H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
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Definition*
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---
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H-Invitational ID:
HIT000260125
Accession number:
BC060823
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Histone acetyltransferase KAT2B; EC=2.3.1.48; Histone acetyltransferase PCAF; Histone acetylase PCAF; Lysine acetyltransferase 2B; P300/CBP-associated factor; P/CAF;
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
BC060823.1
CAGE tag ID
NA
EST ID
NA
Clone Number
MGC:71679 IMAGE:30336561
Experimental resources
NBRC
;
HGPD
;
Antibody (KAT2B)
;
Catalog (KAT2B)
;
Sequence data provider
NA
Annotation project
NA
Length of cDNA
4443[bp] (No. of exon:18)[A:1381 T:1231 G:928 C:903]
Devision
HUM
Molecular type
mRNA
Library origin
Cell type
NA
Tissue type
Placenta, pre-eclamptic
Develpmental stage
NA
Sequence quality information
CDS feature
Complete CDS
Kozak sequence
NA
PolyA
Site: 4428(+)
Vector/adapter sequence
NA
Frame shift
NA
Remaining intron
NA
Splice site acceptor (NAGNAG)
TAGGAG;
Transcript quality feature
NA
Notes
NA
GGCGGCGGCGGCGCCTGACACTCGGCGCCTCCTGCCGTGCTCCGGGGCGG CATGTCCGAGGCTGGCGGGGCCGGGCCGGGCGGCTGCGGGGCAGGAGCCG GGGCAGGGGCCGGGCCCGGGGCGCTGCCCCCGCAGCCTGCGGCGCTTCCG CCCGCGCCCCCGCAGGGCTCCCCCTGCGCCGCTGCCGCCGGGGGCTCGGG CGCCTGCGGTCCGGCGACGGCAGTGGCTGCAGCGGGCACGGCCGAAGGAC CGGGAGGCGGTGGCTCGGCCCGAATCGCCGTGAAGAAAGCGCAACTACGC TCCGCTCCGCGGGCCAAGAAACTGGAGAAACTCGGAGTGTACTCCGCCTG CAAGGCCGAGGAGTCTTGTAAATGTAATGGCTGGAAAAACCCTAACCCCT CACCCACTCCCCCCAGAGCCGACCTGCAGCAAATAATTGTCAGTCTAACA GAATCCTGTCGGAGTTGTAGCCATGCCCTAGCTGCTCATGTTTCCCACCT GGAGAATGTGTCAGAGGAAGAAATGAACAGACTCCTGGGAATAGTATTGG ATGTGGAATATCTCTTTACCTGTGTCCACAAGGAAGAAGATGCAGATACC AAACAAGTTTATTTCTATCTATTTAAGCTCTTGAGAAAGTCTATTTTACA AAGAGGAAAACCTGTGGTTGAAGGCTCTTTGGAAAAGAAACCCCCATTTG AAAAACCTAGCATTGAACAGGGTGTGAATAACTTTGTGCAGTACAAATTT AGTCACCTGCCAGCAAAAGAAAGGCAAACAATAGTTGAGTTGGCAAAAAT GTTCCTAAACCGCATCAACTATTGGCATCTGGAGGCACCATCTCAACGAA GACTGCGATCTCCCAATGATGATATTTCTGGATACAAAGAGAACTACACA AGGTGGCTGTGTTACTGCAACGTGCCACAGTTCTGCGACAGTCTACCTCG GTACGAAACCACACAGGTGTTTGGGAGAACATTGCTTCGCTCGGTCTTCA CTGTTATGAGGCGACAACTCCTGGAACAAGCAAGACAGGAAAAAGATAAA CTGCCTCTTGAAAAACGAACTCTAATCCTCACTCATTTCCCAAAATTTCT GTCCATGCTAGAAGAAGAAGTATATAGTCAAAACTCTCCCATCTGGGATC AGGATTTTCTCTCAGCCTCTTCCAGAACCAGCCAGCTAGGCATCCAAACA GTTATCAATCCACCTCCTGTGGCTGGGACAATTTCATACAATTCAACCTC ATCTTCCCTTGAGCAGCCAAACGCAGGGAGCAGCAGTCCTGCCTGCAAAG CCTCTTCTGGACTTGAGGCAAACCCAGGAGAAAAGAGGAAAATGACTGAT TCTCATGTTCTGGAGGAGGCCAAGAAACCCCGAGTTATGGGGGATATTCC GATGGAATTAATCAACGAGGTTATGTCTACCATCACGGACCCTGCAGCAA TGCTTGGACCAGAGACCAATTTTCTGTCAGCACACTCGGCCAGGGATGAG GCGGCAAGGTTGGAAGAGCGCAGGGGTGTAATTGAATTTCACGTGGTTGG CAATTCCCTCAACCAGAAACCAAACAAGAAGATCCTGATGTGGCTGGTTG GCCTACAGAACGTTTTCTCCCACCAGCTGCCCCGAATGCCAAAAGAATAC ATCACACGGCTCGTCTTTGACCCGAAACACAAAACCCTTGCTTTAATTAA AGATGGCCGTGTTATTGGTGGTATCTGTTTCCGTATGTTCCCATCTCAAG GATTCACAGAGATTGTCTTCTGTGCTGTAACCTCAAATGAGCAAGTCAAG GGCTATGGAACACACCTGATGAATCATTTGAAAGAATATCACATAAAGCA TGACATCCTGAACTTCCTCACATATGCAGATGAATATGCAATTGGATACT TTAAGAAACAGGGTTTCTCCAAAGAAATTAAAATACCTAAAACCAAATAT GTTGGCTATATCAAGGATTATGAAGGAGCCACTTTAATGGGATGTGAGCT AAATCCACGGATCCCGTACACAGAATTTTCTGTCATCATTAAAAAGCAGA AGGAGATAATTAAAAAACTGATTGAAAGAAAACAGGCACAAATTCGAAAA GTTTACCCTGGACTTTCATGTTTTAAAGATGGAGTTCGACAGATTCCTAT AGAAAGCATTCCTGGAATTAGAGAGACAGGCTGGAAACCGAGTGGAAAAG AGAAAAGTAAAGAGCCCAGAGACCCTGACCAGCTTTACAGCACGCTCAAG AGCATCCTCCAGCAGGTGAAGAGCCATCAAAGCGCTTGGCCCTTCATGGA ACCTGTGAAGAGAACAGAAGCTCCAGGATATTATGAAGTTATAAGGTTCC CCATGGATCTGAAAACCATGAGTGAACGCCTCAAGAATAGGTACTACGTG TCTAAGAAATTATTCATGGCAGACTTACAGCGAGTCTTTACCAATTGCAA AGAGTACAACCCCCCTGAGAGTGAATACTACAAATGTGCCAATATCCTGG AGAAATTCTTCTTCAGTAAAATTAAGGAAGCTGGATTAATTGACAAGTGA TTTTTTTTCCCCTCTGCTTCTTAGAAACTCACCAAGCAGTGTGCCTAAAG CAAGGTGGTTTAGTTTTTTACAAAGAATTGGACATGATGTATTGAAGAGA CTTGTAAATGTAATAATTAGCACTTTTGAAAAAACAAAAAACCTCCTTTT AGCTTTTCAGATATGTATTTAAATTGAAGTCATAGGACATTTTTATTTTA TGGAATAGATTTTAATCTATTTACTACTATTAAGGTAAATTTTCTATGGC ATGTCCATTAGCTATTTCATGATAGATGATTAGGGGTTTCCTCAAAACCT GTGTGTGAGGAAATTGCACACAGTAGCAAAATTTGGGGAAATCCATAACA TTTTCAGACCATGAATGAATGTTTCCATTTTTTTCTAATGGAATGTGAGA GTTTACTTTTATTTTATTCTGAAGGACTTTAAGGAAGGGATACATGATTT TAAAAAAGCCTGTAAGAGGTGAAATATGTGATGTTTGAAGTCTCTTTATA GACTTTTTATATATATTTTTTAAAACACTCATCTAGATGAGGTGCTTTGA GCAGTTCTGAAAAATGCAGTTCCAGGAAAGCAACTGCTTTGGTTCCTAAG GAAGAAATTCTAAATAATGCAAACTTTTAAAATAAGCATCTAGGTTTTTG ATAATTCTGTCTACTTACAACAAACTTGTTAGTACATAACCACTATTTTA ATAATTATTTTCTCTACACAAATGTGTAATATCATATTTGACTTTGCTTA TGCAGGCCATAAGTTCCAAAAGATAATTTCCCTGCCCACAAAGGCATAAA CTTGAAAACACATGAGATTGAATCAACATGCTTTAATAGGAAAAGATGTA TGGTCTATATATGTATCAATCTGGTGAATCCTCGTTCTAATAAAGGTTCT TTTTCTTTTCTATGATACACACAGCCACGCTGATAATATGCAAATGAACA TTTTCCTTTATGTCTCTCCAGATAATGTTTATTGTCTGAGGTAAATTAAA TTCCCACCAGGGTTTGCTGTCAGTATTTTAACACCCACATTAGTATATGC GTCCAGGGTCATAACCCCCTAAAATCCATCATGCAACCTTATTAATCTGT CTTGGGATTCCAGTTTAGTGCTTGGATTTATTTCCTGATTACACTACATA GAAAAGTGAGACATCTGCCATTCCCAACTCTGGGAAAACCAACTAATATA CAACCATATAAATGAAGGCCATCTTGATGGTCTCAACACTAATTTTTATG ATGCAAATTTATACACTGATTTTTGTAAAGGACAAAGTTTTAAAAGCGTA TTTAACTTGATGTTTTCTATCAGCATAAATAAAATGGTCATGAATAGTCA TTAAAAACAGTTGCCAGTGATAATCTGTATGAAGGAAAAAGAACCCTGCA AATGGCTATTGAGTTGGAAGTATTGTTTTTGATATGTAAGAGATATTCAG AATGCTCACACTGAAAATGCCTCAACTTTTTAAAGTGTAAGAAACCACCA TGAGTGGTGTCTAGATTTCTAATGAAGAATCATGATACAGTTTGGATTAA GTATCTTGGACTGGTTTTAAACAGTGCTTTGTACCGGATCTGCTGAAGCA TCTGTCCAGCTGGTATCCTGTGAAAGTTTGTTATTTTCTGAGTAGACATT CTTATAGAGTATTGTCTTTAAAATCAGATTGTCTCTTCTATATTGAAAGC ATTTTTATGTTTTCTAATTTAAAAATTAATATTTTCTTATAGATATTGTG CAATAAAGCTGAAGTAGAATGTGTGGTTTTTGCAAATGCTTTAACAGCTG ATAAAAATTTTACATTTGTAAAATTAATATATTGTACTGGTACAAAATAG TTTTAAATTATATTTTAAAAAGCTTCCAAAAAAAAAAAAAAAA
Gene structure information
H-Inv cluster ID
HIX0003121
Genomic location
Chromosome
3
Location
3p24.3
Position
20081919- 20195895
Strand
+
Possible duplicated location(s)
NA
Gene structure
18 exon(s)
Database links
RefSeq
NA
Ensembl
NA
Entrez Gene
Entrez Gene ID:8850
;
KEGG GENES
KEGG GENES(8850)
;
GeneCard
KAT2B
;
*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
HIP000096938
Predicted CDS
52..2550; 832[aa]; Orientation:+1;
Codon Adaptation Index (CAI).
0.737
Database links
RefSeq
NP_003875
;
UniProt
Q92831
;
CCDS
CCDS2634
;
MSEAGGAGPGGCGAGAGAGAGPGALPPQPAALPPAPPQGSPCAAAAGGSG ACGPATAVAAAGTAEGPGGGGSARIAVKKAQLRSAPRAKKLEKLGVYSAC KAEESCKCNGWKNPNPSPTPPRADLQQIIVSLTESCRSCSHALAAHVSHL ENVSEEEMNRLLGIVLDVEYLFTCVHKEEDADTKQVYFYLFKLLRKSILQ RGKPVVEGSLEKKPPFEKPSIEQGVNNFVQYKFSHLPAKERQTIVELAKM FLNRINYWHLEAPSQRRLRSPNDDISGYKENYTRWLCYCNVPQFCDSLPR YETTQVFGRTLLRSVFTVMRRQLLEQARQEKDKLPLEKRTLILTHFPKFL SMLEEEVYSQNSPIWDQDFLSASSRTSQLGIQTVINPPPVAGTISYNSTS SSLEQPNAGSSSPACKASSGLEANPGEKRKMTDSHVLEEAKKPRVMGDIP MELINEVMSTITDPAAMLGPETNFLSAHSARDEAARLEERRGVIEFHVVG NSLNQKPNKKILMWLVGLQNVFSHQLPRMPKEYITRLVFDPKHKTLALIK DGRVIGGICFRMFPSQGFTEIVFCAVTSNEQVKGYGTHLMNHLKEYHIKH DILNFLTYADEYAIGYFKKQGFSKEIKIPKTKYVGYIKDYEGATLMGCEL NPRIPYTEFSVIIKKQKEIIKKLIERKQAQIRKVYPGLSCFKDGVRQIPI ESIPGIRETGWKPSGKEKSKEPRDPDQLYSTLKSILQQVKSHQSAWPFME PVKRTEAPGYYEVIRFPMDLKTMSERLKNRYYVSKKLFMADLQRVFTNCK EYNPPESEYYKCANILEKFFFSKIKEAGLIDK*
Motif information
a.a.
length
InterPro
Name
253
IPR009464
PCAF, N-terminal [Domain]
149
IPR000182
GNAT domain [Domain]
145
IPR016181
Acyl-CoA N-acyltransferase [Domain]
145
IPR016181
Acyl-CoA N-acyltransferase [Domain]
82
IPR000182
GNAT domain [Domain]
115
IPR001487
Bromodomain [Domain]
114
IPR001487
Bromodomain [Domain]
109
IPR001487
Bromodomain [Domain]
82
IPR001487
Bromodomain [Domain]
71
IPR001487
Bromodomain [Domain]
14
IPR001487
Bromodomain [Domain]
58
IPR018359
Bromodomain, conserved site [Conserved_site]
17
IPR001487
Bromodomain [Domain]
19
IPR001487
Bromodomain [Domain]
20
IPR001487
Bromodomain [Domain]
Gene function information
H-Inv ID
HIT000260125
H-Inv cluster ID
HIX0003121
Accession number
BC060823.1
CAGE tag ID
NA
EST ID
NA
Transcript feature
NO;
Coding potential
Protein coding;
Definition
Histone acetyltransferase KAT2B; EC=2.3.1.48; Histone acetyltransferase PCAF; Histone acetylase PCAF; Lysine acetyltransferase 2B; P300/CBP-associated factor; P/CAF;
Similarity category
Category: Identical to known human protein(Category I).
Identical to known human protein (
Q92831
) [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence
Protein evidence
PubMed ID
8684459
;
8945521
;
9296499
;
9346901
;
9707565
;
10365964
;
10675335
;
10766811
;
11568182
;
11931765
;
12486002
;
14767476
;
15273251
;
15489334
;
16887930
;
17226766
;
17707232
;
22464331
;
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
KAT2B
HGNC aliases
"p300/CBP-associated factor"
HGNC name
K(lysine) acetyltransferase 2B
DDBJ
KAT2B
UniProt
KAT2B
EC number
EC 2.3.1.48
histone acetyltransferase;
GGDB
(GlycoGene Database)
Gene symbol
NA
Familly
NA
Designation
NA
Expression
NA
KEGG metabolic pathway
01510
:Neurodegenerative Disorders;
04310
:Wnt signaling pathway;
04330
:Notch signaling pathway;
04350
:TGF-beta signaling pathway;
04520
:Adherens junction;
04630
:Jak-STAT signaling pathway;
04720
:Long-term potentiation;
05040
:Huntington's disease;
Protein-protein interaction (PPI)
H-Inv protein ID
HIP000096938
No. of interaction
31
Interaction partner(s)
HIP000027257
;
HIP000027883
;
HIP000028128
;
HIP000028128
;
HIP000036688
;
HIP000037809
;
HIP000039705
;
HIP000039705
;
HIP000046703
;
HIP000046967
;
HIP000054970
;
HIP000064276
;
HIP000065748
;
HIP000068668
;
HIP000070701
;
HIP000072201
;
HIP000072201
;
HIP000080779
;
HIP000084077
;
HIP000086021
;
HIP000092109
;
HIP000100766
;
HIP000101027
;
HIP000101027
;
HIP000104448
;
HIP000106438
;
HIP000106966
;
HIP000131477
;
HIP000161736
;
HIP000204458
;
HIP000213905
;
BIND
145156; 151432; 151708; 196942; 199986; 295233;
DIP
136394E;
MINT
MINT-2632018; MINT-50175; MINT-7299740; MINT-7299749; MINT-7299763; MINT-7299777; MINT-7299797; MINT-7299990; MINT-7300008; MINT-7300181; MINT-7300201; MINT-7300223; MINT-7300243; MINT-7300263; MINT-7300283; MINT-7914936;
HPRD
00019; 00020; 00295; 00307; 00532; 00744; 00800; 00918; 00920; 00961; 00962; 01166; 01230; 01241; 01261; 01310; 01346; 01574; 01753; 01806; 01827; 01859; 02437; 02475; 02534; 02554; 02607; 02765; 02866; 03036; 03082; 03337; 03356; 03374; 03465; 03570; 03584; 03587; 03647; 03807; 03927; 04015; 04061; 04070; 04078; 04155; 04157; 04176; 04253; 05002; 05600; 05620; 06039; 06481; 06769; 07077; 09137; 10377; 11821; 11822; 11906; 11907; 11909; 11912; 11915; 11921; 13626; 13662; 15094; 15972; 15981; 16360;
IntAct
NA
Database links
RefSeq
NA
Ensembl
NA
Entrez Gene
Entrez Gene ID:8850
;
KEGG GENES
KEGG GENES(8850)
;
GeneCard
KAT2B
;
*GeneCards is provided free to academic non-profit institutions.
etc
Human-Gene diversity Of Life-style related Diseases
;
Curation status
Auto-annotated
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.
NA
Gene ontology information
Molecular function
histone acetyltransferase activity (
GO:0004402
); protein binding (
GO:0005515
); N-acetyltransferase activity (
GO:0008080
);
Biological process
regulation of transcription, DNA-dependent (
GO:0006355
);
Cellular component
nucleus (
GO:0005634
);
Subcellular localization information
Last modified:27-May-2015
WoLF PSORT
nuclear; cytosol; cytoskeleton; golgi apparatus;
Target P
Other
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
493
653
1cm0A
1e-36
100.0
161/162
d.108.1.1
712
826
1eqfA1
6e-29
27.0
115/139
a.29.2.1
Related H-InvDB links
GTOP
Gene expression information
Last modified:27-May-2015
Tissue-specific expression
NA
Probe
information
AceGene
AGhsA110803;
Affymetrix
GeneChip
HG-Focus
203845_at;
HG-U133
203845_at;
HG-U133A
203845_at;
HG-U133A_2
203845_at;
HG-U133B
NA
HG-U133_Plus_2
203845_at;
HG-U95
1012_at; 63536_at; 63537_g_at; 63868_at; 69300_at; 75936_at;
HG-U95A
1012_at;
HG-U95B
NA
HG-U95C
63536_at; 63537_g_at; 63868_at;
HG-U95D
NA
HG-U95E
69300_at; 75936_at;
HG-U95Av2
NA
HuEx-1_0
2613443; 2613453; 2613464; 2613465; 2613466; 2613468; 2613469; 2613471; 2613473; 2613474; 2613476; 2613480; 2613481; 2613485; 2613487; 2613488; 2613490; 2613491; 2613492; 2613495; 2613496; 2665565; 2665567; 2665569;
HuGeneFL
U57317_at;
Agilent
Human 1A Oligo Microarray:PGID215
A_23_P41127;
Whole Human Genome Oligo Microarray:PGID247
A_23_P41128; A_32_P159651;
Related H-InvDB links
H-ANGEL
;
DNAProbeLocator
;
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
21 .. 21
C/A
rs111595165
+
5'UTR
203 .. 203
C/G
rs200723262
+
CDS
Nonsynonymous[Ala51Gly]
209 .. 209
G/C
rs113149969
+
CDS
Nonsynonymous[Gly53Ala]
210 .. 210
T/A
rs113171361
+
CDS
Synonymous[Gly53Gly]
236 .. 236
G/A
rs201810024
+
CDS
Nonsynonymous[Gly62Asp]
360 .. 360
G/A
rs3021408
-
CDS
Synonymous[Glu103Glu]
385 .. 385
A/G
rs199589780
+
CDS
Nonsynonymous[Lys112Glu]
413 .. 413
C/A/G
rs200560854
+
CDS
420 .. 420
C/T
rs201922668
+
CDS
Synonymous[Ala123Ala]
617 .. 617
A/G
rs192747064
+
CDS
Nonsynonymous[Tyr189Cys]
621 .. 621
A/C
rs2293143
+
CDS
Synonymous[Leu190Leu]
630 .. 630
C/T
rs35424474
+
CDS
Synonymous[Leu193Leu]
639 .. 639
G/A
rs200387198
+
CDS
Synonymous[Lys196Lys]
643 .. 643
A/G
rs182486173
+
CDS
Nonsynonymous[Ile198Val]
757 .. 757
C/G
rs201795949
+
CDS
Nonsynonymous[Leu236Val]
792 .. 792
G/A
rs148725281
+
CDS
Synonymous[Leu247Leu]
814 .. 814
A/C
rs151336172
+
CDS
Nonsynonymous[Ile255Leu]
818 .. 818
A/G
rs147708206
+
CDS
Nonsynonymous[Asn256Ser]
864 .. 864
C/A
rs201397595
+
CDS
Synonymous[Pro271Pro]
866 .. 866
A/G
rs142082974
+
CDS
Nonsynonymous[Asn272Ser]
873 .. 873
T/C
rs145500471
+
CDS
Synonymous[Asp274Asp]
921 .. 921
C/T
rs9859493
+
CDS
Synonymous[Asn290Asn]
1067 .. 1067
G/A
rs202132144
+
CDS
Nonsynonymous[Arg339Gln]
1079 .. 1079
T/C
rs138650015
+
CDS
Nonsynonymous[Leu343Pro]
1147 .. 1147
G/C
rs199916721
+
CDS
Nonsynonymous[Asp366His]
1204 .. 1204
A/G
rs150650600
+
CDS
Nonsynonymous[Ile385Val]
1208 .. 1208
A/G
rs17006625
+
CDS
Nonsynonymous[Asn386Ser]
1231 .. 1231
A/G
rs145622725
+
CDS
Nonsynonymous[Ile394Val]
1240 .. 1240
A/G
rs147304960
+
CDS
Nonsynonymous[Asn397Asp]
1299 .. 1299
A/C
rs137884855
+
CDS
Nonsynonymous[Lys416Asn]
1343 .. 1343
T/C
rs144806388
+
CDS
Nonsynonymous[Met431Thr]
1352 .. 1352
C/G
rs146721823
+
CDS
Nonsynonymous[Ser434Cys]
1416 .. 1416
C/T
rs149881135
+
CDS
Synonymous[Asn455Asn]
1417 .. 1417
G/A
rs201839892
+
CDS
Nonsynonymous[Glu456Lys]
1436 .. 1436
C/T
rs144875299
+
CDS
Nonsynonymous[Thr462Met]
1450 .. 1450
A/G
rs41285059
+
CDS
Nonsynonymous[Met467Val]
1488 .. 1488
G/A
rs143548388
+
CDS
Synonymous[Ser479Ser]
1556 .. 1556
C/T
rs141445570
+
CDS
Nonsynonymous[Ser502Phe]
1594 .. 1594
C/T
rs201537605
+
CDS
Synonymous[Leu515Leu]
1673 .. 1673
C/T
rs200471371
+
CDS
Nonsynonymous[Pro541Leu]
1733 .. 1733
G/A
rs200572606
+
CDS
Nonsynonymous[Arg561His]
1774 .. 1774
G/A
rs138266237
+
CDS
Nonsynonymous[Ala575Thr]
1848 .. 1848
G/A
rs141010149
+
CDS
Synonymous[Lys599Lys]
2008 .. 2008
C/T
rs116196143
+
CDS
Nonsynonymous[Arg653Trp]
2016 .. 2016
G/A
rs142548774
+
CDS
Synonymous[Pro655Pro]
2075 .. 2075
A/G
rs150952531
+
CDS
Nonsynonymous[Glu675Gly]
2096 .. 2096
G/A
rs200681006
+
CDS
Nonsynonymous[Arg682Gln]
2116 .. 2116
T/A
rs143156951
+
CDS
Nonsynonymous[Ser689Thr]
2133 .. 2133
A/C
rs150351875
+
CDS
Synonymous[Gly694Gly]
2188 .. 2188
C/A
rs148960024
+
CDS
Nonsynonymous[Pro713Thr]
2226 .. 2226
T/C
rs202116411
+
CDS
Synonymous[Pro725Pro]
2243 .. 2243
C/T
rs138379232
+
CDS
Nonsynonymous[Thr731Met]
2330 .. 2330
A/G
rs199925890
+
CDS
Nonsynonymous[Tyr760Cys]
2331 .. 2331
T/A
rs201066836
+
CDS
AA-STOP[Tyr760*]
2345 .. 2345
G/T
rs1138421
+
CDS
Nonsynonymous[Arg765Met]
2382 .. 2382
C/G
rs143874407
+
CDS
Synonymous[Leu777Leu]
2460 .. 2460
C/G/T
rs139361011
+
CDS
2481 .. 2481
C/T
rs150884035
+
CDS
Synonymous[Tyr810Tyr]
2516 .. 2516
G/A
rs149611433
+
CDS
Nonsynonymous[Ser822Asn]
2567 .. 2567
C/T
rs200915849
+
3'UTR
2592 .. 2592
T/C
rs191880040
+
3'UTR
2740 .. 2740
T/C
rs111392228
+
3'UTR
2788 .. 2788
A/G
rs41276509
+
3'UTR
2828 .. 2828
G/A
rs140972380
+
3'UTR
2956 .. 2956
C/T
rs4858770
+
3'UTR
3041 .. 3041
T/A
rs144654473
+
3'UTR
3323 .. 3323
A/T
rs184263350
+
3'UTR
3378 .. 3378
A/T
rs17006672
+
3'UTR
3434 .. 3434
G/A
rs187406655
+
3'UTR
3583 .. 3583
A/G
rs10510499
+
3'UTR
3699 .. 3699
T/A
rs147870914
+
3'UTR
3713 .. 3713
A/G
rs3749184
+
3'UTR
3756 .. 3756
A/G
rs3749185
+
3'UTR
3869 .. 3869
A/G
rs193162300
+
3'UTR
3928 .. 3928
T/C
rs68050031
+
3'UTR
3962 .. 3962
A/C
rs199548798
+
3'UTR
4063 .. 4063
A/G
rs75780220
+
3'UTR
4243 .. 4243
T/A
rs200290890
+
3'UTR
4284 .. 4284
T/A
rs1046039
+
3'UTR
4287 .. 4287
T/A
rs1062974
+
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
;