General information of RDP00218
Gene Symbol:GLCCI1
RefSeq ID:NM_138426
Repeat coordinate:chr7:7968827-7968845 (+)
Repeat size:6
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.753; 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
{Glucocorticoid therapy, response to}, 614400 (3)6142837p21.3
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
7968826
rs570249106
AGCGGCG
AGCGGCGGCGGCGGCGGCG,AGCGGCGGCGGCG,AGCGGCGGCG,AGCG,A,AGCGGCGGCGGCGGCG
176471.49
7
7968831
.
C
A
7183.75
7
7968834
rs138627116
C
T
2664.09
7
7968837
.
C
G,T
1058.13
7
7968838
.
G
A
249.47
7
7968840
.
C
CGGCGGCGTT
197.48
7
7968845
.
G
T,GCGTTTGCGGTGGCGC
2211.13
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
7968828
rs368973929
C
A
.
7
7968829
.
G
GAGT
.
7
7968830
.
GCG
AGT
.
7
7968830
.
G
GC
.
7
7968831
.
C
CG
.
7
7968834
rs138627116
C
T
.