General information of RDP00119
Gene Symbol:TMC7
RefSeq ID:NM_001300732
Repeat coordinate:chr16:18984000-18984018 (+)
Repeat size:6
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.422; 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 ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
18983998
.
AGGC
A
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
18984014
.
G
A,T
1058.20
16
18984016
.
C
T,A
450.67
16
18984018
.
G
A
206.37
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
18983998
rs530038460
AGGCGGCGGC
AGGCGGCGGCGGC,AGGCGGCGGCGGCGGCGGC,A,AGGCGGCGGCGGCGGCGGCGGC,AGGC,AGGCGGCGGCGGCGGC
590297.62
16
18984009
.
G
A
500.46
16
18984010
.
C
G
309.47
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
18983998
.
AGGC
A
.
16
18983998
rs765099222
AGGC
A
.
16
18983998
.
AGGCGGCGGC
A,AGGCGGCGGCGGC,AGGCGGCGGCGGCGGCGGC
.
16
18984005
rs541738226
G
A
.
16
18984010
.
C
G
.
16
18984013
.
C
G
.
16
18984016
.
C
T
.