solute carrier family 2 (facilitated glucose transporter), member 1 [Source:HGNC Symbol;Acc:11005]
1
43391052
43424530
-1
p34.2
43391052
43424501
SLC2A1
SLC2A1-001
HGNC Symbol
HGNC transcript name
6
52.74
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
6513
11005
SLC2A1
NM_006516
27511
MSeqDR Master Exome Data Set M1: 93 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
43391375
T
C
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
4
2
1
43391499
C
A
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
-
-
3'_UTR
rs55728431
0.1187
-
-
-
-
-
het
11
3
1
43391962
A
T
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
-
-
3'_UTR
NA
-
-
lod=480:629
-
-
-
het
1
4
1
43391991
G
A
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
-
-
3'_UTR
rs116589411
0.0125
-
lod=480:629
-
-
-
het
2
5
1
43392086
C
T
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
-
-
3'_UTR
rs6413525
0.003
-
lod=198:534
-
-
-
het
5
6
1
43392125
T
C
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
-
-
3'_UTR
NA
-
-
lod=198:534
-
-
-
het
2
7
1
43392233
G
T
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
8
1
43392250
C
G
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
-
-
3'_UTR
rs4658
0.5228
-
-
-
-
-
hom
45
9
1
43392250
C
G
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
-
-
3'_UTR
rs4658
0.5228
-
-
-
-
-
het
234
10
1
43392299
C
T
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
-
-
3'_UTR
NA
-
-
lod=124:484
-
-
-
het
1
11
1
43392366
C
T
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
-
-
3'_UTR
rs190760291
0.00095
-
lod=49:385
-
-
-
het
4
12
1
43392690
C
T
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
-
-
3'_UTR
rs2229683
-
T=4/C=8596;T=0/C=4406;T=4/C=13002
lod=31:336
-
-
-
het
6
13
1
43392783
C
T
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
c.1408G>A
p.G470R
non-syn
NA
-
-
lod=65:415
TOLERATED
B
-
het
1
14
1
43392819
G
T
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
c.1372C>A
p.R458R
syn
rs13306758
0.0181
T=3/G=8597;T=0/G=4406;T=3/G=13003
lod=163:514
-
-
-
het
1
15
1
43392895
G
A
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
c.1296C>T
p.Y432Y
syn
rs75485205
0.0085
A=2/G=8598;A=43/G=4363;A=45/G=12961
lod=469:627
-
-
-
het
2
16
1
43393362
C
T
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
c.1192G>A
p.G398S
non-syn
NA
-
-
lod=263:565
DAMAGING
B
-
het
2
17
1
43393384
G
A
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
c.1170C>T
p.I390I
syn
rs2236574
0.0207
A=3/G=8597;A=0/G=4406;A=3/G=13003
lod=263:565
-
-
-
het
1
18
1
43394612
T
C
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
c.1065A>G
p.L355L
syn
rs2228490
0.0945
C=8/T=8592;C=613/T=3793;C=621/T=12385
lod=24:309
-
-
-
het
13
19
1
43394666
G
A
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
c.1011C>T
p.H337H
syn
rs2229681
0.2127
A=8/G=8592;A=1045/G=3361;A=1053/G=11953
lod=111:472
-
-
-
het
23
20
1
43394666
G
A
ENST00000426263
ENSG00000117394
43391052
43424530
ENSP00000416293
SLC2A1
-1
GTR1_HUMAN
c.1011C>T
p.H337H
syn
rs2229681
0.2127
A=8/G=8592;A=1045/G=3361;A=1053/G=11953
lod=111:472
-
-
-
hom
2
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