CDGSH iron sulfur domain 2 [Source:HGNC Symbol;Acc:24212]
4
103790135
103810399
1
q24
103790135
103810399
CISD2
CISD2-001
HGNC Symbol
HGNC transcript name
3
39.45
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
493856
24212
CISD2
NM_001008388
27524
MSeqDR Master Exome Data Set M1: 21 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
4
103790158
C
T
ENST00000273986
ENSG00000145354
103790135
103810399
ENSP00000273986
CISD2
1
CISD2_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
9
2
4
103790186
G
T
ENST00000273986
ENSG00000145354
103790135
103810399
ENSP00000273986
CISD2
1
CISD2_HUMAN
-
-
5'_UTR
rs223332
0.8056
-
-
-
-
-
hom
218
3
4
103790186
G
T
ENST00000273986
ENSG00000145354
103790135
103810399
ENSP00000273986
CISD2
1
CISD2_HUMAN
-
-
5'_UTR
rs223332
0.8056
-
-
-
-
-
het
376
4
4
103790210
G
A
ENST00000273986
ENSG00000145354
103790135
103810399
ENSP00000273986
CISD2
1
CISD2_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
5
4
103790224
T
G
ENST00000273986
ENSG00000145354
103790135
103810399
ENSP00000273986
CISD2
1
CISD2_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
6
4
103790224
T
G
ENST00000574446
ENSG00000145354
103790135
103810399
ENSP00000458976
CISD2
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
7
4
103790253
G
A
ENST00000273986
ENSG00000145354
103790135
103810399
ENSP00000273986
CISD2
1
CISD2_HUMAN
c.12G>A
p.E4E
syn
rs145312923
0.0041
A=0/G=8600;A=14/G=4392;A=14/G=12992
lod=192:531
-
-
-
het
1
8
4
103790253
G
A
ENST00000574446
ENSG00000145354
103790135
103810399
ENSP00000458976
CISD2
1
-
c.12G>A
p.E4E
syn
rs145312923
0.0041
A=0/G=8600;A=14/G=4392;A=14/G=12992
lod=192:531
-
-
-
het
1
9
4
103790595
C
A
ENST00000503643
ENSG00000145354
103790135
103810399
ENSP00000423716
CISD2
1
-
c.59C>A
p.P20Q
non-syn
rs79799774
0.0463
-
-
-
-
-
het
5
10
4
103790637
C
T
ENST00000503643
ENSG00000145354
103790135
103810399
ENSP00000423716
CISD2
1
-
c.101C>T
p.S34F
non-syn
rs113711399
0.0188
-
-
-
-
-
het
10
11
4
103806364
C
A
ENST00000273986
ENSG00000145354
103790135
103810399
ENSP00000273986
CISD2
1
CISD2_HUMAN
-
-
-9bp 3'_splice_site
rs190212874
0.0014
A=0/C=8600;A=11/C=4395;A=11/C=12995
-
-
-
-
het
1
12
4
103806364
C
A
ENST00000503643
ENSG00000145354
103790135
103810399
ENSP00000423716
CISD2
1
-
-
-
-9bp 3'_splice_site
rs190212874
0.0014
A=0/C=8600;A=11/C=4395;A=11/C=12995
-
-
-
-
het
1
13
4
103806364
C
A
ENST00000574446
ENSG00000145354
103790135
103810399
ENSP00000458976
CISD2
1
-
-
-
-9bp 3'_splice_site
rs190212874
0.0014
A=0/C=8600;A=11/C=4395;A=11/C=12995
-
-
-
-
het
1
14
4
103809211
C
+TG
ENST00000273986
ENSG00000145354
103790135
103810399
ENSP00000273986
CISD2
1
CISD2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
15
4
103809211
C
-TG
ENST00000273986
ENSG00000145354
103790135
103810399
ENSP00000273986
CISD2
1
CISD2_HUMAN
-
-
3'_UTR
rs35045951
-
-
-
-
-
-
het
47
16
4
103809211
C
-TGTG
ENST00000273986
ENSG00000145354
103790135
103810399
ENSP00000273986
CISD2
1
CISD2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
21
17
4
103809323
T
+C
ENST00000273986
ENSG00000145354
103790135
103810399
ENSP00000273986
CISD2
1
CISD2_HUMAN
-
-
3'_UTR
rs35331282
-
-
-
-
-
-
het
99
18
4
103809323
T
+C
ENST00000273986
ENSG00000145354
103790135
103810399
ENSP00000273986
CISD2
1
CISD2_HUMAN
-
-
3'_UTR
rs35331282
-
-
-
-
-
-
hom
52
19
4
103809914
C
A
ENST00000273986
ENSG00000145354
103790135
103810399
ENSP00000273986
CISD2
1
CISD2_HUMAN
-
-
3'_UTR
rs223311
0.7708
-
-
-
-
-
het
327
20
4
103809914
C
A
ENST00000273986
ENSG00000145354
103790135
103810399
ENSP00000273986
CISD2
1
CISD2_HUMAN
-
-
3'_UTR
rs223311
0.7708
-
-
-
-
-
hom
171
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