sterol carrier protein 2 [Source:HGNC Symbol;Acc:10606]
1
53392901
53517375
1
p32.3
53429313
53453752
SCP2
SCP2-003
HGNC Symbol
HGNC transcript name
16
40.01
protein_coding
processed_transcript
ensembl_hava
havana
KNOWN
KNOWN
6342
10606
SCP2
27511
MSeqDR Master Exome Data Set M1: 420 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
53392908
A
C
ENST00000371514
ENSG00000116171
53392901
53517375
ENSP00000360569
SCP2
1
NLTP_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
2
1
53392908
A
G
ENST00000371514
ENSG00000116171
53392901
53517375
ENSP00000360569
SCP2
1
NLTP_HUMAN
-
-
5'_UTR
rs1242331
0.6176
-
-
-
-
-
hom
264
3
1
53392908
A
G
ENST00000371514
ENSG00000116171
53392901
53517375
ENSP00000360569
SCP2
1
NLTP_HUMAN
-
-
5'_UTR
rs1242331
0.6176
-
-
-
-
-
het
219
4
1
53392914
C
T
ENST00000371514
ENSG00000116171
53392901
53517375
ENSP00000360569
SCP2
1
NLTP_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
5
1
53392989
A
T
ENST00000371509
ENSG00000116171
53392901
53517375
ENSP00000360564
SCP2
1
-
-
-
5'_UTR
rs115810571
0.0604
-
-
-
-
-
het
4
6
1
53392989
A
T
ENST00000371509
ENSG00000116171
53392901
53517375
ENSP00000360564
SCP2
1
-
-
-
5'_UTR
rs115810571
0.0604
-
-
-
-
-
hom
1
7
1
53392989
A
T
ENST00000371514
ENSG00000116171
53392901
53517375
ENSP00000360569
SCP2
1
NLTP_HUMAN
-
-
5'_UTR
rs115810571
0.0604
-
-
-
-
-
het
4
8
1
53392989
A
T
ENST00000371514
ENSG00000116171
53392901
53517375
ENSP00000360569
SCP2
1
NLTP_HUMAN
-
-
5'_UTR
rs115810571
0.0604
-
-
-
-
-
hom
1
9
1
53392989
A
T
ENST00000407246
ENSG00000116171
53392901
53517375
ENSP00000384569
SCP2
1
-
-
-
5'_UTR
rs115810571
0.0604
-
-
-
-
-
het
4
10
1
53392989
A
T
ENST00000407246
ENSG00000116171
53392901
53517375
ENSP00000384569
SCP2
1
-
-
-
5'_UTR
rs115810571
0.0604
-
-
-
-
-
hom
1
11
1
53392989
A
T
ENST00000478631
ENSG00000116171
53392901
53517375
ENSP00000435194
SCP2
1
-
-
-
5'_UTR
rs115810571
0.0604
-
-
-
-
-
het
4
12
1
53392989
A
T
ENST00000478631
ENSG00000116171
53392901
53517375
ENSP00000435194
SCP2
1
-
-
-
5'_UTR
rs115810571
0.0604
-
-
-
-
-
hom
1
13
1
53392989
A
T
ENST00000528311
ENSG00000116171
53392901
53517375
ENSP00000434132
SCP2
1
NLTP_HUMAN
-
-
5'_UTR
rs115810571
0.0604
-
-
-
-
-
het
4
14
1
53392989
A
T
ENST00000528311
ENSG00000116171
53392901
53517375
ENSP00000434132
SCP2
1
NLTP_HUMAN
-
-
5'_UTR
rs115810571
0.0604
-
-
-
-
-
hom
1
15
1
53393012
C
T
ENST00000371509
ENSG00000116171
53392901
53517375
ENSP00000360564
SCP2
1
-
-
-
5'_UTR
rs140752743
0.056
-
-
-
-
-
het
9
16
1
53393012
C
T
ENST00000371513
ENSG00000116171
53392901
53517375
ENSP00000360568
SCP2
1
NLTP_HUMAN
-
-
5'_UTR
rs140752743
0.056
-
-
-
-
-
het
9
17
1
53393012
C
T
ENST00000371514
ENSG00000116171
53392901
53517375
ENSP00000360569
SCP2
1
NLTP_HUMAN
-
-
5'_UTR
rs140752743
0.056
-
-
-
-
-
het
9
18
1
53393012
C
T
ENST00000407246
ENSG00000116171
53392901
53517375
ENSP00000384569
SCP2
1
-
-
-
5'_UTR
rs140752743
0.056
-
-
-
-
-
het
9
19
1
53393012
C
T
ENST00000478631
ENSG00000116171
53392901
53517375
ENSP00000435194
SCP2
1
-
-
-
5'_UTR
rs140752743
0.056
-
-
-
-
-
het
9
20
1
53393012
C
T
ENST00000528311
ENSG00000116171
53392901
53517375
ENSP00000434132
SCP2
1
NLTP_HUMAN
-
-
5'_UTR
rs140752743
0.056
-
-
-
-
-
het
9
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