aldo-keto reductase family 1, member D1 [Source:HGNC Symbol;Acc:388]
7
137687070
137802732
1
q33
137687070
137801612
AKR1D1
AKR1D1-004
HGNC Symbol
HGNC transcript name
6
39.29
protein_coding
processed_transcript
ensembl_hava
havana
KNOWN
KNOWN
6718
388
AKR1D1
27506
MSeqDR Master Exome Data Set M1: 151 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
7
137761285
T
G
ENST00000242375
ENSG00000122787
137687070
137802732
ENSP00000242375
AKR1D1
1
AK1D1_HUMAN
c.21T>G
p.S7R
non-syn
NA
-
-
lod=68:420
TOLERATED
B
-
het
2
2
7
137761285
T
G
ENST00000411726
ENSG00000122787
137687070
137802732
ENSP00000402374
AKR1D1
1
AK1D1_HUMAN
c.21T>G
p.S7R
non-syn
NA
-
-
lod=68:420
TOLERATED
B
-
het
2
3
7
137761285
T
G
ENST00000432161
ENSG00000122787
137687070
137802732
ENSP00000389197
AKR1D1
1
AK1D1_HUMAN
c.21T>G
p.S7R
non-syn
NA
-
-
lod=68:420
TOLERATED
B
-
het
2
4
7
137761285
T
G
ENST00000438242
ENSG00000122787
137687070
137802732
ENSP00000397042
AKR1D1
1
-
c.21T>G
p.S7R
non-syn
NA
-
-
lod=68:420
TOLERATED
B
-
het
2
5
7
137773471
C
T
ENST00000242375
ENSG00000122787
137687070
137802732
ENSP00000242375
AKR1D1
1
AK1D1_HUMAN
c.218C>T
p.A73V
non-syn
NA
-
-
-
DAMAGING
P
-
het
1
6
7
137773471
C
T
ENST00000411726
ENSG00000122787
137687070
137802732
ENSP00000402374
AKR1D1
1
AK1D1_HUMAN
c.218C>T
p.A73V
non-syn
NA
-
-
-
DAMAGING
P
-
het
1
7
7
137773471
C
T
ENST00000432161
ENSG00000122787
137687070
137802732
ENSP00000389197
AKR1D1
1
AK1D1_HUMAN
c.218C>T
p.A73V
non-syn
NA
-
-
-
DAMAGING
P
-
het
1
8
7
137773515
G
T
ENST00000242375
ENSG00000122787
137687070
137802732
ENSP00000242375
AKR1D1
1
AK1D1_HUMAN
-
-
+1bp 5'_splice_site
rs201988060
-
T=1/G=8599;T=1/G=4405;T=2/G=13004
lod=63:412
-
-
-
het
3
9
7
137773515
G
T
ENST00000411726
ENSG00000122787
137687070
137802732
ENSP00000402374
AKR1D1
1
AK1D1_HUMAN
-
-
+1bp 5'_splice_site
rs201988060
-
T=1/G=8599;T=1/G=4405;T=2/G=13004
lod=63:412
-
-
-
het
3
10
7
137773515
G
T
ENST00000432161
ENSG00000122787
137687070
137802732
ENSP00000389197
AKR1D1
1
AK1D1_HUMAN
-
-
+1bp 5'_splice_site
rs201988060
-
T=1/G=8599;T=1/G=4405;T=2/G=13004
lod=63:412
-
-
-
het
3
11
7
137776590
A
T
ENST00000242375
ENSG00000122787
137687070
137802732
ENSP00000242375
AKR1D1
1
AK1D1_HUMAN
c.338A>T
p.Y113F
non-syn
NA
-
-
lod=93:454
DAMAGING
P
-
hom
1
12
7
137776590
A
T
ENST00000411726
ENSG00000122787
137687070
137802732
ENSP00000402374
AKR1D1
1
AK1D1_HUMAN
c.338A>T
p.Y113F
non-syn
NA
-
-
lod=93:454
DAMAGING
P
-
hom
1
13
7
137776590
A
T
ENST00000432161
ENSG00000122787
137687070
137802732
ENSP00000389197
AKR1D1
1
AK1D1_HUMAN
c.338A>T
p.Y113F
non-syn
NA
-
-
lod=93:454
DAMAGING
P
-
hom
1
14
7
137776590
A
T
ENST00000438242
ENSG00000122787
137687070
137802732
ENSP00000397042
AKR1D1
1
-
c.170A>T
p.Y57F
non-syn
NA
-
-
lod=93:454
DAMAGING
P
-
hom
1
15
7
137776590
A
T
ENST00000468877
ENSG00000122787
137687070
137802732
-
AKR1D1
1
-
c.248A>T
p.Y83F
non-syn
NA
-
-
lod=93:454
DAMAGING
P
-
hom
1
16
7
137776590
A
T
ENST00000470851
ENSG00000122787
137687070
137802732
-
AKR1D1
1
-
c.2A>T
p.Y1F
non-syn
NA
-
-
lod=93:454
DAMAGING
P
-
hom
1
17
7
137776597
T
C
ENST00000242375
ENSG00000122787
137687070
137802732
ENSP00000242375
AKR1D1
1
AK1D1_HUMAN
c.345T>C
p.D115D
syn
rs146747335
-
C=1/T=8599;C=0/T=4406;C=1/T=13005
lod=93:454
-
-
-
het
1
18
7
137776597
T
C
ENST00000411726
ENSG00000122787
137687070
137802732
ENSP00000402374
AKR1D1
1
AK1D1_HUMAN
c.345T>C
p.D115D
syn
rs146747335
-
C=1/T=8599;C=0/T=4406;C=1/T=13005
lod=93:454
-
-
-
het
1
19
7
137776597
T
C
ENST00000432161
ENSG00000122787
137687070
137802732
ENSP00000389197
AKR1D1
1
AK1D1_HUMAN
c.345T>C
p.D115D
syn
rs146747335
-
C=1/T=8599;C=0/T=4406;C=1/T=13005
lod=93:454
-
-
-
het
1
20
7
137776597
T
C
ENST00000438242
ENSG00000122787
137687070
137802732
ENSP00000397042
AKR1D1
1
-
c.177T>C
p.D59D
syn
rs146747335
-
C=1/T=8599;C=0/T=4406;C=1/T=13005
lod=93:454
-
-
-
het
1
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