UCSF Pharmacogenetics of Membrane Transporters
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Common Name:ABC41
HGNC Symbol:ABCD4
HGNC Description:ATP-binding cassette, sub-family D (ALD), member 4
HGNC ID:68
Chromosome:Chr.14(-): 73821733-73839512
Location:14q24.3
OMIM:603214
OMIM Phenotype:None
Accessions:AF009746
Nucleotide RefSeq:NM_005050
Protein RefSeq:NP_005041
Entrez:5826
Isoforms:1
Evidence:Tissue Distribution Evidence: Ubiquitous - Northern blot and RT-PCR. Holzinger A, et al. Biochem Biophys Res Commun. 1997 Aug 8;237(1):152-7.
Tissues:Ubiquitous
Type:protein coding
Sets:0
PharmGKB ID:PA24403
HPRD ID:04446
Substrates:No data
Trivial Names:P70R, P79R, ABC41, PMP69, PXMP1L, EST352188
Transcripts:NM_005050 [Chr.14(-): 73821733-73839512]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCD4 Resequencing
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Study Name:ABCD4 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
 
4329
PDE
rs72542409
 73839850-338-482
GGCAAGACCCCGCCTTTACAAAAGA C → T AAAAGCATTAGCCGGGGATGGTGGC
+ 
 
n=
C/C=
C/T=
T/T=
T=
132
63
3
0
0.023
134
67
0
0
0.000
134
67
0
0
0.000
132
65
1
0
0.008
PMT-272
 
4328
PDE
rs72542408
 73839836-324-468
AGCCTGGGCAACATGGCAAGACCCC G → A CCTTTACAAAAGACAAAAGCATTAG
+ 
 
n=
G/G=
G/A=
A/A=
A=
132
66
0
0
0.000
134
66
1
0
0.007
136
68
0
0
0.000
132
65
1
0
0.008
PMT-272
Promoter
4327
PDE
rs72542407
 73839759-247-391
CGGTGGGTTACTCCTGTAATCCCAG C → A ACTTTGGAAGGCCAAGGCGGGAGGA
+ 
 
n=
C/C=
C/A=
A/A=
A=
132
62
4
0
0.030
134
67
0
0
0.000
136
68
0
0
0.000
132
66
0
0
0.000
PMT-272
Promoter
4326
PDE
rs72542406
 73839733-221-365
GTATAAATTAGGCTTCCAGCCGGGC C → G CGGTGGGTTACTCCTGTAATCCCAG
+ 
 
n=
C/C=
C/G=
G/G=
G=
132
63
3
0
0.023
134
67
0
0
0.000
136
68
0
0
0.000
132
65
1
0
0.008
PMT-272
Promoter
4325
rs67772080
 73839730-218-362
AAAGTATAAATTAGGCTTCCAGCCG G → A GCCCGGTGGGTTACTCCTGTAATCC
+ 
 
n=
G/G=
G/A=
A/A=
A=
132
47
17
2
0.159
134
26
35
6
0.351
136
43
22
3
0.206
132
36
25
5
0.265
PMT-272
Promoter
4324
PDE
rs72542405
 73839652-140-284
TTTATGGCAAGTATTTTAGATTCTG T → A GTATAATAGATGTTTTACATATTCT
+ 
 
n=
T/T=
T/A=
A/A=
A=
132
63
3
0
0.023
134
67
0
0
0.000
136
68
0
0
0.000
132
65
1
0
0.008
PMT-272
Promoter
4323
PDE
rs72542404
 73839604-92-236
TTCTGGGAGACTTCCCTTTTGACAA T → C AGGTATCCGAGAGTGTAACTACTTT
+ 
 
n=
T/T=
T/C=
C/C=
C=
132
66
0
0
0.000
134
66
1
0
0.007
136
67
1
0
0.007
132
60
5
1
0.053
PMT-272
Promoter
4322
PDE
rs17782508
 73839594-82-226
CCCCCATATTTTCTGGGAGACTTCC C → T TTTTGACAATAGGTATCCGAGAGTG
+ 
 
n=
C/C=
C/T=
T/T=
T=
132
47
17
2
0.159
134
26
35
6
0.351
136
43
22
3
0.206
132
36
25
5
0.265
PMT-272
Exon: 5UTR
Promoter
4321
PDE
rs72542403
 7383948924-121
GCGTTTGATAGAGAGGAAGGTGCGG G → C AGACGCGGACTCTCCCGGAAGCGAC
+ 
 
n=
G/G=
G/C=
C/C=
C=
132
63
3
0
0.023
134
67
0
0
0.000
136
68
0
0
0.000
132
65
1
0
0.008
PMT-272
Exon: 5UTR
Promoter
4320
PDE
rs72559441
 7383948330-115
GAGACGGCGTTTGATAGAGAGGAAG G → A TGCGGGAGACGCGGACTCTCCCGGA
+ 
 
n=
G/G=
G/A=
A/A=
A=
132
65
1
0
0.008
134
62
5
0
0.037
136
68
0
0
0.000
132
61
5
0
0.038
PMT-272
Exon: Coding
4319
PDE
rs72542410
 738393601539
CGCCAGCTCCGGGCGCGGGCCCCGC G → C ACCGCCATGACCTGAGACCCGAGGG
+3
Val = Val
n=
G/G=
G/C=
C/C=
C=
132
64
2
0
0.015
134
67
0
0
0.000
136
68
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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