H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
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H-Invitational ID:
HIT000029919
Accession number:
BC000787
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Similar to E3 ubiquitin-protein ligase RNF216; EC=6.3.2.-; RING finger protein 216; Triad domain-containing protein 3; Ubiquitin-conjugating enzyme 7-interacting protein 1; Zinc finger protein inhibiting NF-kappa-B;
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
16 .. 16
A/T
rs14120
+
CDS
Nonsynonymous[Lys5Met]
22 .. 22
C/T
rs140252359
-
CDS
Nonsynonymous[Ala7Val]
35 .. 35
C/G
rs200333574
-
CDS
Synonymous[Leu11Leu]
98 .. 98
G/A
rs77500990
-
CDS
Synonymous[Leu32Leu]
152 .. 152
T/G
rs143692826
-
CDS
Synonymous[Ser50Ser]
210 .. 210
C/T
rs201663977
-
CDS
Nonsynonymous[Leu70Phe]
247 .. 247
G/A
rs188558006
-
CDS
Nonsynonymous[Arg82Gln]
289 .. 289
A/T
rs148642312
-
CDS
Nonsynonymous[Tyr96Phe]
347 .. 347
G/A
rs184726431
-
CDS
Nonsynonymous[Met115Ile]
390 .. 390
C/T
rs147871230
-
CDS
Nonsynonymous[Arg130Cys]
427 .. 427
C/T
rs144654379
-
CDS
Nonsynonymous[Thr142Met]
435 .. 435
G/A
rs141012211
-
CDS
Nonsynonymous[Ala145Thr]
522 .. 522
A/G
rs200769983
-
CDS
Nonsynonymous[Met174Val]
537 .. 537
A/G
rs147757575
-
CDS
Nonsynonymous[Thr179Ala]
538 .. 538
C/T
rs199668867
-
CDS
Nonsynonymous[Thr179Met]
569 .. 569
G/A
rs28444267
-
CDS
Synonymous[Lys189Lys]
584 .. 584
C/T
rs139337390
-
CDS
Synonymous[Thr194Thr]
614 .. 614
C/T
rs200434435
-
CDS
Synonymous[Ala204Ala]
628 .. 628
C/T
rs150881855
-
CDS
Nonsynonymous[Ala209Val]
629 .. 629
G/A
rs141187642
-
CDS
Synonymous[Ala209Ala]
635 .. 635
C/G
rs201710919
-
CDS
Synonymous[Ala211Ala]
642 .. 642
G/A
rs202033038
-
CDS
Nonsynonymous[Asp214Asn]
662 .. 662
G/A
rs139879708
-
CDS
Synonymous[Pro220Pro]
677 .. 677
G/A
rs145934676
-
CDS
Synonymous[Pro225Pro]
678 .. 678
G/A
rs142393636
-
CDS
Nonsynonymous[Ala226Thr]
683 .. 683
G/T
rs138122142
-
CDS
Synonymous[Leu227Leu]
730 .. 730
G/C
rs144580837
-
CDS
Nonsynonymous[Arg243Pro]
829 .. 829
C/G
rs28642169
-
CDS
Nonsynonymous[Ser276Cys]
833 .. 833
T/A
rs149328847
-
CDS
Synonymous[Ile277Ile]
840 .. 840
A/G
rs13236790
-
CDS
Nonsynonymous[Lys280Glu]
911 .. 911
C/T
rs138573381
-
CDS
Synonymous[Asn303Asn]
913 .. 913
G/T
rs201028513
-
CDS
Nonsynonymous[Arg304Leu]
926 .. 926
C/T
rs150148326
-
CDS
Synonymous[Arg308Arg]
989 .. 989
A/G
rs141635295
-
CDS
Synonymous[Gln329Gln]
1148 .. 1148
A/G
rs139183906
-
CDS
Synonymous[Gly382Gly]
1154 .. 1154
G/A
rs146356109
-
CDS
Synonymous[Pro384Pro]
1192 .. 1192
C/A
rs142317286
-
CDS
Nonsynonymous[Ala397Asp]
1205 .. 1205
C/T
rs35337338
-
CDS
Synonymous[Pro401Pro]
1211 .. 1211
G/A
rs142956703
-
CDS
Synonymous[Pro403Pro]
1217 .. 1217
C/T
rs149012430
-
CDS
Synonymous[Asn405Asn]
1218 .. 1218
C/T
rs199612178
-
CDS
Synonymous[Leu406Leu]
1228 .. 1228
C/A
rs145800933
-
CDS
Nonsynonymous[Pro409Gln]
1243 .. 1243
A/G
rs149833669
-
CDS
Nonsynonymous[Tyr414Cys]
1250 .. 1250
C/T
rs200420546
-
CDS
Synonymous[Phe416Phe]
1252 .. 1252
C/G
rs201457738
-
CDS
Nonsynonymous[Ala417Gly]
1253 .. 1253
G/A
rs139859373
-
CDS
Synonymous[Ala417Ala]
1265 .. 1265
C/T
rs150494013
-
CDS
Synonymous[Phe421Phe]
1271 .. 1271
G/T
rs140602766
-
CDS
Synonymous[Leu423Leu]
1278 .. 1278
G/A
rs201968813
-
CDS
Nonsynonymous[Val426Met]
1283 .. 1283
G/A
rs145982348
-
CDS
Synonymous[Arg427Arg]
1287 .. 1287
G/A
rs148352106
-
CDS
Nonsynonymous[Val429Met]
1293 .. 1293
A/G
rs200453921
-
CDS
Nonsynonymous[Asn431Asp]
1316 .. 1316
G/A
rs139060618
-
CDS
Synonymous[Gly438Gly]
1352 .. 1352
C/T
rs201821155
-
CDS
Synonymous[Asn450Asn]
1357 .. 1357
G/A
rs150725128
-
CDS
Nonsynonymous[Arg452Gln]
1359 .. 1359
G/A
rs141327139
-
CDS
Nonsynonymous[Val453Ile]
1363 .. 1363
A/G
rs200847164
-
CDS
Nonsynonymous[Asn454Ser]
1379 .. 1379
C/T
rs200742026
-
CDS
Synonymous[Pro459Pro]
1388 .. 1388
G/A
rs148282284
-
CDS
Nonsynonymous[Met462Ile]
1389 .. 1389
C/T
rs144030064
-
CDS
Nonsynonymous[Pro463Ser]
1392 .. 1392
C/G
rs143677963
-
CDS
Nonsynonymous[Leu464Val]
1403 .. 1403
C/T
rs200027226
-
CDS
Synonymous[Asn467Asn]
1419 .. 1419
G/C
rs138117808
-
CDS
Nonsynonymous[Gly473Arg]
1430 .. 1430
G/A
rs146694552
-
CDS
Synonymous[Pro476Pro]
1523 .. 1523
G/A
rs185141832
-
3'UTR
1599 .. 1599
C/G
rs180886348
-
3'UTR
1702 .. 1702
C/T
rs188555930
-
3'UTR
1809 .. 1809
C/T
rs141250652
-
3'UTR
1960 .. 1960
C/A
rs76401198
-
3'UTR
1976 .. 1976
G/A
rs147805116
-
3'UTR
2057 .. 2057
C/T
rs144289831
-
3'UTR
2061 .. 2061
G/A
rs73052800
-
3'UTR
2142 .. 2142
G/T
rs141999640
-
3'UTR
2236 .. 2236
A/C
rs144890391
-
3'UTR
2243 .. 2243
G/T
rs186611672
-
3'UTR
2300 .. 2300
G/A
rs852437
+
3'UTR
2438 .. 2438
T/G
rs79931409
-
3'UTR
2489 .. 2489
C/T
rs181414224
-
3'UTR
2525 .. 2525
G/C
rs852438
+
3'UTR
2537 .. 2537
A/G
rs112503803
-
3'UTR
2643 .. 2643
G/A
rs149957776
-
3'UTR
2723 .. 2723
G/T
rs11556570
+
3'UTR
2788 .. 2788
C/T
rs73676614
-
3'UTR
2807 .. 2807
C/T
rs73336241
-
3'UTR
2843 .. 2843
A/G
rs115776482
-
3'UTR
2853 .. 2853
A/G
rs190154117
-
3'UTR
2877 .. 2877
C/T
rs185350352
-
3'UTR
2908 .. 2908
G/A
rs852439
+
3'UTR
2926 .. 2926
C/A
rs113132759
-
3'UTR
2943 .. 2943
G/C
rs150776265
-
3'UTR
2971 .. 2971
G/C
rs73336234
-
3'UTR
3002 .. 3002
A/G
rs852440
+
3'UTR
3115 .. 3115
A/T
rs78254837
-
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
Type
Start
End
Strand
AluSp
2855
3133
+
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;