| General information of RDP00394 | |
|---|---|
| Gene Symbol: | NANOS1 |
| RefSeq ID: | NM_199461 |
| Repeat coordinate: | chr10:119030122-119030137 (+) |
| Repeat size: | 5 |
| Repeat region: | CDS |
| Repeat unit: | GAC |
| Repeat conservation: | PhastCons_score: 0.490; 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 |
| Spermatogenic failure 12, 615413 (3) | 608226 | 10q26.11 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Male infertility with teratozoospermia due to single gene mutation | NM_199461 | 0.30 | 1 | 0 | ORPHANET |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
119030122
.
GGAC
G
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
119030122
rs751098582
GGACGAC
GGAC,G,GGACGACGAC
50012.10
10
119030137
.
C
T
130.62
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
119030122
rs751098582
GGACGAC
CGACGAC,GGACGACGAC,G,GGACGACGACGAC
2696.37
10
119030128
.
C
T
2122.29
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
119030122
rs751098582
GGAC
G
.
10
119030122
rs761283110
GGACGAC
G,GGAC
.