acyl-CoA dehydrogenase, C-4 to C-12 straight chain [Source:HGNC Symbol;Acc:89]
1
76190036
76253260
1
p31.1
76190452
76226933
ACADM
ACADM-010
HGNC Symbol
HGNC transcript name
19
40.45
protein_coding
nonsense_mediated_decay
ensembl_hava
havana
KNOWN
KNOWN
34
89
ACADM
27511
MSeqDR Master Exome Data Set M1: 386 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
1
76190037
C
G
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
rs114802787
0.0605
-
-
-
-
-
het
1
2
1
76190072
G
A
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
rs114005461
0.1456
-
-
-
-
-
het
2
3
1
76190081
C
-AG
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
4
1
76190106
C
A
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
5
1
76190106
C
A
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
hom
1
6
1
76190111
T
C
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
rs1251076
0.1961
-
-
-
-
-
hom
1
7
1
76190111
T
C
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
rs1251076
0.1961
-
-
-
-
-
het
11
8
1
76190186
C
G
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
9
1
76190207
C
T
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
10
1
76190216
G
A
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
rs17848068
0.3192
-
-
-
-
-
het
269
11
1
76190216
G
A
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
rs17848068
0.3192
-
-
-
-
-
hom
58
12
1
76190331
C
G
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
rs61124994
0.0522
-
-
-
-
-
het
31
13
1
76190331
C
G
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
rs61124994
0.0522
-
-
-
-
-
hom
1
14
1
76190349
T
+CCCGC
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
15
1
76190356
C
G
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
16
1
76190439
T
C
ENST00000370834
ENSG00000117054
76190036
76253260
ENSP00000359871
ACADM
1
-
-
-
5'_UTR
rs59932454
0.0839
C=255/T=8345;C=460/T=3946;C=715/T=12291
-
-
-
-
het
51
17
1
76190439
T
C
ENST00000370834
ENSG00000117054
76190036
76253260
ENSP00000359871
ACADM
1
-
-
-
5'_UTR
rs59932454
0.0839
C=255/T=8345;C=460/T=3946;C=715/T=12291
-
-
-
-
hom
1
18
1
76190439
T
C
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
rs59932454
0.0839
C=255/T=8345;C=460/T=3946;C=715/T=12291
-
-
-
-
het
51
19
1
76190439
T
C
ENST00000370841
ENSG00000117054
76190036
76253260
ENSP00000359878
ACADM
1
ACADM_HUMAN
-
-
5'_UTR
rs59932454
0.0839
C=255/T=8345;C=460/T=3946;C=715/T=12291
-
-
-
-
hom
1
20
1
76190439
T
C
ENST00000525881
ENSG00000117054
76190036
76253260
-
ACADM
1
-
c.64T>C
p.Y22H
non-syn
rs59932454
0.0839
C=255/T=8345;C=460/T=3946;C=715/T=12291
-
-
-
-
het
51
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