| General information of RDP00062 | |
|---|---|
| Gene Symbol: | CAMSAP2 |
| RefSeq ID: | NM_001297707 |
| Repeat coordinate: | chr1:200739621-200739642 (+) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.552; 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 |
| Colorectal Carcinoma | NM_001297707 | 0.30 | 0 | 0 | UNIPROT |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
200739620
.
AGCGGCGGCG
AGCGGCGGCGGCG,A
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
200739619
.
GAGCGGCGGCGGC
G,GAGCAGCGGCGGCGGC
3207.58
1
200739620
rs751400733
AGCGGCGGCGGCGGCGGCGGCGGCTCCCGCGGGAG
AGCGGCGGCGGCGGCGGCGGCGGCGGCTCCCGCGGGAG,AGCGGCGGCGGCGGCTCCCGCGGGAG,AGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCTCCCGCGGGAG,AGCGGCGGCGGCGGCGGCTCCCGCGGGAG,A,AGCGGCGGCGGCGGCGGCGGCGGCGGCGGCTCCCGCGGGAG
2624178.60
1
200739631
.
C
T
5305.59
1
200739640
rs559720349
C
T
29503.15
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
200739620
.
AGCG
A
.
1
200739620
.
AGCG
A,AGCGG,AGCGGCG
.
1
200739620
rs573925632
AGCGGCGGCG
A,AGCGGCGGCGGCG
.
1
200739622
.
C
CG,G
.
1
200739622
.
C
CG
.
1
200739624
.
G
GC
.
1
200739625
.
C
G
.
1
200739628
.
C
G
.
1
200739629
.
GGC
G
.
1
200739638
.
GGC
G
.
1
200739640
rs559720349
C
T
.