transmembrane protein 216 [Source:HGNC Symbol;Acc:25018]
11
61159159
61166335
1
q12.2
61159159
61166320
TMEM216
TMEM216-001
HGNC Symbol
HGNC transcript name
5
48.57
protein_coding
protein_coding
ensembl_hava
havana
KNOWN
KNOWN
51259
25018
TMEM216
27504
MSeqDR Master Exome Data Set M1: 87 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
11
61159571
C
T
ENST00000515837
ENSG00000187049
61159159
61166335
ENSP00000440638
TMEM216
1
TM216_HUMAN
-
-
5'_UTR
rs78053849
0.01323
-
-
-
-
-
het
4
2
11
61159661
T
C
ENST00000515837
ENSG00000187049
61159159
61166335
ENSP00000440638
TMEM216
1
TM216_HUMAN
-
-
5'_UTR
rs10750955
0.87788
-
-
-
-
-
hom
138
3
11
61159661
T
C
ENST00000515837
ENSG00000187049
61159159
61166335
ENSP00000440638
TMEM216
1
TM216_HUMAN
-
-
5'_UTR
rs10750955
0.87788
-
-
-
-
-
het
51
4
11
61159987
C
G
ENST00000334888
ENSG00000187049
61159159
61166335
ENSP00000334844
TMEM216
1
TM216_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
5
11
61159987
C
G
ENST00000398979
ENSG00000187049
61159159
61166335
ENSP00000381950
TMEM216
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
6
11
61159987
C
G
ENST00000515837
ENSG00000187049
61159159
61166335
ENSP00000440638
TMEM216
1
TM216_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
7
11
61160102
G
T
ENST00000334888
ENSG00000187049
61159159
61166335
ENSP00000334844
TMEM216
1
TM216_HUMAN
-
-
5'_UTR
rs7107543
0.207
-
lod=165:515
-
-
-
het
12
8
11
61160102
G
T
ENST00000334888
ENSG00000187049
61159159
61166335
ENSP00000334844
TMEM216
1
TM216_HUMAN
-
-
5'_UTR
rs7107543
0.207
-
lod=165:515
-
-
-
hom
2
9
11
61160102
G
T
ENST00000398979
ENSG00000187049
61159159
61166335
ENSP00000381950
TMEM216
1
-
-
-
5'_UTR
rs7107543
0.207
-
lod=165:515
-
-
-
het
12
10
11
61160102
G
T
ENST00000398979
ENSG00000187049
61159159
61166335
ENSP00000381950
TMEM216
1
-
-
-
5'_UTR
rs7107543
0.207
-
lod=165:515
-
-
-
hom
2
11
11
61160102
G
T
ENST00000515837
ENSG00000187049
61159159
61166335
ENSP00000440638
TMEM216
1
TM216_HUMAN
-
-
5'_UTR
rs7107543
0.207
-
lod=165:515
-
-
-
het
12
12
11
61160102
G
T
ENST00000515837
ENSG00000187049
61159159
61166335
ENSP00000440638
TMEM216
1
TM216_HUMAN
-
-
5'_UTR
rs7107543
0.207
-
lod=165:515
-
-
-
hom
2
13
11
61160102
G
T
ENST00000544795
ENSG00000187049
61159159
61166335
-
TMEM216
1
-
c.1G>T
p.V1L
non-syn
rs7107543
0.207
-
lod=165:515
-
-
-
het
12
14
11
61160102
G
T
ENST00000544795
ENSG00000187049
61159159
61166335
-
TMEM216
1
-
c.1G>T
p.V1L
non-syn
rs7107543
0.207
-
lod=165:515
-
-
-
hom
2
15
11
61160686
C
T
ENST00000334888
ENSG00000187049
61159159
61166335
ENSP00000334844
TMEM216
1
TM216_HUMAN
-
-
-17bp 3'_splice_site
rs147953784
0.00098
-
-
-
-
-
het
22
16
11
61160686
C
T
ENST00000398979
ENSG00000187049
61159159
61166335
ENSP00000381950
TMEM216
1
-
-
-
-17bp 3'_splice_site
rs147953784
0.00098
-
-
-
-
-
het
22
17
11
61160686
C
T
ENST00000515837
ENSG00000187049
61159159
61166335
ENSP00000440638
TMEM216
1
TM216_HUMAN
-
-
-17bp 3'_splice_site
rs147953784
0.00098
-
-
-
-
-
het
22
18
11
61160686
C
T
ENST00000541473
ENSG00000187049
61159159
61166335
-
TMEM216
1
-
-
-
-17bp 3'_splice_site
rs147953784
0.00098
-
-
-
-
-
het
22
19
11
61160686
C
T
ENST00000544795
ENSG00000187049
61159159
61166335
-
TMEM216
1
-
-
-
-17bp 3'_splice_site
rs147953784
0.00098
-
-
-
-
-
het
22
20
11
61161357
T
G
ENST00000334888
ENSG00000187049
61159159
61166335
ENSP00000334844
TMEM216
1
TM216_HUMAN
c.138T>G
p.G46G
syn
NA
-
-
lod=33:343
-
-
-
hom
11
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