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Common Name:ABCX
HGNC Symbol:ABCA7
HGNC Description:ATP-binding cassette, sub-family A (ABC1), member 7
HGNC ID:37
Chromosome:Chr.19(+): 991102-1016571
Location:19p13.3
OMIM:605414
OMIM Phenotype:None
Accessions:AF250238,AF328787
Nucleotide RefSeq:NM_019112
Protein RefSeq:NP_061985
Entrez:10347
Isoforms:1
Evidence:Substrate In Vitro Evidence: 1. Phospholipids - HEK293 transport assay - Wang N et al, JBC 2003: 42906-429-12 Tissue Distribution Evidence: 1. Thymus, spleen, lymph node, bone marrow, peripheral leukocytes, fetal liver - Northern Blot - Kaminski WE et al, Biochemical and Biophysical Research Communications 2000: 532-538
Tissues:thymus, spleen, lymph node, bone marrow, peripheral leukocytes, fetal liver
Type:protein coding
Sets:0
PharmGKB ID:PA24382
HPRD ID:09255
Substrates:phospholipids
Trivial Names:ABCX, ABCA-SSN, FLJ40025
Transcripts:NM_019112 [Chr.19(+): 991102-1016571]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCA7 Resequencing
[Your browser is not displaying the SVG image of experimental data in gene context.]
Study Name:ABCA7 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
 
4185
PDE
rs10422202
 991744 -617
CGATTAATGCTACATAAGGTGTGGG C → G AGAGCTGGGGTCGTGCCTCCGGCTG
+ 
 
n=
C/C=
C/G=
G/G=
G=
126
55
7
1
0.071
124
62
0
0
0.000
132
66
0
0
0.000
128
64
0
0
0.000
PMT-272
 
4186
PDE
rs4147904
 991765 -596
TGGGCAGAGCTGGGGTCGTGCCTCC G → A GCTGGGCAACTGCCTGTCTCTCTGG
+ 
 
n=
G/G=
G/A=
A/A=
A=
128
7
23
34
0.711
126
15
27
21
0.548
132
10
33
23
0.598
130
31
29
5
0.300
PMT-272
 
4187
PDE
rs72559407
 991772 -589
AGCTGGGGTCGTGCCTCCGGCTGGG C → G AACTGCCTGTCTCTCTGGGTGCCTG
+ 
 
n=
C/C=
C/G=
G/G=
G=
128
61
3
0
0.023
132
66
0
0
0.000
134
67
0
0
0.000
130
65
0
0
0.000
PMT-272
 
4188
PDE
rs10406449
 991773 -588
GCTGGGGTCGTGCCTCCGGCTGGGC A → G ACTGCCTGTCTCTCTGGGTGCCTGG
+ 
 
n=
A/A=
A/G=
G/G=
G=
128
35
25
4
0.258
132
60
6
0
0.045
134
54
12
1
0.104
130
64
1
0
0.008
PMT-272
 
4189
PDE
rs72559408
 991969 -392
GGCTGGGCCAGGCAGGAGGCTGGGG G → - TCAGGACCTGGAAGAGGCTTCCAGG
+ 
 
n=
G/G=
G/-=
-/-=
-=
130
54
10
1
0.092
132
66
0
0
0.000
134
67
0
0
0.000
130
65
0
0
0.000
PMT-272
 
4190
PDE
rs66544261
 992086 -275
GATGATCTTTAAGTCCCCAGCTGTC A → G GCCCTGCTCAGAGCGACAGTCCTGG
+ 
 
n=
A/A=
A/G=
G/G=
G=
110
39
15
1
0.155
132
66
0
0
0.000
134
67
0
0
0.000
130
64
1
0
0.008
PMT-272
 
4191
PDE
rs3752228
I992164 -197
GGGTTGCGCTCCCATTGGTTTACTC C → T ACCCCTGGGGTAGCGGAGCCTCTTT
+ 
 
n=
C/C=
C/T=
T/T=
T=
110
51
3
1
0.045
132
60
6
0
0.045
134
54
12
1
0.104
130
65
0
0
0.000
PMT-272
 
4192
PDE
rs72559409
 992213 -148
TTATCGAGTGACTACTGTTTGCCTC G → C CTCTAATCAGAGCTTCCAGGAACCC
+ 
 
n=
G/G=
G/C=
C/C=
C=
110
55
0
0
0.000
132
65
1
0
0.008
134
67
0
0
0.000
130
65
0
0
0.000
PMT-272
Exon: 5UTR
4193
PDE
rs72559410
 992286157-75
AGGTTCAGAAAGGGGCAGGGAGTTG C → T CCGCAGCCGCACCGCACGTCTTCAG
+ 
 
n=
C/C=
C/T=
T/T=
T=
110
54
1
0
0.009
132
66
0
0
0.000
134
67
0
0
0.000
130
65
0
0
0.000
PMT-272

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.
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