| General information of RDP00289 | |
|---|---|
| Gene Symbol: | PRDM12 |
| RefSeq ID: | NM_021619 |
| Repeat coordinate: | chr9:130681607-130681640 (+) |
| Repeat size: | 11 |
| Repeat region: | CDS |
| Repeat unit: | CCG |
| Repeat conservation: | PhastCons_score: 0.716; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | AAAAAAAAAA |
| 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 |
| Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3) | 616458 | 9q34.12 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII | NM_021619 | 0.70 | 4 | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
130681605
475811
TCGCCGC
T
.
9
130681605
475809
TCGCCGCCGC
T
.
9
130681605
475808
TCGCCGCCGCCGCCGC
T
.
9
130681605
475807
TCGCCGCCGCCGCCGCCGC
T
.
9
130681605
475805
TCGCCGCCGCCGCCGCCGCCGC
T
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
130681605
rs752427775
TCGCCGCCGCCGCCGCCGC
TCGCCGCCGCCGCCGCCGCCGC,TCGC,TCGCCGCCGCCGCCGC,T,TCGCCGCCGC
24029.25
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
130681605
rs752427775
TCGCCGCCGCCGCCGCCGC
TCGC,TCGCCGCCGCCGCCGCCGCCGC,TCGCCGCCGC,TCGCCGCCGCCGCCGCCGCCGCCGC,TCGCCGCCGCCGCCGCCGCCGCCGCCGC,T
5144858.54
9
130681610
.
GC
G
780891.61
9
130681614
.
C
CT
761673.06
9
130681619
.
GC
G
311269.71
9
130681620
.
C
CCTT
305345.27
9
130681622
.
GCCGCCGCC
G
97322.10
9
130681636
.
C
CGCG
237.69
9
130681639
.
C
CGCA
188.28
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
130681605
.
TCGCCGC
TCGCCGCCGC,T
.
9
130681605
rs752427775
TCGCCGCCGC
TCGCCGCCGCCGC,TCGCCGCCGCCGCCGC,T
.
9
130681605
.
TCGCCGCCGCCGC
T
.
9
130681605
.
TCGCCGCCGCCGCCGC
TCGCCGCCGCCGCCGCCGC,T
.
9
130681605
.
TCGCCGCCGCCGCCGCCGC
TCGCCGCCGCCGCCGCCGCCGC,T
.