H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000558224 Accession number: EU852583 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Multidrug resistance protein 1; EC=3.6.3.44; ATP-binding cassette sub-family B member 1; P-glycoprotein 1; AltName: CD_antigen=CD243;
 
 

Transcript original information
Accession number EU852583.1
CAGE tag ID NA
EST ID NA
Clone Number NA
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (ABCB1) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (ABCB1);
Sequence data provider NA
Annotation project NA
Length of cDNA 3843[bp] (No. of exon:27)[A:1130 T:1018 G:955 C:740]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type NA
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA NA
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) TAGAAG; 
Transcript quality feature Truncation; 
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0033521
Genomic location  G-integra Help Chromosome 7
Location 7q21.12
Position 87133559- 87229500
Strand -
Possible duplicated location(s) NA
Gene structure 27 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:5243
KEGG GENES KEGG GENES(5243)
GeneCard GeneCardABCB1*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000041054
Predicted CDS 1..3843;  1280[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.722
Database links RefSeq NP_000918
UniProt P08183
CCDS CCDS5608

Motif information
ORF

length(1280),orf(1:3843)
MDLEGDRNGGAKKKNFFKLNNKSEKDKKEKKPTVSVFSMFRYSNWLDKLY
MVVGTLAAIIHGAGLPLMMLVFGEMTDIFANAGNLEDLMSNITNRSDIND
TGFFMNLEEDMTRYAYYYSGIGAGVLVAAYIQVSFWCLAAGRQIHKIRKQ
FFHAIMRQEIGWFDVHDVGELNTRLTDDVSKINEGIGDKIGMFFQSMATF
FTGFIVGFTRGWKLTLVILAISPVLGLSAAVWAKILSSFTDKELLAYAKA
GAVAEEVLAAIRTVIAFGGQKKELERYNKNLEEAKRIGIKKAITANISIG
AAFLLIYASYALAFWYGTTLVLSGEYSIGQVLTVFFSVLIGAFSVGQASP
SIEAFANARGAAYEIFKIIDNKPSIDSYSKSGHKPDNIKGNLEFRNVHFS
YPSRKEVKILKGLNLKVQSGQTVALVGNSGCGKSTTVQLMQRLYDPTEGM
VSVDGQDIRTINVRFLREIIGVVSQEPVLFATTIAENIRYGRENVTMDEI
EKAVKEANAYDFIMKLPHKFDTLVGERGAQLSGGQKQRIAIARALVRNPK
ILLLDEATSALDTESEAVVQVALDKARKGRTTIVIAHRLSTVRNADVIAG
FDDGVIVEKGNHDELMKEKGIYFKLVTMQTAGNEVELENAADESKSEIDA
LEMSSNDSRSSLIRKRSTRRSVRGSQAQDRKLSTKEALDESIPPVSFWRI
MKLNLTEWPYFVVGVFCAIINGGLQPAFAIIFSKIIGVFTRIDDPETKRQ
NSNLFSLLFLALGIISFITFFLQGFTFGKAGEILTKRLRYMVFRSMLRQD
VSWFDDPKNTTGALTTRLANDAAQVKGAIGSRLAVITQNIANLGTGIIIS
FIYGWQLTLLLLAIVPIIAIAGVVEMKMLSGQALKDKKELEGSGKIATEA
IENFRTVVSLTQEQKFEHMYAQSLQVPYRNSLRKAHIFGITFSFTQAMMY
FSYAGCFRFGAYLVAHKLMSFEDVLLVFSAVVFGAMAVGQVSSFAPDYAK
...
a.a.
length
InterPro Name
length(338), motif(39:376) 338 IPR011527 ABC transporter type 1, transmembrane domain [Domain]
length(306), motif(52:357) 306 IPR011527 ABC transporter type 1, transmembrane domain [Domain]
length(247), motif(383:629) 247 IPR027417 P-loop containing nucleoside triphosphate hydrolase [Domain]
length(233), motif(392:624) 233 IPR027417 P-loop containing nucleoside triphosphate hydrolase [Domain]
length(237), motif(392:628) 237 IPR003439 ABC transporter-like [Domain]
length(150), motif(410:559) 150 IPR003439 ABC transporter-like [Domain]
length(193), motif(419:611) 193 IPR003593 AAA+ ATPase domain [Domain]
length(15), motif(531:545) 15 IPR017871 ABC transporter, conserved site [Conserved_site]
length(310), motif(699:1008) 310 IPR011527 ABC transporter type 1, transmembrane domain [Domain]
length(289), motif(712:1000) 289 IPR011527 ABC transporter type 1, transmembrane domain [Domain]
length(249), motif(1026:1274) 249 IPR027417 P-loop containing nucleoside triphosphate hydrolase [Domain]
length(235), motif(1035:1269) 235 IPR027417 P-loop containing nucleoside triphosphate hydrolase [Domain]
length(239), motif(1035:1273) 239 IPR003439 ABC transporter-like [Domain]
length(152), motif(1053:1204) 152 IPR003439 ABC transporter-like [Domain]
length(189), motif(1062:1250) 189 IPR003593 AAA+ ATPase domain [Domain]
length(15), motif(1176:1190) 15 IPR017871 ABC transporter, conserved site [Conserved_site]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000558224
H-Inv cluster ID Locus viewHIX0033521
Accession number EU852583.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help Representative H-Inv IDRepresentative transcript; 
Coding potential  Help Protein coding; 
Definition Multidrug resistance protein 1; EC=3.6.3.44; ATP-binding cassette sub-family B member 1; P-glycoprotein 1; AltName: CD_antigen=CD243;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (P08183)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 19671751972623256883228767812897240903821894732421071671910790226112409811125819711829140128539481461071814702039154889521561870015618713169599741866964821269460ALL
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol ABCB1
HGNC aliases "colchicin sensitivity"
HGNC name ATP-binding cassette, sub-family B (MDR/TAP), member 1
DDBJ NA
UniProt ABCB1
EC number EC 3.6.3.44xenobiotic-transporting ATPase; 
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000041054
No. of interaction 6
Interaction partner(s) HIP000030471HIP000047598HIP000101592HIP000101592HIP000112664HIP000177131
BIND NA
DIP 116734E; 
MINT MINT-50920; 
HPRD 01740;  01818;  03028;  07028;  17843; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:5243
KEGG GENES KEGG GENES(5243)
GeneCard GeneCardABCB1*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Human curated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool TACTTACT
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 ATPase activity, coupled to transmembrane movement of substances (GO:0042626);  ATP binding (GO:0005524);  ATPase activity (GO:0016887); 
Biological process transport (GO:0006810); 
Cellular component integral to membrane (GO:0016021); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT plasma membrane; 
Target P Other
SOSUI membrane protein
TMHMM membrane protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP) GTOP Last modified:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
142 373 2hydA2 4e-16 11.6 232/323 f.37.1.1
392 623 1b0uA 2e-49 28.8 226/258 c.37.1.12
777 1016 2hydA2 2e-14 10.8 238/323 f.37.1.1
1049 1258 1e69A 5e-45 13.1 206/263 c.37.1.12
Related H-InvDB links GTOP GTOP

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL endocrine_exocrine; 
Probe
information DNAProbeLocator
AceGene NA
Affymetrix
GeneChip
HG-Focus NA
HG-U133 NA
HG-U133A NA
HG-U133A_2 NA
HG-U133B NA
HG-U133_Plus_2 NA
HG-U95 NA
HG-U95A NA
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 NA
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 NA
Whole Human Genome Oligo Microarray:PGID247 NA
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: {Inflammatory bowel disease 13, susceptibility to} (612244); 
Related information in OMIM OMIM ID:  171050;  Title: ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1
Co-localized orphan diseases NA
Disease related mutation MutationView:  171050
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(5243)
Disease Entrez Gene ID:(5243)
Substance Entrez Gene ID:(5243)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Evolutionary information  Evola Help Last modified:27-May-2015
Relationship Species Accession number MGI Links
Orthology Rattus sp. (Rat) AF257746 G-integraG-integra
Orthology Canis sp. (Dog) AF536758 G-integraG-integra
Orthology Macaca sp. (Macaque) AF537133 G-integraG-integra
Orthology Mus sp. (Mouse) AK030328 G-integraG-integra
Orthology Danio sp. (Zebrafish) ENSDART00000019720 G-integraG-integra
Orthology Gallus sp. (Chicken) ENSGALT00000038247 G-integraG-integra
Orthology Oryzias sp. (Medaka) ENSORLT00000021372 G-integraG-integra
Orthology Pongo sp. (Orangutan) ENSPPYT00000020786 G-integraG-integra
Orthology Pan sp. (Chimpanzee) ENSPTRT00000035843 G-integraG-integra
Orthology Tetraodon sp. (Tetraodon) GSTENT00034000001 G-integraG-integra
Orthology Mus sp. (Mouse) M33581 G-integraG-integra
Orthology Takifugu sp. (Fugu) SINFRUT00000161094 G-integraG-integra
Orthology Monodelphis sp. (Opossum) XM_001377575 G-integraG-integra
Orthology Monodelphis sp. (Opossum) XM_001377586 G-integraG-integra
Orthology Bos sp. (Cow) XR_028282 G-integraG-integra
Phylogenetic tree [View by ATV]
Neighbor-joining (phb) 
Related H-InvDB links EvolaEvoladN/dS (under constraction); 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
5 .. 5 A/G rs201459845 - CDS Nonsynonymous[Asp2Gly]
18 .. 18 C/T rs200628142 - CDS Synonymous[Asp6Asp]
24 .. 24 T/G rs146259092 - CDS Nonsynonymous[Asn8Lys]
48 .. 48 T/C rs201181848 - CDS Synonymous[Phe16Phe]
49 .. 49 T/C rs28381804 + CDS Nonsynonymous[Phe17Leu]
52 .. 52 A/C rs200061099 - CDS Nonsynonymous[Lys18Gln]
55 .. 55 C/T/G rs41304191 - CDS
56 .. 56 T/A rs200915526 - CDS Nonsynonymous[Leu19Gln]
57 .. 57 G/A rs76199854 + CDS Synonymous[Leu19Leu]
57 .. 57 G/A rs202032114 + CDS Synonymous[Leu19Leu]
60 .. 60 C/T rs199847709 - CDS Synonymous[Asn20Asn]
61 .. 61 A/G rs9282564 + CDS Nonsynonymous[Asn21Asp]
83 .. 83 A/G rs112801674 - CDS Nonsynonymous[Lys28Arg]
115 .. 115 A/G rs201917713 - CDS Nonsynonymous[Met39Val]
122 .. 122 G/A rs199551851 - CDS Nonsynonymous[Arg41His]
125 .. 125 A/G rs201564736 - CDS Nonsynonymous[Tyr42Cys]
126 .. 126 T/C rs200464820 - CDS Synonymous[Tyr42Tyr]
131 .. 131 A/G rs1202183 + CDS Nonsynonymous[Asn44Ser]
144 .. 144 G/T rs139583955 - CDS Nonsynonymous[Lys48Asn]
146 .. 146 T/C rs202240722 - CDS Nonsynonymous[Leu49Ser]
147 .. 147 G/T rs192850609 - CDS Nonsynonymous[Leu49Phe]
159 .. 159 G/T rs115493381 - CDS Synonymous[Val53Val]
178 .. 178 A/C rs41315618 - CDS Nonsynonymous[Ile60Leu]
227 .. 227 C/T rs200177995 - CDS Nonsynonymous[Thr76Ile]
233 .. 233 T/C rs202150907 - CDS Nonsynonymous[Ile78Thr]
239 .. 239 C/A rs9282565 + CDS Nonsynonymous[Ala80Glu]
266 .. 266 T/C rs35810889 + CDS Nonsynonymous[Met89Thr]
289 .. 289 G/T rs199807788 - CDS Nonsynonymous[Asp97Tyr]
296 .. 296 A/G rs201641280 - CDS Nonsynonymous[Asn99Ser]
299 .. 299 A/G rs200693386 - CDS Nonsynonymous[Asp100Gly]
304 .. 304 G/C rs199607036 - CDS Nonsynonymous[Gly102Arg]
308 .. 308 T/C rs201396865 - CDS Nonsynonymous[Phe103Ser]
318 .. 318 T/C rs144036454 - CDS Synonymous[Asn106Asn]
325 .. 325 G/A rs189559454 - CDS Nonsynonymous[Glu109Lys]
329 .. 329 A/G rs201389507 - CDS Nonsynonymous[Asp110Gly]
359 .. 359 G/A rs201352004 - CDS Nonsynonymous[Gly120Glu]
431 .. 431 T/C rs61607171 + CDS Nonsynonymous[Ile144Thr]
454 .. 454 T/G rs199924747 - CDS Nonsynonymous[Phe152Val]
463 .. 463 A/G rs149518139 - CDS Nonsynonymous[Ile155Val]
470 .. 470 G/T rs202002337 - CDS Nonsynonymous[Arg157Leu]
480 .. 480 A/G rs200823786 - CDS Nonsynonymous[Ile160Met]
496 .. 496 C/T rs199509670 - CDS Nonsynonymous[His166Tyr]
502 .. 502 G/A rs61122623 + CDS Nonsynonymous[Val168Ile]
517 .. 517 A/C rs200753045 - CDS Nonsynonymous[Thr173Pro]
520 .. 520 C/T rs199808236 - CDS AA-STOP[Arg174*]
521 .. 521 G/A rs201280497 - CDS Nonsynonymous[Arg174Gln]
522 .. 522 A/G rs200292584 - CDS Synonymous[Arg174Arg]
536 .. 536 T/C rs201302394 - CDS Nonsynonymous[Val179Ala]
540 .. 540 C/T rs1128500 + CDS Synonymous[Ser180Ser]
548 .. 548 A/G rs60419673 + CDS Nonsynonymous[Asn183Ser]
554 .. 554 G/T rs1128501 + CDS Nonsynonymous[Gly185Val]
555 .. 555 A/T rs1128502 + CDS Synonymous[Gly185Gly]
563 .. 563 A/T rs200860057 - CDS Nonsynonymous[Asp188Val]
564 .. 564 C/G rs143782625 - CDS Nonsynonymous[Asp188Glu]
589 .. 589 A/G rs201810386 - CDS Nonsynonymous[Met197Val]
592 .. 592 G/C rs201234319 - CDS Nonsynonymous[Ala198Pro]
597 .. 597 A/G rs199848022 - CDS Synonymous[Thr199Thr]
663 .. 663 C/G rs201669414 - CDS Nonsynonymous[Ile221Met]
664 .. 664 A/G rs138302009 - CDS Nonsynonymous[Ser222Gly]
689 .. 689 C/G rs200191280 - CDS Nonsynonymous[Ala230Gly]
691 .. 691 G/C rs201649109 - CDS Nonsynonymous[Val231Leu]
723 .. 723 T/C rs201243789 - CDS Synonymous[Asp241Asp]
729 .. 729 A/G rs2235022 + CDS Synonymous[Glu243Glu]
737 .. 737 C/T rs201722148 - CDS Nonsynonymous[Ala246Val]
738 .. 738 G/A rs28381867 + CDS Synonymous[Ala246Ala]
781 .. 781 A/G rs36008564 + CDS Nonsynonymous[Ile261Val]
785 .. 785 G/A rs202177823 - CDS Nonsynonymous[Arg262Lys]
792 .. 792 G/A rs201066815 - CDS Synonymous[Val264Val]
794 .. 794 T/C rs200067310 - CDS Nonsynonymous[Ile265Thr]
810 .. 810 A/G rs202109172 - CDS Synonymous[Gln270Gln]
823 .. 823 G/T rs202097303 - CDS AA-STOP[Glu275*]
838 .. 838 A/C rs200922799 - CDS Nonsynonymous[Asn280His]
853 .. 853 A/G rs200148661 - CDS Nonsynonymous[Lys285Glu]
879 .. 879 T/C rs201862441 - CDS Synonymous[Ile293Ile]
887 .. 887 A/G rs200629342 - CDS Nonsynonymous[Asn296Ser]
894 .. 894 T/C rs199651449 - CDS Synonymous[Ser298Ser]
912 .. 912 G/A rs201153991 - CDS Synonymous[Leu304Leu]
920 .. 920 A/T rs200676994 - CDS Nonsynonymous[Tyr307Phe]
923 .. 923 C/T rs199591776 - CDS Nonsynonymous[Ala308Val]
948 .. 948 T/C rs148383772 - CDS Synonymous[Tyr316Tyr]
958 .. 958 T/G rs201444664 - CDS Nonsynonymous[Leu320Val]
981 .. 981 T/C rs200490161 - CDS Synonymous[Ser327Ser]
985 .. 985 G/A rs202163510 - CDS Nonsynonymous[Gly329Arg]
1002 .. 1002 A/T rs200049706 - CDS Synonymous[Val334Val]
1035 .. 1035 T/A rs200010117 - CDS Synonymous[Val345Val]
1044 .. 1044 A/G rs201779482 - CDS Synonymous[Ala348Ala]
1060 .. 1060 G/A rs200966236 - CDS Nonsynonymous[Ala354Thr]
1079 .. 1079 G/C rs199886416 - CDS Nonsynonymous[Gly360Ala]
1082 .. 1082 C/T rs201484093 - CDS Nonsynonymous[Ala361Val]
1098 .. 1098 C/T rs200671728 - CDS Synonymous[Phe366Phe]
1105 .. 1105 A/G rs199766539 - CDS Nonsynonymous[Ile369Val]
1117 .. 1117 C/G rs143333791 - CDS Nonsynonymous[Pro373Ala]
1121 .. 1121 G/A rs199578136 - CDS Nonsynonymous[Ser374Asn]
1131 .. 1131 C/T rs201349819 - CDS Synonymous[Ser377Ser]
1137 .. 1137 G/A rs200370991 - CDS Synonymous[Ser379Ser]
1163 .. 1163 T/G rs149196148 - CDS Nonsynonymous[Ile388Ser]
1177 .. 1177 G/A rs201346512 - CDS Nonsynonymous[Glu393Lys]
1178 .. 1178 A/C rs200199237 - CDS Nonsynonymous[Glu393Ala]
1193 .. 1193 A/T rs144933300 - CDS Nonsynonymous[His398Leu]
1199 .. 1199 G/A/T rs2229109 + CDS
1203 .. 1203 C/T rs200176163 - CDS Synonymous[Tyr401Tyr]
1211 .. 1211 G/A rs201352027 - CDS Nonsynonymous[Arg404Gln]
1216 .. 1216 G/A rs200870777 - CDS Nonsynonymous[Glu406Lys]
1219 .. 1219 G/T rs140214314 - CDS Nonsynonymous[Val407Phe]
1236 .. 1236 T/C rs1128503 + CDS Synonymous[Gly412Gly]
1247 .. 1247 A/G rs201491802 - CDS Nonsynonymous[Lys416Arg]
1251 .. 1251 G/A rs200176685 - CDS Synonymous[Val417Val]
1266 .. 1266 G/A rs143696486 - CDS Synonymous[Thr422Thr]
1293 .. 1293 T/G rs201462032 - CDS Nonsynonymous[Cys431Trp]
1297 .. 1297 A/G rs201678613 - CDS Nonsynonymous[Lys433Glu]
1308 .. 1308 A/G rs35068177 + CDS Synonymous[Thr436Thr]
1326 .. 1326 G/A rs41311775 - CDS Synonymous[Arg442Arg]
1327 .. 1327 C/T rs201725784 - CDS Nonsynonymous[Leu443Phe]
1342 .. 1342 G/A rs139611979 - CDS Nonsynonymous[Glu448Lys]
1349 .. 1349 T/G/C rs201987648 - CDS
1362 .. 1362 T/C rs202187982 - CDS Synonymous[Asp454Asp]
1371 .. 1371 T/C rs138211310 - CDS Synonymous[Asp457Asp]
1392 .. 1392 G/C rs201178758 - CDS Nonsynonymous[Arg464Ser]
1417 .. 1417 G/T rs200183659 - CDS Nonsynonymous[Val473Leu]
1445 .. 1445 C/T rs199720786 - CDS Nonsynonymous[Thr482Ile]
1449 .. 1449 G/A rs201650388 - CDS Synonymous[Thr483Thr]
1465 .. 1465 C/T rs142600685 - CDS Nonsynonymous[Arg489Cys]
1475 .. 1475 G/A rs199941458 - CDS Nonsynonymous[Arg492His]
1499 .. 1499 T/C rs201761318 - CDS Nonsynonymous[Ile500Thr]
1532 .. 1532 A/G rs200942041 - CDS Nonsynonymous[Asp511Gly]
1540 .. 1540 A/G rs148455513 - CDS Nonsynonymous[Met514Val]
1564 .. 1564 A/T rs201159898 - CDS Nonsynonymous[Thr522Ser]
1607 .. 1607 A/G rs200631297 - CDS Nonsynonymous[Lys536Arg]
1611 .. 1611 G/A rs201960151 - CDS Synonymous[Gln537Gln]
1617 .. 1617 C/T rs35633772 + CDS Synonymous[Ile539Ile]
1618 .. 1618 G/A rs201188762 - CDS Nonsynonymous[Ala540Thr]
1620 .. 1620 C/T rs199922329 - CDS Synonymous[Ala540Ala]
1630 .. 1630 G/A rs202111093 - CDS Nonsynonymous[Ala544Thr]
1632 .. 1632 C/T rs60247941 + CDS Synonymous[Ala544Ala]
1635 .. 1635 G/T rs201139593 - CDS Synonymous[Leu545Leu]
1639 .. 1639 C/T rs199852575 - CDS Nonsynonymous[Arg547Cys]
1656 .. 1656 C/T/G rs201739562 - CDS
1662 .. 1662 G/C rs2235012 + CDS Synonymous[Leu554Leu]
1674 .. 1674 G/A rs56871767 + CDS Synonymous[Thr558Thr]
1683 .. 1683 G/T rs201641803 - CDS Nonsynonymous[Leu561Phe]
1695 .. 1695 C/T rs59697741 + CDS Synonymous[Ser565Ser]
1696 .. 1696 G/A rs28381902 + CDS Nonsynonymous[Glu566Lys]
1721 .. 1721 A/T rs199659428 - CDS Nonsynonymous[Asp574Val]
1722 .. 1722 T/A rs201155718 - CDS Nonsynonymous[Asp574Glu]
1734 .. 1734 A/G rs201565207 - CDS Synonymous[Lys578Lys]
1738 .. 1738 C/T rs200224345 - CDS Nonsynonymous[Arg580Trp]
1739 .. 1739 G/A rs202017838 - CDS Nonsynonymous[Arg580Gln]
1758 .. 1758 T/C rs111784091 - CDS Synonymous[Ala586Ala]
1762 .. 1762 C/T rs201122883 - CDS Nonsynonymous[Arg588Cys]
1773 .. 1773 A/G rs200468776 - CDS Synonymous[Thr591Thr]
1777 .. 1777 C/T rs28381914 + CDS Nonsynonymous[Arg593Cys]
1778 .. 1778 G/A rs56107566 - CDS Nonsynonymous[Arg593His]
1788 .. 1788 C/T rs201194764 - CDS Synonymous[Asp596Asp]
1789 .. 1789 G/C/A rs199931362 - CDS
1794 .. 1794 C/T rs28381915 + CDS Synonymous[Ile598Ile]
1795 .. 1795 G/A rs2235036 + CDS Nonsynonymous[Ala599Thr]
1801 .. 1801 T/A rs201195687 - CDS Nonsynonymous[Phe601Ile]
1803 .. 1803 C/T rs147451192 - CDS Synonymous[Phe601Phe]
1804 .. 1804 G/A rs201365503 - CDS Nonsynonymous[Asp602Asn]
1806 .. 1806 T/C rs201487038 - CDS Synonymous[Asp602Asp]
1819 .. 1819 G/A rs149359465 - CDS Nonsynonymous[Val607Met]
1837 .. 1837 G/T rs57001392 + CDS Nonsynonymous[Asp613Tyr]
1839 .. 1839 T/C rs138926696 - CDS Synonymous[Asp613Asp]
1854 .. 1854 G/A rs150277104 - CDS Synonymous[Glu618Glu]
1871 .. 1871 A/G rs141018820 - CDS Nonsynonymous[Lys624Arg]
1897 .. 1897 A/G rs200457539 - CDS Nonsynonymous[Asn633Asp]
1911 .. 1911 A/G rs199581289 - CDS Synonymous[Leu637Leu]
1925 .. 1925 A/T rs201352373 - CDS Nonsynonymous[Asp642Val]
1949 .. 1949 C/G rs200378616 - CDS Nonsynonymous[Ala650Gly]
1967 .. 1967 A/G rs200376045 - CDS Nonsynonymous[Asn656Ser]
1984 .. 1984 C/T rs138422716 - CDS Synonymous[Leu662Leu]
1985 .. 1985 T/G rs35657960 + CDS Nonsynonymous[Leu662Arg]
1993 .. 1993 A/C rs145840638 - CDS Nonsynonymous[Lys665Gln]
2005 .. 2005 C/T rs35023033 + CDS Nonsynonymous[Arg669Cys]
2006 .. 2006 G/T/A rs146703713 - CDS
2009 .. 2009 G/A rs201298259 - CDS Nonsynonymous[Arg670Lys]
2012 .. 2012 G/A rs200178485 - CDS Nonsynonymous[Ser671Asn]
2017 .. 2017 C/T rs200859389 - CDS Nonsynonymous[Arg673Cys]
2018 .. 2018 G/A rs184290374 - CDS Nonsynonymous[Arg673His]
2037 .. 2037 C/T rs59340265 + CDS Synonymous[Asp679Asp]
2038 .. 2038 A/C rs201355162 - CDS Synonymous[Arg680Arg]
2106 .. 2106 G/A rs143151234 - CDS Synonymous[Lys702Lys]
2130 .. 2130 T/G rs200727539 - CDS AA-STOP[Tyr710*]
2154 .. 2154 C/T rs199815160 - CDS Synonymous[Ala718Ala]
2187 .. 2187 A/C rs201496565 - CDS Synonymous[Ala729Ala]
2206 .. 2206 A/C rs200519232 - CDS Nonsynonymous[Ile736Leu]
2207 .. 2207 T/A rs41316450 - CDS Nonsynonymous[Ile736Lys]
2208 .. 2208 A/G rs199580885 - CDS Nonsynonymous[Ile736Met]
2241 .. 2241 A/G rs201302701 - CDS Synonymous[Thr747Thr]
2257 .. 2257 A/G rs200152744 - CDS Nonsynonymous[Asn753Asp]
2280 .. 2280 A/G rs201862444 - CDS Synonymous[Leu760Leu]
2302 .. 2302 A/G rs149038363 - CDS Nonsynonymous[Ile768Val]
2307 .. 2307 A/G rs200511149 - CDS Synonymous[Thr769Thr]
2320 .. 2320 G/C rs199564535 - CDS Nonsynonymous[Gly774Arg]
2337 .. 2337 A/G rs145040841 - CDS Synonymous[Lys779Lys]
2355 .. 2355 C/T rs149959129 - CDS Synonymous[Thr785Thr]
2359 .. 2359 C/A rs200903110 - CDS Synonymous[Arg787Arg]
2366 .. 2366 G/A rs199779996 - CDS Nonsynonymous[Arg789Gln]
2372 .. 2372 T/C rs201661522 - CDS Nonsynonymous[Met791Thr]
2381 .. 2381 G/A rs201249149 - CDS Nonsynonymous[Arg794Gln]
2384 .. 2384 C/G rs201418528 - CDS Nonsynonymous[Ser795Cys]
2385 .. 2385 C/T rs200179722 - CDS Synonymous[Ser795Ser]
2391 .. 2391 C/T rs201730973 - CDS Synonymous[Leu797Leu]
2398 .. 2398 G/A rs41305517 - CDS Nonsynonymous[Asp800Asn]
2400 .. 2400 T/A rs201142514 - CDS Nonsynonymous[Asp800Glu]
2401 .. 2401 G/A rs2235039 + CDS Nonsynonymous[Val801Met]
2426 .. 2426 A/G rs199856295 - CDS Nonsynonymous[Asn809Ser]
2438 .. 2438 C/G rs201744003 - CDS Nonsynonymous[Ala813Gly]
2455 .. 2455 G/A rs200754866 - CDS Nonsynonymous[Ala819Thr]
2466 .. 2466 T/G rs200155994 - CDS Synonymous[Ala822Ala]
2485 .. 2485 A/G rs2032581 + CDS Nonsynonymous[Ile829Val]
2505 .. 2505 A/G rs28381966 + CDS Synonymous[Val835Val]
2506 .. 2506 A/G rs28381967 + CDS Nonsynonymous[Ile836Val]
2507 .. 2507 T/A rs200496828 - CDS Nonsynonymous[Ile836Asn]
2547 .. 2547 A/G rs36105130 + CDS Nonsynonymous[Ile849Met]
2568 .. 2568 A/G rs199661708 - CDS Synonymous[Gln856Gln]
2580 .. 2580 A/C rs201741691 - CDS Nonsynonymous[Leu860Phe]
2635 .. 2635 T/C rs200203709 - CDS Synonymous[Leu879Leu]
2647 .. 2647 G/T rs147823195 - CDS Nonsynonymous[Ala883Ser]
2650 .. 2650 C/T rs9282563 + CDS Synonymous[Leu884Leu]
2677 .. 2677 T/A/G rs2032582 + CDS
2689 .. 2689 G/A rs147487745 - CDS Nonsynonymous[Ala897Thr]
2691 .. 2691 T/C rs141400206 - CDS Synonymous[Ala897Ala]
2698 .. 2698 G/A rs138472105 - CDS Nonsynonymous[Ala900Thr]
2756 .. 2756 T/C rs201740660 - CDS Nonsynonymous[Met919Thr]
2776 .. 2776 G/A rs201316099 - CDS Nonsynonymous[Val926Ile]
2783 .. 2783 A/C rs148718120 - CDS Nonsynonymous[Tyr928Ser]
2809 .. 2809 A/C rs200811596 - CDS Nonsynonymous[Ile937Leu]
2859 .. 2859 T/C rs112595468 - CDS Synonymous[Tyr953Tyr]
2867 .. 2867 G/A rs201357626 - CDS Nonsynonymous[Cys956Tyr]
2872 .. 2872 C/T rs200280095 - CDS Nonsynonymous[Arg958Trp]
2873 .. 2873 G/A rs144369247 - CDS Nonsynonymous[Arg958Gln]
2896 .. 2896 C/A rs202110704 - CDS Nonsynonymous[His966Asn]
2918 .. 2918 A/C rs149638669 - CDS Nonsynonymous[Asp973Ala]
2925 .. 2925 G/A rs138503485 - CDS Synonymous[Leu975Leu]
2946 .. 2946 C/T rs199987249 - CDS Synonymous[Val982Val]
2975 .. 2975 G/A rs56849127 + CDS Nonsynonymous[Ser992Asn]
2991 .. 2991 C/T rs201744657 - CDS Synonymous[Asp997Asp]
2995 .. 2995 G/A rs72552784 - CDS Nonsynonymous[Ala999Thr]
3024 .. 3024 C/A rs200944013 - CDS Synonymous[Ile1008Ile]
3026 .. 3026 T/C rs199882044 - CDS Nonsynonymous[Ile1009Thr]
3028 .. 3028 A/G rs201974955 - CDS Nonsynonymous[Met1010Val]
3044 .. 3044 C/A rs145774816 - CDS Nonsynonymous[Thr1015Asn]
3068 .. 3068 C/T rs142183184 - CDS Nonsynonymous[Thr1023Met]
3069 .. 3069 G/A rs138566631 - CDS Synonymous[Thr1023Thr]
3080 .. 3080 T/C rs199819428 - CDS Nonsynonymous[Met1027Thr]
3084 .. 3084 G/A rs2235044 + CDS Synonymous[Pro1028Pro]
3088 .. 3088 A/G rs201542635 - CDS Nonsynonymous[Thr1030Ala]
3093 .. 3093 G/A rs150114592 - CDS Synonymous[Leu1031Leu]
3113 .. 3113 G/A rs200256019 - CDS Nonsynonymous[Gly1038Asp]
3119 .. 3119 T/C rs201819590 - CDS Nonsynonymous[Val1040Ala]
3121 .. 3121 G/A rs200968469 - CDS Nonsynonymous[Val1041Ile]
3147 .. 3147 C/T rs140661329 - CDS Synonymous[Asp1049Asp]
3151 .. 3151 C/G rs28401798 + CDS Nonsynonymous[Pro1051Ala]
3163 .. 3163 G/A rs199891187 - CDS Nonsynonymous[Gly1055Arg]
3188 .. 3188 G/C rs2707944 - CDS Nonsynonymous[Gly1063Ala]
3189 .. 3189 C/G rs2707943 - CDS Synonymous[Gly1063Gly]
3199 .. 3199 G/A rs201951511 - CDS Nonsynonymous[Ala1067Thr]
3213 .. 3213 C/T rs202201068 - CDS Synonymous[Ser1071Ser]
3214 .. 3214 A/C rs201184403 - CDS Nonsynonymous[Ser1072Arg]
3226 .. 3226 A/G rs201870318 - CDS Nonsynonymous[Lys1076Glu]
3232 .. 3232 A/T/C rs200192869 - CDS
3242 .. 3242 A/G rs201642705 - CDS Nonsynonymous[Gln1081Arg]
3247 .. 3247 C/G rs200514028 - CDS Nonsynonymous[Leu1083Val]
3253 .. 3253 C/T rs199943026 - CDS Nonsynonymous[Arg1085Trp]
3254 .. 3254 G/A rs201765972 - CDS Nonsynonymous[Arg1085Gln]
3261 .. 3261 C/T rs200822574 - CDS Synonymous[Tyr1087Tyr]
3262 .. 3262 G/A rs57521326 + CDS Nonsynonymous[Asp1088Asn]
3295 .. 3295 A/G rs41309225 - CDS Nonsynonymous[Lys1099Glu]
3306 .. 3306 G/A rs185002393 - CDS Synonymous[Lys1102Lys]
3315 .. 3315 T/C rs201204429 - CDS Synonymous[Asn1105Asn]
3316 .. 3316 G/A rs148897157 - CDS Nonsynonymous[Val1106Ile]
3320 .. 3320 A/C rs55852620 - CDS Nonsynonymous[Gln1107Pro]
3322 .. 3322 T/C rs35730308 + CDS Nonsynonymous[Trp1108Arg]
3344 .. 3344 T/C rs199931681 - CDS Nonsynonymous[Ile1115Thr]
3362 .. 3362 T/A rs202215242 - CDS Nonsynonymous[Ile1121Asn]
3369 .. 3369 T/C rs201143383 - CDS Synonymous[Phe1123Phe]
3379 .. 3379 A/G rs199894992 - CDS Nonsynonymous[Ile1127Val]
3396 .. 3396 C/T rs34748655 + CDS Synonymous[Ala1132Ala]
3408 .. 3408 C/T rs201106061 - CDS Synonymous[Asn1136Asn]
3410 .. 3410 G/T rs41309228 - CDS Nonsynonymous[Ser1137Ile]
3413 .. 3413 G/A rs200196668 - CDS Nonsynonymous[Arg1138Gln]
3421 .. 3421 T/A rs2229107 + CDS Nonsynonymous[Ser1141Thr]
3435 .. 3435 T/A/C rs1045642 + CDS
3446 .. 3446 C/T rs199605609 - CDS Nonsynonymous[Ala1149Val]
3454 .. 3454 G/T rs201520086 - CDS Nonsynonymous[Ala1152Ser]
3474 .. 3474 C/T rs200703943 - CDS Synonymous[Ile1158Ile]
3502 .. 3502 A/G rs59241388 + CDS Nonsynonymous[Lys1168Glu]
3547 .. 3547 C/T rs199676098 - CDS Nonsynonymous[Arg1183Cys]
3562 .. 3562 C/G rs139820108 - CDS Nonsynonymous[Arg1188Gly]
3563 .. 3563 G/A rs201530445 - CDS Nonsynonymous[Arg1188His]
3567 .. 3567 C/T rs150614853 - CDS Synonymous[Ala1189Ala]
3609 .. 3609 G/T rs200294906 - CDS Synonymous[Thr1203Thr]
3613 .. 3613 G/A rs202030954 - CDS Nonsynonymous[Ala1205Thr]
3632 .. 3632 A/C rs201111035 - CDS Nonsynonymous[Glu1211Ala]
3639 .. 3639 T/C rs143356931 - CDS Synonymous[Val1213Val]
3646 .. 3646 G/A rs140995435 - CDS Nonsynonymous[Glu1216Lys]
3669 .. 3669 A/T rs41309231 - CDS Nonsynonymous[Glu1223Asp]
3675 .. 3675 C/G rs141856581 - CDS Synonymous[Arg1225Arg]
3678 .. 3678 C/G rs201225658 - CDS Synonymous[Thr1226Thr]
3682 .. 3682 A/G rs199912437 - CDS Nonsynonymous[Ile1228Val]
3687 .. 3687 G/C rs201462254 - CDS Synonymous[Val1229Val]
3690 .. 3690 T/C rs200645658 - CDS Synonymous[Ile1230Ile]
3693 .. 3693 T/C rs199868523 - CDS Synonymous[Ala1231Ala]
3698 .. 3698 G/A rs201578293 - CDS Nonsynonymous[Arg1233His]
3707 .. 3707 C/T rs200637194 - CDS Nonsynonymous[Thr1236Ile]
3709 .. 3709 A/G rs139750664 - CDS Nonsynonymous[Ile1237Val]
3717 .. 3717 T/C rs146398820 - CDS Synonymous[Asn1239Asn]
3718 .. 3718 G/T rs201089646 - CDS Nonsynonymous[Ala1240Ser]
3721 .. 3721 G/A rs142093374 - CDS Nonsynonymous[Asp1241Asn]
3746 .. 3746 G/A rs201609930 - CDS Nonsynonymous[Gly1249Asp]
3747 .. 3747 C/G rs2235051 + CDS Synonymous[Gly1249Gly]
3747 .. 3747 C/G rs60737508 + CDS Synonymous[Gly1249Gly]
3751 .. 3751 G/A rs28364274 + CDS Nonsynonymous[Val1251Ile]
3751 .. 3751 G/A rs45456698 + CDS Nonsynonymous[Val1251Ile]
3767 .. 3767 C/A rs35721439 + CDS Nonsynonymous[Thr1256Lys]
3768 .. 3768 G/A rs149482536 - CDS Synonymous[Thr1256Thr]
3809 .. 3809 T/C rs200264629 - CDS Nonsynonymous[Met1270Thr]
3828 .. 3828 A/G rs202087295 - CDS Synonymous[Gly1276Gly]
3835 .. 3835 C/T rs137996914 - CDS Nonsynonymous[Arg1279Cys]
3836 .. 3836 G/A rs200263370 - CDS Nonsynonymous[Arg1279His]
3839 .. 3839 A/C rs202194143 - CDS Nonsynonymous[Gln1280Pro]
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer