| General information of RDP00664 | |
|---|---|
| Gene Symbol: | HIVEP3 |
| RefSeq ID: | NR_038260 |
| Repeat coordinate: | chr1:41918107-41918131 (-) |
| Repeat size: | 8 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.015; 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 |
| Neurodevelopmental Disorders | NR_038260 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
41918107
.
CCCGCCGCCG
CCCGCCGCCGCCG,C
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
41918107
rs546342301
CCCGCCGCCGCCG
CCCG,CCCGCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG
718986.18
1
41918116
.
G
A
299741.36
1
41918120
rs529605372
C
T
30015.83
1
41918125
rs550104558
GC
G
1410.21
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
41918107
.
CCCG
C
.
1
41918107
.
CCCGCCGCCG
C
.
1
41918107
.
CCCG
C
.
1
41918107
rs546342301
CCCGCCGCCG
CCCGCCGCCGCCG,C
.
1
41918107
rs796188176
CCCGCCGCCGCCG
C
.
1
41918108
.
C
T
.
1
41918109
rs61775761
C
G
.
1
41918111
rs566925575
C
T
.
1
41918116
.
G
C
.
1
41918119
.
G
C
.
1
41918120
rs529605372
C
T
.
1
41918125
rs550104558
G
C
.