| General information of RDP00351 | |
|---|---|
| Gene Symbol: | GPX1 |
| RefSeq ID: | NM_000581 |
| Repeat coordinate: | chr3:49358241-49358259 (-) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.006; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | AAAAA |
| 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 |
| Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1) | 138320 | 3p21.31 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Mammary Carcinoma, Human | NM_000581 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
49358240
rs17838762
GGCCGCC
G,GGCC
.
3
49358241
~rs17838762
GCCGCC
G,GGCC
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
49358240
rs774884827
GGCCGCCGCC
GGCCGCC,GGCC,G,GGCCGCCGCCGCC,AGCCGCCGCC,GGCCGCCGCCGCCGCC
65279818.77
3
49358244
.
G
A
28479974.43
3
49358249
rs764740713
C
A
838611.33
3
49358250
.
G
A
2221.63
3
49358255
rs754217927
C
T
1846.61
3
49358258
.
CGCT
TGCT,GGCT,C
2962.76
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
49358238
.
TGGGC
T
339.62
3
49358240
rs774884827
GGCCGCC
GGCC,G,GGCCGCCGCCGCC,GGCCGCCGCC
18410726.77
3
49358244
.
GCC
G
11576842.31
3
49358250
.
G
A
2343.17
3
49358255
rs754217927
C
T
2904.23
3
49358258
.
CGCT
C
459.74
3
49358259
.
G
A
686.08
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
49358235
.
GACTGGGCCGCCGCCGCCGCCGCCGCT
GACTGGGCCGCCGCCGCCGCT
.
3
49358237
.
CTGGGCCGCC
CTGG
.
3
49358237
.
CTGGGCCGCCGCCGCCGCCGCCGCTAGCCGAGCAGCACACATGG
CTGGGCCGCCGCCGCCGCTAGCGGAGCAGCACACATGG
.
3
49358239
.
GGGCCGCC
GG
.
3
49358240
.
GGCC
G
.
3
49358240
.
GGCCGCC
G,GGCC
.
3
49358240
.
GGCCGCCGCCGCCG
GGCCGCCGCCG
.
3
49358240
rs71077799
GGCC
G
.
3
49358240
rs56041243
GGCCGCC
G,GGCC,GGCCGCCGCC,GGCCGCCGCCGCC
.
3
49358241
.
GCCGC
GC
.
3
49358241
.
GCCGCCG
G
.
3
49358241
.
GCCGCCGC
GC
.
3
49358241
.
GCCGCCGCC
GCC
.
3
49358241
.
GCCGCCGCCG
GCCG,GCCGCCG
.
3
49358241
.
GCCGCCGCCGC
GCCGC
.
3
49358241
.
GCCGCCGCCGCC
GCCGCC,GCCGCCGCC
.
3
49358241
.
GCCGCCGCCGCCG
GCCGCCG,GCCGCCGCCG
.
3
49358241
.
GCCGCCGCCGCCGCCGCCG
GCCGCCGCCGCCGCCG
.
3
49358249
rs764740713
C
A
.
3
49358255
rs754217927
C
T
.
3
49358255
.
CGCCGCTAGC
CGCTAGC,TAGC
.