| General information of RDP00157 | |
|---|---|
| Gene Symbol: | SLC40A1 |
| RefSeq ID: | NM_014585 |
| Repeat coordinate: | chr2:189580769-189580790 (-) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.005; 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 |
| Hemochromatosis, type 4, 606069 (3) | 604653 | 2q32.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Familial apoceruloplasmin deficiency | NM_014585 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
189580769
rs3833570
TCCGCCG
TCCGCCGCCG,TCCGCCGCCGCCG,T,GCCGCCG,TCCGCCGCCGCCGCCG,TCCGCCGCCGCCGCCGCCG
12485453.62
2
189580777
.
C
CGCT
776.10
2
189580786
.
C
A
212.48
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
189580766
.
CTCTCCG
CTCTCCGCCG
.
2
189580768
.
CTCCGCCGCCG
CTCCGCCGCCGCCG
.
2
189580769
.
TCCG
TCCGCCG
.
2
189580769
.
TCCGCCG
TCCGCCGCCG,T
.
2
189580770
.
CCG
CCGCCG,CCGCCGCCG
.
2
189580772
rs199856978
GC
G
.
2
189580790
rs16836041
G
GCCG,GC,GG
.