UCSF Pharmacogenetics of Membrane Transporters
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Common Name:LI2
HGNC Symbol:ABCA12
HGNC Description:ATP-binding cassette, sub-family A (ABC1), member 12
HGNC ID:14637
Chromosome:Chr.2(-): 215504511-215711396
Location:2q34
OMIM:607800
OMIM Phenotype:Ichthyosis, lamellar 2
Accessions:AK096597,AY033486,AY219711
Nucleotide RefSeq:NM_173076
Protein RefSeq:NP_775099
Entrez:26154
Isoforms:2
Evidence:Substrate In Vivo Evidence: 1. Mutations associated with Lamellar ichthyosis type 2, Lefevre C et al, Human Molecular Genetics, 2003: 2369-78 Tissue Distribution Evidence: 1. Lung, testis, placenta 2. Stomach - Northern Blot, Annilo T et al, Cytogenetic and Genome Research, 2002: 169-76
Tissues:Lung, testis, placenta, stomach
Type:protein coding
Sets:0
PharmGKB ID:PA24376
HPRD ID:07416
Substrates:None
Trivial Names:LI2, ICR2B, FLJ41584, DKFZp434G232
Transcripts:NM_015657 [Chr.2(-): 215504511-215605055]
NM_173076 [Chr.2(-): 215504511-215711396]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCA12 Resequencing
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Study Name:ABCA12 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
 
4163
PDE
rs72557999
 215711885-489-709
TAGGGAAAGTGTCCACCTTTAACCT A → G AAGTTGAATGTTTCGATTTTGGGGG
+ 
 
n=
A/A=
A/G=
G/G=
G=
132
65
1
0
0.008
130
65
0
0
0.000
130
65
0
0
0.000
116
58
0
0
0.000
PMT-272
 
5130
PDE
rs2948981
I215711652-256-476
GTCACAGGGACTAGGGGGTGGGACC T → C TTGCAAGGCCAGTAGGACTTGTCCT
+ 
 
n=
T/T=
T/C=
C/C=
C=
132
11
31
24
0.598
130
40
21
4
0.223
130
65
0
0
0.000
116
39
15
4
0.198
PMT-272
Promoter
5867
 215711638-242-462
CCTGCACTGGATGCGTCACAGGGAC T → G AGGGGGTGGGACCTTTGCAAGGCCA
+ 
 
n=
T/T=
T/G=
G/G=
G=
132
66
0
0
0.000
130
65
0
0
0.000
130
65
0
0
0.000
116
57
1
0
0.009
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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