General information of RDP00021
Gene Symbol:BLMH
RefSeq ID:NM_000386
Repeat coordinate:chr17:30291954-30291981 (-)
Repeat size:9
Repeat region:5' UTR
Repeat unit:CCG
Repeat conservation:PhastCons_score: 0.011; 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 gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
30291954
rs34774348
TCGGCGG
TCGGCGGCGG,TCGG,TCGGCGGCGGCGGCGG,TCGGCGGCGGCGG,TCGGCGGCGGCGGCGGCGG,T
6833678.67
17
30291955
.
C
T
37183.40
17
30291956
rs545837898
G
C
12015.30
17
30291957
.
G
GCGC,T
14522.98
17
30291959
.
G
T
5053.42
17
30291974
.
G
GGCT
732.41
17
30291980
.
G
GGCGGGGAGGCTGAGGCT
296.54
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
30291954
.
TCGG
T
.
17
30291954
.
TCGG
TCGGCGG,T
.
17
30291954
.
TCGGCGG
T
.
17
30291955
.
CGGC
CGGCGGC
.
17
30291956
rs545837898
G
C
.
17
30291980
.
G
A
.