UCSF Pharmacogenetics of Membrane Transporters
Experiment View
NM_000927
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Transcript:NM_000927 [Chr.7(-): 87133179-87342639 GRCh37]
Id:ABCB1_exon25
Position:Chr.7(-): 87144482-87144827 GRCh37
Chr.7(-): 86982418-86982763 NCBI36
Sequence:
CACCTGGTAATCGAGAGAGTTAGCTATACACTTTATTTTCAGTATTGCAGCATTCAAATTTACTGTTATTCTTCTCATTG
CAGAACACATTGGAAGGAAATGTCACATTTGGTGAAGTTGTATTCAACTATCCCACCCGACCGGACATCCCAGTGCTTCA
GGGACTGAGCCTGGAGGTGAAGAAGGGCCAGACGCTGGCTCTGGTGGGCAGCAGTGGCTGTGGGAAGAGCACAGTGGTCC
AGCTCCTGGAGCGGTTCTACGACCCCTTGGCAGGGAAAGTG
GTGAGCACACTTTCACATTTAGCTCAGTTCAGGTTTTCA
TCATCCAAATGTCTGAATGTATTTAA
Color Legend: SNP  UTR  CODING
Sample Sets: Set-I
Assays: ABCB1_25_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 26: Coding
3699
PDE
1 pub
87144678 GRCh37
86982614 NCBI36
36443151
CAACTATCCCACCCGACCGGACATC C → G CAGTGCTTCAGGGACTGAGCCTGGA
-1051
Pro → Ala
(D=27)
n=
C/C=
C/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.