| General information of RDP00421 | |
|---|---|
| Gene Symbol: | ABCG1 |
| RefSeq ID: | NM_207627 |
| Repeat coordinate: | chr21:42219222-42219252 (+) |
| Repeat size: | 10 |
| Repeat region: | intron |
| Repeat unit: | CCG |
| Repeat conservation: | PhastCons_score: 0.146; 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 DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Weight Gain | NM_207627 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
21
42219222
.
CCCGCCGCCGCCG
CCCG,CCCGCCG,CCCGCCGCCGCCGCCGCCG,C,CCCGCCGCCG,CCCGCCGCCGCCGCCG
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
21
42219217
.
TCGTCCCCGCCGCCGC
T
363.42
21
42219222
rs765329833
CCCGCCGCCGCCG
CCCGCCG,CCCGCCGCCG,CCCGCCGCCGCCGCCGCCG,C,CCCG,CCCGCCGCCGCCGCCG
18731212.59
21
42219225
.
G
C
16470314.73
21
42219236
.
C
T
16008.19
21
42219237
.
G
C
16218.11
21
42219240
.
G
A,T
4689.20
21
42219246
.
G
A,C
2189.12
21
42219248
.
C
A
577.02
21
42219249
.
G
A,C
429.48
21
42219251
rs561009948
C
T
4833.19
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
21
42219222
rs765329833
CCCGCCG
C,CCCG,CCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCGCCG,CCCGCCGCCG,CCCGCCGCCGCCGCCGCCGCCGCCG
3854194.66
21
42219240
.
G
A
4788.05
21
42219251
rs561009948
C
T
3023.92
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
21
42219222
rs765506549
CCCG
C
.
21
42219222
rs368753152
CCCGCCG
CCCG,CCCGCCGCCGCCG,C
.
21
42219222
rs781174541
CCCGCCGCCG
CCCG,C
.
21
42219222
rs757175129
CCCGCCGCCGCCG
CCCG,CCCGCCG,CCCGCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCG,C
.
21
42219233
.
C
CG
.
21
42219240
.
G
C
.
21
42219242
.
CG
C
.
21
42219245
.
CG
C
.
21
42219251
rs561009948
C
T
.
21
42219252
rs200985535
G
C
.