UCSF Pharmacogenetics of Membrane Transporters
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Common Name:None
HGNC Symbol:AQP4
HGNC Description:None
HGNC ID:637
Chromosome:Chr.18(-): 22686005-22699714
Location:18q11.2-q12.1
OMIM:600308
OMIM Phenotype:None
Accessions:None
Nucleotide RefSeq:NM_001650
Protein RefSeq:NP_001641
Entrez:361
Isoforms:2
Evidence:None
Tissues:None
Type:protein coding
Sets:None
PharmGKB ID:PA24922
HPRD ID:02631
Substrates:None
Trivial Names:MIWC, HMIWC2, MGC22454
Transcripts:NM_001650 [Chr.18(-): 22686005-22699714]
NM_004028 [Chr.18(-): 22686005-22696573]
View on UCSC Genome Browser or Ensembl Genome Browser
AQP4 Resequencing
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Study Name:AQP4 Resequencing
Experiments:
SNP impact: P - Public  D - Discovered  E - Exclusive  (dbSNP build 130)
SNP array availability: I - found on Illumina Human1M-Duo BeadChip  A - found on Affymetrix Genome-Wide SNP Array 6.0  
FeaturePMT SNP IDdbSNP/ PubMedSNP Array AvailabilityGenomic PositionTranscript PositionCoding PositionNucleotide ChangeStrand, '+' or '-'Amino Acid PositionAmino Acid ChangeStatisticsAA FreqCA FreqAS FreqME FreqSample Set
Promoter
3129
PDE
rs162007
A22699845-131-194
TAAATGTTTTTGCATTCCTGAAATG C → T CCTGTGTCTACAGTGATCAGGTACA
- 
 
n=
C/C=
C/T=
T/T=
T=
94
41
5
1
0.074
82
26
15
0
0.183
94
22
15
10
0.372
94
32
14
1
0.170
D76SampleSet
Exon: 5UTR
Promoter
3130
PDE
rs72557966
 2269969322-42
ATCTGACTCCCAGCACACAGGGAGC T → C GCGGGGCAGGCAATGAGAGCTGCAC
- 
 
n=
T/T=
T/C=
C/C=
C=
94
45
2
0
0.021
82
41
0
0
0.000
94
47
0
0
0.000
94
47
0
0
0.000
D76SampleSet
Exon: 5UTR
Promoter
3131
PDE
rs162008
 2269969025-39
TGACTCCCAGCACACAGGGAGCTGC G → A GGGCAGGCAATGAGAGCTGCACTCT
- 
 
n=
G/G=
G/A=
A/A=
A=
94
41
5
1
0.074
82
26
15
0
0.183
94
22
15
10
0.372
94
33
13
1
0.160
D76SampleSet
 
3216
PDE
rs72557967
 22696578  
ACCTGGGTGTAGTGGCTTCTGATGC T → C GATTTGTTTCTCTTTTCAGTAAGTG
- 
 
n=
T/T=
T/C=
C/C=
C=
94
46
1
0
0.011
74
37
0
0
0.000
94
47
0
0
0.000
86
43
0
0
0.000
D76SampleSet
Exon: Coding
3217
PDE
rs35248760
 22696390264201
GGGGTGGAACAGAAAAGCCTTTACC G → T GTCGACATGGTTCTCATCTCCCTTT
-67
Pro = Pro
n=
G/G=
G/T=
T/T=
T=
94
45
2
0
0.021
74
27
9
1
0.149
94
47
0
0
0.000
86
40
3
0
0.035
D76SampleSet
Exon: Coding
3218
PDE
rs72557968
 22696225429366
AGTCTGTCTTCTACATCGCAGCCCA G → A TGCCTGGGGGCCATCATTGGAGCAG
-122
Gln = Gln
n=
G/G=
G/A=
A/A=
A=
94
45
2
0
0.021
74
33
4
0
0.054
94
47
0
0
0.000
86
42
1
0
0.012
D76SampleSet
Exon: Coding
3219
PDE
rs61731042
1 pub		 22696208446383
GCAGCCCAGTGCCTGGGGGCCATCA T → C TGGAGCAGGAATCCTCTATCTGGTC
-128
Ile → Thr
n=
T/T=
T/C=
C/C=
C=
94
46
1
0
0.011
74
37
0
0
0.000
94
47
0
0
0.000
86
42
1
0
0.012
D76SampleSet
 
3220
PDE
rs72557969
 22696128  
AGTCACCATGGTAGCATCTTTAGCT A → G TTTTCAAACTAGGACTCCAAGCTTC
- 
 
n=
A/A=
A/G=
G/G=
G=
94
45
2
0
0.021
74
37
0
0
0.000
94
47
0
0
0.000
86
43
0
0
0.000
D76SampleSet
 
3221
PDE
rs72557970
 22696105  
CTATTTTCAAACTAGGACTCCAAGC T → C TCTTGCAAACTCTTTGCTAAATAAT
- 
 
n=
T/T=
T/C=
C/C=
C=
94
46
1
0
0.011
74
37
0
0
0.000
94
47
0
0
0.000
86
42
1
0
0.012
D76SampleSet
 
3222
PDE
rs455671
 22696054  
GCCTTGGTGGCATGAGGCACATCCC T → C AAAATAGCTAATTTACTCCTAGGGA
- 
 
n=
T/T=
T/C=
C/C=
C=
94
43
4
0
0.043
74
23
14
0
0.189
94
21
16
10
0.383
86
31
11
1
0.151
D76SampleSet
Exon: Coding
3139
PDE
rs1839318
 22695213555492
CTGGTCATGGTCTCCTGGTTGAGTT G → A ATAATCACATTTCAATTGGTGTTTA
-164
Leu = Leu
n=
G/G=
G/A=
A/A=
A=
94
43
4
0
0.043
84
38
3
1
0.060
94
47
0
0
0.000
88
42
2
0
0.023
D76SampleSet
Exon: Coding
3140
PDE
rs61731038
1 pub		 22695153615552
CCAGCTGTGATTCCAAACGGACTGA T → A GTCACTGGCTCAATAGCTTTAGCAA
-184
Asp → Glu
n=
T/T=
T/A=
A/A=
A=
94
45
2
0
0.021
84
42
0
0
0.000
94
47
0
0
0.000
88
43
1
0
0.011
D76SampleSet
 
3141
PDE
rs72557973
 22694882  
TCTAAGTGACAAATGACAGCAAATT G → A CAATGAATGATACTTGCTAGTAGCC
- 
 
n=
G/G=
G/A=
A/A=
A=
94
40
7
0
0.074
88
44
0
0
0.000
92
46
0
0
0.000
94
47
0
0
0.000
D76SampleSet
Exon: Coding
3142
PDE
rs72557974
1 pub		 22694814676613
GAAGTTGTTTTCTTGTTTCCTATAG A → C TCAATTATACTGGTGCCAGCATGAA
-205
Ile → Leu
n=
A/A=
A/C=
C/C=
C=
94
46
1
0
0.011
88
44
0
0
0.000
92
46
0
0
0.000
94
45
2
0
0.021
D76SampleSet
Exon: Coding
3143
PDE
rs72557975
1 pub		 22694756734671
CGATCCTTTGGACCTGCAGTTATCA T → C GGGAAATTGGGAAAACCATTGGGTA
-224
Met → Thr
n=
T/T=
T/C=
C/C=
C=
94
47
0
0
0.000
88
43
1
0
0.011
92
46
0
0
0.000
94
46
1
0
0.011
D76SampleSet
Exon: Coding
3144
PDE
rs72557976
 22694737753690
TTATCATGGGAAATTGGGAAAACCA T → C TGGGTAACCCTCATATTGATAGTTC
-230
His = His
n=
T/T=
T/C=
C/C=
C=
94
47
0
0
0.000
88
43
1
0
0.011
92
46
0
0
0.000
94
47
0
0
0.000
D76SampleSet
 
3145
rs68006382
 22690517  
AATTTAACCCAGCTAGATTCTACAT T → C CATGAGCTGCTCAATGGAATAGCTT
- 
 
n=
T/T=
T/C=
C/C=
C=
94
37
10
0
0.106
76
24
11
3
0.224
92
18
17
11
0.424
84
18
16
8
0.381
D76SampleSet
 
3146
PDE
rs72557971
 22690502  
GATTCTACATTCATGAGCTGCTCAA T → A GGAATAGCTTTTCTCTACTTACACT
- 
 
n=
T/T=
T/A=
A/A=
A=
94
46
1
0
0.011
76
38
0
0
0.000
92
46
0
0
0.000
84
42
0
0
0.000
D76SampleSet
Exon: Coding
3147
PDE
rs72557972
 22690326882819
CCTTCAGCAAAGCTGCCCAGCAAAC A → G AAAGGAAGCTACATGGAGGTGGAGG
-273
Thr = Thr
n=
A/A=
A/G=
G/G=
G=
94
46
1
0
0.011
76
38
0
0
0.000
92
46
0
0
0.000
84
42
0
0
0.000
D76SampleSet
Exon: 3UTR
3148
PDE
rs72557977
 226899531255 
ATCTAAAAAAAGAAATATTTTTAAA A → C TGTTCTTAAGCAAATATATACCTAT
- 
 
n=
A/A=
A/C=
C/C=
C=
92
46
0
0
0.000
82
40
0
1
0.024
94
47
0
0
0.000
94
47
0
0
0.000
D76SampleSet
Exon: 3UTR
3149
PDE
rs9807747
 226899281280 
ATGTTCTTAAGCAAATATATACCTA T → C TTTATCTAGTTACCTTTCATTAACA
- 
 
n=
T/T=
T/C=
C/C=
C=
92
42
4
0
0.043
82
41
0
0
0.000
94
47
0
0
0.000
94
47
0
0
0.000
D76SampleSet
Exon: 3UTR
3150
PDE
rs72557978
 226898901318 
CCTTTCATTAACAACCAATTTTAAC C → T GTGTGTCAAGATTTGGTTAAGTCTT
- 
 
n=
C/C=
C/T=
T/T=
T=
92
30
14
2
0.196
82
41
0
0
0.000
94
47
0
0
0.000
94
47
0
0
0.000
D76SampleSet
Exon: 3UTR
3151
PDE
rs72557979
 226898691339 
TAACCGTGTGTCAAGATTTGGTTAA G → C TCTTGCCTGACAGAACTCAAAGACA
- 
 
n=
G/G=
G/C=
C/C=
C=
92
44
2
0
0.022
82
41
0
0
0.000
94
47
0
0
0.000
94
46
1
0
0.011
D76SampleSet
Exon: 3UTR
3152
PDE
rs3763043
I226898161392 
TCTATCAGCTTATTCCTTCTCTACT G → A GAATATTGGTATAGTCAATTCTTAT
- 
 
n=
G/G=
G/A=
A/A=
A=
92
27
16
3
0.239
82
23
10
8
0.317
94
18
19
10
0.415
94
15
20
12
0.468
D76SampleSet

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.
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