DRED

General information of RDP00410
Gene Symbol:PMP22
RefSeq ID:NM_000304
Repeat coordinate:chr17:15252398-15252434 (-)
Repeat size:12
Repeat region:intron
Repeat unit:CAG
Repeat conservation:PhastCons_score: 0.013; 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:
PhenotypeOMIM_idLocation
Roussy-Levy syndrome, 180800 (3)60109717p12
Mapping repeat track to DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
Peripheral Nervous System DiseasesNM_0003040.5020CTD_human
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
15252396
rs756116743
TTGCTGCTGCTGCTGC
TTGC,TTGCTGCTGC,T,TTGCTGCTGCTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGC
14811340.24
17
15252397
.
TGC
T
13694373.85
17
15252398
.
GC
G
13693454.77
17
15252399
.
C
T
13694017.43
17
15252400
.
TGCTGCTGCTGC
T
12735716.72
17
15252401
.
GC
G
12713865.36
17
15252403
.
TGCTGCTGCTGC
T
12615160.09
17
15252405
.
C
A
12612572.91
17
15252407
.
G
A
12604223.33
17
15252408
rs111477790
C
T
12603979.03
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
15252394
.
TGTTGCTGC
TGCTGCTGC
.
17
15252395
.
GTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGT
GTTGCTGCTGCTGCTGCTGCTGCTGCTGT
.
17
15252396
.
TTGCTGCTGCTGC
T
.
17
15252396
rs769113514
TTGC
T
.
17
15252396
rs574745297
TTGCTGCTGCTGC
T,TTGCTGCTGC,TTGCTGCTGCTGCTGC
.
17
15252396
.
TTGCTGCTGCTGCTGC
T,TTGC
.
17
15252397
.
TGCTGCTGC
TGCTGTTGC
.
17
15252397
.
TGCTGCTGCTGCT
T
.
17
15252397
.
TGCTGCTGCTGCTGCTGC
TGCTGC
.
17
15252397
.
TGCTGCTGCTGCTGCTGCTGC
TGCTGCTGC
.
17
15252397
.
TGCTGCTGCTGCTGCTGCTGCTGC
TGCTGCTGCTGCTGCTGCTGC
.
17
15252397
.
TGCTGCTGCTGCTGCTGCTGCTGCT
TGCTGCTGCTGCT
.
17
15252399
.
C
T
.
17
15252402
.
C
T
.
17
15252405
.
CTGC
CTGT
.
17
15252408
rs111477790
C
T
.
17
15252411
.
C
T
.
17
15252423
rs199806418
C
T
.