| General information of RDP00279 | |
|---|---|
| Gene Symbol: | NKX2-3 |
| RefSeq ID: | NM_145285 |
| Repeat coordinate: | chr10:99535443-99535470 (+) |
| Repeat size: | 9 |
| Repeat region: | CDS |
| Repeat unit: | CCG |
| Repeat conservation: | PhastCons_score: 0.082; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | AAAAAAAA |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| IIeocolitis | NM_145285 | 0.30 | 3 | 0 | CTD_human |
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
99535434
.
TCGGCCGCGGCCGCCGCCGCCGCCGCCGCCGCCGCCGCAGCAGCGGCGGCCTACAGCAGCAGCTATGGCTGTGCGTACCCGGCGGGCGGCGGCGG
T,TCGG,TCGGCGG,CCGGCCGCGGCCGCCGCCGCCGCCGCCGCCGCCGCCGCAGCAGCGGCGGCCTACAGCAGCAGCTATGGCTGTGCGTACCCGGCGGGCGGCGGCGG
10652.97
10
99535436
.
GGCCGCGGCCGCCGCCGCCGCCGCCGCCGCCGCCGCAGCA
GGCCGCCGCCGCCGCCGCCGCCGCAGCA,G
10949.75
10
99535439
rs59754112
CGCGGCCGCCGCCGCCGCCGCCGCCGCCGCCGCAGCA
GGCGGCCGCCGCCGCCGCCGCCGCCGCCGCCGCAGCA,CGCGGCGGCCGCCGCCGCCGCCGCCGCCGCCGCCGCAGCA,C
21100.36
10
99535442
rs753948982
GGCCGCCGCCGCC
GGCCGCCGCC,GGCCGCC,GGCC,G,GGCCGCCGCCGCCGCC
280067.09
10
99535445
rs60505509
C
G
273126.98
10
99535446
.
G
GGA,A
145937.35
10
99535448
rs59941155
C
G
130165.40
10
99535449
.
G
T,GGA
131893.01
10
99535452
.
GCCGCCGCCGCCGCCGCCGCAGCAGCGGCGGCCTACAGCAGCAGCTATGGCTGTGCGTACCCGGCGGGCGGCGGCGGCGGCGGCGGCGGGACCT
G,TCCGCCGCCGCCGCCGCCGCAGCAGCGGCGGCCTACAGCAGCAGCTATGGCTGTGCGTACCCGGCGGGCGGCGGCGGCGGCGGCGGCGGGACCT
57169.05
10
99535454
.
C
A
49907.78
10
99535455
.
GCCGCCGCCGCCGCCGCAGCAGCGGCGGCCTACAGCAGCAGCTATGGCTGTGCGTACCCGGCGGGCGGCGGCGGCGGCGGCGGCGGGACCT
G
23578
10
99535457
rs751674367
C
G
20426.65
10
99535458
.
G
A
16619.59
10
99535460
.
C
G
16942
10
99535461
.
G
A
15201.26
10
99535464
.
G
A
12153.17
10
99535466
.
C
A
14822.66
10
99535467
.
G
A
11893.98
10
99535469
rs752566628
C
A,T
141816.68
10
99535470
.
G
A
11956.64
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
99535439
rs59754112
CGCGGCCGCCGCCGCCGCCGCCGCCGCCGCCGCAGCA
C
721.69
10
99535442
rs753948982
GGCCGCCGCCGCCGCC
GGCCGCC,GGCCGCCGCCGCCGCCGCC,G,GGCCGCCGCCGCC,GGCC,GGCCGCCGCCGCCGCCGCCGCC
122871.39
10
99535457
rs751674367
C
G
13577.78
10
99535466
.
C
G,T
1709.81
10
99535469
rs752566628
C
A,CGCA
145239.10
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
99535442
rs773640776
GGCC
G
.
10
99535442
rs765475928
GGCCGCC
G
.
10
99535442
rs760820712
GGCCGCCGCC
G
.
10
99535442
rs766429423
GGCCGCCGCCGCCGCC
G
.
10
99535442
rs759718869
GGCCGCCGCCGCCGCCGCCGCCGCC
G
.
10
99535445
rs60505509
C
G
.
10
99535448
rs59941155
C
G
.
10
99535457
rs751674367
C
G
.
10
99535459
.
C
A
.
10
99535469
rs10082511
C
A
.
10
99535469
rs752566628
C
CGCAGCA,CGCA
.