H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
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H-Invitational ID:
HIT000390003
Accession number:
BC129930
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Similar to Chaperone activity of bc1 complex-like, mitochondrial; Chaperone-ABC1-like; EC=2.7.11.-; aarF domain-containing protein kinase 3; Precursor;
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
42 .. 42
A/G
rs183482270
+
5'UTR
48 .. 48
C/T
rs186320033
+
5'UTR
128 .. 128
T/G
rs16846644
+
5'UTR
203 .. 203
G/C
rs180736874
+
5'UTR
307 .. 307
C/A
rs138360609
+
5'UTR
308 .. 308
G/A
rs12035060
+
5'UTR
363 .. 363
C/T
rs149324253
+
5'UTR
403 .. 403
C/T
rs182779372
+
5'UTR
404 .. 404
G/A
rs187692774
+
5'UTR
466 .. 466
G/A
rs193250427
+
5'UTR
548 .. 548
A/T
rs72758693
+
5'UTR
570 .. 570
C/T
rs145529997
+
5'UTR
612 .. 612
T/C
rs185383882
+
5'UTR
625 .. 625
G/A
rs113452228
+
5'UTR
637 .. 637
C/T
rs189414759
+
5'UTR
645 .. 645
A/G
rs148844221
+
5'UTR
647 .. 647
C/T
rs142535232
+
5'UTR
682 .. 682
C/A
rs182018909
+
5'UTR
764 .. 764
C/T
rs139610210
+
5'UTR
871 .. 871
G/A
rs12730465
+
5'UTR
1015 .. 1015
A/G
rs199604256
+
CDS
Nonsynonymous[Met1Val]
1025 .. 1025
T/A
rs202075418
+
CDS
Nonsynonymous[Ile4Lys]
1049 .. 1049
C/T
rs200052870
+
CDS
Nonsynonymous[Ala12Val]
1064 .. 1064
A/G
rs150221608
+
CDS
Nonsynonymous[Lys17Arg]
1076 .. 1076
C/T
rs142184584
+
CDS
Nonsynonymous[Ala21Val]
1077 .. 1077
G/A
rs11549709
+
CDS
Synonymous[Ala21Ala]
1081 .. 1081
G/A
rs35582308
+
CDS
Nonsynonymous[Val23Met]
1092 .. 1092
C/T
rs150541057
+
CDS
Synonymous[His26His]
1110 .. 1110
C/T
rs199919057
+
CDS
Synonymous[Ile32Ile]
1114 .. 1114
G/A
rs142125927
+
CDS
Nonsynonymous[Gly34Arg]
1131 .. 1131
G/A
rs11549708
+
CDS
Synonymous[Ala39Ala]
1151 .. 1151
C/T
rs187123516
+
CDS
Nonsynonymous[Thr46Met]
1185 .. 1185
G/C
rs200123840
+
CDS
Nonsynonymous[Lys57Asn]
1245 .. 1245
G/A
rs201037948
+
CDS
Synonymous[Gly77Gly]
1252 .. 1252
C/T
rs76249490
+
CDS
Nonsynonymous[His80Tyr]
1254 .. 1254
C/T
rs113667144
+
CDS
Synonymous[His80His]
1255 .. 1255
T/C
rs200349511
+
CDS
Nonsynonymous[Phe81Leu]
1269 .. 1269
T/G
rs2297411
+
CDS
Nonsynonymous[His85Gln]
1271 .. 1271
C/T
rs150377969
+
CDS
Nonsynonymous[Ala86Val]
1272 .. 1272
A/C
rs137872711
+
CDS
Synonymous[Ala86Ala]
1273 .. 1273
G/A
rs138572539
+
CDS
Nonsynonymous[Ala87Thr]
1277 .. 1277
G/T
rs141687205
+
CDS
Nonsynonymous[Gly88Val]
1305 .. 1305
C/T
rs111529228
+
CDS
Synonymous[Ser97Ser]
1306 .. 1306
G/T
rs200000374
+
CDS
Nonsynonymous[Ala98Ser]
1312 .. 1312
G/T
rs150696959
+
CDS
Nonsynonymous[Asp100Tyr]
1339 .. 1339
C/G
rs201479287
+
CDS
Nonsynonymous[His109Asp]
1349 .. 1349
G/A
rs147889685
+
CDS
Nonsynonymous[Ser112Asn]
1398 .. 1398
C/T
rs139970507
+
CDS
Synonymous[Ala128Ala]
1416 .. 1416
C/T
rs200182503
+
CDS
Synonymous[Ala134Ala]
1481 .. 1481
T/C
rs147812454
+
CDS
Nonsynonymous[Met156Thr]
1486 .. 1486
T/C
rs142652509
+
CDS
Nonsynonymous[Phe158Leu]
1535 .. 1535
C/A
rs181579601
+
CDS
Nonsynonymous[Thr174Lys]
1539 .. 1539
C/T
rs201787750
+
CDS
Synonymous[Ala175Ala]
1578 .. 1578
C/T
rs140897240
+
CDS
Synonymous[Pro188Pro]
1601 .. 1601
C/T
rs200762439
+
CDS
Nonsynonymous[Thr196Met]
1608 .. 1608
C/T
rs138547552
+
CDS
Synonymous[Ser198Ser]
1615 .. 1615
G/T
rs188599627
+
CDS
Nonsynonymous[Ala201Ser]
1619 .. 1619
G/A
rs145350362
+
CDS
Nonsynonymous[Arg202Gln]
1625 .. 1625
G/A
rs200541514
+
CDS
Nonsynonymous[Arg204Gln]
1632 .. 1632
G/A
rs115855910
+
CDS
Synonymous[Val206Val]
1651 .. 1651
C/T
rs119468005
+
CDS
Nonsynonymous[Arg213Trp]
1693 .. 1693
G/A
rs199694417
+
CDS
Nonsynonymous[Gly227Arg]
1737 .. 1737
C/-
rs35757883
+
CDS
1744 .. 1744
G/C
rs199619932
+
CDS
Nonsynonymous[Gly244Arg]
1756 .. 1756
G/A
rs148376283
+
CDS
Nonsynonymous[Val248Met]
1759 .. 1759
C/T
rs199958142
+
CDS
Synonymous[Leu249Leu]
1794 .. 1794
A/G
rs147447166
+
CDS
Synonymous[Ala260Ala]
1799 .. 1799
G/A
rs145422777
+
CDS
Nonsynonymous[Arg262Gln]
1808 .. 1808
G/A
rs199696414
+
CDS
Nonsynonymous[Arg265His]
1811 .. 1811
C/T
rs149924675
+
CDS
Nonsynonymous[Thr266Met]
1825 .. 1825
C/T
rs145034527
+
CDS
Nonsynonymous[Arg271Cys]
1829 .. 1829
G/A/T
rs119468006
+
CDS
1868 .. 1868
A/C
rs143493998
+
CDS
Nonsynonymous[Asp285Ala]
1887 .. 1887
C/T
rs200849486
+
CDS
Synonymous[Pro291Pro]
1890 .. 1890
C/G
rs200155917
+
CDS
Nonsynonymous[His292Gln]
1905 .. 1905
C/T
rs55968053
+
CDS
Synonymous[Phe297Phe]
1909 .. 1909
C/T
rs201908721
+
CDS
Nonsynonymous[Arg299Trp]
1915 .. 1915
C/T
rs140246430
+
CDS
Nonsynonymous[Arg301Trp]
1923 .. 1923
C/T
rs202036077
+
CDS
Synonymous[Ser303Ser]
1962 .. 1962
C/T
rs55637780
+
CDS
Synonymous[Leu316Leu]
2003 .. 2003
A/G
rs150243147
+
CDS
Nonsynonymous[Tyr330Cys]
2005 .. 2005
T/C
rs201334858
+
CDS
Nonsynonymous[Phe331Leu]
2007 .. 2007
C/T
rs41303129
+
CDS
Synonymous[Phe331Phe]
2023 .. 2023
G/A
rs143816043
+
CDS
Nonsynonymous[Ala337Thr]
2025 .. 2025
C/T
rs36006006
+
CDS
Synonymous[Ala337Ala]
2034 .. 2034
C/T
rs181558991
+
CDS
Synonymous[Ser340Ser]
2036 .. 2036
T/C
rs55798516
+
CDS
Nonsynonymous[Ile341Thr]
2067 .. 2067
C/T
rs55958233
+
CDS
Synonymous[Gly351Gly]
2103 .. 2103
C/T
rs139570869
+
CDS
Synonymous[Gly363Gly]
2122 .. 2122
A/G
rs180784380
+
CDS
Nonsynonymous[Ser370Gly]
2134 .. 2134
A/C
rs146751657
+
CDS
Nonsynonymous[Asn374His]
2199 .. 2199
C/T
rs17849927
+
CDS
Synonymous[Ile395Ile]
2202 .. 2202
C/T
rs139133094
+
CDS
Synonymous[Asp396Asp]
2207 .. 2207
T/C
rs199921339
+
CDS
Nonsynonymous[Leu398Pro]
2229 .. 2229
G/A
rs149048093
+
CDS
Synonymous[Glu405Glu]
2260 .. 2260
C/T
rs151292389
+
3'UTR
2265 .. 2265
G/A
rs202227926
+
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
SVA_A
303
515
+
AluSx
516
538
-
AluSq2
565
669
-
AluSx
700
822
-
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;