histidine triad nucleotide binding protein 1 [Source:HGNC Symbol;Acc:4912]
5
130494720
130507428
-1
q23.3
130494720
130501178
HINT1
HINT1-001
HGNC Symbol
HGNC transcript name
10
43.5
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
3094
4912
HINT1
NM_005340
27527
MSeqDR Master Exome Data Set M1: 142 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
5
130494778
T
G
ENST00000304043
ENSG00000169567
130494720
130507428
ENSP00000304229
HINT1
-1
HINT1_HUMAN
-
-
3'_UTR
rs7715067
0.1795
-
-
-
-
-
het
29
2
5
130494950
A
G
ENST00000304043
ENSG00000169567
130494720
130507428
ENSP00000304229
HINT1
-1
HINT1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
3
5
130495237
C
T
ENST00000304043
ENSG00000169567
130494720
130507428
ENSP00000304229
HINT1
-1
HINT1_HUMAN
c.284G>A
p.R95Q
non-syn
NA
-
T=1/C=8599;T=0/C=4406;T=1/C=13005
lod=408:612
DAMAGING
D
-
het
1
4
5
130495237
C
T
ENST00000506207
ENSG00000169567
130494720
130507428
-
HINT1
-1
-
c.303G>A
p.S101S
syn
NA
-
T=1/C=8599;T=0/C=4406;T=1/C=13005
lod=408:612
DAMAGING
D
-
het
1
5
5
130495237
C
T
ENST00000508495
ENSG00000169567
130494720
130507428
ENSP00000424974
HINT1
-1
-
-
-
3'_UTR
NA
-
T=1/C=8599;T=0/C=4406;T=1/C=13005
lod=408:612
DAMAGING
D
-
het
1
6
5
130495237
C
T
ENST00000511475
ENSG00000169567
130494720
130507428
ENSP00000427008
HINT1
-1
-
-
-
3'_UTR
NA
-
T=1/C=8599;T=0/C=4406;T=1/C=13005
lod=408:612
DAMAGING
D
-
het
1
7
5
130495237
C
T
ENST00000513345
ENSG00000169567
130494720
130507428
ENSP00000421608
HINT1
-1
-
-
-
3'_UTR
NA
-
T=1/C=8599;T=0/C=4406;T=1/C=13005
lod=408:612
DAMAGING
D
-
het
1
8
5
130496569
T
G
ENST00000504202
ENSG00000169567
130494720
130507428
ENSP00000425260
HINT1
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
4
9
5
130496569
T
G
ENST00000511475
ENSG00000169567
130494720
130507428
ENSP00000427008
HINT1
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
4
10
5
130496595
G
A
ENST00000504202
ENSG00000169567
130494720
130507428
ENSP00000425260
HINT1
-1
-
-
-
-18bp 3'_splice_site
rs115428931
0.0279
-
-
-
-
-
het
2
11
5
130496595
G
A
ENST00000511475
ENSG00000169567
130494720
130507428
ENSP00000427008
HINT1
-1
-
-
-
-18bp 3'_splice_site
rs115428931
0.0279
-
-
-
-
-
het
2
12
5
130497819
C
-TA
ENST00000508488
ENSG00000169567
130494720
130507428
ENSP00000427499
HINT1
-1
-
-
-
3'_UTR
rs199790704
-
-
-
-
-
-
het
1
13
5
130497872
C
A
ENST00000508488
ENSG00000169567
130494720
130507428
ENSP00000427499
HINT1
-1
-
-
-
3'_UTR
rs10079664
-
-
-
-
-
-
het
1
14
5
130497890
G
A
ENST00000508488
ENSG00000169567
130494720
130507428
ENSP00000427499
HINT1
-1
-
-
-
3'_UTR
rs187508526
0.0016
-
-
-
-
-
het
2
15
5
130497896
T
A
ENST00000508488
ENSG00000169567
130494720
130507428
ENSP00000427499
HINT1
-1
-
-
-
3'_UTR
rs3864284
0.1421
-
-
-
-
-
hom
3
16
5
130497896
T
A
ENST00000508488
ENSG00000169567
130494720
130507428
ENSP00000427499
HINT1
-1
-
-
-
3'_UTR
rs3864284
0.1421
-
-
-
-
-
het
20
17
5
130497902
A
C
ENST00000508488
ENSG00000169567
130494720
130507428
ENSP00000427499
HINT1
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
18
5
130497902
A
G
ENST00000508488
ENSG00000169567
130494720
130507428
ENSP00000427499
HINT1
-1
-
-
-
3'_UTR
rs3864285
0.1314
-
-
-
-
-
het
23
19
5
130497902
A
G
ENST00000508488
ENSG00000169567
130494720
130507428
ENSP00000427499
HINT1
-1
-
-
-
3'_UTR
rs3864285
0.1314
-
-
-
-
-
hom
3
20
5
130497917
G
A
ENST00000508488
ENSG00000169567
130494720
130507428
ENSP00000427499
HINT1
-1
-
-
-
3'_UTR
rs4644002
0.1742
-
-
-
-
-
het
26
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