| General information of RDP00144 | |
|---|---|
| Gene Symbol: | RTN2 |
| RefSeq ID: | NM_005619 |
| Repeat coordinate: | chr19:45496963-45496993 (-) |
| Repeat size: | 10 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.154; 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 |
| Spastic paraplegia 12, autosomal dominant, 604805 (3) | 603183 | 19q13.32 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder) | NM_005619 | 0.70 | 2 | 0 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
45496962
rs3833261
AGCCGCCGCC
A,AGCCGCC,AGCCGCCGCCGCCGCC,AGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCCGCCGCC
7897324.93
19
45496963
.
GCC
G
5179668.19
19
45496965
.
C
A
5156884.96
19
45496967
.
C
A
1950099.03
19
45496968
.
C
T
1950100.06
19
45496971
.
C
T
1910779.49
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
45496962
.
AGCCGCCGCC
GGCCGCCGCC
.
19
45496962
rs3038807
AGCC
A,AGCCGCC,AGCCGCCGCC
.
19
45496962
.
AGCCGCCGCC
A,AGCCGCC,AGCCGCCGCCGCC,AGCCGCCGCCGCCGCC
.
19
45496962
.
AGCCGCCGCCGCC
A
.
19
45496963
.
GCCGCCGCCGCCGCCGCCGCCG
GCCGCCGCCGCCG
.
19
45496977
.
C
CG
.
19
45496978
.
G
A
.
19
45496983
.
C
CG
.
19
45496983
.
C
CG
.
19
45496986
.
CGCCGCCGCCCT
CGCCGGCCGCCCT
.
19
45496989
.
C
CG
.
19
45496993
.
G
T
.