| General information of RDP00085 | |
|---|---|
| Gene Symbol: | DIP2B |
| RefSeq ID: | NM_173602 |
| Repeat coordinate: | chr12:50505003-50505024 (+) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.632; 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 |
| Mental retardation, FRA12A type, 136630 (3) | 611379 | 12q13.12 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Mental Retardation, Fra12a Type | NM_173602 | 0.50 | 1 | 0 | CTD_human;GENOMICS_ENGLAND |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
50505004
.
C
T
12539.12
12
50505006
.
G
T
5191.96
12
50505008
rs545938121
G
A
2802.96
12
50505013
.
C
CGGCGGCGGCGGT
417.66
12
50505015
.
G
GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGTGCTGGTGGTGCT
206.57
12
50505016
.
C
G
245.57
12
50505019
rs868685909
C
CGGCGGT,CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGTGCTGGT,CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGTGCTGGT,CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGTGCTGGT
31544.76
12
50505022
.
C
CGGT,CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGT,CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGT,CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGT,CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGT
14110.95
12
50505023
.
GGT
G
1635.92
12
50505024
.
GTGCTGGTGGTGCT
G,GCGGCTGCTGGTGGTGCT,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGCTGCTGGTGGTGCT,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGCTGCTGGTGGTGCT,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCTGCTGGTGGTGCT
15236.64
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
50505001
.
TGGC
TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC
.
12
50505001
.
TGGC
T,TGGCGGC
.
12
50505007
.
C
A
.
12
50505008
rs545938121
G
A
.
12
50505019
.
C
CGGCGGT
.
12
50505020
rs562423094
G
A
.
12
50505022
.
C
T
.