENST00000477874
ENSG00000177663
17565844
17596583
-
IL17RA
1
-
c.45C>A
p.S15R
non-syn
rs13053694
0.5071
-
-
-
-
-
hom
187
5
22
17565895
G
C
ENST00000319363
ENSG00000177663
17565844
17596583
ENSP00000320936
IL17RA
1
I17RA_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
6
22
17565895
G
C
ENST00000477874
ENSG00000177663
17565844
17596583
-
IL17RA
1
-
c.52G>C
p.E18Q
non-syn
NA
-
-
-
-
-
-
het
1
7
22
17565932
T
C
ENST00000319363
ENSG00000177663
17565844
17596583
ENSP00000320936
IL17RA
1
I17RA_HUMAN
-
-
5'_UTR
rs917864
0.7243
-
-
-
-
-
het
203
8
22
17565932
T
C
ENST00000319363
ENSG00000177663
17565844
17596583
ENSP00000320936
IL17RA
1
I17RA_HUMAN
-
-
5'_UTR
rs917864
0.7243
-
-
-
-
-
hom
459
9
22
17565932
T
C
ENST00000477874
ENSG00000177663
17565844
17596583
-
IL17RA
1
-
c.89T>C
p.V30A
non-syn
rs917864
0.7243
-
-
-
-
-
het
203
10
22
17565932
T
C
ENST00000477874
ENSG00000177663
17565844
17596583
-
IL17RA
1
-
c.89T>C
p.V30A
non-syn
rs917864
0.7243
-
-
-
-
-
hom
459
11
22
17565943
C
T
ENST00000319363
ENSG00000177663
17565844
17596583
ENSP00000320936
IL17RA
1
I17RA_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
12
22
17565943
C
T
ENST00000477874
ENSG00000177663
17565844
17596583
-
IL17RA
1
-
c.100C>T
p.P34S
non-syn
NA
-
-
-
-
-
-
het
2
13
22
17565974
G
C
ENST00000319363
ENSG00000177663
17565844
17596583
ENSP00000320936
IL17RA
1
I17RA_HUMAN
-
-
5'_UTR
rs917865
0.7083
-
-
-
-
-
hom
458
14
22
17565974
G
C
ENST00000319363
ENSG00000177663
17565844
17596583
ENSP00000320936
IL17RA
1
I17RA_HUMAN
-
-
5'_UTR
rs917865
0.7083
-
-
-
-
-
het
199
15
22
17565974
G
C
ENST00000459971
ENSG00000177663
17565844
17596583
-
IL17RA
1
-
c.28G>C
p.A10P
non-syn
rs917865
0.7083
-
-
-
-
-
hom
458
16
22
17565974
G
C
ENST00000459971
ENSG00000177663
17565844
17596583
-
IL17RA
1
-
c.28G>C
p.A10P
non-syn
rs917865
0.7083
-
-
-
-
-
het
199
17
22
17565974
G
C
ENST00000477874
ENSG00000177663
17565844
17596583
-
IL17RA
1
-
c.131G>C
p.S44T
non-syn
rs917865
0.7083
-
-
-
-
-
hom
458
18
22
17565974
G
C
ENST00000477874
ENSG00000177663
17565844
17596583
-
IL17RA
1
-
c.131G>C
p.S44T
non-syn
rs917865
0.7083
-
-
-
-
-
het
199
19
22
17566001
C
T
ENST00000319363
ENSG00000177663
17565844
17596583
ENSP00000320936
IL17RA
1
I17RA_HUMAN
c.20C>T
p.P7L
non-syn
rs143652002
0.0023
-
-
TOLERATED
NA
-
het
11
20
22
17566001
C
T
ENST00000459971
ENSG00000177663
17565844
17596583
-
IL17RA
1
-
c.55C>T
p.R19C
non-syn
rs143652002
0.0023
-
-
TOLERATED
NA
-
het
11
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