| General information of RDP00254 | |
|---|---|
| Gene Symbol: | KCNN3 |
| RefSeq ID: | NM_001204087 |
| Repeat coordinate: | chr1:154869724-154869766 (-) |
| Repeat size: | 14 |
| Repeat region: | CDS |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.836; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | QQQQQQQQQQQQQQ |
| 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 |
| familial atrial fibrillation | NM_001204087 | 0.30 | 2 | 0 | CTD_human |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
154869723
403004
GGCT
G
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
154869726
rs746397332
T
G,TGCTGCTGCTGCTGCC
32714332.41
1
154869731
rs539996528
C
G,CTGCTGCTGCTGCTGA
10375742.14
1
154869734
rs748222393
C
CTGCTGCTGCTGCTGG,CTGCTGCTGCTGA
5491347.13
1
154869737
.
C
CTGCTGCTGT
3964762.44
1
154869739
.
G
GCTGCTGCTGCTGCTA
2853080.88
1
154869740
.
C
CTGCTGCTGCTGCTGCTGA
2855091.53
1
154869742
rs769934739
G
GCTGCTGCTC
1908216.80
1
154869747
rs773426876
T
TGCTGCTGCTGCTGAA,TGCTGCTGCTGCTGCA
1393919.28
1
154869748
.
G
GCTGCTGCTGCTGCTGCTGCTT
810753.56
1
154869749
.
C
A
810380.66
1
154869750
rs763512217
T
A
809400.72
1
154869752
.
C
A
409990.65
1
154869753
.
T
TGCTGCTGCTGCTGCC,TGCTGCTGAA
417334.55
1
154869755
.
C
CTGCTGCTGCTGCTGT
281493.36
1
154869759
rs766931119
T
TGCTGCTGCTGCTGCTGCG
271054.26
1
154869761
.
C
T
265447
1
154869762
.
TGCTGAA
T,TGCTGCTGCTGCTGCGGAGGCTGAA
270744.39
1
154869763
.
G
GCTGCTGCTGCTGCTA
268591.17
1
154869765
rs773041948
TGAA
T
456073.17
1
154869766
.
GAA
G
461816.62
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
154869733
.
G
GCTGCTGCTGCTGCTA
49250
1
154869734
rs748222393
C
CTGCTGCTGCTGA
50069.50
1
154869735
.
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTG
T
49244.98
1
154869742
rs769934739
G
GCTGCTGCTT
14063.76
1
154869747
rs773426876
T
TGCTGCTGCTGCTGCA
12313.61
1
154869748
.
G
GCTGCTGCTA
6439.85
1
154869759
rs766931119
T
TGCTGCTGCTGCTGCTGCTGCTGAA
761.55
1
154869765
rs773041948
TGAA
T
1209.24
1
154869766
.
GAA
G
1436.18
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
154869723
rs58327065
GGCT
G,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT
.
1
154869723
.
GGCTGCT
G
.
1
154869723
.
GGCTGCTGCTGCTGCT
G
.
1
154869723
.
GGCTGCTGCTGCTGCTGCT
G
.
1
154869723
.
GGCTGCTGCTGCTGCTGCTGCTGCTGCT
G
.
1
154869724
.
GCTGC
GC
.
1
154869726
rs572995536
T
G
.
1
154869726
rs746397332
T
TGCTGCTGCTGCTGCC,TGCTGCTGCTGCTGCT
.
1
154869730
.
GCT
GAA,G
.
1
154869731
rs539996528
C
G
.
1
154869734
rs748222393
C
CTGCTGCTGCTGA
.
1
154869742
rs769934739
G
GCTGCTGCTC
.
1
154869747
rs773426876
T
TGCTGCTGCTGCTGCA
.
1
154869750
rs763512217
T
TGCTGCTGCC
.
1
154869757
.
G
A
.
1
154869759
rs766931119
T
TGCTGCTGCTGCTGCTGCG
.
1
154869764
.
CTGA
CTGG
.
1
154869764
.
CTGAAGC
CTGGAGC
.
1
154869765
rs773041948
T
TGCTGCTGCA,TGCTGCTGCTGCG
.
1
154869766
.
GAAGC
GGAG
.