UCSF Pharmacogenetics of Membrane Transporters
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Common Name:WHITE2
HGNC Symbol:ABCG4
HGNC Description:ATP-binding cassette, sub-family G (WHITE), member 4
HGNC ID:13884
Chromosome:Chr.11(+): 118524960-118538585
Location:11q23.3
OMIM:607784
OMIM Phenotype:None
Accessions:BC041091
Nucleotide RefSeq:NM_022169
Protein RefSeq:NP_071452
Entrez:64137
Isoforms:1
Evidence:None
Tissues:None
Type:protein coding
Sets:0
PharmGKB ID:PA24410
HPRD ID:12130
Substrates:None
Trivial Names:WHITE2
Transcripts:NM_022169 [Chr.11(+): 118524960-118538585]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCG4 Resequencing
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Study Name:ABCG4 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
 
5132
PDE
rs55752358
 118524685-275-1201
GGACTGGTATCGTGTGTGAAGACAG A → T CTGACACCTTTACAATCCCTCCACT
+ 
 
n=
A/A=
A/T=
T/T=
T=
130
59
6
0
0.046
134
63
4
0
0.030
116
44
12
2
0.138
128
60
4
0
0.031
PMT-272
Promoter
5133
PDE
rs4301800
I118524730-230-1156
TCCACTTTCCCCCACCCCCAACACC C → A TTGCCTAATCTGTCTTCCAGGGACT
+ 
 
n=
C/C=
C/A=
A/A=
A=
130
51
5
9
0.177
134
52
1
14
0.216
118
8
0
51
0.864
128
59
0
5
0.078
PMT-272
Promoter
5134
PDE
rs72542421
 118524843-117-1043
CAACCCCCAGTCCTGAGTTCACCCC T → G GCACCTCCTCCGGCCCCCGCGCCGC
+ 
 
n=
T/T=
T/G=
G/G=
G=
130
65
0
0
0.000
134
67
0
0
0.000
118
59
0
0
0.000
128
63
1
0
0.008
PMT-272
Promoter
5135
PDE
rs72542422
 118524857-103-1029
GAGTTCACCCCTGCACCTCCTCCGG C → T CCCCGCGCCGCAAGCGCTGCTCTCT
+ 
 
n=
C/C=
C/T=
T/T=
T=
132
65
1
0
0.008
134
67
0
0
0.000
118
59
0
0
0.000
128
64
0
0
0.000
PMT-272
Promoter
5136
PDE
rs72542423
 118524898-62-988
GCTGCTCTCTCCTTTGCCGTCCTCG C → CC CCCCCGCGGGCTGCCGGGCGGCGCG
+ 
 
n=
C/C=
C/CC=
CC/CC=
CC=
132
64
2
0
0.015
134
67
0
0
0.000
118
59
0
0
0.000
128
64
0
0
0.000
PMT-272
Promoter
Exon: 5UTR
5137
PDE
rs72542424
 11852499233-894
AGAGCGCAGTCGCCCCGCGGGCTCG G → A AGGACACAGCGTCCGGGACCAGGCT
+ 
 
n=
G/G=
G/A=
A/A=
A=
130
65
0
0
0.000
126
63
0
0
0.000
112
50
6
0
0.054
128
64
0
0
0.000
PMT-272

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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