solute carrier family 52 (riboflavin transporter), member 2 [Source:HGNC Symbol;Acc:30224]
8
145577795
145584932
1
q24.3
145577795
145583360
SLC52A2
SLC52A2-010
HGNC Symbol
HGNC transcript name
14
65.94
protein_coding
protein_coding
ensembl_hava
havana
KNOWN
NOVEL
79581
30224
SLC52A2
27523
MSeqDR Master Exome Data Set M1: 257 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
8
145577824
C
G
ENST00000524541
ENSG00000185803
145577795
145584932
ENSP00000434239
SLC52A2
1
-
-
-
5'_UTR
rs880701
0.5819
-
-
-
-
-
het
398
2
8
145577824
C
G
ENST00000524541
ENSG00000185803
145577795
145584932
ENSP00000434239
SLC52A2
1
-
-
-
5'_UTR
rs880701
0.5819
-
-
-
-
-
hom
155
3
8
145577829
A
C
ENST00000524541
ENSG00000185803
145577795
145584932
ENSP00000434239
SLC52A2
1
-
-
-
5'_UTR
rs880702
0.6152
-
-
-
-
-
hom
155
4
8
145577829
A
C
ENST00000524541
ENSG00000185803
145577795
145584932
ENSP00000434239
SLC52A2
1
-
-
-
5'_UTR
rs880702
0.6152
-
-
-
-
-
het
405
5
8
145577845
G
A
ENST00000524541
ENSG00000185803
145577795
145584932
ENSP00000434239
SLC52A2
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
6
8
145577899
C
T
ENST00000524541
ENSG00000185803
145577795
145584932
ENSP00000434239
SLC52A2
1
-
-
-
5'_UTR
rs116055973
0.0363
-
-
TOLERATED
-
-
het
15
7
8
145577921
C
T
ENST00000524541
ENSG00000185803
145577795
145584932
ENSP00000434239
SLC52A2
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
8
8
8
145577931
C
-TGA
ENST00000524541
ENSG00000185803
145577795
145584932
ENSP00000434239
SLC52A2
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
9
8
145578358
C
T
ENST00000532815
ENSG00000185803
145577795
145584932
-
SLC52A2
1
-
-
-
+8bp 5'_splice_site
NA
-
-
-
DAMAGING
-
-
het
1
10
8
145580984
A
G
ENST00000532815
ENSG00000185803
145577795
145584932
-
SLC52A2
1
-
c.121A>G
p.S41G
non-syn
rs2272666
0.6115
-
-
-
-
-
hom
91
11
8
145580984
A
G
ENST00000532815
ENSG00000185803
145577795
145584932
-
SLC52A2
1
-
c.121A>G
p.S41G
non-syn
rs2272666
0.6115
-
-
-
-
-
het
155
12
8
145581005
G
T
ENST00000532815
ENSG00000185803
145577795
145584932
-
SLC52A2
1
-
c.142G>T
p.A48S
non-syn
rs115001185
0.0508
-
-
-
-
-
het
12
13
8
145581024
C
T
ENST00000532815
ENSG00000185803
145577795
145584932
-
SLC52A2
1
-
c.161C>T
p.A54V
non-syn
rs116687799
0.0486
-
-
-
-
-
het
12
14
8
145582740
A
G
ENST00000526779
ENSG00000185803
145577795
145584932
ENSP00000436917
SLC52A2
1
-
-
-
+15bp 5'_splice_site
rs114304511
0.0449
-
-
-
-
-
het
13
15
8
145582740
A
G
ENST00000526891
ENSG00000185803
145577795
145584932
-
SLC52A2
1
-
-
-
+15bp 5'_splice_site
rs114304511
0.0449
-
-
-
-
-
het
13
16
8
145582740
A
G
ENST00000532887
ENSG00000185803
145577795
145584932
ENSP00000436768
SLC52A2
1
S52A2_HUMAN
-
-
+15bp 5'_splice_site
rs114304511
0.0449
-
-
-
-
-
het
13
17
8
145582740
A
G
ENST00000533662
ENSG00000185803
145577795
145584932
-
SLC52A2
1
-
c.486A>G
p.Q162Q
syn
rs114304511
0.0449
-
-
-
-
-
het
13
18
8
145582740
A
G
ENST00000540505
ENSG00000185803
145577795
145584932
ENSP00000440400
SLC52A2
1
-
-
-
+15bp 5'_splice_site
rs114304511
0.0449
-
-
-
-
-
het
13
19
8
145582784
T
C
ENST00000533662
ENSG00000185803
145577795
145584932
-
SLC52A2
1
-
c.530T>C
p.L177P
non-syn
NA
-
-
-
-
-
-
het
3
20
8
145582809
C
G
ENST00000533662
ENSG00000185803
145577795
145584932
-
SLC52A2
1
-
c.555C>G
p.G185G
syn
rs115365198
0.0414
-
-
-
-
-
het
13
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