| General information of RDP00398 | |
|---|---|
| Gene Symbol: | COMP |
| RefSeq ID: | NM_000095 |
| Repeat coordinate: | chr19:18786034-18786049 (-) |
| Repeat size: | 5 |
| Repeat region: | CDS |
| Repeat unit: | GAC |
| Repeat conservation: | PhastCons_score: 0.724; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | DDDDD |
| 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 |
| Pseudoachondroplasia, 177170 (3) | 600310 | 19p13.11 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Multiple epiphyseal dysplasia type 1 | NM_000095 | 0.30 | 0 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
18786034
40988
TGTC
T
.
19
18786036
9191
T
C
.
19
18786040
9183
C
A
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
18786034
rs312262898
TGTC
T
631.56
19
18786044
rs751147399
G
A
857.38
19
18786047
rs761508334
G
A
6015.19
19
18786048
rs766950514
T
A
576.36
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
18786038
.
G
A
552.47
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
18786034
rs312262897
TGTC
T
.
19
18786036
rs28936669
T
C
.
19
18786040
rs137852650
C
A
.
19
18786043
rs28933699
C
A
.
19
18786044
rs751147399
G
A
.
19
18786047
rs761508334
G
A
.
19
18786048
rs766950514
T
A
.