| General information of RDP00406 | |
|---|---|
| Gene Symbol: | LRMDA |
| RefSeq ID: | NM_001305581 |
| Repeat coordinate: | chr10:75616251-75616284 (+) |
| Repeat size: | 11 |
| Repeat region: | intron |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.006; 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 |
| Albinism, oculocutaneous, type VII, 615179 (3) | 614537 | 10q22.2-q22.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Prescription Drug Abuse | NM_001305581 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
75616240
rs546496602
TAGCAGCAGTAGCAGC
TAGCAGCAGCAGTAGCAGC,TAGCAGCAGCAGCAGCAGTAGCAGC,TAGCAGCAGCAGCAGCAGCAGTAGCAGC,TAGCAGCAGCAGCAGTAGCAGC,CAGCAGCAGTAGCAGC,T
757035.80
10
75616249
rs548073071
TAGC
TAGCAGC,CAGC,T,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGC
2305261.51
10
75616252
rs753888328
C
T
376089.05
10
75616275
.
G
GT
741.48
10
75616277
.
AGCAGCAGTAG
A
738.49
10
75616279
rs549242270
CAGCAGT
C
1067.47
10
75616282
rs778168399
CAGT
C,CAGTAGT,CAGCAGTAGT,CAGCAGCAGCAGTAGT,CAGCAGCAGTAGT
11734.57
10
75616283
.
A
T
1475.97
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
75616240
rs768019874
TAGCAGCAGTAGC
T
.
10
75616249
.
TAGC
T
.
10
75616249
.
TAGCAGC
T
.
10
75616252
rs753888328
C
T
.
10
75616254
.
GC
G,GT
.
10
75616258
rs538467843
C
T
.
10
75616259
.
A
AG
.
10
75616260
.
GCA
G
.
10
75616267
.
C
T
.
10
75616276
.
C
T
.
10
75616279
rs549242270
C
T
.
10
75616282
rs778168399
C
T
.