UCSF Pharmacogenetics of Membrane Transporters
Experiment View
NM_003742
XM_005246930
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Transcript:NM_003742 [Chr.2(-): 169779449-169887833 GRCh37]
Id:ABCB11_exon27
Position:Chr.2(-): 169780070-169780404 GRCh37
Chr.2(-): 169488316-169488650 NCBI36
Sequence:
CTGAACTCTCATGATGGTGGGCTGGGGAGCAATCATGCGTCTTTGCATCAACTTTCCATCTTCTCTTTGCAGACGGTGCA
GGTTGCTCTAGACAAAGCCAGAGAGGGTCGGACCTGCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGATA
TCATTGCTGTCATGGCACAGGGGGTGGTGATTGAAAAGGGGACCCATGAAGAACTGATGGCCCAAAAAGGAGCCTACTAC
AAACTAGTCACCACTGGATCCCCCATCAGTTGA
CCCAATGCAAGAATCTCAGACACACATGACGCACCAGTTACAGGGGT
TGTTTTTAAAGAAAA
Color Legend: SNP  UTR  CODING
Sample Sets: Set-I
Assays: ABCB11_27_PCR
PMT impact: P - Public  D - Discovered  E - Exclusive  (dbSNP build 138)
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
FeaturePMT IDdbSNP/ PubMedArray AvailabilityGenomic PositionTranscript PositionCoding PositionNucleotide ChangeStrandAmino Acid PositionAmino Acid ChangeStatisticsAA FreqCA FreqAS FreqME FreqPA FreqSample Set
 
3325
PDE
1 pubI
169780366 GRCh37
169488612 NCBI36
  
ATGGTGGGCTGGGGAGCAATCATGC G → A TCTTTGCATCAACTTTCCATCTTCT
- 
 
n=
G/G=
G/A=
A/A=
A=
186
7
40
46
0.710
186
27
48
18
0.452
60
12
14
4
0.367
18
3
3
3
0.500
14
0
3
4
0.786
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.