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: | ||
---|---|---|
Phenotype | OMIM_id | Location |
{Glucocorticoid therapy, response to}, 614400 (3) | 614283 | 7p21.3 |
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
.