protein tyrosine phosphatase, non-receptor type 22 (lymphoid) [Source:HGNC Symbol;Acc:9652]
1
114356433
114414381
-1
p13.2
114356433
114414334
PTPN22
PTPN22-002
HGNC Symbol
HGNC transcript name
11
38.85
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
PUTATIVE
26191
9652
PTPN22
27511
MSeqDR Master Exome Data Set M1: 233 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
1
114356663
A
G
ENST00000359785
ENSG00000134242
114356433
114414381
ENSP00000352833
PTPN22
-1
PTN22_HUMAN
-
-
3'_UTR
rs3811021
0.17
-
-
-
-
Rheumatoid arthritis, association with ?
het
176
2
1
114356663
A
G
ENST00000359785
ENSG00000134242
114356433
114414381
ENSP00000352833
PTPN22
-1
PTN22_HUMAN
-
-
3'_UTR
rs3811021
0.17
-
-
-
-
Rheumatoid arthritis, association with ?
hom
30
3
1
114356663
A
G
ENST00000460620
ENSG00000134242
114356433
114414381
ENSP00000433141
PTPN22
-1
PTN22_HUMAN
-
-
3'_UTR
rs3811021
0.17
-
-
-
-
Rheumatoid arthritis, association with ?
het
176
4
1
114356663
A
G
ENST00000460620
ENSG00000134242
114356433
114414381
ENSP00000433141
PTPN22
-1
PTN22_HUMAN
-
-
3'_UTR
rs3811021
0.17
-
-
-
-
Rheumatoid arthritis, association with ?
hom
30
5
1
114356663
A
G
ENST00000528414
ENSG00000134242
114356433
114414381
ENSP00000435176
PTPN22
-1
-
-
-
3'_UTR
rs3811021
0.17
-
-
-
-
Rheumatoid arthritis, association with ?
het
176
6
1
114356663
A
G
ENST00000528414
ENSG00000134242
114356433
114414381
ENSP00000435176
PTPN22
-1
-
-
-
3'_UTR
rs3811021
0.17
-
-
-
-
Rheumatoid arthritis, association with ?
hom
30
7
1
114357211
G
A
ENST00000359785
ENSG00000134242
114356433
114414381
ENSP00000352833
PTPN22
-1
PTN22_HUMAN
-
-
3'_UTR
rs1217412
0.67191
-
-
-
-
-
het
224
8
1
114357211
G
A
ENST00000359785
ENSG00000134242
114356433
114414381
ENSP00000352833
PTPN22
-1
PTN22_HUMAN
-
-
3'_UTR
rs1217412
0.67191
-
-
-
-
-
hom
374
9
1
114357211
G
A
ENST00000460620
ENSG00000134242
114356433
114414381
ENSP00000433141
PTPN22
-1
PTN22_HUMAN
-
-
3'_UTR
rs1217412
0.67191
-
-
-
-
-
het
224
10
1
114357211
G
A
ENST00000460620
ENSG00000134242
114356433
114414381
ENSP00000433141
PTPN22
-1
PTN22_HUMAN
-
-
3'_UTR
rs1217412
0.67191
-
-
-
-
-
hom
374
11
1
114357211
G
A
ENST00000528414
ENSG00000134242
114356433
114414381
ENSP00000435176
PTPN22
-1
-
-
-
3'_UTR
rs1217412
0.67191
-
-
-
-
-
het
224
12
1
114357211
G
A
ENST00000528414
ENSG00000134242
114356433
114414381
ENSP00000435176
PTPN22
-1
-
-
-
3'_UTR
rs1217412
0.67191
-
-
-
-
-
hom
374
13
1
114361936
G
C
ENST00000420377
ENSG00000134242
114356433
114414381
ENSP00000388229
PTPN22
-1
-
-
-
3'_UTR
rs17031888
0.03119
-
-
-
-
-
het
31
14
1
114361936
G
C
ENST00000420377
ENSG00000134242
114356433
114414381
ENSP00000388229
PTPN22
-1
-
-
-
3'_UTR
rs17031888
0.03119
-
-
-
-
-
hom
1
15
1
114362038
G
A
ENST00000420377
ENSG00000134242
114356433
114414381
ENSP00000388229
PTPN22
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
5
16
1
114362118
A
T
ENST00000420377
ENSG00000134242
114356433
114414381
ENSP00000388229
PTPN22
-1
-
-
-
3'_UTR
rs34639107
0.0321
-
-
-
-
-
het
27
17
1
114362188
A
G
ENST00000359785
ENSG00000134242
114356433
114414381
ENSP00000352833
PTPN22
-1
PTN22_HUMAN
-
-
+11bp 5'_splice_site
rs201875159
-
G=24/A=8574;G=3/A=4401;G=27/A=12975
-
-
-
-
het
2
18
1
114362188
A
G
ENST00000420377
ENSG00000134242
114356433
114414381
ENSP00000388229
PTPN22
-1
-
c.2370T>C
p.V790V
syn
rs201875159
-
G=24/A=8574;G=3/A=4401;G=27/A=12975
-
-
-
-
het
2
19
1
114362188
A
G
ENST00000460620
ENSG00000134242
114356433
114414381
ENSP00000433141
PTPN22
-1
PTN22_HUMAN
-
-
+11bp 5'_splice_site
rs201875159
-
G=24/A=8574;G=3/A=4401;G=27/A=12975
-
-
-
-
het
2
20
1
114362188
A
G
ENST00000469077
ENSG00000134242
114356433
114414381
-
PTPN22
-1
-
-
-
+11bp 5'_splice_site
rs201875159
-
G=24/A=8574;G=3/A=4401;G=27/A=12975
-
-
-
-
het
2
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