UCSF Pharmacogenetics of Membrane Transporters
Experiment View
NM_001043
NM_001172501
NM_001172504
NM_001172502
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Transcript:NM_001043 [Chr.16(+): 55690352-55737700 GRCh37]
Id:SLC6A2_exon3
Position:Chr.16(+): 55705783-55706152 GRCh37
Chr.16(+): 54263284-54263653 NCBI36
Sequence:
ACCCAAGGAGAGGTGGCTGTGGGGCTGGGCCTGGGAGACTCCTACCTTACCCCCTGTCCCTGCCCAGGCGTTGGCTATGC
TGTCATCCTGATCGCCCTGTACGTTGGCTTCTACTACAACGTCATCATCGCCTGGTCACTCTACTACCTCTTCTCCTCCT
TCACCCTCAACCTGCCCTGGACCGACTGTGGCCACACCTGGAACAGCCCCAACTGTACCGACCCCAAGCTCCTCAATGGC
TCCGTGCTTGGCAACCACACCAAGTACTCCAAGTACAAGTTCACGCCGGCAGCCGAGTTTTATGA
GTAAGTCACAGACCC
CTTGTGCTGGGCCTGTTGAGGCCAGTGCTTGGTATGACCTGAGCCAAACA
Color Legend: SNP  UTR  CODING
Sample Sets: Set-I
Assays: SLC6A2_3_DHPLC
SLC6A2_3_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
 
3866
PDE
55705838 GRCh37
54263339 NCBI36
  
CTGGGAGACTCCTACCTTACCCCCT G → A TCCCTGCCCAGGCGTTGGCTATGCT
+ 
 
n=
G/G=
G/A=
A/A=
A=
200
99
1
0
0.005
200
99
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3867
PDE
55706103 GRCh37
54263604 NCBI36
  
AGTTTTATGAGTAAGTCACAGACCC C → T TTGTGCTGGGCCTGTTGAGGCCAGT
+ 
 
n=
C/C=
C/T=
T/T=
T=
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

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.