| General information of RDP00586 | |
|---|---|
| Gene Symbol: | MMD2 |
| RefSeq ID: | NM_001100600 |
| Repeat coordinate: | chr7:4945185-4945239 (-) |
| Repeat size: | 18 |
| Repeat region: | intron |
| Repeat unit: | GAA |
| Repeat conservation: | PhastCons_score: 0.008; 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 |
| Miyoshi muscular dystrophy 2 (2) | 613318 | 8q22.3 |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
4945184
rs771560765
CTTTCTT
CCTT,CTTTCTTCTTCTTCTTCTTCTTCTTTTTCTT,C,CTTTTCTT
57991.15
7
4945186
.
T
TTCTTCTTCTTCC
323387.64
7
4945188
rs182408273
C
A
263081.92
7
4945189
.
T
C
81445.45
7
4945191
.
C
CTTCTTCTTCTT
80206.21
7
4945192
.
T
TTCTTCTTCTTCTTCTTCTTCTTCTTCC
29591.21
7
4945195
.
T
TTCC,TTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCG
20954.30
7
4945196
.
T
TC,TCTTCTTCTTCTTCTTCTTCTTCTTCTC
24669.49
7
4945197
.
C
CTTCTTCTTCTTCTTCTTCTT
17603.83
7
4945198
rs534478641
T
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCG,C
15460
7
4945199
rs532558274
T
TCTTCTTCTTCTTCTTCTTCTTCTC
9921.56
7
4945200
.
C
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCT,CTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
9960.58
7
4945201
.
T
TTCTTCTTCTTCTTCTTCTTCTTCG
2306.20
7
4945203
.
C
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTT
12998.12
7
4945204
.
T
TTCTTCTTCTTCTTCTTCTTCG
332.09
7
4945206
.
C
CTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTT
8120.97
7
4945209
.
CT
TT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT,C,CTTCTTTT
2139.10
7
4945210
.
T
TTCTTCTTCTTCTTCTTCTTCTTCTTCC
848.95
7
4945211
.
T
TCTTCTTCTTCTTCTTCTTCTC,TCTTCTTCTTCTTCTTCTC
360.93
7
4945212
.
C
CTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
5738.63
7
4945213
.
T
TTCTTCTTCTTCTTCC,TTCTTCTTCTTCC
1570.66
7
4945215
.
CTT
CTTTT,C
658.57
7
4945216
.
T
TTCTTCC
531.57
7
4945217
rs769927867
T
TCTTCTTCTC
856.85
7
4945218
.
CT
C,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT
408.58
7
4945222
.
T
TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC
259.84
7
4945234
.
TTCTTCC
T
333.66
7
4945237
rs551017803
TTCC
TTCTTCTTCTTCTTCTTCCTCC,TTCTTCTTCTTCTTCCTCC,T,TTCTTCTTCTTCCTCC,TTCTTCTTCCTCC
9288.43
7
4945239
rs71033001
CCTCT
CTTCTCT,C,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCT
217191.83
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
4945184
rs771560765
CTTT
CCTC,C
.
7
4945185
.
TTTC
CTTC
.
7
4945185
.
TTTCTTCTT
CTTCTTCTT
.
7
4945185
.
TTTC
T
.
7
4945185
rs778065489
TTTCTTC
T
.
7
4945188
rs182408273
C
A
.
7
4945198
rs534478641
T
C
.
7
4945199
rs532558274
T
C
.
7
4945202
rs770889638
T
TCTTCTG
.
7
4945202
rs759953712
TC
T
.
7
4945203
.
C
CTTCTTCTTCTTCTT
.
7
4945209
.
C
T
.
7
4945217
rs769927867
TC
T
.
7
4945235
.
TCTTCC
TCTTCT
.
7
4945237
rs551017803
T
C
.
7
4945239
rs71033001
C
CTTCTTCTTCTTCTTCTTC,CTT
.