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_exon4
Position:Chr.16(+): 55718990-55719259 GRCh37
Chr.16(+): 54276491-54276760 NCBI36
Sequence:
GTCACGGCCTCTGTCGTCCTCCCTGACGACATTTACCCTGGTCCCCTCCCCTCTCCTCTGGGCAGGCGTGGTGTCCTGCA
CCTTCACGAGAGCAGCGGGATTCATGACATCGGCCTGCCCCAGTGGCAGCTCTTGCTCTGTCTGATGGTCGTCGTCATC
G
TCTTGTATTTTAGCCTCTGGAAAGGGGTGAAGACATCAGGAAAGGTAATATCTCTGTGTTTCTCTTTCACTTACTTGGGT
GATCAACCTTGGGGGGTGTGATTATTTCTA
Color Legend: SNP  UTR  CODING
Sample Sets: Set-I
Assays: SLC6A2_4_DHPLC
SLC6A2_4_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 4: Coding
3868
PDE
I
55719149 GRCh37
54276650 NCBI36
994739
GCTCTGTCTGATGGTCGTCGTCATC G → A TCTTGTATTTTAGCCTCTGGAAAGG
+247
Val → Ile
(D=29)
n=
G/G=
G/A=
A/A=
A=
200
100
0
0
0.000
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
 
3869
PDE
55719228 GRCh37
54276729 NCBI36
  
CTGTGTTTCTCTTTCACTTACTTGG G → A TGATCAACCTTGGGGGGTGTGATTA
+ 
 
n=
G/G=
G/A=
A/A=
A=
200
100
0
0
0.000
198
98
1
0
0.005
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.