UCSF Pharmacogenetics of Membrane Transporters
Experiment View
NM_000392
XM_005269536
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Transcript:NM_000392 [Chr.10(+): 101542463-101611662 GRCh37]
Id:ABCC2_exon13
Position:Chr.10(+): 101567768-101568053 GRCh37
Chr.10(+): 101557758-101558043 NCBI36
Sequence:
GTTCCTGAAACTTAGCACAATGCTGCTTGGTCCCTTTTAGGAATAAATTGCTCATGACCTTGCCCTTTCCAGGTATCTGT
GGTCACATT
TTCTGTTTATGTCCTGGTGGATAGCAACAATATTTTGGATGCACAAAAGGCCTTCACCTCCATTACCCTCT
TCAATATCCTGCGCTTTCCCCTGAGCATGCTTCCCATGATGATCTCCTCCATGCTCCAG
GTAGGTCGGCATTCTCACTGC
TAACTCCCTGTCTCTGGTTAAAAGCCTTGGAGTCCAGAATGACTGG
Color Legend: SNP  UTR  CODING
Sample Sets: Set-I
Assays: ABCC2_13_DHPLC
ABCC2_13_PCR
PMT impact: P - Public  D - Discovered  E - Exclusive  (dbSNP build 142)
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
Exon 13: Coding
3815
PDE
101567857 GRCh37
101557847 NCBI36
18251686
CTTTCCAGGTATCTGTGGTCACATT T → G TCTGTTTATGTCCTGGTGGATAGCA
+562
Phe → Leu
(D=22)
n=
T/T=
T/G=
G/G=
G=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3816
PDE
101568013 GRCh37
101558003 NCBI36
  
TAGGTCGGCATTCTCACTGCTAACT C → G CCTGTCTCTGGTTAAAAGCCTTGGA
+ 
 
n=
C/C=
C/G=
G/G=
G=
200
82
17
1
0.095
200
100
0
0
0.000
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
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.