| General information of RDP00533 | |
|---|---|
| Gene Symbol: | NIPBL |
| RefSeq ID: | NM_015384 |
| Repeat coordinate: | chr5:36877199-36877217 (+) |
| Repeat size: | 6 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 1.000; 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 |
| Cornelia de Lange syndrome 1, 122470 (3) | 608667 | 5p13.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Cornelia de Lange Syndrome 1 | NM_015384 | 0.70 | 16 | 263 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
36877199
.
TCGGCGG
TCGGCGGCGGCGG,TCGGCGGCGG,T,GCGGCGG,TCGGCGGCGGCGGCGG
18260.39
5
36877202
rs13166703
GCGGCGGCGGCGGCGGCGC
G
6242.58
5
36877203
.
C
T
9061.56
5
36877210
.
G
T
867.41
5
36877214
.
G
GCGGCGC
12392.19
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
36877202
rs13166703
G
C
.
5
36877205
rs13166704
G
C
.
5
36877206
.
CGGC
CGGGC
.