| General information of RDP00449 | |
|---|---|
| Gene Symbol: | KMT5A |
| RefSeq ID: | NM_001324504 |
| Repeat coordinate: | chr12:123389465-123389486 (+) |
| Repeat size: | 7 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.863; 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 ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
123389463
rs780061449
AGGC
A,AGGCGGC
70302.31
12
123389466
.
C
T
64751.71
12
123389469
.
C
T
1241.88
12
123389472
.
C
T
423.47
12
123389475
.
C
T
7310.21
12
123389478
.
C
T
591.43
12
123389479
.
G
T
225.96
12
123389481
.
C
T
3637.59
12
123389483
.
G
T
74.10
12
123389484
.
C
T
10262.94
12
123389485
.
G
T
1000.80
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
123389463
rs780061449
AGGCGGC
AGGC,A,AGGCGGCGGC
3894.36
12
123389481
.
C
CGGCGGT
501.36
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
123389463
.
AGGCGGCGGCGGCGGCGGCGGCGGTGGC
AGGCGGCGGCGGCGCCGGCGGCGGTGGC
.
12
123389463
rs780061449
AGGC
ACGGC,A
.
12
123389463
.
AGGCGGC
A
.
12
123389466
.
C
CG
.
12
123389469
.
C
A
.
12
123389469
.
C
CG
.
12
123389472
.
C
CG
.
12
123389474
.
G
GC
.
12
123389479
.
G
A
.
12
123389481
.
C
G
.
12
123389484
.
C
T
.