| General information of RDP00515 | |
|---|---|
| Gene Symbol: | SULF2 |
| RefSeq ID: | NM_001161841 |
| Repeat coordinate: | chr20:47785452-47785470 (-) |
| Repeat size: | 6 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.059; 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 |
| Endometrioma | NM_001161841 | 0.30 | 2 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
47785435
.
GCGCCGCCGCTGCCGCTGCCGCCGCCGC
GCGCCGC,GCGCCGCCGCCGCCGCTGCTGCCGCCGCCGCCGCCGCTGCCGCTGCCGCCGCCGC,GCGCCGCCGC,G,GCGCCGCCGCCGCCGCTGCCGCTGCCGCCGCCGC,GCGCCGCCGCCGCTGCCGCTGCCGCCGCCGC
146728.80
20
47785445
rs181363441
TGCCGCTGCCGCCGCC
CGCCGCTGCCGCCGCC,TGCCGCC,T,TGCCGCTGCCGCCGCCGCCGCCGCCGCTGCCGCCGCC
1183894.64
20
47785451
.
TGCCGCC
CGCCGCC,TGCCGCCGCC,TGCTGCCGCCGCC,T,TGCCGCCGCCGCC
309032.34
20
47785453
.
C
CTG
149697.04
20
47785454
rs184334635
C
T,CGCTGCT,CCGCCGCCGCCGCCGCTGCCGCTGCT,CT,CCGCCGCCGCTGCT
5495640.07
20
47785457
.
C
T
6454.34
20
47785460
.
C
T,CGCTGCT
4291.58
20
47785461
.
G
A
2459.66
20
47785463
.
C
T
318.07
20
47785466
.
CGCCGCT
CGCTGCCGCT,C
2543.86
20
47785469
.
C
T
2148.13
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
47785435
.
GCGCCGCCGCTGCCGCTGCCGC
G
.
20
47785435
.
GCGCCGCCGCTGCCGCTGCCGCCGCCGC
G
.
20
47785451
.
TGCCGCC
T
.
20
47785454
rs184334635
C
T
.
20
47785454
.
C
CGCTGCT
.
20
47785469
.
C
T
.