| General information of RDP00177 | |
|---|---|
| Gene Symbol: | CYB5R3 |
| RefSeq ID: | NM_000398 |
| Repeat coordinate: | chr22:42649344-42649362 (-) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.012; 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 |
| Methemoglobinemia, type II, 250800 (3) | 613213 | 22q13.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Nadh-Cytochrome B5 Reductase Deficiency, Type Ii | NM_000398 | 0.30 | 0 | 0 | CTD_human |
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
42649342
rs529486436
TCGC
T,TCGCCGC
57525.77
22
42649347
.
G
A
438.30
22
42649350
.
G
A
760
22
42649353
.
G
A
665.88
22
42649356
.
G
A
637.62
22
42649359
.
G
A
605.75
22
42649361
.
C
A
147.84
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
42649342
rs529486436
TCGCCGC
TCGCCGCCGCCGC,TCGC,TCGCCGCCGC,T
83181.21
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
42649342
rs750421550
TCGC
TCGCCGC,T
.
22
42649353
.
G
GC
.