| General information of RDP00556 | |
|---|---|
| Gene Symbol: | TCF4 |
| RefSeq ID: | NM_001083962 |
| Repeat coordinate: | chr18:55586155-55586227 (-) |
| Repeat size: | 24 |
| Repeat region: | intron |
| Repeat unit: | CTG |
| Repeat conservation: | PhastCons_score: 0.264; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| {Diabetes mellitus, type 2, susceptibility to}, 125853 (3) | 602228 | 10q25.2-q25.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| PROSTATE CANCER, HEREDITARY, 1 | NM_001083962 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
18
55586150
rs376518941
GAGGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
GAGCAGC,GAGCAGCAGCAGC,CAGGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,GAGCAGCAGCAGCAGCAGCAGCAGCAGC,G,GAGGAGCAGCAGCAGGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
3433.87
18
55586154
.
AGCAGCAGCAGCAGCAGCAGC
AAGCAGCAGC,A
9606614.45
18
55586155
.
GCA
G,GA
9635890.84
18
55586156
rs9957380
C
G
9617091.47
18
55586157
.
AGCAGCAGCAGC
AAGCAGC,A,AAGCAGCAGC
9588049.53
18
55586158
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,GAGCAGCAGCAGCAGCAGCAGC,GAGCAGCAGC,GAGCAGCAGCAGC,G
9558502.76
18
55586159
rs373584993
C
G
9575488.59
18
55586161
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
G,GAGCAGCAGCAGC,GAGC,GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,GGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
9517290.73
18
55586164
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGC
GGCAGCAGCAGCAGCAGCAGCAGCAGC,G
9433682.39
18
55586165
rs372659948
C
G
9435216.41
18
55586167
.
GCAGCAGCAGCAGCAGCAGCAGCAGC
GAGCAGCAGC,G
9383420.59
18
55586168
.
C
G
9362301.01
18
55586169
.
A
C
9293235.38
18
55586170
.
G
GCAGCAGCAC
9291837.22
18
55586171
.
C
G
9312525.71
18
55586173
.
G
GCAGCAC
9203635.88
18
55586174
rs763961841
C
T
9225862.87
18
55586176
.
G
GCAC
9067371.98
18
55586177
rs751513208
C
G
9082202.12
18
55586178
.
AG
A
10470737.01
18
55586179
rs12954356
G
C
10462193.57
18
55586180
rs767295553
CAGCAGCAGCAGCAGCAGCAGCAG
C,CCAG,GAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAG
10444846.56
18
55586181
.
A
G
9736635.31
18
55586183
rs140040330
C
G
9742042.03
18
55586184
.
AG
A
8321901.74
18
55586186
rs143877298
CAGCAGCAGCAGCAG
C,GAGCAGCAGCAGCAG
8303073.61
18
55586187
.
AG
A
8157050.76
18
55586189
rs145850351
CAGCAGCAGCAG
C,GAGCAGCAGCAG
8159151.36
18
55586190
.
A
AT
8072690.69
18
55586192
rs149011565
C
G
8075917.64
18
55586194
.
G
C
2992855.39
18
55586200
rs143743309
G
C,GCAC
2837494.69
18
55586207
.
C
CAGCA
16318.42
18
55586213
.
CA
C
4486.13
18
55586215
.
GCAGCAGCAGCAGCA
G
1993.75
18
55586226
rs549126405
A
G,T
1314.12
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
18
55586153
rs55725917
GAGCAGCAGCAGCAGCAGCAGCAGCAGC
G
.
18
55586153
.
GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
G
.
18
55586153
rs746872826
GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
G
.
18
55586156
rs9957380
C
G
.
18
55586159
rs373584993
C
G
.
18
55586162
.
C
G
.
18
55586165
rs372659948
C
G
.
18
55586168
.
C
G
.
18
55586171
.
C
G
.
18
55586174
rs763961841
C
G
.
18
55586177
rs751513208
C
G
.
18
55586179
rs12954356
G
C
.
18
55586180
rs767295553
C
G
.
18
55586183
rs140040330
C
G
.
18
55586186
rs143877298
C
G
.
18
55586189
rs145850351
C
G
.
18
55586191
.
G
T
.
18
55586192
rs149011565
C
G
.
18
55586195
rs755391514
C
G
.
18
55586198
.
C
G
.
18
55586200
rs143743309
G
C
.
18
55586201
.
C
G
.
18
55586203
rs529440244
G
C
.
18
55586207
.
C
G
.
18
55586209
rs771864980
G
C
.
18
55586212
.
G
C
.
18
55586214
rs557906510
A
G
.
18
55586226
rs549126405
A
T
.