| General information of RDP00649 | |
|---|---|
| Gene Symbol: | PTCH1 |
| RefSeq ID: | NR_149061 |
| Repeat coordinate: | chr9:95508365-95508386 (-) |
| Repeat size: | 7 |
| Repeat region: | exon |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.579; 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 OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Holoprosencephaly 7, 610828 (3) | 601309 | 9q22.32 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Carcinoma, Basal Cell | NR_149061 | 0.50 | 3 | 0 | CTD_human |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
95508364
.
TGCCGCCGCCGCC
TGCCGCCGCCGCCGCC,TGCCGCC,T
100
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
95508364
215455
TGCC
T
.
9
95508364
193070
TGCCGCC
T
.
9
95508364
215454
TGCCGCCGCC
T
.
9
95508364
219940
TGCCGCCGCCGCC
T
.
9
95508375
390472
C
A
.
9
95508379
386559
C
T
.
9
95508381
387235
C
T
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
95508364
rs587780530
TGCCGCCGCCGCC
TGCCGCCGCCGCCGCC,TGCCGCCGCC,TGCC,TGCCGCC,TGCCGCCGCCGCCGCCGCC,T
480106.88
9
95508380
.
G
GCCA
225.23
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
95508364
rs587780530
TGCCGCCGCCGCC
TGCCGCCGCCGCCGCC,TGCCGCCGCC,TGCCGCCGCCGCCGCCGCC,TGCCGCC,TGCC,T
3628937.47
9
95508370
.
C
CGTT
138268.85
9
95508373
.
C
CGCT
12592.69
9
95508379
.
CGCCGCCGCG
CGCCGCTGCCGCCGCG,C
1631.92
9
95508381
.
C
T
1591.52
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
95508364
.
TGCCGCC
T
.
9
95508364
.
TGCC
T
.
9
95508364
rs543924941
TGCCGCC
T,TGCCGCCGCC
.
9
95508364
rs555069082
TGCCGCCGCCGCC
T,TGCCGCC,TGCCGCCGCCGCCGCC
.
9
95508370
.
C
CT
.
9
95508371
.
GCCGCCG
G
.
9
95508377
.
G
C
.
9
95508379
.
C
CG
.
9
95508383
.
G
T
.
9
95508386
.
G
GC
.