ring finger protein 216 [Source:HGNC Symbol;Acc:21698]
7
5659678
5821370
-1
p22.1
5659678
5821327
RNF216
RNF216-001
HGNC Symbol
HGNC transcript name
9
45.52
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
54476
21698
RNF216
NM_207111
27506
MSeqDR Master Exome Data Set M1: 255 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
7
5659715
G
C
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
rs116952741
0.01644
-
lod=214:543
-
-
-
het
33
2
7
5659715
G
C
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
rs116952741
0.01644
-
lod=214:543
-
-
-
hom
1
3
7
5659756
G
A
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
4
7
5659758
A
G
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
5
7
5659784
G
C
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
NA
-
-
lod=62:410
-
-
-
het
1
6
7
5659799
G
A
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
7
7
5659814
C
T
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
NA
-
-
lod=84:443
-
-
-
het
2
8
7
5659815
G
A
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
rs138928771
0.0187
-
lod=84:443
-
-
-
het
1
9
7
5659819
C
-TTG
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
NA
-
-
lod=84:443
-
-
-
het
1
10
7
5659852
T
A
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
rs79215819
0.0391
-
-
-
-
-
het
16
11
7
5659852
T
A
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
rs79215819
0.0391
-
-
-
-
-
hom
1
12
7
5659898
C
T
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
NA
-
-
lod=206:539
-
-
-
het
1
13
7
5659904
C
T
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
NA
-
-
lod=206:539
-
-
-
het
1
14
7
5659993
C
T
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
15
7
5660032
T
A
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
16
7
5660047
C
T
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
rs77248118
0.0735
-
-
-
-
-
het
57
17
7
5660057
T
A
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
rs852442
0.3404
-
-
-
-
-
het
76
18
7
5660057
T
A
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
rs852442
0.3404
-
-
-
-
-
hom
8
19
7
5660084
A
G
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
6
20
7
5660188
G
A
ENST00000425013
ENSG00000011275
5659678
5821370
ENSP00000404602
RNF216
-1
RN216_HUMAN
-
-
3'_UTR
rs11974054
0.0637
-
-
-
-
-
het
12
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