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_exon9
Position:Chr.10(+): 101560068-101560389 GRCh37
Chr.10(+): 101550058-101550379 NCBI36
Sequence:
TAGCTGGCTGTGCATGAGGAGAGAGGCATCCTTGGAGGCCTTATGGGTATAACTAACTTGGCTTTTCTCTGGCAGATTGC
TGATCTCCTTTGCAAGTGACC
GTGACACATATTTGTGGATTGGATATCTCTGTGCAATCCTCTTATTCACTGCGGCTCTC
ATTCAGTCTTTCTGCCTTCAGTGTTATTTCCAACTGTGCTTCAAGCTGGGTGTAAAAGTACGGACAGCTATCATGGCTTC
TGTATATAAGAAG
GTAAGCAGAATACGGCAGGTATCACCAAAGAAAATCCCCTCAGTAAATATGAGCATTGATTCCAAGG
TT
Color Legend: SNP  UTR  CODING
Sample Sets: Set-I
Assays: ABCC2_9_DHPLC
ABCC2_9_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 9: Coding
3808
PDE
2 pubsI
101560169 GRCh37
101550159 NCBI36
11971058
TTGCTGATCTCCTTTGCAAGTGACC G → A TGACACATATTTGTGGATTGGATAT
+353
Arg → His
(D=29)
n=
G/G=
G/A=
A/A=
A=
200
94
5
1
0.035
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

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.