| General information of RDP00363 | |
|---|---|
| Gene Symbol: | SLC12A2 |
| RefSeq ID: | NM_001046 |
| Repeat coordinate: | chr5:128084240-128084261 (+) |
| Repeat size: | 7 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.133; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | AAAAAA |
| 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 |
| Mammary Carcinoma, Animal | NM_001046 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
128084239
.
TGCGGCGGCGGCGGCGGCGGCGGCA
T
100
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
128084239
.
TGCGGCG
T
.
5
128084245
.
GGCGGCGGCGGCGGCGGCA
G
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
128084229
rs750854053
GGGCCGCTGCTGCGGCGGC
G
24456.92
5
128084239
rs747570026
TGCGGCGGCGGCGGCGGCGGCGGCAGCGGCG
TGCGGCGGCGGCGGCAGCGGCG,TGCGGCGGCGGCGGCGGCAGCGGCG,TGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGCG,TGCGGCGGCGGCGGCGGCGGCAGCGGCG,TGCGGCG,T
353237.73
5
128084242
rs769929100
GGCGGCGGCGGCGGCGGCGGCA
G,TGCGGCGGCGGCGGCGGCGGCA
342546.75
5
128084245
rs759381412
GGCGGCGGCGGCGGCGGCA
G,AGCGGCGGCGGCGGCGGCA,TGCGGCGGCGGCGGCGGCA
1025167.18
5
128084247
rs780314021
C
T
847913.32
5
128084248
.
GGCGGCGGCGGCGGCA
G
867702.96
5
128084251
rs769579851
GGCGGCGGCGGCA
G
949924.98
5
128084254
rs775523273
GGCGGCGGCA
G,GGCGGCGGCAGCGGCGGCA
945292.30
5
128084256
rs749472667
C
T
876218.71
5
128084257
rs181849063
G
A
886609.41
5
128084260
.
GGCA
AGCA,G
870011.73
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
128084239
rs747570026
TGCGGCGGCGGCGGCGGCGGCGGCA
TGCGGCGGCGGCGGCGGCGGCA,TGCGGCGGCGGCGGCGGCGGCGGCGGCA,TGCGGCGGCGGCGGCGGCA,TGCGGCGGCGGCGGCA,TGCGGCGGCGGCGGCGGCGGCGGCGGCGGCA,T
517970.58
5
128084242
rs769929100
GGCGGCGGCGGCGGCGGCGGCA
TGCGGCGGCGGCGGCGGCGGCA,G
451667.95
5
128084245
rs759381412
GGCGGCGGCGGCGGCGGCA
G
743931.08
5
128084248
.
GGCGGCGGCGGCGGCA
AGCGGCGGCGGCGGCA,GGCGGCGGCGGCGGCAGCGGCGGCGGCGGCA,G
329452.90
5
128084251
rs769579851
GGCGGCGGCGGCA
G,GGCGGCGGCGGCAGCGGCGGCGGCA
392623.88
5
128084254
rs775523273
G
GGCGGCGGCA
393813.45
5
128084256
rs749472667
C
T,CA
388388.05
5
128084257
rs181849063
G
A,GCGGCAGCGGCGGCGGCT,GGCA,GGCGGCA
812954.05
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
128084229
rs750854053
GGGCCGCTGCTGCGGCGGC
G
.
5
128084239
.
TGCG
T
.
5
128084239
rs777669960
TGCGGCG
T
.
5
128084239
rs746633185
TGCGGCGGCG
T
.
5
128084239
rs560532409
TGCGGCGGCGGCGGCGGCGGCGGCA
T
.
5
128084239
rs771590298
TGCGGCGGCGGCGGCGGCGGCGGCAGCG
T
.
5
128084239
rs770629297
TGCGGCGGCGGCGGCGGCGGCGGCAGCGGCG
T,TGCG,TGCGGCG,TGCGGCGGCGGCGGCAGCGGCG,TGCGGCGGCGGCGGCGGCAGCGGCG,TGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGCG
.
5
128084242
rs769929100
G
T
.
5
128084242
rs776231534
GGCGGCGGCGGCGGCGGCGGCA
G
.
5
128084245
.
G
T
.
5
128084245
.
GGCGGCGGCGGCGGCGGCA
G
.
5
128084245
rs759381412
GGCGGCGGCGGCGGCGGCA
G
.
5
128084247
rs780314021
C
T
.
5
128084251
rs769579851
GGCGGCGGCGGCA
G
.
5
128084253
.
C
T
.
5
128084254
rs775523273
G
GGCGGCGGCA
.
5
128084256
rs749472667
C
T
.
5
128084257
rs181849063
G
A
.
5
128084257
rs763035966
G
GGCGGCA
.