| General information of RDP00415 | |
|---|---|
| Gene Symbol: | TG |
| RefSeq ID: | NM_003235 |
| Repeat coordinate: | chr8:133055824-133055872 (+) |
| Repeat size: | 16 |
| Repeat region: | intron |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.033; 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 |
| {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3) | 188450 | 8q24.22 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Thyroid Dyshormonogenesis 1 | NM_003235 | 0.30 | 2 | 0 | ORPHANET |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
133055824
.
CCAGCAGCAGCAGCAGCAGCAG
C
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
133055824
rs764770915
CCAGCAGCAGCAGCAGCAGCAGCAGCAG
CCAGCAG,CCAG,C,CCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,CCAGCAGCAG
17575700.74
8
133055829
.
A
G
14730463.40
8
133055831
.
CAGCAGCAGCAGCAGCAGCA
C
14724058.55
8
133055834
.
CA
C
14722565.81
8
133055837
.
C
A
14719579.03
8
133055838
.
AGCAGCAGCAGCAGCAGCAGC
A
14719716.88
8
133055840
.
CAG
C
14717360.19
8
133055843
.
C
G
14714375.45
8
133055844
.
AGCAGCAGCAGCAGCAGCAGC
A
14714360.76
8
133055845
rs750506936
GC
G
14715375.42
8
133055847
.
AGCAGCAGCAGCAGCAGCAGC
A
7807189.76
8
133055857
.
G
C
4701.32
8
133055866
.
G
GCAA
2835.38
8
133055869
.
G
T
972.43
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
133055824
.
CCAG
C
.
8
133055824
rs59475951
CCAGCAGCAGCAGCAGCAGCAG
CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAGCAG,C
.
8
133055824
rs796199261
CCAGCAGCAGCAGCAGCAGCAGCAG
CCAG,CCAGCAGCAGCAGCAGCAGCAGCAGCAG,C
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCA
CA
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAG
CAG,CAGCAG
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGC
CAGC,CAGCAGC
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
CAGCAG
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
CAGCAGCA
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
CAGCAGCAGCAGCAG
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
CAGCAGCAGCAGCAGCAGCA
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
CAGCAGCAGCAGCAGCAGCAGC
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
CAGCAGCAGCAGCAGCAGCA
.
8
133055825
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
CAGCAGCAGCAGCAGCAGCAGC
.
8
133055842
.
G
T
.
8
133055845
rs750506936
G
C,T
.
8
133055848
rs767568225
G
C
.
8
133055851
rs376246674
G
GGGCGCA
.
8
133055852
.
C
G
.
8
133055853
.
A
G
.