immunoglobulin superfamily, member 3 [Source:HGNC Symbol;Acc:5950]
1
117117031
117210375
-1
p13.1
117117031
117210375
IGSF3
IGSF3-001
HGNC Symbol
HGNC transcript name
4
46.14
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
3321
5950
IGSF3
NM_001007237
27511
MSeqDR Master Exome Data Set M1: 204 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
1
117117062
A
C
ENST00000369483
ENSG00000143061
117117031
117210375
ENSP00000358495
IGSF3
-1
-
-
-
3'_UTR
rs142424788
0.0029
-
lod=312:583
-
-
-
het
1
2
1
117117062
A
C
ENST00000369486
ENSG00000143061
117117031
117210375
ENSP00000358498
IGSF3
-1
IGSF3_HUMAN
-
-
3'_UTR
rs142424788
0.0029
-
lod=312:583
-
-
-
het
1
3
1
117117110
T
+A
ENST00000369483
ENSG00000143061
117117031
117210375
ENSP00000358495
IGSF3
-1
-
-
-
3'_UTR
rs201510658
-
-
lod=312:583
-
-
-
het
15
4
1
117117110
T
+A
ENST00000369486
ENSG00000143061
117117031
117210375
ENSP00000358498
IGSF3
-1
IGSF3_HUMAN
-
-
3'_UTR
rs201510658
-
-
lod=312:583
-
-
-
het
15
5
1
117117646
T
C
ENST00000369483
ENSG00000143061
117117031
117210375
ENSP00000358495
IGSF3
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
6
1
117117646
T
C
ENST00000369486
ENSG00000143061
117117031
117210375
ENSP00000358498
IGSF3
-1
IGSF3_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
7
1
117117718
C
T
ENST00000369483
ENSG00000143061
117117031
117210375
ENSP00000358495
IGSF3
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
8
1
117117718
C
T
ENST00000369486
ENSG00000143061
117117031
117210375
ENSP00000358498
IGSF3
-1
IGSF3_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
9
1
117117834
G
T
ENST00000369483
ENSG00000143061
117117031
117210375
ENSP00000358495
IGSF3
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
10
1
117117834
G
T
ENST00000369486
ENSG00000143061
117117031
117210375
ENSP00000358498
IGSF3
-1
IGSF3_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
11
1
117117967
G
A
ENST00000369483
ENSG00000143061
117117031
117210375
ENSP00000358495
IGSF3
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
12
1
117117967
G
A
ENST00000369486
ENSG00000143061
117117031
117210375
ENSP00000358498
IGSF3
-1
IGSF3_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
13
1
117118043
G
A
ENST00000369483
ENSG00000143061
117117031
117210375
ENSP00000358495
IGSF3
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
14
1
117118043
G
A
ENST00000369486
ENSG00000143061
117117031
117210375
ENSP00000358498
IGSF3
-1
IGSF3_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
15
1
117118617
G
T
ENST00000369483
ENSG00000143061
117117031
117210375
ENSP00000358495
IGSF3
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
16
1
117118617
G
T
ENST00000369486
ENSG00000143061
117117031
117210375
ENSP00000358498
IGSF3
-1
IGSF3_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
17
1
117118644
T
+A
ENST00000369483
ENSG00000143061
117117031
117210375
ENSP00000358495
IGSF3
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
18
1
117118644
T
+A
ENST00000369486
ENSG00000143061
117117031
117210375
ENSP00000358498
IGSF3
-1
IGSF3_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
19
1
117118816
C
G
ENST00000369483
ENSG00000143061
117117031
117210375
ENSP00000358495
IGSF3
-1
-
-
-
3'_UTR
rs76203894
0.0848
-
-
-
-
-
het
5
20
1
117118816
C
G
ENST00000369486
ENSG00000143061
117117031
117210375
ENSP00000358498
IGSF3
-1
IGSF3_HUMAN
-
-
3'_UTR
rs76203894
0.0848
-
-
-
-
-
het
5
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