| General information of RDP00012 | |
|---|---|
| Gene Symbol: | GLS |
| RefSeq ID: | NM_001256310 |
| Repeat coordinate: | chr2:190880873-190880918 (+) |
| Repeat size: | 15 |
| Repeat region: | 5' UTR |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.009; 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 |
| Miscarriage | NM_001256310 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
190880872
.
CGCAGCA
C
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
190880871
rs869225337
GCGCAGCAGCAGCAGCAGCAGCAGC
G
597.76
2
190880872
rs554999438
CGCAGCAGCAGCAGCAGCAGCAGCA
C,CGCAGCAGCAGCAGCAGCAGCA,CGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
14214485.01
2
190880876
.
GC
G
9766826.94
2
190880877
.
CA
C
9750258.43
2
190880878
.
A
AGCG
9750192.78
2
190880879
.
GCAGCAGCA
G
8301567.41
2
190880882
.
G
GCAGCAA
7932357.68
2
190880883
.
C
T
7933001.38
2
190880885
.
GCA
G
7808454.88
2
190880886
.
CA
C
7811427.48
2
190880887
.
A
AGCAGCAGCAGCAGCAGCAGCC
7811300.32
2
190880888
.
GCAGCAGCAGCAGCAGCAGCA
G
7646116.25
2
190880889
.
CA
C,TA
7642890.89
2
190880890
.
A
AGCG
7643288.52
2
190880891
.
GCA
G,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACCA
7118921.19
2
190880892
.
CAG
C,TAG
7120337.01
2
190880893
.
A
C
7111926.82
2
190880894
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAC
G
6947721.85
2
190880895
.
CAGCAGCA
C
6942820.66
2
190880896
.
AGC
AC,A,TGC
6948467.92
2
190880898
.
CAGCAGCAGCAGCAG
C
374869.77
2
190880899
.
AG
A,AGCAGCAGCAGCAGCAGCAGCAGCAGCACCCG
385347.36
2
190880900
.
GCAGCAGCAGCAGCAGCAGCAC
G
107052
2
190880902
.
AGC
A,AC
107489
2
190880904
.
CAGCAGCAGCAG
CGCAGCAGCAG,C,TAGCAGCAGCAG
27162.68
2
190880905
.
AGCAG
A
28432.66
2
190880906
.
GCAGCAGCAGCAGCAC
GGCAGCAGCAC,G
15427.45
2
190880911
.
AG
A
6338.30
2
190880912
.
GCAGCAGCAC
CCAGCAGCAC,GCACCAGCAGCAC,G,GCAGCACCAGCAGCAC,GCAGCAGCACCAGCAGCAC
35550.84
2
190880913
.
CAG
CG,C
6813.70
2
190880914
.
AG
CG,AGCAGCAGCAGCAGCACCCG,AGCAGCAGCAGCAGCAGCACCCG,A,AGCCG
16715.84
2
190880915
.
GCAGCAC
G,GCAGCAGCAGCACCAGCAC,GCAGCAGCACCAGCAC,GC,GCAGCAGCAGCAGCACCAGCAC
124226.60
2
190880916
.
CAG
C
69929.64
2
190880917
.
A
C
71256.69
2
190880918
.
GCAC
G,CCAC,GCAGCAGCACCAC
89107.35
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
190880871
.
GCGCAGCAGCAGCAGCAGCAGCAGCA
GC
.
2
190880872
rs757521027
CGCA
C,CGCAGCA,CGCAGCAGCA
.
2
190880872
rs57674096
CGCAGCA
C,CGCA,CGCAGCAGCA
.
2
190880872
.
CGCAGCAGCA
C,CGCA,CGCAGCA
.
2
190880872
.
CGCAGCAGCAGCA
C
.
2
190880872
.
CGCAGCAGCAGCAGCA
C,CGCAGCAGCA,CGCAGCAGCAGCA
.
2
190880872
.
CGCAGCAGCAGCAGCAGCA
C,CGCAGCAGCAGCA,CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCAGCA
.
2
190880872
.
CGCAGCAGCAGCAGCAGCAGCA
C,CGCA,CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA
.
2
190880872
rs753869801
CGCAGCAGCAGCAGCAGCAGCAGCA
C,CGCA,CGCAGCA,CGCAGCAGCA,CGCAGCAGCAGCA,CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCAGCAGCAGCA
.
2
190880872
.
CGCAGCAGCAGCAGCAGCAGCAGCAGCA
C
.
2
190880872
.
CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
C,CGCAGCA
.
2
190880873
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
GCAGCAGC
.
2
190880873
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
GCAGCAGCAG
.
2
190880873
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
GCAGCAGCAGC
.
2
190880873
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
GCAGCAGCAGCAGCAGCA
.
2
190880873
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
GCAGCAGCAGCAGCAGCAGC
.
2
190880873
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACCCG
GCAGCAGCAGCAGCAGCAGCAGCACCCG
.
2
190880882
.
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACCCGCA
GCAGCAGCAGCAGCACCCGCA
.
2
190880893
.
A
C
.
2
190880896
.
A
C
.
2
190880897
.
G
C
.
2
190880899
.
A
C
.
2
190880902
.
A
T
.
2
190880903
.
G
C
.
2
190880905
.
A
C
.
2
190880909
.
G
T
.
2
190880912
.
G
C
.
2
190880912
.
G
GCAC
.
2
190880915
.
G
C
.
2
190880915
.
GCAGCAC
G
.
2
190880917
.
A
T
.
2
190880918
.
G
C
.