UCSF Pharmacogenetics of Membrane Transporters
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Common Name:TAPL
HGNC Symbol:ABCB9
HGNC Description:ATP-binding cassette, sub-family B (MDR/TAP), member 9
HGNC ID:50
Chromosome:Chr.12(-): 121979492-122025705
Location:12q24
OMIM:605453
OMIM Phenotype:None
Accessions:AB112582,AF216494,AK074738,BC064384
Nucleotide RefSeq:NM_019625
Protein RefSeq:NP_062571
Entrez:23457
Isoforms:3
Evidence:None
Tissues:High in testes. Moderate in brain and spinal cord
Type:protein coding
Sets:0
PharmGKB ID:PA24391
HPRD ID:09262
Substrates:None
Trivial Names:TAPL, KIAA1520, EST122234
Transcripts:NM_019624 [Chr.12(-): 121979492-122017009]
NM_019625 [Chr.12(-): 121979492-122017009]
NM_203444 [Chr.12(-): 121979492-122025705]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCB9 Resequencing
[Your browser is not displaying the SVG image of experimental data in gene context.]
Study Name:ABCB9 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
 
4226
PDE
rs72559425
 122017327-318-6592
CAGCTTTTTAACTGGCCTTTTTCCC T → A GGAGGGACAGCCAGCCAGTCCAGGA
+ 
 
n=
T/T=
T/A=
A/A=
A=
130
65
0
0
0.000
128
64
0
0
0.000
134
66
1
0
0.007
128
64
0
0
0.000
PMT-272
 
4225
PDE
rs72559424
 122017326-317-6591
CCAGCTTTTTAACTGGCCTTTTTCC C → - TGGAGGGACAGCCAGCCAGTCCAGG
+ 
 
n=
C/C=
C/-=
-/-=
-=
130
64
1
0
0.008
128
64
0
0
0.000
134
67
0
0
0.000
128
64
0
0
0.000
PMT-272
Promoter
4224
 122017088-79-6353
GGGCCTCAGGAGGAGTGGGCGGGCT T → C TCCTGGACGGGGCGGGGCCCCCGAG
+ 
 
n=
T/T=
T/C=
C/C=
C=
130
40
24
1
0.200
128
64
0
0
0.000
134
67
0
0
0.000
128
62
2
0
0.016
PMT-272
Exon: 5UTR
Promoter
4223
PDE
rs61955196
 12201697139-6236
AAGGTCGGAGCTGAGACTGGCGTGC C → G TTGAGACAGGCTGATGGACGGGGCG
+ 
 
n=
C/C=
C/G=
G/G=
G=
130
3
13
49
0.854
126
25
28
10
0.381
132
36
26
4
0.258
128
18
38
8
0.422
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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