UCSF Pharmacogenetics of Membrane Transporters
Experiment View
NM_003042
XM_005265410
XM_005265411
[Your browser is not displaying the SVG image of experimental data in gene context.]
Transcript:NM_003042 [Chr.3(+): 11034420-11080935 GRCh37]
Id:SLC6A1_exon13
Position:Chr.3(+): 11076149-11076442 GRCh37
Chr.3(+): 11051149-11051442 NCBI36
Sequence:
GCTTCAGGGTGGTTCATCCTGGGTGACTGACTCCTCCCCCTCCCTCCCCTCCCCTCCACCCTCTCCAGGGCGTGTTCATT
TTCAGTGCTGTGCAGATGACGCCACTCACCATGGGAAACTATGTTTTCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGAT
GGCTCTGTCTTCCATGGTCCTCATCCC
CGGGTACATGGCCTACATGTTCCTCACCTTAAAGGGCTCCCTGAAGCAGGTAA
GCCCTTCCCCACCCTTCAAATTGCCAGTGCCCTTCTCCCACTGTGTCAGGCACA
Color Legend: SNP  UTR  CODING
Sample Sets: Set-I
Assays: SLC6A1_13_DHPLC
SLC6A1_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 15: Coding
3661
PDE
11076336 GRCh37
11051336 NCBI36
20581647
CTCTGTCTTCCATGGTCCTCATCCC C → T GGGTACATGGCCTACATGTTCCTCA
+549
Pro = Pro
n=
C/C=
C/T=
T/T=
T=
200
100
0
0
0.000
200
100
0
0
0.000
60
28
2
0
0.033
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3662
PDE
11076400 GRCh37
11051400 NCBI36
  
CCTGAAGCAGGTAAGCCCTTCCCCA C → G CCTTCAAATTGCCAGTGCCCTTCTC
+ 
 
n=
C/C=
C/G=
G/G=
G=
200
96
4
0
0.020
200
75
24
1
0.130
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.