H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
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H-Invitational ID:
HIT000427145
Accession number:
AK308279
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Similar to BRCA1-associated protein; EC=6.3.2.-; BRAP2; Impedes mitogenic signal propagation; IMP; RING finger protein 52; Renal carcinoma antigen NY-REN-63;
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
136 .. 136
G/A
rs202105196
-
5'UTR
168 .. 168
G/A
rs141335797
-
5'UTR
177 .. 177
C/T
rs80229432
-
5'UTR
184 .. 184
G/A
rs147705864
-
5'UTR
247 .. 247
C/A
rs200187507
-
5'UTR
248 .. 248
G/A
rs181224221
-
5'UTR
323 .. 323
G/A
rs139302752
-
5'UTR
346 .. 346
A/G
rs200917894
-
5'UTR
350 .. 350
C/T
rs151261185
-
5'UTR
351 .. 351
G/A
rs142262681
-
5'UTR
440 .. 440
G/C
rs140623695
-
5'UTR
460 .. 460
A/G
rs147210846
-
5'UTR
463 .. 463
G/C
rs143630478
-
5'UTR
543 .. 543
T/C
rs139620390
-
5'UTR
565 .. 565
A/G
rs144542573
-
5'UTR
617 .. 617
A/G
rs200004698
-
5'UTR
618 .. 618
A/G
rs201543263
-
5'UTR
630 .. 630
T/C
rs61308437
-
5'UTR
676 .. 676
C/T
rs76800978
-
5'UTR
677 .. 677
G/A
rs200710042
-
5'UTR
686 .. 686
C/T
rs185194817
-
5'UTR
774 .. 774
A/G
rs3782886
+
5'UTR
788 .. 788
A/C
rs150096881
-
5'UTR
789 .. 789
A/G
rs200808361
-
5'UTR
796 .. 796
G/T
rs11065998
-
5'UTR
801 .. 801
C/T
rs61999323
-
5'UTR
888 .. 888
C/T
rs200044236
-
5'UTR
911 .. 911
T/C
rs76462077
-
5'UTR
914 .. 914
A/C
rs117767747
-
5'UTR
970 .. 970
C/A
rs78905232
-
CDS
Nonsynonymous[Gln1Lys]
978 .. 978
C/G
rs201734278
-
CDS
Synonymous[Pro3Pro]
1058 .. 1058
G/T
rs139027955
-
CDS
Nonsynonymous[Gly30Val]
1060 .. 1060
T/C
rs200646186
-
CDS
Nonsynonymous[Cys31Arg]
1071 .. 1071
T/C
rs1989938
-
CDS
Synonymous[Tyr34Tyr]
1074 .. 1074
C/T
rs3742002
+
CDS
Synonymous[Val35Val]
1116 .. 1116
G/A
rs151101195
-
CDS
Synonymous[Thr49Thr]
1141 .. 1141
C/A
rs143762858
-
CDS
Synonymous[Arg58Arg]
1179 .. 1179
A/G
rs12817927
-
CDS
Synonymous[Arg70Arg]
1205 .. 1205
A/T
rs12817909
-
CDS
Nonsynonymous[Lys79Ile]
1209 .. 1209
A/C
rs148963141
-
CDS
Synonymous[Ile80Ile]
1404 .. 1404
G/A
rs61739319
-
CDS
Synonymous[Lys145Lys]
1466 .. 1466
A/G
rs118186470
-
CDS
Nonsynonymous[Lys166Arg]
1496 .. 1496
A/G
rs190633865
-
CDS
Nonsynonymous[Lys176Arg]
1516 .. 1516
G/T
rs11541241
+
CDS
AA-STOP[Glu183*]
1532 .. 1532
A/C
rs149777018
-
CDS
Nonsynonymous[Asn188Thr]
1544 .. 1544
G/A
rs185820400
-
CDS
Nonsynonymous[Arg192Gln]
1548 .. 1548
C/T
rs202001896
-
CDS
Synonymous[Ala193Ala]
1558 .. 1558
C/T
rs201288855
-
CDS
Nonsynonymous[Leu197Phe]
1588 .. 1588
A/T
rs140662424
-
CDS
Nonsynonymous[Arg207Trp]
1596 .. 1596
G/A
rs147643341
-
CDS
Synonymous[Leu209Leu]
1633 .. 1633
G/A
rs137950599
-
CDS
Nonsynonymous[Glu222Lys]
1656 .. 1656
C/T
rs200375363
-
CDS
Synonymous[Asp229Asp]
1712 .. 1712
G/A
rs145317226
-
CDS
Nonsynonymous[Arg248Gln]
1723 .. 1723
C/A
rs139764163
-
CDS
Nonsynonymous[Gln252Lys]
1731 .. 1731
A/G
rs200653575
-
CDS
Synonymous[Gly254Gly]
1793 .. 1793
T/G
rs202071231
-
CDS
Nonsynonymous[Leu275Trp]
1811 .. 1811
G/A
rs150778696
-
CDS
Nonsynonymous[Arg281His]
1837 .. 1837
G/A
rs7297248
-
3'UTR
1847 .. 1847
C/T
rs190116321
-
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
;