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Common Name:PRED6
HGNC Symbol:ABCC13
HGNC Description:ATP-binding cassette, sub-family C (CFTR/MRP), member 13
HGNC ID:16022
Chromosome:Chr.21(+): 14567991-14595578
Location:21q11.2
OMIM:608835
OMIM Phenotype:None
Accessions:AF418600,AY063515
Nucleotide RefSeq:NR_003087
Protein RefSeq:
Entrez:150000
Isoforms:2
Evidence:Tissue Distribution Evidence: 1 Human fetal liver > ascending colon, fetal spleen - Q-PCR, Yauuchi H et al, Biochemical and Biophysical Research Communications, 2002: 410-417
Tissues:human fetal liver
Type:pseudo
Sets:0
PharmGKB ID:PA134875904
HPRD ID:10586
Substrates:None
Trivial Names:PRED6, C21orf73
Transcripts:NR_003087 [Chr.21(+): 14567991-14595578]
NR_003088 [Chr.21(+): 14567991-14585591]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCC13 Resequencing
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Study Name:ABCC13 Resequencing
Experiments:
SNP impact: P - Public  D - Discovered  E - Exclusive  (dbSNP build 130)
SNP array availability: I - found on Illumina Human1M-Duo BeadChip  A - found on Affymetrix Genome-Wide SNP Array 6.0  
FeaturePMT SNP IDdbSNP/ PubMedSNP Array AvailabilityGenomic PositionTranscript PositionCoding PositionNucleotide ChangeStrand, '+' or '-'Amino Acid PositionAmino Acid ChangeStatisticsAA FreqCA FreqAS FreqME FreqSample Set
Promoter
4305
PDE
rs2822520
I14567931-60 
AACAGGAAATGGAAAAGGGAGAACT A → G CTGAGTCAAGTGCAAACTCCCAGCC
+ 
 
n=
A/A=
A/G=
G/G=
G=
132
46
18
2
0.167
134
44
20
3
0.194
134
44
16
7
0.224
128
53
10
1
0.094
PMT-272
Exon
4306
PDE
rs57228841
 1456806171 
TCCACCAGCACCCCGCCCCAGGCGC A → T CTGGCTAGGACTGGAAGGCAAGGAC
+ 
 
n=
A/A=
A/T=
T/T=
T=
130
64
1
0
0.008
134
59
8
0
0.060
134
67
0
0
0.000
128
59
5
0
0.039
PMT-272
Exon
4307
PDE
rs72559431
 14568118128 
GAAAGCTGACTGCCCGCACCGCCCC A → G GGCGCACTGGGTAGGACTGAAAGGC
+ 
 
n=
A/A=
A/G=
G/G=
G=
130
65
0
0
0.000
134
67
0
0
0.000
134
67
0
0
0.000
128
63
1
0
0.008
PMT-272
Exon
4308
PDE
rs8129984
 14568268278 
GCAGCCGGGCTCTCAGCCAGCGGCC G → A GGCGCCCCGCGGACCATGCTCTCCA
+ 
 
n=
G/G=
G/A=
A/A=
A=
130
47
17
1
0.146
134
52
15
0
0.112
134
59
8
0
0.060
128
41
19
4
0.211
PMT-272
Exon
4309
PDE
rs2236001
 14568276286 
GCTCTCAGCCAGCGGCCGGGCGCCC C → A GCGGACCATGCTCTCCAGTACGCAG
+ 
 
n=
C/C=
C/A=
A/A=
A=
130
49
15
1
0.131
134
43
21
3
0.201
134
43
17
7
0.231
128
54
9
1
0.086
PMT-272
Exon
4310
PDE
rs61742419
 14568310320 
TGCTCTCCAGTACGCAGAACGCGGG C → T GGCTCCTATCAGCGGGTCCGCGGGG
+ 
 
n=
C/C=
C/T=
T/T=
T=
130
64
1
0
0.008
134
62
5
0
0.037
134
67
0
0
0.000
128
62
2
0
0.016
PMT-272

Transmembrane prediction: TOPO2 image is not available.
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