H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
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H-Invitational ID:
HIT000335274
Accession number:
BC095481
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Protein enabled homolog;
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information
Single Nucleotide Polymorphism (SNP) and indel
Location
Variation
dbSNP ID
Strand
CDS/UTR
Translation
216 .. 216
C/T
rs149362944
-
5'UTR
306 .. 306
G/C
rs116481763
-
5'UTR
371 .. 371
C/T
rs11558604
+
5'UTR
504 .. 504
G/A
rs201973976
-
CDS
Nonsynonymous[Asp18Asn]
511 .. 511
A/G
rs149009967
-
CDS
Nonsynonymous[Asn20Ser]
745 .. 745
A/G
rs141332414
-
CDS
Nonsynonymous[Asn98Ser]
770 .. 770
T/C
rs146464464
-
CDS
Synonymous[His106His]
854 .. 854
C/T
rs139065275
-
CDS
Synonymous[Gly134Gly]
881 .. 881
A/G
rs148691501
-
CDS
Synonymous[Gln143Gln]
918 .. 918
C/A
rs201023360
-
CDS
Nonsynonymous[Leu156Met]
925 .. 925
G/A
rs143642798
-
CDS
Nonsynonymous[Arg158Gln]
1085 .. 1085
G/A
rs201432124
-
CDS
Synonymous[Glu211Glu]
1095 .. 1095
C/T
rs138096201
-
CDS
Nonsynonymous[Arg215Cys]
1096 .. 1096
G/A
rs149587286
-
CDS
Nonsynonymous[Arg215His]
1103 .. 1103
G/A
rs140432837
-
CDS
Synonymous[Glu217Glu]
1113 .. 1113
C/T
rs148381397
-
CDS
Nonsynonymous[Arg221Cys]
1121 .. 1121
T/A
rs2785204
-
CDS
Nonsynonymous[Asp223Glu]
1122 .. 1122
C/T
rs141364661
-
CDS
Nonsynonymous[Arg224Trp]
1146 .. 1146
C/G
rs200650081
-
CDS
Nonsynonymous[Arg232Gly]
1169 .. 1169
A/T
rs201461224
-
CDS
Nonsynonymous[Glu239Asp]
1170 .. 1170
C/T
rs142024814
-
CDS
Nonsynonymous[Arg240Trp]
1189 .. 1189
A/G
rs199518908
-
CDS
Nonsynonymous[Glu246Gly]
1211 .. 1211
A/G
rs1340868
-
CDS
Synonymous[Arg253Arg]
1228 .. 1228
A/G
rs201871225
-
CDS
Nonsynonymous[Glu259Gly]
1246 .. 1246
C/T
rs150540046
-
CDS
Nonsynonymous[Ser265Leu]
1282 .. 1282
T/C
rs147227325
-
CDS
Nonsynonymous[Leu277Pro]
1342 .. 1342
C/T
rs147401807
-
CDS
Nonsynonymous[Pro297Leu]
1353 .. 1353
C/G
rs143810413
-
CDS
Nonsynonymous[Pro301Ala]
1380 .. 1380
C/T
rs200278281
-
CDS
Nonsynonymous[Pro310Ser]
1390 .. 1390
C/T
rs149359910
-
CDS
Nonsynonymous[Pro313Leu]
1394 .. 1394
A/C
rs145188989
-
CDS
Synonymous[Pro314Pro]
1509 .. 1509
C/G
rs201016572
-
CDS
Nonsynonymous[Pro353Ala]
1628 .. 1628
T/G
rs112734185
-
CDS
Synonymous[Leu392Leu]
1644 .. 1644
G/A
rs143052362
-
CDS
Nonsynonymous[Gly398Arg]
1645 .. 1645
G/A
rs145797306
-
CDS
Nonsynonymous[Gly398Glu]
1677 .. 1677
G/A
rs151173302
-
CDS
Nonsynonymous[Asp409Asn]
1681 .. 1681
C/A
rs149039693
-
CDS
Nonsynonymous[Thr410Asn]
1708 .. 1708
T/C
rs75136619
-
CDS
Nonsynonymous[Ile419Thr]
1771 .. 1771
G/C
rs139773212
-
CDS
Nonsynonymous[Gly440Ala]
1805 .. 1805
G/C
rs147843407
-
CDS
Synonymous[Leu451Leu]
1837 .. 1837
G/A
rs150858944
-
CDS
Nonsynonymous[Gly462Glu]
1843 .. 1843
C/A
rs75986582
-
CDS
Nonsynonymous[Thr464Lys]
1844 .. 1844
A/G
rs141466987
-
CDS
Synonymous[Thr464Thr]
1855 .. 1855
A/G
rs113271908
-
CDS
Nonsynonymous[Glu468Gly]
1857 .. 1857
C/G
rs77211786
-
CDS
Nonsynonymous[Gln469Glu]
1865 .. 1865
G/A
rs146063337
-
CDS
Synonymous[Glu471Glu]
1926 .. 1926
C/T
rs189813142
-
CDS
Nonsynonymous[Pro492Ser]
1982 .. 1982
T/A
rs143799748
-
CDS
Synonymous[Val510Val]
1984 .. 1984
T/C
rs149413176
-
CDS
Nonsynonymous[Ile511Thr]
2001 .. 2001
C/T
rs191248485
-
CDS
Nonsynonymous[Pro517Ser]
2101 .. 2101
C/T
rs141150172
-
CDS
Nonsynonymous[Thr550Met]
2169 .. 2169
C/T
rs11556772
+
CDS
Synonymous[Leu573Leu]
2171 .. 2171
A/C
rs144474730
-
CDS
Synonymous[Leu573Leu]
2188 .. 2188
A/G
rs113170551
-
CDS
Nonsynonymous[Asp579Gly]
2223 .. 2223
G/A
rs114476062
-
CDS
Nonsynonymous[Ala591Thr]
2232 .. 2232
G/A
rs17501138
-
3'UTR
2251 .. 2251
G/T
rs184878811
-
3'UTR
2402 .. 2402
T/A
rs149348028
-
3'UTR
2450 .. 2450
A/T
rs1054019
+
3'UTR
2469 .. 2469
T/C
rs192876284
-
3'UTR
2530 .. 2530
G/A
rs188405610
-
3'UTR
2714 .. 2714
A/G
rs11556773
+
3'UTR
2733 .. 2733
A/G
rs74147001
-
3'UTR
2835 .. 2835
G/A
rs17560215
-
3'UTR
2885 .. 2885
T/A
rs184404375
-
3'UTR
2963 .. 2963
A/G
rs150637090
-
3'UTR
3143 .. 3143
C/T
rs191886070
-
3'UTR
3165 .. 3165
G/T
rs141743089
-
3'UTR
3204 .. 3204
G/A
rs115933398
-
3'UTR
3307 .. 3307
A/G
rs187787533
-
3'UTR
3344 .. 3344
T/C
rs184670333
-
3'UTR
3410 .. 3410
A/G
rs138086855
-
3'UTR
3482 ^ 3483
-/TA
rs60677427
-
3'UTR
3484 ^ 3485
-/TA
rs138532187
-
3'UTR
3914 .. 3914
G/A
rs147011147
-
3'UTR
4076 .. 4076
C/T
rs1044878
+
3'UTR
4243 .. 4243
T/C
rs1062859
+
3'UTR
4247 ^ 4248
-/CAA
rs71845502
-
3'UTR
4336 .. 4336
C/T
rs10915844
-
3'UTR
4346 .. 4346
A/G
rs142851338
-
3'UTR
4401 ^ 4402
-/G
rs35840692
-
3'UTR
4417 .. 4417
C/T
rs10915843
-
3'UTR
4494 .. 4494
C/T
rs10915842
-
3'UTR
4522 .. 4522
T/A
rs200251176
+
3'UTR
Microsatellite (Short Tandem Repeat, STR)
No data available
Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Repeat
No data available
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;