H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
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Definition*
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---
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H-Invitational ID:
HIT000032262
Accession number:
BC005171
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
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
Transcript original information
Accession number
BC005171.2
CAGE tag ID
NA
EST ID
NA
Clone Number
MGC:4849 IMAGE:3604948
Experimental resources
NBRC
;
HGPD
;
Antibody (ADCK3)
;
Catalog (ADCK3)
;
Sequence data provider
Provider:
MGC/NCI
;
Annotation project
H-Invitational FLcDNA
Length of cDNA
2913[bp] (No. of exon:15)[A:655 T:586 G:856 C:816]
Devision
HUM
Molecular type
mRNA
Library origin
Cell type
NA
Tissue type
Uterus, endometrium adenocarcinoma
Develpmental stage
NA
Sequence quality information
CDS feature
Complete CDS
Kozak sequence
NA
PolyA
Site: 2872(+) Signal: 2849-2853(+)
Vector/adapter sequence
NA
Frame shift
NA
Remaining intron
NA
Splice site acceptor (NAGNAG)
NA
Transcript quality feature
NA
Notes
NA
GTTGGTAAACAGATCCGGAGCGCGTGGCGGGCGTCAGCGCGGTGGCCAGC GCGCAGAGGCGGGCGCGGAGGCGGCTAGAAGGTGACCGCGGATCCCAGCT TCCTGCAGCCAGCCCTGAAGGATGGCTGCCATATTGGGAGACACCATCAT GGTGGCTAAAGGCCTTGTCAAGCTGACCCAGGCGGCCGTGGAAACCCACC TGCAGCACTTGGGCATCGGAGGGGAGCTGATCATGGCGGCCAGGGCCCTG CAGTCCACGGCTGTGGAGCAGATTGGCATGTTCTTGGGGAAGGTGCAGGG TCAGGATAAACATGAAGAATATTTTGCTGAGAACTTCGGCGGCCCAGAAG GGGAGTTCCACTTCTCAGTCCCGCATGCAGCCGGAGCCTCCACAGACTTC TCTTCAGCCTCCGCTCCCGACCAGTCAGCGCCCCCATCCCTGGGTCATGC CCACAGCGAGGGCCCAGCTCCTGCCTACGTGGCCAGTGGACCCTTTAGAG AAGCCGGGTTCCCCGGCCAGGCCTCCTCCCCTCTGGGCAGGGCCAACGGG AGGCTCTTTGCAAACCCCAGAGACTCATTCTCTGCCATGGGCTTTCAGCG AAGGTTCTTCCACCAGGACCAATCCCCTGTTGGGGGCCTCACAGCCGAGG ACATTGAGAAGGCCCGGCAGGCTAAGGCTCGCCCCGAGAACAAGCAGCAC AAACAGACGCTCAGCGAGCATGCCCGGGAGCGGAAGGTGCCTGTGACGAG GATTGGCCGGCTGGCCAACTTCGGAGGTCTGGCCGTGGGCCTGGGCTTCG GGGCACTGGCAGAGGTCGCCAAGAAGAGCCTGCGCTCCGAGGACCCCTCA GGGAAGAAGGCCGTGCTGGGTTCCAGTCCTTTCCTGTCCGAGGCCAATGC AGAGCGGATCGTGCGCACGCTCTGCAAGGTGCGTGGTGCGGCACTCAAGC TGGGCCAGATGCTGAGCATCCAGGATGATGCCTTTATCAACCCCCACCTG GCTAAGATCTTCGAGCGGGTGCGGCAGAGCGCGGACTTCATGCCACTGAA GCAGATGATGAAAACTCTCAACAACGACCTGGGCCCCAACTGGCGGGACA AGTTGGAATACTTCGAGGAGCGGCCCTTCGCCGCCGCATCCATTGGGCAG GTGCACTTGGCCCGAATGAAGGGCGGCCGCGAGGTGGCCATGAAGATCCA GTACCCTGGCGTGGCCCAGAGCATCAACAGTGATGTCAACAACCTCATGG CCGTGTTGAACATGAGCAACATGCTTCCAGAAGGCCTGTTCCCCGAGCAC CTGATTGACGTGCTGAGGCGGGAGCTGGCCCTGGAGTGTGACTACCAGCG AGAGGCCGCCTGTGCCCGCAAGTTCAGGGACCTGCTGAAGGGCCACCCCT TCTTCTATGTGCCTGAGATTGTGGATGAGCTCTGCAGCCCACATGTGCTG ACCACAGAGCTGGTGTCTGGCTTCCCCCTGGACCAGGCCGAAGGGCTCAG CCAGGAGATTCGGAACGAGATCTGCTACAACATCCTGGTTCTGTGCCTGA GGGAGCTGTTCGAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAAC TTCTTCTATGACCCCCAGCAGCACAAGGTGGCTCTTTTGGATTTTGGGGC AACGCGGGAATATGACAGATCCTTCACCGACCTCTACATTCAGATCATCA GGGCTGCTGCCGACAGGGACAGGGAGACTGTGCGGGCGAAATCCATAGAG ATGAAGTTCCTCACCGGCTACGAGGTCAAGGTCATGGAAGACGCCCACTT GGATGCCATCCTCATCCTGGGGGAGGCCTTCGCCTCTGATGAGCCTTTTG ATTTTGGCACTCAGAGCACCACCGAGAAGATCCACAACCTGATTCCCGTC ATGCTGAGGCACCGTCTCGTCCCCCCACCCGAGGAAACCTACTCCCTGCA CAGGAAGATGGGGGGCTCCTTCCTCATCTGCTCCAAGCTGAAGGCCCGCT TCCCCTGCAAGGCCATGTTCGAGGAGGCCTACAGCAACTACTGCAAGAGG CAGGCCCAGCAGTAGGGCTGCGGGCCACGCCCAGGCCGGCTCCGCGGGAA CTCTCTCCCTCAGACAGGCCAAAAACCAGTAGCGAGGTCGTGGTGATGCT CTTTTTAACTCCTTTGCCCAATAAGGGGGGTGGCTGCCTGGAGCCCCGTA GCCAGCGCTTTCCACGGTTTCTGTTGCTAAATGGTTGTAGGGTGAGAAGT GCAAGAATGAAGATGAAGCCCCACTGCTCGGTCAGTCTGCCTCCGTGTGT CCTCTGAAATAAGCAGATGAAGATGAAAGGGCAACTTTGTTTTCTTCTTT TTCCTGATGTGAATGTTAAGCAGAAGGGAGAGAGTCCTTACTCCCTTCCA ATCTCTGTTCAGTGCAAAACCCAGAAACATGAACAGATACGATTGTGGGA TTTTATCATCTGTGTAGTAGGTGTGTGTATGTGTTTCTAGAGTGAGATTT GTGTTTTCTGCCCTTTTCCTCTCCAGCCAATGGGCTGGAGCTGGGAGAGG TGCTGAGCTAACAGTGCCAACAAGTGCTCCTTAAGCCTGCGAGGCCCAGG CCTGTGGGGCTGGTTCTCACCTTTGACAGCTGAATGTTCCTAAAGAACTG CTGCCCCACAGTGAGGGTGGGAGCAGCGGAACAGGGAATGCCAGACACAG GCTCGCTGCTGCTGGAAGGCGGGGTGGGACTTCCTTCCTCTGTCCGGAGA GGCACAGGTGTCACCAGTTCCAGCCAAAGGCTCCTCACAGGCGCTGTGAA TTTTTGTACAAGTCTTGTAATTATCGAATCAACAACTTGTTTCAATTTAA TAAAAATGCTCATGGGAAGTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA
Gene structure information
H-Inv cluster ID
HIX0001648
Genomic location
Chromosome
1
Location
1q42.13
Position
227127989- 227175244
Strand
+
Possible duplicated location(s)
NA
Gene structure
15 exon(s)
Database links
RefSeq
NA
Ensembl
NA
Entrez Gene
Entrez Gene ID:56997
;
KEGG GENES
KEGG GENES(56997)
;
GeneCard
ADCK3
;
*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links
H-DBAS
;
G-integra
;
cDNA-genome alignment
;
Predicted CDS information
HIP ID
HIP000022505
Predicted CDS
122..2065; 647[aa]; Orientation:+2;
Codon Adaptation Index (CAI).
0.859
Database links
RefSeq
NP_064632
;
UniProt
Q8NI60
;
CCDS
CCDS1557
;
MAAILGDTIMVAKGLVKLTQAAVETHLQHLGIGGELIMAARALQSTAVEQ IGMFLGKVQGQDKHEEYFAENFGGPEGEFHFSVPHAAGASTDFSSASAPD QSAPPSLGHAHSEGPAPAYVASGPFREAGFPGQASSPLGRANGRLFANPR DSFSAMGFQRRFFHQDQSPVGGLTAEDIEKARQAKARPENKQHKQTLSEH ARERKVPVTRIGRLANFGGLAVGLGFGALAEVAKKSLRSEDPSGKKAVLG SSPFLSEANAERIVRTLCKVRGAALKLGQMLSIQDDAFINPHLAKIFERV RQSADFMPLKQMMKTLNNDLGPNWRDKLEYFEERPFAAASIGQVHLARMK GGREVAMKIQYPGVAQSINSDVNNLMAVLNMSNMLPEGLFPEHLIDVLRR ELALECDYQREAACARKFRDLLKGHPFFYVPEIVDELCSPHVLTTELVSG FPLDQAEGLSQEIRNEICYNILVLCLRELFEFHFMQTDPNWSNFFYDPQQ HKVALLDFGATREYDRSFTDLYIQIIRAAADRDRETVRAKSIEMKFLTGY EVKVMEDAHLDAILILGEAFASDEPFDFGTQSTTEKIHNLIPVMLRHRLV PPPEETYSLHRKMGGSFLICSKLKARFPCKAMFEEAYSNYCKRQAQQ*
Motif information
a.a.
length
InterPro
Name
50
IPR011009
Protein kinase-like domain [Domain]
115
IPR004147
UbiB domain [Domain]
127
IPR011009
Protein kinase-like domain [Domain]
Gene function information
H-Inv ID
HIT000032262
H-Inv cluster ID
HIX0001648
Accession number
BC005171.2
CAGE tag ID
NA
EST ID
NA
Transcript feature
Representative transcript;
Splicing isoform
Coding potential
Protein coding;
Definition
Chaperone activity of bc1 complex-like, mitochondrial; Chaperone-ABC1-like; EC=2.7.11.-; aarF domain-containing protein kinase 3; Precursor;
Similarity category
Category: Identical to known human protein(Category I).
Identical to known human protein (
Q8NI60
) [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence
Protein evidence
PubMed ID
11888884
;
14702039
;
15489334
;
15498874
;
16710414
;
17344846
;
17974005
;
18319072
;
18319074
;
21269460
;
ALL
;
Gene family/group
H-Inv gene family/group ID
NA
Gene family/group name
NA
Evidence motif (InterPro) ID
NA
Gene symbol/name
HGNC symbol
ADCK3
HGNC aliases
"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"
HGNC name
aarF domain containing kinase 3
DDBJ
CABC1
UniProt
ADCK3
EC number
EC 2.7.11.-
Protein-serine/threonine kinases;
GGDB
(GlycoGene Database)
Gene symbol
NA
Familly
NA
Designation
NA
Expression
NA
KEGG metabolic pathway
NA
Protein-protein interaction (PPI)
H-Inv protein ID
HIP000022505
No. of interaction
23
Interaction partner(s)
HIP000021385
;
HIP000023960
;
HIP000026585
;
HIP000026585
;
HIP000036366
;
HIP000048821
;
HIP000053966
;
HIP000054822
;
HIP000058896
;
HIP000059460
;
HIP000074321
;
HIP000075289
;
HIP000076337
;
HIP000084466
;
HIP000096767
;
HIP000097392
;
HIP000100543
;
HIP000114585
;
HIP000116926
;
HIP000138121
;
HIP000249412
;
HIP000335321
;
HIP000435860
;
BIND
NA
DIP
116837E;
MINT
MINT-66678; MINT-8079030;
HPRD
02202; 05375;
IntAct
NA
Database links
RefSeq
NA
Ensembl
NA
Entrez Gene
Entrez Gene ID:56997
;
KEGG GENES
KEGG GENES(56997)
;
GeneCard
ADCK3
;
*GeneCards is provided free to academic non-profit institutions.
etc
Human-Gene diversity Of Life-style related Diseases
;
Curation status
Human curated
Notes
NA
Related H-InvDB links
Gene family;
Similarity Search Tool
;
TACT
;
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome.
FR ID
FR306988
Accession
Description
Location
PMID
Gene ontology information
Molecular function
transferase activity, transferring phosphorus-containing groups (
GO:0016772
);
Subcellular localization information
Last modified:27-May-2015
WoLF PSORT
mitochondria; cytosol; peroxisome; Other;
Target P
Not predicted
SOSUI
soluble protein
TMHMM
soluble protein
PTS1
Not targeted
Related H-InvDB links
LIFEdb;
JRE-1.4.0 or later is required.
Download JRE at
Sun's web site.
Protein structure information (GTOP)
Last modified:27-May-2015
Start
End
PDB_ID
E-value
Identity
Coverage
SCOP_ID
267
323
1y74A1
7e-22
17.5
57/57
a.194.1.1
315
597
1zylA1
3e-14
10.5
277/325
d.144.1.6
Related H-InvDB links
GTOP
Gene expression information
Last modified:27-May-2015
Tissue-specific expression
NA
Probe
information
AceGene
AGhsA241008;
Affymetrix
GeneChip
HG-Focus
NA
HG-U133
218168_s_at; 222542_x_at;
HG-U133A
218168_s_at;
HG-U133A_2
218168_s_at;
HG-U133B
222542_x_at;
HG-U133_Plus_2
218168_s_at; 222542_x_at;
HG-U95
45334_at; 64312_at;
HG-U95A
NA
HG-U95B
45334_at;
HG-U95C
64312_at;
HG-U95D
NA
HG-U95E
NA
HG-U95Av2
NA
HuEx-1_0
2383379; 2383389; 2383390; 2383391; 2383392; 2383393; 2383394; 2383395; 2383396; 2383404; 2383407; 2383409; 2383411; 2383413; 2383416; 2383419; 2383420; 2383421; 2383422; 2383424; 2383425; 2459040;
HuGeneFL
NA
Agilent
Human 1A Oligo Microarray:PGID215
A_23_P85593;
Whole Human Genome Oligo Microarray:PGID247
A_23_P85598;
Related H-InvDB links
H-ANGEL
;
DNAProbeLocator
;
Evolutionary information
Last modified:27-May-2015
Relationship
Species
Accession number
MGI
Links
Orthology
Mus sp.
(Mouse)
AK014605
MGI:1896736
G-integra
Orthology
Danio sp.
(Zebrafish)
BC076083
G-integra
Orthology
Rattus sp.
(Rat)
BC091388
G-integra
Orthology
Bos sp.
(Cow)
BC114164
G-integra
Orthology
Equus sp.
(Horse)
ENSECAT00000021587
G-integra
Orthology
Macaca sp.
(Macaque)
ENSMMUT00000012079
G-integra
Orthology
Monodelphis sp.
(Opossum)
ENSMODT00000036703
G-integra
Orthology
Oryzias sp.
(Medaka)
ENSORLT00000021446
G-integra
Orthology
Pongo sp.
(Orangutan)
ENSPPYT00000000170
G-integra
Orthology
Tetraodon sp.
(Tetraodon)
GSTENT00035765001
G-integra
Orthology
Takifugu sp.
(Fugu)
SINFRUT00000143815
G-integra
Orthology
Gallus sp.
(Chicken)
XM_415040
G-integra
Orthology
Pan sp.
(Chimpanzee)
XM_514248
G-integra
Orthology
Canis sp.
(Dog)
XM_537230
G-integra
Orthology
Danio sp.
(Zebrafish)
XM_693745
G-integra
Phylogenetic tree [View by
ATV]
Neighbor-joining (phb)
Related H-InvDB links
Evola
;
d
N
/
d
S
(under constraction);
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
122 .. 122
A/G
rs199604256
+
CDS
Nonsynonymous[Met1Val]
132 .. 132
T/A
rs202075418
+
CDS
Nonsynonymous[Ile4Lys]
156 .. 156
C/T
rs200052870
+
CDS
Nonsynonymous[Ala12Val]
171 .. 171
A/G
rs150221608
+
CDS
Nonsynonymous[Lys17Arg]
183 .. 183
C/T
rs142184584
+
CDS
Nonsynonymous[Ala21Val]
184 .. 184
G/A
rs11549709
+
CDS
Synonymous[Ala21Ala]
188 .. 188
G/A
rs35582308
+
CDS
Nonsynonymous[Val23Met]
199 .. 199
C/T
rs150541057
+
CDS
Synonymous[His26His]
217 .. 217
C/T
rs199919057
+
CDS
Synonymous[Ile32Ile]
221 .. 221
G/A
rs142125927
+
CDS
Nonsynonymous[Gly34Arg]
238 .. 238
G/A
rs11549708
+
CDS
Synonymous[Ala39Ala]
258 .. 258
C/T
rs187123516
+
CDS
Nonsynonymous[Thr46Met]
292 .. 292
G/C
rs200123840
+
CDS
Nonsynonymous[Lys57Asn]
352 .. 352
G/A
rs201037948
+
CDS
Synonymous[Gly77Gly]
359 .. 359
C/T
rs76249490
+
CDS
Nonsynonymous[His80Tyr]
361 .. 361
C/T
rs113667144
+
CDS
Synonymous[His80His]
362 .. 362
T/C
rs200349511
+
CDS
Nonsynonymous[Phe81Leu]
376 .. 376
T/G
rs2297411
+
CDS
Nonsynonymous[His85Gln]
378 .. 378
C/T
rs150377969
+
CDS
Nonsynonymous[Ala86Val]
379 .. 379
A/C
rs137872711
+
CDS
Synonymous[Ala86Ala]
380 .. 380
G/A
rs138572539
+
CDS
Nonsynonymous[Ala87Thr]
384 .. 384
G/T
rs141687205
+
CDS
Nonsynonymous[Gly88Val]
412 .. 412
C/T
rs111529228
+
CDS
Synonymous[Ser97Ser]
413 .. 413
G/T
rs200000374
+
CDS
Nonsynonymous[Ala98Ser]
419 .. 419
G/T
rs150696959
+
CDS
Nonsynonymous[Asp100Tyr]
446 .. 446
C/G
rs201479287
+
CDS
Nonsynonymous[His109Asp]
456 .. 456
G/A
rs147889685
+
CDS
Nonsynonymous[Ser112Asn]
505 .. 505
C/T
rs139970507
+
CDS
Synonymous[Ala128Ala]
523 .. 523
C/T
rs200182503
+
CDS
Synonymous[Ala134Ala]
588 .. 588
T/C
rs147812454
+
CDS
Nonsynonymous[Met156Thr]
593 .. 593
T/C
rs142652509
+
CDS
Nonsynonymous[Phe158Leu]
642 .. 642
C/A
rs181579601
+
CDS
Nonsynonymous[Thr174Lys]
646 .. 646
C/T
rs201787750
+
CDS
Synonymous[Ala175Ala]
685 .. 685
C/T
rs140897240
+
CDS
Synonymous[Pro188Pro]
708 .. 708
C/T
rs200762439
+
CDS
Nonsynonymous[Thr196Met]
715 .. 715
C/T
rs138547552
+
CDS
Synonymous[Ser198Ser]
722 .. 722
G/T
rs188599627
+
CDS
Nonsynonymous[Ala201Ser]
726 .. 726
G/A
rs145350362
+
CDS
Nonsynonymous[Arg202Gln]
732 .. 732
G/A
rs200541514
+
CDS
Nonsynonymous[Arg204Gln]
739 .. 739
G/A
rs115855910
+
CDS
Synonymous[Val206Val]
758 .. 758
C/T
rs119468005
+
CDS
Nonsynonymous[Arg213Trp]
800 .. 800
G/A
rs199694417
+
CDS
Nonsynonymous[Gly227Arg]
844 .. 844
C/-
rs35757883
+
CDS
851 .. 851
G/C
rs199619932
+
CDS
Nonsynonymous[Gly244Arg]
863 .. 863
G/A
rs148376283
+
CDS
Nonsynonymous[Val248Met]
866 .. 866
C/T
rs199958142
+
CDS
Synonymous[Leu249Leu]
901 .. 901
A/G
rs147447166
+
CDS
Synonymous[Ala260Ala]
906 .. 906
G/A
rs145422777
+
CDS
Nonsynonymous[Arg262Gln]
915 .. 915
G/A
rs199696414
+
CDS
Nonsynonymous[Arg265His]
918 .. 918
C/T
rs149924675
+
CDS
Nonsynonymous[Thr266Met]
932 .. 932
C/T
rs145034527
+
CDS
Nonsynonymous[Arg271Cys]
936 .. 936
G/A/T
rs119468006
+
CDS
975 .. 975
A/C
rs143493998
+
CDS
Nonsynonymous[Asp285Ala]
994 .. 994
C/T
rs200849486
+
CDS
Synonymous[Pro291Pro]
997 .. 997
C/G
rs200155917
+
CDS
Nonsynonymous[His292Gln]
1012 .. 1012
C/T
rs55968053
+
CDS
Synonymous[Phe297Phe]
1016 .. 1016
C/T
rs201908721
+
CDS
Nonsynonymous[Arg299Trp]
1022 .. 1022
C/T
rs140246430
+
CDS
Nonsynonymous[Arg301Trp]
1030 .. 1030
C/T
rs202036077
+
CDS
Synonymous[Ser303Ser]
1069 .. 1069
C/T
rs55637780
+
CDS
Synonymous[Leu316Leu]
1110 .. 1110
A/G
rs150243147
+
CDS
Nonsynonymous[Tyr330Cys]
1112 .. 1112
T/C
rs201334858
+
CDS
Nonsynonymous[Phe331Leu]
1114 .. 1114
C/T
rs41303129
+
CDS
Synonymous[Phe331Phe]
1130 .. 1130
G/A
rs143816043
+
CDS
Nonsynonymous[Ala337Thr]
1132 .. 1132
C/T
rs36006006
+
CDS
Synonymous[Ala337Ala]
1141 .. 1141
C/T
rs181558991
+
CDS
Synonymous[Ser340Ser]
1143 .. 1143
T/C
rs55798516
+
CDS
Nonsynonymous[Ile341Thr]
1174 .. 1174
C/T
rs55958233
+
CDS
Synonymous[Gly351Gly]
1210 .. 1210
C/T
rs139570869
+
CDS
Synonymous[Gly363Gly]
1229 .. 1229
A/G
rs180784380
+
CDS
Nonsynonymous[Ser370Gly]
1241 .. 1241
A/C
rs146751657
+
CDS
Nonsynonymous[Asn374His]
1306 .. 1306
T/C
rs17849927
+
CDS
Synonymous[Ile395Ile]
1309 .. 1309
C/T
rs139133094
+
CDS
Synonymous[Asp396Asp]
1314 .. 1314
T/C
rs199921339
+
CDS
Nonsynonymous[Leu398Pro]
1336 .. 1336
G/A
rs149048093
+
CDS
Synonymous[Glu405Glu]
1367 .. 1367
C/T
rs151292389
+
CDS
Nonsynonymous[Arg416Cys]
1372 .. 1372
G/A
rs202227926
+
CDS
Synonymous[Lys417Lys]
1379 .. 1379
G/A
rs147097934
+
CDS
Nonsynonymous[Asp420Asn]
1385 .. 1385
C/T
rs200375779
+
CDS
Synonymous[Leu422Leu]
1407 .. 1407
A/G
rs144147839
+
CDS
Nonsynonymous[Tyr429Cys]
1453 .. 1453
C/T
rs138727410
+
CDS
Synonymous[Thr444Thr]
1499 .. 1499
A/G
rs149364914
+
CDS
Nonsynonymous[Ser460Gly]
1511 .. 1511
C/T
rs139900636
+
CDS
Nonsynonymous[Arg464Trp]
1517 .. 1517
G/A
rs201134290
+
CDS
Nonsynonymous[Glu466Lys]
1530 .. 1530
A/G
rs200800365
+
CDS
Nonsynonymous[Asn470Ser]
1543 .. 1543
G/A
rs202132812
+
CDS
Synonymous[Leu474Leu]
1551 .. 1551
G/-
rs34158214
+
CDS
1561 .. 1561
C/T
rs12593
-
CDS
Synonymous[Phe480Phe]
1600 .. 1600
C/A
rs150918577
+
CDS
Nonsynonymous[Asn493Lys]
1654 .. 1654
G/A
rs201337210
+
CDS
Synonymous[Thr511Thr]
1655 .. 1655
C/T
rs149682899
+
CDS
Nonsynonymous[Arg512Trp]
1656 .. 1656
G/A
rs200115323
+
CDS
Nonsynonymous[Arg512Gln]
1662 .. 1662
A/G
rs119468008
+
CDS
Nonsynonymous[Tyr514Cys]
1677 .. 1677
C/G
rs141260985
+
CDS
Nonsynonymous[Thr519Ser]
1688 .. 1688
A/G
rs147730489
+
CDS
Nonsynonymous[Ile523Val]
1712 .. 1712
G/A
rs200930703
+
CDS
Nonsynonymous[Asp531Asn]
1726 .. 1726
G/C
rs201158713
+
CDS
Nonsynonymous[Glu535Asp]
1727 .. 1727
A/G
rs200403220
+
CDS
Nonsynonymous[Thr536Ala]
1731 .. 1731
T/G
rs199724504
+
CDS
Nonsynonymous[Val537Gly]
1733 .. 1733
C/T
rs201331131
+
CDS
Nonsynonymous[Arg538Trp]
1738 .. 1738
G/A
rs142600066
+
CDS
Synonymous[Ala539Ala]
1765 .. 1765
C/T
rs141423403
+
CDS
Synonymous[Thr548Thr]
1766 .. 1766
G/A
rs119468009
+
CDS
Nonsynonymous[Gly549Ser]
1772 .. 1772
G/A
rs119468004
+
CDS
Nonsynonymous[Glu551Lys]
1786 .. 1786
G/A
rs199874519
+
CDS
Nonsynonymous[Met555Ile]
1793 .. 1793
G/A
rs142894121
+
CDS
Nonsynonymous[Ala558Thr]
1798 .. 1798
C/G
rs200963031
+
CDS
Nonsynonymous[His559Gln]
1831 .. 1831
C/T
rs139305619
+
CDS
Synonymous[Phe570Phe]
1837 .. 1837
T/C
rs3738725
+
CDS
Synonymous[Ser572Ser]
1841 .. 1841
G/A
rs202058665
+
CDS
Nonsynonymous[Glu574Lys]
1860 .. 1860
C/T
rs199581236
+
CDS
Nonsynonymous[Thr580Ile]
1873 .. 1873
C/T
rs201865243
+
CDS
Synonymous[Thr584Thr]
1876 .. 1876
G/C
rs201171077
+
CDS
Nonsynonymous[Glu585Asp]
1878 .. 1878
A/G
rs113308613
+
CDS
Nonsynonymous[Lys586Arg]
1886 .. 1886
A/C
rs142051104
+
CDS
Nonsynonymous[Asn589His]
1897 .. 1897
C/T
rs7545723
+
CDS
Synonymous[Pro592Pro]
1918 .. 1918
C/T
rs139551241
+
CDS
Synonymous[Leu599Leu]
1921 .. 1921
C/G
rs74589348
+
CDS
Synonymous[Val600Val]
1926 .. 1926
C/A/G
rs61995958
+
CDS
1937 .. 1937
A/C
rs143650593
+
CDS
Nonsynonymous[Thr606Pro]
1942 .. 1942
C/T
rs201618750
+
CDS
Synonymous[Tyr607Tyr]
1945 .. 1945
C/T
rs141270350
+
CDS
Synonymous[Ser608Ser]
1987 .. 1987
G/A
rs191944347
+
CDS
Synonymous[Lys622Lys]
1997 .. 1997
C/T
rs141725964
+
CDS
Nonsynonymous[Arg626Cys]
2020 .. 2020
C/T
rs150569155
+
CDS
Synonymous[Phe633Phe]
2021 .. 2021
G/A
rs149335528
+
CDS
Nonsynonymous[Glu634Lys]
2035 .. 2035
C/T
rs56043893
+
CDS
Synonymous[Ser638Ser]
2074 .. 2074
G/A
rs200743857
+
3'UTR
2198 .. 2198
G/A
rs149820067
+
3'UTR
2295 .. 2295
G/A
rs117808661
+
3'UTR
2299 .. 2299
G/A
rs188462608
+
3'UTR
2414 .. 2414
G/A
rs113041399
+
3'UTR
2449 .. 2449
G/A
rs113631619
+
3'UTR
2450 .. 2450
A/T
rs112529851
+
3'UTR
2450 ^ 2451
-/T
rs11420839
+
3'UTR
2454 ^ 2455
-/T
rs199664948
+
3'UTR
2508 .. 2508
C/G
rs12567953
+
3'UTR
2529 .. 2529
A/G
rs8159
-
3'UTR
2574 .. 2574
G/A
rs142056615
+
3'UTR
2708 .. 2708
G/A
rs115542970
+
3'UTR
2721 .. 2721
G/A
rs181352749
+
3'UTR
2746 .. 2746
G/A
rs10482
-
3'UTR
2792 .. 2792
C/T
rs16846762
+
3'UTR
2826 .. 2826
G/A
rs145779574
+
3'UTR
2855 .. 2855
A/G
rs12565212
+
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
;