UCSF Pharmacogenetics of Membrane Transporters
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Common Name:ABCF3
HGNC Symbol:ABCF3
HGNC Description:ATP-binding cassette, sub-family F (GCN20), member 3
HGNC ID:72
Chromosome:Chr.3(+): 185386557-185394489
Location:3q27.1
OMIM:
OMIM Phenotype:None
Accessions:AK002060
Nucleotide RefSeq:NM_018358
Protein RefSeq:NP_060828
Entrez:55324
Isoforms:1
Evidence:Tissue Distribution Evidence: Lung, Adrenal Gland > Prostate > Placenta, Trachea, Testis, Spleen, Uterus - TaqMan RT-PCR. Langmann T, et al. Clinical Chemistry. 2003; 49: 230-8.
Tissues:Lung, Adrenal Gland > Prostate > Placenta, Trachea, Testis, Spleen, Uterus
Type:protein coding
Sets:0
PharmGKB ID:PA24407
HPRD ID:12404
Substrates:No data
Trivial Names:FLJ11198, EST201864
Transcripts:NM_018358 [Chr.3(+): 185386557-185394489]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCF3 Resequencing
[Your browser is not displaying the SVG image of experimental data in gene context.]
Study Name:ABCF3 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
4227
PDE
rs72542417
 185386354-203-336
CTCCCACCCGCCAGACCACGGGTGC C → G TCGCGGCCCCGATAAACCTTGAGCT
+ 
 
n=
C/C=
C/G=
G/G=
G=
130
60
3
2
0.054
130
65
0
0
0.000
130
65
0
0
0.000
130
64
1
0
0.008
PMT-272
Promoter
4228
PDE
rs72542418
 185386493-64-197
AGGTGTCGCGCACGCGCAGAGAGCG C → T GGCTCCGGCGCAGACTCGGCGCCTC
+ 
 
n=
C/C=
C/T=
T/T=
T=
130
65
0
0
0.000
132
66
0
0
0.000
136
65
1
2
0.037
132
66
0
0
0.000
PMT-272
Exon: 5UTR
4229
PDE
rs60293594
 18538663175-59
AGGGCGAGATTTCGGGGGCAGGGCG G → GC GGGGCGGGCCTAGGCCGGGGTCTCA
+ 
 
n=
G/G=
G/GC=
GC/GC=
GC=
130
60
2
3
0.062
130
49
6
10
0.200
134
67
0
0
0.000
128
52
5
7
0.148
PMT-272
Exon: 5UTR
4230
PDE
rs16833781
 18538663579-55
CGAGATTTCGGGGGCAGGGCGGGGG G → GG CGGGCCTAGGCCGGGGTCTCACAGC
+ 
 
n=
G/G=
G/GG=
GG/GG=
GG=
130
52
4
9
0.169
130
59
0
6
0.092
134
37
0
30
0.448
128
55
0
9
0.141
PMT-272
Exon: 5UTR
4231
PDE
rs72542419
 185386679123-11
TCACAGCGACTGCGCGGACGGGTTC C → T TGAGTGGAACATGGCGACTTGCGCC
+ 
 
n=
C/C=
C/T=
T/T=
T=
120
60
0
0
0.000
118
59
0
0
0.000
132
65
0
1
0.015
118
59
0
0
0.000
PMT-272
Exon: Coding
4232
PDE
rs72542420
 18538672516936
GCGCCGAAATCCTGCGGAGCGAGTT C → T CCCGAAATTGACGGACAAGTCTTCG
+12
Phe = Phe
n=
C/C=
C/T=
T/T=
T=
118
58
0
1
0.017
116
58
0
0
0.000
132
66
0
0
0.000
118
59
0
0
0.000
PMT-272

Transmembrane prediction: TOPO2 image is not available.
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