UCSF Pharmacogenetics of Membrane Transporters
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Common Name:M-ABC2
HGNC Symbol:ABCB10
HGNC Description:ATP-binding cassette, sub-family B (MDR/TAP), member 10
HGNC ID:41
Chromosome:Chr.1(-): 227718953-227761065
Location:1q42.13
OMIM:605454
OMIM Phenotype:None
Accessions:AF216833
Nucleotide RefSeq:NM_012089
Protein RefSeq:NP_036221
Entrez:23456
Isoforms:1
Evidence:Tissue Distribution Evidence: 1. Bone marrow > skeletal muscle, small intestine, thyroid, heart, brain, placenta, liver, pancreas, prostate, testis, ovary, leukocyte, stomach, spinal cord, lymph node, trachea, andrenal gland >> lung, kidney, spleen, thymus, colon - Northern Blot, Zhang F et al, FEBS, 2000: 89-94
Tissues:High: bone marrow. Intermediate: skeletal muscle, small intestine, thyroid, heart, brain, placenta, liver, pancreas, prostate, testis, ovary, leukocyte, stomach, spinal cord, lymph node, trachea, adrenal gland. Low: lung, kidney, spleen, thymus, colon.
Type:protein coding
Sets:0
PharmGKB ID:PA24385
HPRD ID:09263
Substrates:Could function as a nucleotide-gated channel for K+ uptake into mitochondria
Trivial Names:M-ABC2, MTABC2, EST20237
Transcripts:NM_012089 [Chr.1(-): 227718952-227761065]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCB10 Resequencing
[Your browser is not displaying the SVG image of experimental data in gene context.]
Study Name:ABCB10 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
 
4265
PDE
rs4148755
 227761489-424-467
GAGCTCTTTCTCACGCCGGCAGACC G → A GGCGGAGCGCGCAGACGCGACCACA
+ 
 
n=
G/G=
G/A=
A/A=
A=
72
24
10
2
0.194
78
37
0
2
0.051
94
45
0
2
0.043
84
38
1
3
0.083
PMT-272
 
4264
PDE
rs72559419
 227761363-298-341
GAGCGCCGGGCGCGCCAGCTGGGAC G → A AGGCCCGGGAAGCCCAGGAGCACGG
+ 
 
n=
G/G=
G/A=
A/A=
A=
72
36
0
0
0.000
78
39
0
0
0.000
94
46
1
0
0.011
84
42
0
0
0.000
PMT-272
Promoter
4263
PDE
rs72559418
 227761188-123-166

C → CGCCCGCCCCC, CGCCCGC
TGCCTGCACCCTCGGGCTGCGCCCG C → CGCCCGC CCCCGCCCCATCCTCGTCCGCGCGG
TGCCTGCACCCTCGGGCTGCGCCCG C → CGCCCGCCCCC CCCCGCCCCATCCTCGTCCGCGCGG
+ 

 
 
 
n=
C/C=
C/CGCCCGC=
CGCCCGC/CGCCCGC=
C/CGCCCGCCCCC=
CGCCCGCCCCC/CGCCCGCCCCC=
CGCCCGC/CGCCCGCCCCC=
CGCCCGC=
CGCCCGCCCCC=
130
13
28
23
1
0
0
0.569
0.008
130
37
26
2
0
0
0
0.231
0.000
132
46
19
1
0
0
0
0.159
0.000
132
42
24
0
0
0
0
0.182
0.000
PMT-272
Promoter
4262
PDE
rs72559417
 227761108-43-86
CCCTCCCGGCCCGGCCCCGAGCAAA G → A GGCGTGGACGCGGTGGCGCCCGCCC
+ 
 
n=
G/G=
G/A=
A/A=
A=
130
65
0
0
0.000
130
65
0
0
0.000
132
65
1
0
0.008
132
66
0
0
0.000
PMT-272
Promoter
4261
PDE
rs72559416
 227761095-30-73
CAAAGCCCGAGGACCCTCCCGGCCC G → C GCCCCGAGCAAAGGGCGTGGACGCG
+ 
 
n=
G/G=
G/C=
C/C=
C=
130
65
0
0
0.000
130
65
0
0
0.000
132
65
1
0
0.008
132
66
0
0
0.000
PMT-272
Exon: 5UTR
Promoter
4260
PDE
rs72559415
 22776104521-23
CATGGCGCTGCGTGCGACCCGTACG C → T CTCAGCCCGCCGGCCAGGCGCGCGC
+ 
 
n=
C/C=
C/T=
T/T=
T=
130
65
0
0
0.000
130
64
1
0
0.008
132
66
0
0
0.000
132
66
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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