STT3B, subunit of the oligosaccharyltransferase complex (catalytic) [Source:HGNC Symbol;Acc:30611]
3
31574130
31679112
1
p23
31574130
31661766
STT3B
STT3B-002
HGNC Symbol
HGNC transcript name
7
35.96
protein_coding
processed_transcript
ensembl_hava
havana
KNOWN
KNOWN
201595
30611
STT3B
27517
MSeqDR Master Exome Data Set M1: 131 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
3
31574146
G
C
ENST00000453168
ENSG00000163527
31574130
31679112
-
STT3B
1
-
c.17G>C
p.R6P
non-syn
NA
-
-
lod=172:519
-
-
-
het
1
2
3
31574164
G
A
ENST00000453168
ENSG00000163527
31574130
31679112
-
STT3B
1
-
c.35G>A
p.C12Y
non-syn
NA
-
-
lod=172:519
-
-
-
het
1
3
3
31574258
A
C
ENST00000453168
ENSG00000163527
31574130
31679112
-
STT3B
1
-
c.129A>C
p.P43P
syn
rs62234703
0.3333
-
lod=386:606
-
-
-
het
221
4
3
31574258
A
C
ENST00000453168
ENSG00000163527
31574130
31679112
-
STT3B
1
-
c.129A>C
p.P43P
syn
rs62234703
0.3333
-
lod=386:606
-
-
-
hom
38
5
3
31574393
T
+TCC
ENST00000295770
ENSG00000163527
31574130
31679112
ENSP00000295770
STT3B
1
STT3B_HUMAN
-
-
5'_UTR
NA
-
-
lod=181:525
-
-
-
het
1
6
3
31574393
T
+TCC
ENST00000453168
ENSG00000163527
31574130
31679112
-
STT3B
1
-
c.264_265insTCC
p.S89NA
non-syn
NA
-
-
lod=181:525
-
-
-
het
1
7
3
31574393
T
+TCCTCC
ENST00000295770
ENSG00000163527
31574130
31679112
ENSP00000295770
STT3B
1
STT3B_HUMAN
-
-
5'_UTR
NA
-
-
lod=181:525
-
-
-
het
17
8
3
31574393
T
+TCCTCC
ENST00000453168
ENSG00000163527
31574130
31679112
-
STT3B
1
-
c.264_265insTCCTCC
p.S89NA
non-syn
NA
-
-
lod=181:525
-
-
-
het
17
9
3
31574395
C
T
ENST00000295770
ENSG00000163527
31574130
31679112
ENSP00000295770
STT3B
1
STT3B_HUMAN
-
-
5'_UTR
NA
-
-
lod=181:525
-
-
-
het
1
10
3
31574395
C
T
ENST00000453168
ENSG00000163527
31574130
31679112
-
STT3B
1
-
c.266C>T
p.S89F
non-syn
NA
-
-
lod=181:525
-
-
-
het
1
11
3
31574413
C
G
ENST00000295770
ENSG00000163527
31574130
31679112
ENSP00000295770
STT3B
1
STT3B_HUMAN
-
-
5'_UTR
NA
-
-
lod=181:525
-
-
-
het
1
12
3
31574413
C
G
ENST00000453168
ENSG00000163527
31574130
31679112
-
STT3B
1
-
c.284C>G
p.S95C
non-syn
NA
-
-
lod=181:525
-
-
-
het
1
13
3
31574442
A
+GGC
ENST00000295770
ENSG00000163527
31574130
31679112
ENSP00000295770
STT3B
1
STT3B_HUMAN
-
-
5'_UTR
NA
-
-
lod=181:525
-
-
-
het
1
14
3
31574442
A
+GGC
ENST00000453168
ENSG00000163527
31574130
31679112
-
STT3B
1
-
c.313_314insGGC
p.R105NA
non-syn
NA
-
-
lod=181:525
-
-
-
het
1
15
3
31574534
T
G
ENST00000295770
ENSG00000163527
31574130
31679112
ENSP00000295770
STT3B
1
STT3B_HUMAN
c.44T>G
p.L15R
non-syn
NA
-
-
lod=1564:755
DAMAGING
P
-
het
1
16
3
31574534
T
G
ENST00000423527
ENSG00000163527
31574130
31679112
-
STT3B
1
-
c.71T>G
p.L24R
non-syn
NA
-
-
lod=1564:755
DAMAGING
P
-
het
1
17
3
31574534
T
G
ENST00000453168
ENSG00000163527
31574130
31679112
-
STT3B
1
-
c.405T>G
p.P135P
syn
NA
-
-
lod=1564:755
DAMAGING
P
-
het
1
18
3
31575172
G
C
ENST00000462235
ENSG00000163527
31574130
31679112
-
STT3B
1
-
c.56G>C
p.G19A
non-syn
rs73824170
0.6327
-
-
-
-
-
het
1
19
3
31617945
T
C
ENST00000295770
ENSG00000163527
31574130
31679112
ENSP00000295770
STT3B
1
STT3B_HUMAN
c.372T>C
p.N124N
syn
rs150886803
0.0028
C=16/T=8578;C=4/T=4402;C=20/T=12980
lod=907:697
-
-
-
het
8
20
3
31617945
T
C
ENST00000423527
ENSG00000163527
31574130
31679112
-
STT3B
1
-
c.399T>C
p.N133N
syn
rs150886803
0.0028
C=16/T=8578;C=4/T=4402;C=20/T=12980
lod=907:697
-
-
-
het
8
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