UCSF Pharmacogenetics of Membrane Transporters
Experiment View
NM_003042
XM_005265410
XM_005265411
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Transcript:NM_003042 [Chr.3(+): 11034420-11080935 GRCh37]
Id:SLC6A1_exon4
Position:Chr.3(+): 11061827-11062062 GRCh37
Chr.3(+): 11036827-11037062 NCBI36
Sequence:
GGTGCACTGGGACCACTCATGCCAGCCCCTGGGAGCCCAGCAGGATGCGTCCTCATGACTGTGTCCTTGCAGACACTGCC
GTGGAAACAGTGCGACAACCCCTGGAACACAGACCGCTGCTTCTCCAACTACAGC
ATGGTCAACACTACCAACATGACCA
GCGCTGTGGTGGAGTTCTGGGA
GTGAGTATGGGGCCATCAGGGGATGGCAGGGACGGGGCATGTCAGCCAGAGCCC
Color Legend: SNP  UTR  CODING
Sample Sets: Set-I
Assays: SLC6A1_4_DHPLC
SLC6A1_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 6: Coding
3647
PDE
11061962 GRCh37
11036962 NCBI36
946535
AGACCGCTGCTTCTCCAACTACAGC A → G TGGTCAACACTACCAACATGACCAG
+179
Met → Val
(D=21)
n=
A/A=
A/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

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.