DRED

General information of RDP00407
Gene Symbol:LRMDA
RefSeq ID:NM_001305581
Repeat coordinate:chr10:75973021-75973072 (+)
Repeat size:17
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:
PhenotypeOMIM_idLocation
Albinism, oculocutaneous, type VII, 615179 (3)61453710q22.2-q22.3
Mapping repeat track to DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
Prescription Drug AbuseNM_0013055810.3010CTD_human
Mapping repeat track to 1000 Genomes:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
75973021
.
ACAG
A
100
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
75973018
.
ACAACAGCAG
A,ACAG
13201.82
10
75973021
rs796669226
ACAGCAGCAGCAGCAGCAGCAG
ACAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAG,ACAGCAGCAG,A
7934368.60
10
75973028
.
C
A
2108421.42
10
75973032
.
AGC
A
1925543.42
10
75973034
.
C
CAGA
1087371.64
10
75973037
.
CA
C
707995.85
10
75973044
.
A
G
87968.97
10
75973049
.
C
T
52467.39
10
75973065
.
AGC
A
930.96
10
75973068
rs572888391
AG
A
930.64
10
75973069
rs539875479
G
A,GCAA
2968.98
10
75973071
.
A
AGCT,T
1307.72
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
75973021
rs370187597
ACAG
ACAGCAG,A
.
10
75973021
.
ACAGCAG
ACAG,A
.
10
75973021
.
ACAGCAGCAG
ACAGCAG,A
.
10
75973021
.
ACAGCAGCAGCAG
ACAGCAG,ACAGCAGCAG,A
.
10
75973021
.
ACAGCAGCAGCAGCAG
ACAG,ACAGCAGCAGCAG,A
.
10
75973021
.
ACAGCAGCAGCAGCAGCAG
A
.
10
75973021
rs369145633
ACAGCAGCAGCAGCAGCAGCAG
ACAGCAGCAG,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAG,A
.
10
75973021
.
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
A
.
10
75973022
rs746894088
C
T
.
10
75973024
rs771023642
G
A
.
10
75973033
.
G
A
.
10
75973042
.
G
A
.
10
75973068
rs572888391
A
G
.
10
75973069
rs539875479
G
A
.
10
75973071
.
A
T
.