UCSF Pharmacogenetics of Membrane Transporters
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Common Name:FIC1
HGNC Symbol:ATP8B1
HGNC Description:ATPase, Class I, type 8B, member 1
HGNC ID:3706
Chromosome:Chr.18(-): 53464656-53550037
Location:18q21-q22
OMIM:602397
OMIM Phenotype:Cholestasis, benign recurrent intrahepatic; Cholestasis, progressive familial intrahepatic-1; Byler disease
Accessions:AF038007
Nucleotide RefSeq:NM_005603
Protein RefSeq:NP_005594
Entrez:5205
Isoforms:1
Evidence:None
Tissues:None
Type:protein coding
Sets:I
PharmGKB ID:PA265
HPRD ID:03867
Substrates:None
Trivial Names:BRIC, FIC1, PFIC, ATPIC, PFIC1
Transcripts:NM_005603 [Chr.18(-): 53464656-53550037]
View on UCSC Genome Browser or Ensembl Genome Browser
ATP8B1 Resequencing
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Study Name:ATP8B1 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 FreqPA FreqSample Set
Promoter
3382
PDE
rs35671095
 53550068-31-31
TAATTCACTCTGGTTTCTCTTTCCT T → C TTAAGCAGGTAGTTCCAATTTGCCA
- 
 
n=
T/T=
T/C=
C/C=
C=
200
97
3
0
0.015
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Promoter
3383
PDE
rs35130227
 53550043-6-6
TTTAAGCAGGTAGTTCCAATTTGCC A → C GCAGAATGAGTACAGAAAGAGACTC
- 
 
n=
A/A=
A/C=
C/C=
C=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3384
PDE
rs34489428
 53549827  
CCACATGAAGTCCCGGTGACTAGGT C → T GCTTATAAATCCTCATGTGGGTCAT
- 
 
n=
C/C=
C/T=
T/T=
T=
200
98
2
0
0.010
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3623
 53524822  
CTTACGAACTTTTCTCCCTTTTTTT T → TT AAAGAATGTACATGGCAAGTCAAAG
- 
 
n=
T/T=
T/TT=
TT/TT=
TT=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3386
PDE
rs35377845
 53524810189189
TCTCCCTTTTTTTTAAAGAATGTAC A → G TGGCAAGTCAAAGCAAACGATCGCA
-63
Thr = Thr
n=
A/A=
A/G=
G/G=
G=
200
98
2
0
0.010
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3387
PDE
rs34719006
2 pubs		 53524791208208
ATGTACATGGCAAGTCAAAGCAAAC G → A ATCGCAAGTACCACGAACAACCTCA
-70
Asp → Asn
n=
G/G=
G/A=
A/A=
A=
200
99
1
0
0.005
200
98
2
0
0.010
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3388
PDE
rs3745079
A53524765234234
ATCGCAAGTACCACGAACAACCTCA C → G TTTATGAACACAAAATTCTTGTGTA
-78
His → Gln
n=
C/C=
C/G=
G/G=
G=
200
100
0
0
0.000
200
100
0
0
0.000
60
27
3
0
0.050
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3389
PDE
rs34623939
 53524753246246
ACGAACAACCTCACTTTATGAACAC A → G AAATTCTTGTGTATTAAGGAGAGTA
-82
Thr = Thr
n=
A/A=
A/G=
G/G=
G=
200
100
0
0
0.000
200
99
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3390
PDE
rs36111511
 53519571  
GTAAGCTTGATATGCCTTCATGGAC A → C CACACATAAGCCCTTTTATTCTTTT
- 
 
n=
A/A=
A/C=
C/C=
C=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3391
PDE
rs34988227
 53519549  
GACACACACATAAGCCCTTTTATTC T → C TTTAGGCAGTTCCTCAAATCTCTAC
- 
 
n=
T/T=
T/C=
C/C=
C=
200
100
0
0
0.000
200
99
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3392
PDE
rs319439
I53515828  
GGACGGGTAAGTGTGTCTCGATGGG C → T CTGATTTAAAGCTGGCCTTTGAAGG
- 
 
n=
C/C=
C/T=
T/T=
T=
198
42
49
8
0.328
190
27
46
22
0.474
60
3
9
18
0.750
20
4
4
2
0.400
14
1
2
4
0.714
Set-I
Exon: Coding
3393
PDE
rs34221682
 53513690771771
ACCTCCAAAGAGAAGATACATTGGC T → C ACATTTGATGGTTTGTACCAAACAT
-257
Ala = Ala
n=
T/T=
T/C=
C/C=
C=
200
100
0
0
0.000
200
99
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3394
PDE
rs319443
I53513530811811
TATTGAATGTGAAGAACCCAATAAC C → A GACTAGATAAGTTTACAGGAACACT
-271
Arg = Arg
n=
C/C=
C/A=
A/A=
A=
200
99
0
1
0.010
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3395
PDE
rs319444
 53512776  
TTCATCTCAGTAGATCTCTCATCTA G → A ATTGCTGTCTTTTGCACTAATATTA
- 
 
n=
G/G=
G/A=
A/A=
A=
200
100
0
0
0.000
200
97
3
0
0.015
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3396
PDE
rs35969033
 5351015611011101
ATGCTTATTGGGAAGCACAGGTGGG C → A AATTCCTCTTGGTACCTCTATGATG
-367
Gly = Gly
n=
C/C=
C/A=
A/A=
A=
200
100
0
0
0.000
200
99
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3397
PDE
rs34315917
 5351008011771177
TGGATTCCTCATTTTCTGGGGCTAT A → G TCATTGTTCTCAACACCATGGTACC
-393
Ile → Val
n=
A/A=
A/G=
G/G=
G=
200
99
1
0
0.005
200
98
2
0
0.010
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3398
PDE
rs34018205
 5350667212861286
TGGGACCTGCAAATGTACTATGCTG A → C GAAGGACACACCCGCAAAAGCTAGA
-429
Glu → Ala
n=
A/A=
A/C=
C/C=
C=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3399
PDE
rs34187170
 53503286  
CAAAATAGAGGTAAGACCTTTAAGC C → T GAAGAATCGTTTGGGATGCTGGGGA
- 
 
n=
C/C=
C/T=
T/T=
T=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3400
PDE
rs36099370
 53493289  
CAACAATGAGCTCTGCATTTGTTTT T → C ACAGCTTTTCTGGGATTTCTCTCGC
- 
 
n=
T/T=
T/C=
C/C=
C=
200
100
0
0
0.000
200
96
4
0
0.020
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3401
PDE
rs35140429
 5349317217111711
CAGGAACTTTGGCTTTGCCTTCCTC G → A CCAGGACCCAGAACACCATCACCAT
-571
Ala → Thr
n=
G/G=
G/A=
A/A=
A=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3402
PDE
rs3745078
I5349315417291729
CTTCCTCGCCAGGACCCAGAACACC A → G TCACCATCAGTGAACTGGGCACTGA
-577
Ile → Val
n=
A/A=
A/G=
G/G=
G=
200
100
0
0
0.000
200
100
0
0
0.000
60
28
2
0
0.033
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3403
PDE
rs33963153
 5349314417391739
AGGACCCAGAACACCATCACCATCA G → A TGAACTGGGCACTGAAAGGACTTAC
-580
Ser → Asn
n=
G/G=
G/A=
A/A=
A=
200
91
7
2
0.055
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3404
PDE
rs35238397
 5349312917541754
ATCACCATCAGTGAACTGGGCACTG A → G AAGGACTTACAATGTTCTTGCCATT
-585
Glu → Gly
n=
A/A=
A/G=
G/G=
G=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3405
PDE
rs35718397
 53489864  
CAGAGCAAGACCCTGTCTCAAAAAA T → A ATATATATAAAAAATCAAACTTTGT
- 
 
n=
T/T=
T/A=
A/A=
A=
200
85
12
3
0.090
198
64
30
5
0.202
60
29
1
0
0.017
20
5
5
0
0.250
14
7
0
0
0.000
Set-I
Exon: Coding
3406
PDE
rs35470719
 5348762420212021
TTTACAGAATGGAATAAAAAGTTTA T → C GGCTGCCAGTGTGGCCTCCACCAAC
-674
Met → Thr
n=
T/T=
T/C=
C/C=
C=
200
100
0
0
0.000
200
100
0
0
0.000
60
27
3
0
0.050
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3407
 53486606  
TGTTAATTCACAAATATTTATAGCT G → C CCGTTTCCTTTGCCCAAGATGACCT
- 
 
n=
G/G=
G/C=
C/C=
C=
192
0
0
96
1.000
196
0
0
98
1.000
60
0
0
30
1.000
20
0
0
10
1.000
14
0
0
7
1.000
Set-I
 
3408
PDE
rs35465334
 53485467  
CTAGGCAGTGGGAGTGAGATGCTGT C → A TCAAAAAACAAAATAAAATAAAATA
- 
 
n=
C/C=
C/A=
A/A=
A=
186
91
2
0
0.011
194
97
0
0
0.000
54
27
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3624
 53485440  
CAAAAAACAAAATAAAATAAAATAA A → AATAAA AACAGCAGGAATGACATTTGACTTA
- 
 
n=
A/A=
A/AATAAA=
AATAAA/AATAAA=
AATAAA=
196
74
20
4
0.143
198
85
12
2
0.081
54
26
1
0
0.019
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
 
3410
PDE
rs4306606
IA53485293  
AGTAAAAGCCTGCAGTATGAAATTA C → T GTAATAGCTCATCTTTGCAAATGCA
- 
 
n=
C/C=
C/T=
T/T=
T=
154
58
17
2
0.136
166
41
35
7
0.295
54
25
2
0
0.037
18
4
5
0
0.278
14
6
1
0
0.071
Set-I
 
3411
PDE
rs35916832
 53485290  
AAAAGCCTGCAGTATGAAATTACGT A → G ATAGCTCATCTTTGCAAATGCAAGA
- 
 
n=
A/A=
A/G=
G/G=
G=
154
77
0
0
0.000
166
82
1
0
0.006
54
27
0
0
0.000
18
9
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3412
PDE
rs34597611
 5348079923322332
GGAAAACCAGAGGAATAGAGGTGGC G → A TCTACGCAAAGTTTGCACCTCCTGT
-778
Val → Ile
n=
G/G=
G/A=
A/A=
A=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3413
PDE
rs33965008
 5348077323582358
TCTACGCAAAGTTTGCACCTCCTGT G → A CAGGAATCTTTTTTTCCACCCGGTG
-786
Val = Val
n=
G/G=
G/A=
A/A=
A=
200
98
2
0
0.010
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3414
PDE
rs34018300
 5347966924422442
AGAATGAAATTCTTCTCGAGAAAAA G → T ACCAAGAGAAATAAGATTCTGAAGC
-814
Lys → Asn
n=
G/G=
G/T=
T/T=
T=
200
97
3
0
0.015
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3415
PDE
rs34105567
 5347955825532553
AAGCTAAGAAAGAGCAGCGGCAGAA A → G AACTTTGTGGACCTGGCCTGCGAGT
-851
Lys = Lys
n=
A/A=
A/G=
G/G=
G=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3416
PDE
rs34681681
 5347955625552555
GCTAAGAAAGAGCAGCGGCAGAAAA A → C CTTTGTGGACCTGGCCTGCGAGTGC
-852
Asn → Thr
n=
A/A=
A/C=
C/C=
C=
200
100
0
0
0.000
200
100
0
0
0.000
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
 
3417
PDE
rs2271770
I53479370  
TGCACCCACGGCCAGTGAGGCCCAA C → T GTGCTAGAGAGGAGAAATGGCTGGA
- 
 
n=
C/C=
C/T=
T/T=
T=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3418
PDE
rs35623014
 5347356627892789
AGTGACTATTCCTTTGCTCAGTTCC G → A ATATCTGCAGAGGCTACTGCTGGTG
-930
Arg → Gln
n=
G/G=
G/A=
A/A=
A=
200
99
1
0
0.005
194
97
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3419
PDE
rs12968116
I5347350028552855
TACATAAGGATGTGCAAGTTCCTAC G → A ATACTTCTTTTACAAAAACTTTGCC
-952
Arg → Gln
n=
G/G=
G/A=
A/A=
A=
200
91
9
0
0.045
194
81
13
3
0.098
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
 
3420
PDE
rs34451179
 53473410  
TACTCTGCGCAGGTAATGTAATGTT G → A TTATTATTGTTATTTACTAAGTAGA
- 
 
n=
G/G=
G/A=
A/A=
A=
200
99
1
0
0.005
194
97
0
0
0.000
60
28
2
0
0.033
20
10
0
0
0.000
14
6
1
0
0.071
Set-I
 
3421
PDE
rs17753176
 53473365  
AGTAGAGCTCTTAAATGAATAAAAA T → A CTAGTTCTGAAAAGACAATTTATTT
- 
 
n=
T/T=
T/A=
A/A=
A=
158
64
14
1
0.101
158
46
31
2
0.222
58
29
0
0
0.000
14
3
4
0
0.286
12
5
1
0
0.083
Set-I
 
3422
PDE
rs34729241
 53470968  
GAATAAAATACCATCATTTTGTTTT C → A TCCTTAAGGATGTGAGTGACAAACT
- 
 
n=
C/C=
C/A=
A/A=
A=
200
88
10
2
0.070
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3423
PDE
rs34588995
 53470186  
AGATTTTGACATAACTTCTGTTAAG T → C AATAAAATATACAAGGTGGAATGGC
- 
 
n=
T/T=
T/C=
C/C=
C=
200
100
0
0
0.000
200
100
0
0
0.000
60
28
2
0
0.033
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3424
PDE
rs34027711
 53468589  
CCATCAGAAAGTGATAAGGTATAAA G → T AATATAGTCCTTTCCCAACTCTGTC
- 
 
n=
G/G=
G/T=
T/T=
T=
200
95
5
0
0.025
200
72
27
1
0.145
60
30
0
0
0.000
20
8
2
0
0.100
14
6
1
0
0.071
Set-I
 
3425
PDE
rs12958967
I53466957  
GGATCTTATTTTCATCCCTCCCCAT C → T TCTCCCCCTTGCAGATCCAGAAGCA
- 
 
n=
C/C=
C/T=
T/T=
T=
160
60
17
3
0.144
174
47
35
5
0.259
58
29
0
0
0.000
20
5
4
1
0.300
14
6
1
0
0.071
Set-I
Exon: Coding
3426
PDE
rs35953143
 5346677536993699
GCAGCATCCGCAAGAAGCGCTCGCC G → A CTTGATGCCATCGTGGCGGATGGCA
-1233
Pro = Pro
n=
G/G=
G/A=
A/A=
A=
160
77
2
1
0.025
166
81
1
1
0.018
54
27
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3427
PDE
rs2271771
 5346673037443744
ATGGCACCGCGGAGTACAGGCGCAC C → A GGGGACAGCTGATCCCTTACCCCCA
-1248
Thr = Thr
n=
C/C=
C/A=
A/A=
A=
160
80
0
0
0.000
166
83
0
0
0.000
54
25
2
0
0.037
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: 3UTR
3428
PDE
rs34255016
 534667073767 
ACCGGGGACAGCTGATCCCTTACCC C → T CAGGCTGGGATGCGGCCACAAAGCA
- 
 
n=
C/C=
C/T=
T/T=
T=
160
80
0
0
0.000
166
80
3
0
0.018
54
27
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I

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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