H-InvDB x AHG DB
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H-Invitational ID: HIT000000030 Accession number: AB002322 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Serine/arginine repetitive matrix protein 2; 300 kDa nuclear matrix antigen; Serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa; SR-related nuclear matrix protein of 300 kDa; Ser/Arg-related nuclear matrix protein of 300 kDa; Splicing coactivator subunit SRm300; Tax-responsive enhancer element-binding protein 803; TaxREB803;
 
 

Transcript original information
Accession number AB002322.3
CAGE tag ID NA
EST ID NA
Clone Number ee08846s1
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ;
Sequence data provider Provider:KDRI
Annotation project H-Invitational FLcDNA
Length of cDNA 9003[bp] (No. of exon:15)[A:2205 T:1766 G:2209 C:2823]
Devision HUM
Molecular type mRNA
Library origin Cell type normal human aortic endothelial cells
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) CAGCAG;  CAGGAG;  TAGCAG; 
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0224023
Genomic location  G-integra Help Chromosome 16
Location 16p13.3
Position 2802678- 2821411
Strand +
Possible duplicated location(s) NA
Gene structure 15 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:23524
KEGG GENES KEGG GENES(23524)
GeneCard NA *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 HIP000134552
Predicted CDS 202..8460;  2752[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.761

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000000030
H-Inv cluster ID Locus viewHIX0224023
Accession number AB002322.3
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Serine/arginine repetitive matrix protein 2; 300 kDa nuclear matrix antigen; Serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa; SR-related nuclear matrix protein of 300 kDa; Ser/Arg-related nuclear matrix protein of 300 kDa; Splicing coactivator subunit SRm300; Tax-responsive enhancer element-binding protein 803; TaxREB803;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q9UQ35)  [Identity/coverage = 99.964%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 92058419531537106688041100448911991638151441861548933415616553169642431708198317525332179246791822033618669648196088611969033219854871200682312126946021406692ALL
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 NA
HGNC aliases NA
HGNC name NA
DDBJ KIAA0324
UniProt SRRM2
EC number NA
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 HIP000134552
No. of interaction 16
Interaction partner(s) HIP000006280HIP000017241HIP000028618HIP000033272HIP000034631HIP000037399HIP000050194HIP000071164HIP000089031HIP000097016HIP000101685HIP000113997HIP000206539HIP000251926HIP000258529HIP000287963
BIND 58068; 
DIP 112419E;  113664E;  116327E;  144752E;  77578E;  77660E; 
MINT MINT-3318572;  MINT-3976138;  MINT-50852;  MINT-50974;  MINT-5205791;  MINT-7945693; 
HPRD 00146;  00589;  02744;  02877;  03144;  03183;  03184;  03185;  04340;  04401;  05496;  05639;  07341;  10441;  14358; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:23524
KEGG GENES KEGG GENES(23524)
GeneCard NA *GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Auto-annotated
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


Subcellular localization information  Last modified:27-May-2015
WoLF PSORT nuclear; 
Target P Other
SOSUI soluble protein
TMHMM soluble 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.

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsA151502; 
Affymetrix
GeneChip
HG-Focus 208610_s_at; 
HG-U133 207435_s_at;  208610_s_at; 
HG-U133A 207435_s_at;  208610_s_at; 
HG-U133A_2 207435_s_at;  208610_s_at; 
HG-U133B NA
HG-U133_Plus_2 1554671_a_at;  207435_s_at;  208610_s_at; 
HG-U95 32761_at;  65441_at;  78525_at;  78527_g_at; 
HG-U95A 32761_at; 
HG-U95B NA
HG-U95C 65441_at; 
HG-U95D NA
HG-U95E 78525_at;  78527_g_at; 
HG-U95Av2 NA
HuEx-1_0 3645254;  3645256;  3645257;  3645258;  3645260;  3645262;  3645265;  3645267;  3645269;  3645271;  3645275;  3645278;  3645279;  3645280;  3645281;  3645282;  3645283;  3645284;  3645285;  3645286;  3645287;  3645288;  3645289;  3645290;  3645291;  3645292;  3645293;  3645294;  3645295;  3645296;  3645297;  3645298;  3645302;  3645303;  3645304;  3645309;  3645310;  3645311;  3645312;  3645313;  3645314;  3677140;  3677142;  3677143;  3677144;  3677145;  3677146;  3677147;  3677148;  3677149;  3677151;  3677153;  3677155;  3677157;  3677159;  3677161;  3677165; 
HuGeneFL X97301_at; 
Agilent Human 1A Oligo Microarray:PGID215 A_23_P152381;  A_23_P323166; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P323166;  A_24_P50988; 
Related H-InvDB links H-ANGELH-ANGEL;  DNAProbeLocatorDNAProbeLocator

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
7 .. 7 T/C rs2240146 - 5'UTR
135 .. 135 C/T rs192543517 + 5'UTR
183 .. 183 C/T rs192896846 + 5'UTR
199 .. 199 G/A rs201852287 + 5'UTR
234 .. 234 G/T rs111402916 + CDS Synonymous[Arg11Arg]
262 .. 262 C/T rs149187320 + CDS Nonsynonymous[Arg21Cys]
286 .. 286 C/T rs11551732 + CDS Nonsynonymous[Arg29Cys]
290 .. 290 G/A rs143405071 + CDS Nonsynonymous[Arg30Gln]
357 .. 357 G/T rs201056497 + CDS Synonymous[Arg52Arg]
575 .. 575 C/T rs202076087 + CDS Nonsynonymous[Ala125Val]
591 .. 591 G/C rs142401631 + CDS Nonsynonymous[Lys130Asn]
615 .. 615 C/G rs74706545 + CDS Synonymous[Ala138Ala]
655 .. 655 G/A rs202150099 + CDS Nonsynonymous[Asp152Asn]
673 .. 673 C/G rs200787815 + CDS Nonsynonymous[Arg158Gly]
692 .. 692 C/T rs141420369 + CDS Nonsynonymous[Ala164Val]
724 .. 724 C/T rs199835386 + CDS Nonsynonymous[Arg175Trp]
765 .. 765 G/A rs201016157 + CDS Synonymous[Lys188Lys]
861 .. 861 A/G rs201096433 + CDS Synonymous[Ser220Ser]
866 .. 866 C/T rs201317797 + CDS Nonsynonymous[Ser222Phe]
876 .. 876 G/A rs147445433 + CDS Synonymous[Lys225Lys]
934 .. 934 C/A rs138293757 + CDS Synonymous[Arg245Arg]
940 .. 940 C/T rs202002640 + CDS Nonsynonymous[Arg247Trp]
973 .. 973 C/T rs143936083 + CDS Nonsynonymous[Arg258Cys]
997 .. 997 G/T rs112146559 + CDS Nonsynonymous[Ala266Ser]
1018 .. 1018 G/A rs200535115 + CDS Nonsynonymous[Asp273Asn]
1027 .. 1027 C/T rs200237075 + CDS Nonsynonymous[Arg276Cys]
1038 .. 1038 T/C rs113566023 + CDS Synonymous[Ser279Ser]
1051 .. 1051 G/C rs147269050 + CDS Nonsynonymous[Ala284Pro]
1069 .. 1069 G/A rs190081047 + CDS Nonsynonymous[Ala290Thr]
1096 .. 1096 G/C rs139163689 + CDS Nonsynonymous[Ala299Pro]
1101 .. 1101 A/C rs149922891 + CDS Synonymous[Ser300Ser]
1110 .. 1110 C/G rs144156460 + CDS Synonymous[Arg303Arg]
1122 .. 1122 T/C rs148679408 + CDS Synonymous[Asp307Asp]
1125 .. 1125 G/A rs143168046 + CDS Synonymous[Ala308Ala]
1132 .. 1132 A/G rs79975303 + CDS Nonsynonymous[Ser311Gly]
1147 .. 1147 A/G rs143344569 + CDS Nonsynonymous[Thr316Ala]
1172 .. 1172 C/T rs183048804 + CDS Nonsynonymous[Pro324Leu]
1174 .. 1174 G/A rs202064795 + CDS Nonsynonymous[Glu325Lys]
1184 .. 1184 C/T rs139084411 + CDS Nonsynonymous[Thr328Met]
1187 .. 1187 A/G rs144062317 + CDS Nonsynonymous[Lys329Arg]
1192 .. 1192 C/T rs79168841 + CDS Nonsynonymous[Pro331Ser]
1197 .. 1197 C/T rs141052535 + CDS Synonymous[Ser332Ser]
1202 .. 1202 C/T rs150235008 + CDS Nonsynonymous[Pro334Leu]
1213 .. 1213 A/G rs192564444 + CDS Nonsynonymous[Lys338Glu]
1224 .. 1224 C/T rs145868499 + CDS Synonymous[Asp341Asp]
1238 .. 1238 C/T rs149019598 + CDS Nonsynonymous[Ser346Phe]
1243 .. 1243 A/G rs185897671 + CDS Nonsynonymous[Thr348Ala]
1255 .. 1255 C/T rs199498214 + CDS Nonsynonymous[Pro352Ser]
1261 .. 1261 C/G rs147112290 + CDS Nonsynonymous[Pro354Ala]
1263 .. 1263 G/A rs138332398 + CDS Synonymous[Pro354Pro]
1304 .. 1304 C/T rs143815852 + CDS Nonsynonymous[Pro368Leu]
1384 .. 1384 T/C rs140983799 + CDS Nonsynonymous[Ser395Pro]
1394 .. 1394 C/T rs148315390 + CDS Nonsynonymous[Ser398Phe]
1396 .. 1396 C/T rs201759902 + CDS Nonsynonymous[Pro399Ser]
1415 .. 1415 C/T rs201162789 + CDS Nonsynonymous[Pro405Leu]
1417 .. 1417 C/T rs201469710 + CDS Nonsynonymous[Pro406Ser]
1420 .. 1420 A/G rs141738764 + CDS Nonsynonymous[Lys407Glu]
1429 .. 1429 G/C rs150549403 + CDS Nonsynonymous[Glu410Gln]
1486 .. 1486 A/G rs139567101 + CDS Nonsynonymous[Lys429Glu]
1505 .. 1505 G/C rs114899013 + CDS Nonsynonymous[Ser435Thr]
1594 .. 1594 G/A rs199791101 + CDS Nonsynonymous[Gly465Ser]
1600 .. 1600 G/A rs200712390 + CDS Nonsynonymous[Ala467Thr]
1601 .. 1601 C/T rs144927974 + CDS Nonsynonymous[Ala467Val]
1603 .. 1603 A/G rs199732732 + CDS Nonsynonymous[Lys468Glu]
1606 .. 1606 C/T rs146267583 + CDS Nonsynonymous[Arg469Trp]
1620 .. 1620 T/C rs139123042 + CDS Synonymous[His473His]
1632 .. 1632 C/T rs146753340 + CDS Synonymous[Pro477Pro]
1634 .. 1634 C/T rs140370418 + CDS Nonsynonymous[Ser478Phe]
1636 .. 1636 C/T rs182545398 + CDS Nonsynonymous[Arg479Cys]
1637 .. 1637 G/A rs201493790 + CDS Nonsynonymous[Arg479His]
1650 .. 1650 G/C rs145266969 + CDS Nonsynonymous[Arg483Ser]
1655 .. 1655 G/A rs143969746 + CDS Nonsynonymous[Arg485His]
1656 .. 1656 T/C rs201854998 + CDS Synonymous[Arg485Arg]
1669 .. 1669 G/A rs144952540 + CDS Nonsynonymous[Ala490Thr]
1694 .. 1694 G/A rs186218708 + CDS Nonsynonymous[Arg498Gln]
1696 .. 1696 A/G rs148626031 + CDS Nonsynonymous[Thr499Ala]
1736 .. 1736 A/C rs75813313 + CDS Nonsynonymous[Gln512Pro]
1779 .. 1779 A/C rs202014148 + CDS Nonsynonymous[Arg526Ser]
1792 .. 1792 C/T rs142113413 + CDS Nonsynonymous[Arg531Cys]
1798 .. 1798 C/T rs137870448 + CDS Nonsynonymous[Arg533Cys]
1799 .. 1799 G/A rs141736410 + CDS Nonsynonymous[Arg533His]
1810 .. 1810 C/T rs201388685 + CDS Nonsynonymous[Pro537Ser]
1824 .. 1824 C/G rs201448884 + CDS Synonymous[Gly541Gly]
1850 .. 1850 G/A rs149492955 + CDS Nonsynonymous[Arg550Lys]
1871 .. 1871 C/T rs147122181 + CDS Nonsynonymous[Ala557Val]
1877 .. 1877 G/A rs199692788 + CDS Nonsynonymous[Arg559Gln]
1881 .. 1881 G/T rs199955922 + CDS Synonymous[Gly560Gly]
1894 .. 1894 A/G rs147738815 + CDS Nonsynonymous[Arg565Gly]
1900 .. 1900 C/T rs142349203 + CDS Nonsynonymous[Pro567Ser]
1919 .. 1919 C/G rs200645790 + CDS Nonsynonymous[Ser573Cys]
1939 .. 1939 C/T rs146283035 + CDS Nonsynonymous[Arg580Cys]
1970 .. 1970 C/T rs138805660 + CDS Nonsynonymous[Ala590Val]
1976 .. 1976 G/A rs143069128 + CDS Nonsynonymous[Arg592Gln]
1985 .. 1985 G/A rs200665835 + CDS Nonsynonymous[Arg595Gln]
1999 .. 1999 A/G rs149389243 + CDS Nonsynonymous[Thr600Ala]
2006 .. 2006 G/A rs143703682 + CDS Nonsynonymous[Arg602His]
2007 .. 2007 T/C rs148255549 + CDS Synonymous[Arg602Arg]
2014 .. 2014 C/T rs115253860 + CDS Nonsynonymous[Arg605Trp]
2015 .. 2015 G/A rs201876773 + CDS Nonsynonymous[Arg605Gln]
2032 .. 2032 C/T rs146277556 + CDS Nonsynonymous[Arg611Trp]
2047 .. 2047 C/T rs200559630 + CDS Nonsynonymous[Arg616Trp]
2070 .. 2070 C/G rs139368016 + CDS Synonymous[Arg623Arg]
2088 .. 2088 A/G rs142356095 + CDS Synonymous[Ser629Ser]
2120 .. 2120 C/T rs184230162 + CDS Nonsynonymous[Pro640Leu]
2132 .. 2132 G/A rs188730163 + CDS Nonsynonymous[Ser644Asn]
2154 .. 2154 C/T rs79910471 + CDS Synonymous[Thr651Thr]
2164 .. 2164 C/T rs139458756 + CDS Nonsynonymous[Arg655Cys]
2170 .. 2170 C/T rs199497812 + CDS Nonsynonymous[Arg657Cys]
2187 .. 2187 C/T rs149702523 + CDS Synonymous[Thr662Thr]
2193 .. 2193 C/T rs144485456 + CDS Synonymous[Ala664Ala]
2214 .. 2214 T/C rs140110119 + CDS Synonymous[Ser671Ser]
2240 .. 2240 G/A rs145514162 + CDS Nonsynonymous[Arg680His]
2245 .. 2245 C/T rs201743839 + CDS Nonsynonymous[Arg682Cys]
2246 .. 2246 G/A rs116990973 + CDS Nonsynonymous[Arg682His]
2257 .. 2257 C/A rs142588298 + CDS Nonsynonymous[Pro686Thr]
2284 .. 2284 A/G rs201425326 + CDS Nonsynonymous[Arg695Gly]
2289 .. 2289 A/G rs75499358 + CDS Synonymous[Thr696Thr]
2308 .. 2308 C/T rs193209461 + CDS Nonsynonymous[Arg703Cys]
2316 .. 2316 A/C rs142454703 + CDS Nonsynonymous[Arg705Ser]
2319 .. 2319 C/T rs2240142 - CDS Synonymous[Ser706Ser]
2351 .. 2351 C/A rs116499978 + CDS Nonsynonymous[Thr717Lys]
2381 .. 2381 C/T rs140438674 + CDS Nonsynonymous[Ser727Phe]
2402 .. 2402 C/T rs199751016 + CDS Nonsynonymous[Ser734Phe]
2421 .. 2421 A/C rs150436880 + CDS Nonsynonymous[Arg740Ser]
2424 .. 2424 C/T rs202045898 + CDS Synonymous[Ser741Ser]
2446 .. 2446 A/G rs138290392 + CDS Nonsynonymous[Met749Val]
2458 .. 2458 C/G rs186552728 + CDS Nonsynonymous[Arg753Gly]
2459 .. 2459 G/A rs140346179 + CDS Nonsynonymous[Arg753His]
2465 .. 2465 C/T rs200852292 + CDS Nonsynonymous[Ser755Phe]
2497 .. 2497 C/T rs113244516 + CDS Nonsynonymous[Arg766Trp]
2504 .. 2504 A/C rs138020320 + CDS Nonsynonymous[Lys768Thr]
2515 .. 2515 C/T rs142703288 + CDS Nonsynonymous[Arg772Cys]
2516 .. 2516 G/A rs144124351 + CDS Nonsynonymous[Arg772His]
2531 .. 2531 G/A rs148200515 + CDS Nonsynonymous[Arg777His]
2533 .. 2533 A/C rs141134283 + CDS Nonsynonymous[Ser778Arg]
2557 .. 2557 C/G rs150748530 + CDS Nonsynonymous[Pro786Ala]
2562 .. 2562 G/A rs2240141 - CDS Synonymous[Lys787Lys]
2593 .. 2593 C/T rs111652485 + CDS Nonsynonymous[Arg798Cys]
2611 .. 2611 A/C rs2240140 - CDS Nonsynonymous[Thr804Pro]
2621 .. 2621 A/C rs147312180 + CDS Nonsynonymous[Lys807Thr]
2630 .. 2630 C/T rs140913607 + CDS Nonsynonymous[Thr810Met]
2631 .. 2631 G/A rs201122181 + CDS Synonymous[Thr810Thr]
2644 .. 2644 A/G rs149861293 + CDS Nonsynonymous[Ser815Gly]
2663 .. 2663 C/T rs200234268 + CDS Nonsynonymous[Pro821Leu]
2702 .. 2702 G/T rs145855175 + CDS Nonsynonymous[Ser834Ile]
2726 .. 2726 C/T rs148934780 + CDS Nonsynonymous[Pro842Leu]
2735 .. 2735 A/C rs142753628 + CDS Nonsynonymous[Lys845Thr]
2750 .. 2750 C/T rs146577989 + CDS Nonsynonymous[Pro850Leu]
2767 .. 2767 A/G rs189121731 + CDS Nonsynonymous[Thr856Ala]
2768 .. 2768 C/G rs12185191 + CDS Nonsynonymous[Thr856Arg]
2785 .. 2785 G/A rs145049321 + CDS Nonsynonymous[Glu862Lys]
2791 .. 2791 T/C rs138061700 + CDS Nonsynonymous[Ser864Pro]
2797 .. 2797 A/G rs113836515 + CDS Nonsynonymous[Thr866Ala]
2799 .. 2799 G/A rs140816073 + CDS Synonymous[Thr866Thr]
2849 .. 2849 C/G rs17136053 + CDS Nonsynonymous[Ser883Cys]
2856 .. 2856 C/T rs202025261 + CDS Synonymous[Thr885Thr]
2883 .. 2883 C/T rs138625234 + CDS Synonymous[Ser894Ser]
2928 .. 2928 A/G rs149248282 + CDS Synonymous[Pro909Pro]
2931 .. 2931 T/C rs147340827 + CDS Synonymous[Ser910Ser]
2948 .. 2948 A/G rs200521800 + CDS Nonsynonymous[Gln916Arg]
2988 .. 2988 C/T rs137907192 + CDS Synonymous[Ser929Ser]
2998 .. 2998 T/G rs143571513 + CDS Nonsynonymous[Ser933Ala]
2999 .. 2999 C/G rs147162731 + CDS Nonsynonymous[Ser933Cys]
3002 .. 3002 C/T rs143202462 + CDS Nonsynonymous[Ser934Phe]
3012 .. 3012 T/A rs141506833 + CDS Nonsynonymous[Ser937Arg]
3022 .. 3022 G/T rs202037877 + CDS Nonsynonymous[Val941Leu]
3027 .. 3027 G/A rs150909021 + CDS Synonymous[Thr942Thr]
3030 .. 3030 G/A rs139385794 + CDS Synonymous[Ser943Ser]
3040 .. 3040 C/T rs34275340 - CDS Nonsynonymous[Pro947Ser]
3048 .. 3048 A/G rs150060690 + CDS Synonymous[Arg949Arg]
3081 .. 3081 A/G rs146559032 + CDS Synonymous[Glu960Glu]
3117 .. 3117 C/T rs202232264 + CDS Synonymous[Ser972Ser]
3127 ^ 3128 -/G rs34156460 + CDS
3189 .. 3189 C/T rs140191989 + CDS Synonymous[Tyr996Tyr]
3200 .. 3200 A/G rs143723102 + CDS Nonsynonymous[Lys1000Arg]
3207 .. 3207 A/G rs146807383 + CDS Synonymous[Gln1002Gln]
3215 .. 3215 C/T rs149089137 + CDS Nonsynonymous[Pro1005Leu]
3230 .. 3230 C/G rs143108783 + CDS Nonsynonymous[Ser1010Cys]
3250 .. 3250 C/T rs200474954 + CDS Nonsynonymous[Pro1017Ser]
3298 .. 3298 C/G rs144062030 + CDS Nonsynonymous[Leu1033Val]
3308 .. 3308 G/C rs72768765 + CDS Nonsynonymous[Cys1036Ser]
3311 .. 3311 C/G rs147008176 + CDS Nonsynonymous[Ala1037Gly]
3334 .. 3334 C/T rs137944971 + CDS Nonsynonymous[Pro1045Ser]
3340 .. 3340 G/A rs150618420 + CDS Nonsynonymous[Glu1047Lys]
3344 .. 3344 G/A rs143398388 + CDS Nonsynonymous[Ser1048Asn]
3364 .. 3364 C/T rs199513983 + CDS Synonymous[Leu1055Leu]
3378 .. 3378 A/T rs201482894 + CDS Synonymous[Gly1059Gly]
3401 .. 3401 A/C rs145894053 + CDS Nonsynonymous[His1067Pro]
3404 .. 3404 G/C rs138424646 + CDS Nonsynonymous[Arg1068Thr]
3431 .. 3431 G/C rs149404678 + CDS Nonsynonymous[Arg1077Thr]
3435 .. 3435 G/C rs144810909 + CDS Nonsynonymous[Gln1078His]
3447 .. 3447 A/G rs148557286 + CDS Synonymous[Glu1082Glu]
3451 .. 3451 C/T rs142025685 + CDS Nonsynonymous[Pro1084Ser]
3469 .. 3469 T/C rs146146208 + CDS Nonsynonymous[Ser1090Pro]
3485 .. 3485 A/C rs140034138 + CDS Nonsynonymous[Lys1095Thr]
3524 .. 3524 T/C rs143548675 + CDS Nonsynonymous[Leu1108Pro]
3528 .. 3528 A/T rs146818635 + CDS Synonymous[Ala1109Ala]
3536 .. 3536 C/T rs139282933 + CDS Nonsynonymous[Ser1112Phe]
3566 .. 3566 C/T rs190393090 + CDS Nonsynonymous[Ser1122Leu]
3575 .. 3575 C/T rs150009454 + CDS Nonsynonymous[Pro1125Leu]
3577 .. 3577 A/G rs200101853 + CDS Nonsynonymous[Met1126Val]
3624 .. 3624 C/G rs72768766 + CDS Nonsynonymous[Asp1141Glu]
3629 .. 3629 C/T rs148873006 + CDS Nonsynonymous[Ser1143Phe]
3649 .. 3649 T/C rs35402245 - CDS Nonsynonymous[Ser1150Pro]
3650 .. 3650 C/T rs201863537 + CDS Nonsynonymous[Ser1150Leu]
3688 .. 3688 G/C rs149805846 + CDS Nonsynonymous[Glu1163Gln]
3728 .. 3728 C/G rs147634161 + CDS Nonsynonymous[Ala1176Gly]
3731 .. 3731 C/G rs188222132 + CDS Nonsynonymous[Thr1177Ser]
3746 .. 3746 G/T rs117384853 + CDS Nonsynonymous[Arg1182Ile]
3767 .. 3767 C/T rs141976038 + CDS Nonsynonymous[Pro1189Leu]
3772 .. 3772 C/T rs145724668 + CDS Nonsynonymous[Pro1191Ser]
3809 .. 3809 A/T rs9921332 + CDS Nonsynonymous[Lys1203Ile]
3828 .. 3828 G/A rs148192799 + CDS Synonymous[Pro1209Pro]
3834 .. 3834 A/G rs3094775 - CDS Synonymous[Arg1211Arg]
3946 .. 3946 G/A rs150319221 + CDS Nonsynonymous[Ala1249Thr]
3953 .. 3953 A/G rs138286601 + CDS Nonsynonymous[Gln1251Arg]
3972 .. 3972 T/C rs142926194 + CDS Synonymous[Ser1257Ser]
4003 .. 4003 T/G rs146157205 + CDS Nonsynonymous[Phe1268Val]
4005 .. 4005 T/C rs138993052 + CDS Synonymous[Phe1268Phe]
4028 .. 4028 A/G rs141957504 + CDS Nonsynonymous[Glu1276Gly]
4041 .. 4041 G/A rs144705999 + CDS Synonymous[Val1280Val]
4049 .. 4049 C/G rs145759637 + CDS Nonsynonymous[Thr1283Ser]
4075 .. 4075 T/G rs148506290 + CDS Nonsynonymous[Ser1292Ala]
4079 .. 4079 T/C rs202045188 + CDS Nonsynonymous[Leu1293Ser]
4091 .. 4091 A/G rs142889836 + CDS Nonsynonymous[Glu1297Gly]
4097 .. 4097 C/A rs202093728 + CDS Nonsynonymous[Pro1299His]
4106 .. 4106 C/T rs139940019 + CDS Nonsynonymous[Ala1302Val]
4133 .. 4133 C/T rs75894599 + CDS Nonsynonymous[Ser1311Phe]
4142 .. 4142 A/T rs202209628 + CDS Nonsynonymous[His1314Leu]
4154 .. 4154 C/A rs150635813 + CDS Nonsynonymous[Ser1318Tyr]
4179 .. 4179 C/T rs139159574 + CDS Synonymous[Ser1326Ser]
4190 .. 4190 C/T rs201185937 + CDS Nonsynonymous[Pro1330Leu]
4247 .. 4247 C/T rs145200443 + CDS Nonsynonymous[Ser1349Phe]
4312 .. 4312 A/G rs147644005 + CDS Nonsynonymous[Met1371Val]
4316 .. 4316 A/G rs142314036 + CDS Nonsynonymous[Lys1372Arg]
4321 .. 4321 C/A rs185679149 + CDS Nonsynonymous[Gln1374Lys]
4325 .. 4325 C/T rs190790957 + CDS Nonsynonymous[Ser1375Leu]
4329 .. 4329 A/G rs144506322 + CDS Synonymous[Thr1376Thr]
4345 .. 4345 A/G rs112339953 + CDS Nonsynonymous[Ser1382Gly]
4349 .. 4349 G/T rs186863441 + CDS Nonsynonymous[Ser1383Ile]
4362 .. 4362 C/T rs78949014 + CDS Synonymous[Ser1387Ser]
4367 .. 4367 A/C rs148817692 + CDS Nonsynonymous[Asp1389Ala]
4387 .. 4387 A/T rs146717638 + CDS Nonsynonymous[Met1396Leu]
4391 .. 4391 C/T rs147997881 + CDS Nonsynonymous[Ser1397Phe]
4405 .. 4405 A/G rs201268365 + CDS Nonsynonymous[Ile1402Val]
4427 .. 4427 C/A rs141353583 + CDS Nonsynonymous[Ala1409Asp]
4446 .. 4446 G/A rs145082336 + CDS Synonymous[Ser1415Ser]
4450 .. 4450 G/A rs138963537 + CDS Nonsynonymous[Glu1417Lys]
4474 .. 4474 C/G rs142291519 + CDS Nonsynonymous[Pro1425Ala]
4502 .. 4502 C/A rs201475423 + CDS Nonsynonymous[Thr1434Asn]
4532 .. 4532 C/T rs150901142 + CDS Nonsynonymous[Ser1444Phe]
4565 .. 4565 C/T rs138167087 + CDS Nonsynonymous[Ser1455Leu]
4583 .. 4583 G/T rs149555495 + CDS Nonsynonymous[Gly1461Val]
4606 .. 4606 A/G rs200242142 + CDS Nonsynonymous[Ile1469Val]
4612 .. 4612 A/G rs144295249 + CDS Nonsynonymous[Arg1471Gly]
4622 .. 4622 C/T rs140421601 + CDS Nonsynonymous[Ser1474Phe]
4635 .. 4635 C/T rs145238305 + CDS Synonymous[Ser1478Ser]
4657 .. 4657 C/G rs147203120 + CDS Nonsynonymous[Pro1486Ala]
4686 .. 4686 G/A rs140489489 + CDS Synonymous[Pro1495Pro]
4693 .. 4693 C/T rs144544169 + CDS Nonsynonymous[Arg1498Cys]
4694 .. 4694 G/A rs151214324 + CDS Nonsynonymous[Arg1498His]
4699 .. 4699 C/G rs113263000 + CDS Nonsynonymous[Pro1500Ala]
4713 .. 4713 G/A rs199769756 + CDS Synonymous[Glu1504Glu]
4729 .. 4729 C/G rs142674628 + CDS Nonsynonymous[Leu1510Val]
4758 .. 4758 A/G rs192020162 + CDS Synonymous[Ser1519Ser]
4790 .. 4790 G/A rs201226213 + CDS Nonsynonymous[Arg1530Gln]
4814 .. 4814 G/A rs140105305 + CDS Nonsynonymous[Arg1538His]
4824 .. 4824 C/T rs200790269 + CDS Synonymous[Ser1541Ser]
4883 .. 4883 C/T rs28591365 + CDS Nonsynonymous[Ser1561Phe]
4909 .. 4909 C/A rs3094773 - CDS Synonymous[Arg1570Arg]
4928 .. 4928 G/A rs144947349 + CDS Nonsynonymous[Arg1576Lys]
4929 .. 4929 G/T rs199637327 + CDS Nonsynonymous[Arg1576Ser]
4930 .. 4930 A/C rs200532544 + CDS Nonsynonymous[Ser1577Arg]
4934 .. 4934 G/A rs184005236 + CDS Nonsynonymous[Arg1578Gln]
4955 .. 4955 T/C rs186761802 + CDS Nonsynonymous[Val1585Ala]
4978 .. 4978 C/T rs140949496 + CDS Nonsynonymous[Pro1593Ser]
4982 .. 4982 G/A rs144667736 + CDS Nonsynonymous[Arg1594Gln]
4985 .. 4985 G/A rs200200979 + CDS Nonsynonymous[Arg1595His]
4997 .. 4997 G/A rs138982695 + CDS Nonsynonymous[Gly1599Asp]
5040 .. 5040 G/A rs140653692 + CDS Synonymous[Arg1613Arg]
5043 .. 5043 A/G rs143831687 + CDS Synonymous[Ala1614Ala]
5060 .. 5060 C/T rs148157976 + CDS Nonsynonymous[Ser1620Phe]
5090 .. 5090 G/A rs141845538 + CDS Nonsynonymous[Arg1630Gln]
5105 .. 5105 G/A rs150180960 + CDS Nonsynonymous[Arg1635Gln]
5117 .. 5117 G/A rs199512886 + CDS Nonsynonymous[Gly1639Asp]
5139 .. 5139 C/T rs139031697 + CDS Synonymous[Gly1646Gly]
5147 .. 5147 C/A rs143147054 + CDS Nonsynonymous[Pro1649His]
5154 .. 5154 A/C rs147477390 + CDS Synonymous[Gly1651Gly]
5169 .. 5169 G/A rs200591665 + CDS Synonymous[Glu1656Glu]
5186 .. 5186 C/T rs150939519 + CDS Nonsynonymous[Pro1662Leu]
5219 .. 5219 G/A rs140527765 + CDS Nonsynonymous[Arg1673Lys]
5229 .. 5229 A/G rs149288106 + CDS Synonymous[Pro1676Pro]
5258 .. 5258 C/T rs140707916 + CDS Nonsynonymous[Pro1686Leu]
5261 .. 5261 G/A rs148468731 + CDS Nonsynonymous[Arg1687Gln]
5263 .. 5263 C/T rs182679901 + CDS Nonsynonymous[Arg1688Cys]
5280 .. 5280 A/G rs142684862 + CDS Synonymous[Ser1693Ser]
5282 .. 5282 C/T rs201186020 + CDS Nonsynonymous[Ser1694Phe]
5286 .. 5286 G/A rs187050172 + CDS Synonymous[Pro1695Pro]
5314 .. 5314 C/T rs146437403 + CDS Nonsynonymous[Arg1705Cys]
5318 .. 5318 G/A rs79121344 + CDS Nonsynonymous[Arg1706Lys]
5323 .. 5323 C/T rs139806283 + CDS Nonsynonymous[Arg1708Cys]
5324 .. 5324 G/A rs143301377 + CDS Nonsynonymous[Arg1708His]
5350 .. 5350 C/T rs146687503 + CDS Nonsynonymous[Arg1717Cys]
5351 .. 5351 G/A rs140673352 + CDS Nonsynonymous[Arg1717His]
5408 .. 5408 C/T rs192822621 + CDS Nonsynonymous[Ala1736Val]
5432 .. 5432 G/A rs200616521 + CDS Nonsynonymous[Arg1744Gln]
5437 .. 5437 C/T rs150445530 + CDS Nonsynonymous[Arg1746Cys]
5456 .. 5456 G/C rs114848780 + CDS Nonsynonymous[Arg1752Pro]
5468 .. 5468 C/T rs149231148 + CDS Nonsynonymous[Thr1756Ile]
5488 .. 5488 C/G rs150125490 + CDS Nonsynonymous[Pro1763Ala]
5494 .. 5494 C/T rs201624334 + CDS Nonsynonymous[Pro1765Ser]
5500 .. 5500 C/T rs139065837 + CDS Nonsynonymous[Pro1767Ser]
5503 .. 5503 C/T rs200815139 + CDS Nonsynonymous[Arg1768Cys]
5526 .. 5526 C/T rs201661176 + CDS Synonymous[Ser1775Ser]
5560 .. 5560 C/T rs142967354 + CDS Nonsynonymous[Arg1787Cys]
5595 .. 5595 T/C rs199990052 + CDS Synonymous[Ser1798Ser]
5608 .. 5608 C/T rs200295693 + CDS Nonsynonymous[Arg1803Trp]
5624 .. 5624 C/T rs202144562 + CDS Nonsynonymous[Ser1808Leu]
5627 .. 5627 G/A rs147066050 + CDS Nonsynonymous[Arg1809Gln]
5636 .. 5636 G/A rs200176718 + CDS Nonsynonymous[Arg1812Gln]
5641 .. 5641 C/T rs138352897 + CDS Nonsynonymous[Arg1814Trp]
5647 .. 5647 G/A rs141259413 + CDS Nonsynonymous[Gly1816Arg]
5662 .. 5662 C/T rs201853767 + CDS Nonsynonymous[His1821Tyr]
5706 .. 5706 T/C rs138735123 + CDS Synonymous[Ser1835Ser]
5719 .. 5719 G/T rs139141171 + CDS Nonsynonymous[Gly1840Cys]
5723 .. 5723 G/A rs199890769 + CDS Nonsynonymous[Arg1841His]
5729 .. 5729 G/A rs149546164 + CDS Nonsynonymous[Arg1843Gln]
5753 .. 5753 G/A rs200772805 + CDS Nonsynonymous[Arg1851His]
5764 .. 5764 C/T rs146025030 + CDS Nonsynonymous[Arg1855Cys]
5776 .. 5776 G/A rs139825537 + CDS Nonsynonymous[Ala1859Thr]
5781 .. 5781 G/A rs143130968 + CDS Synonymous[Pro1860Pro]
5816 .. 5816 C/T rs200333456 + CDS Nonsynonymous[Thr1872Ile]
5821 .. 5821 C/T rs146698076 + CDS Nonsynonymous[Arg1874Trp]
5826 .. 5826 A/G rs148417227 + CDS Synonymous[Arg1875Arg]
5846 .. 5846 T/C rs201870119 + CDS Nonsynonymous[Leu1882Pro]
5857 .. 5857 C/T rs77226128 + CDS Nonsynonymous[Arg1886Cys]
5858 .. 5858 G/A rs142561510 + CDS Nonsynonymous[Arg1886His]
5896 .. 5896 C/A rs151100831 + CDS Synonymous[Arg1899Arg]
5929 .. 5929 A/C rs141032018 + CDS Synonymous[Arg1910Arg]
5949 .. 5949 C/T rs200609731 + CDS Synonymous[Ser1916Ser]
5964 .. 5964 G/A rs146909884 + CDS Synonymous[Arg1921Arg]
5982 .. 5982 G/A rs147947399 + CDS Synonymous[Thr1927Thr]
5989 .. 5989 G/A rs141551823 + CDS Nonsynonymous[Val1930Ile]
6024 .. 6024 A/C rs147023576 + CDS Synonymous[Thr1941Thr]
6031 .. 6031 C/T rs200196660 + CDS Nonsynonymous[Arg1944Cys]
6035 .. 6035 G/A rs201970772 + CDS Nonsynonymous[Arg1945His]
6041 .. 6041 G/A rs200895450 + CDS Nonsynonymous[Arg1947His]
6113 .. 6113 G/A rs147093378 + CDS Nonsynonymous[Arg1971Gln]
6136 .. 6136 C/G rs200336431 + CDS Nonsynonymous[Arg1979Gly]
6185 .. 6185 G/A rs111312335 + CDS Nonsynonymous[Arg1995Gln]
6191 .. 6191 G/A rs138447860 + CDS Nonsynonymous[Arg1997His]
6192 .. 6192 C/T rs149175039 + CDS Synonymous[Arg1997Arg]
6221 .. 6221 G/A rs199749070 + CDS Nonsynonymous[Arg2007His]
6222 .. 6222 C/T rs143282684 + CDS Synonymous[Arg2007Arg]
6227 .. 6227 G/A rs202103463 + CDS Nonsynonymous[Arg2009Gln]
6243 .. 6243 A/G rs148042295 + CDS Synonymous[Thr2014Thr]
6250 .. 6250 C/T rs201534904 + CDS Nonsynonymous[Arg2017Cys]
6251 .. 6251 G/A rs141721695 + CDS Nonsynonymous[Arg2017His]
6262 .. 6262 C/T rs200267866 + CDS Nonsynonymous[Arg2021Trp]
6284 .. 6284 G/A rs199611423 + CDS Nonsynonymous[Arg2028His]
6286 .. 6286 C/T rs146035659 + CDS Nonsynonymous[Arg2029Cys]
6299 .. 6299 G/C rs117133016 + CDS Nonsynonymous[Arg2033Pro]
6303 .. 6303 G/A rs141536792 + CDS Synonymous[Thr2034Thr]
6322 .. 6322 C/T rs146196610 + CDS Nonsynonymous[Arg2041Cys]
6329 .. 6329 G/A rs139028253 + CDS Nonsynonymous[Arg2043Gln]
6334 .. 6334 C/T rs149912035 + CDS Nonsynonymous[Arg2045Cys]
6335 .. 6335 G/A rs201531430 + CDS Nonsynonymous[Arg2045His]
6342 .. 6342 A/G rs143935372 + CDS Synonymous[Pro2047Pro]
6344 .. 6344 T/G rs200748735 + CDS Nonsynonymous[Leu2048Arg]
6355 .. 6355 C/T rs148774293 + CDS Nonsynonymous[Arg2052Cys]
6356 .. 6356 G/C rs201843028 + CDS Nonsynonymous[Arg2052Pro]
6358 .. 6358 C/T rs144129267 + CDS Nonsynonymous[Arg2053Cys]
6370 .. 6370 C/T rs144781002 + CDS Nonsynonymous[Arg2057Cys]
6380 .. 6380 G/A rs201485562 + CDS Nonsynonymous[Arg2060Gln]
6403 .. 6403 T/G rs147957204 + CDS Nonsynonymous[Leu2068Val]
6415 .. 6415 C/T rs34563620 - CDS Nonsynonymous[Pro2072Ser]
6418 .. 6418 C/G rs201738422 + CDS Nonsynonymous[Pro2073Ala]
6456 .. 6456 T/G rs141905846 + CDS Synonymous[Ser2085Ser]
6460 .. 6460 C/T rs145649325 + CDS Nonsynonymous[Arg2087Cys]
6461 .. 6461 G/A rs200846532 + CDS Nonsynonymous[Arg2087His]
6481 .. 6481 C/T rs151045014 + CDS Nonsynonymous[Pro2094Ser]
6509 .. 6509 G/A rs200667335 + CDS Nonsynonymous[Arg2103Gln]
6514 .. 6514 C/T rs140925396 + CDS Nonsynonymous[Pro2105Ser]
6529 .. 6529 A/C rs150225718 + CDS Nonsynonymous[Asn2110His]
6533 .. 6533 G/A rs138772377 + CDS Nonsynonymous[Ser2111Asn]
6542 .. 6542 T/C rs149088828 + CDS Nonsynonymous[Met2114Thr]
6557 .. 6557 G/A rs115704251 + CDS Nonsynonymous[Arg2119His]
6577 .. 6577 C/T rs201534509 + CDS Nonsynonymous[Pro2126Ser]
6615 .. 6615 C/G rs144378555 + CDS Synonymous[Pro2138Pro]
6621 .. 6621 C/T rs138669456 + CDS Synonymous[Gly2140Gly]
6637 .. 6637 A/G rs141896592 + CDS Nonsynonymous[Met2146Val]
6643 .. 6643 G/C rs201020156 + CDS Nonsynonymous[Val2148Leu]
6681 .. 6681 A/G rs146267922 + CDS Synonymous[Pro2160Pro]
6783 .. 6783 G/A rs202095679 + CDS Synonymous[Arg2194Arg]
6791 .. 6791 C/T rs147987022 + CDS Nonsynonymous[Pro2197Leu]
6792 .. 6792 G/A rs118057303 + CDS Synonymous[Pro2197Pro]
6810 .. 6810 C/T rs61747729 + CDS Synonymous[Gly2203Gly]
6888 .. 6888 C/T rs141611303 + CDS Synonymous[Ala2229Ala]
6908 .. 6908 C/G rs150538327 + CDS Nonsynonymous[Ser2236Cys]
6928 .. 6928 G/C rs139489601 + CDS Nonsynonymous[Ala2243Pro]
6954 .. 6954 A/G rs111703345 + CDS Synonymous[Pro2251Pro]
6998 .. 6998 C/T rs144301326 + CDS Nonsynonymous[Ala2266Val]
7021 .. 7021 A/C rs147520121 + CDS Synonymous[Arg2274Arg]
7061 .. 7061 C/T rs201366178 + CDS Nonsynonymous[Pro2287Leu]
7074 .. 7074 A/G rs140063935 + CDS Synonymous[Thr2291Thr]
7123 .. 7123 G/T rs145694005 + CDS Nonsynonymous[Ala2308Ser]
7126 .. 7126 C/G rs145393626 + CDS Nonsynonymous[Leu2309Val]
7171 .. 7171 C/T rs61747731 + CDS Nonsynonymous[Pro2324Ser]
7172 .. 7172 C/T rs149143366 + CDS Nonsynonymous[Pro2324Leu]
7178 .. 7178 G/A rs142253143 + CDS Nonsynonymous[Ser2326Asn]
7182 .. 7182 C/T rs148311081 + CDS Synonymous[Ser2327Ser]
7205 .. 7205 C/T rs140636308 + CDS Nonsynonymous[Ser2335Phe]
7240 .. 7240 A/G rs145687108 + CDS Nonsynonymous[Thr2347Ala]
7243 .. 7243 G/C rs202142708 + CDS Nonsynonymous[Ala2348Pro]
7260 .. 7260 C/T rs146736691 + CDS Synonymous[Ala2353Ala]
7271 .. 7271 C/A rs140325892 + CDS Nonsynonymous[Thr2357Asn]
7291 .. 7291 G/A rs141409262 + CDS Nonsynonymous[Ala2364Thr]
7293 .. 7293 G/A rs150380100 + CDS Synonymous[Ala2364Ala]
7303 .. 7303 A/G rs138065295 + CDS Nonsynonymous[Ser2368Gly]
7316 .. 7316 C/T rs200491858 + CDS Nonsynonymous[Ala2372Val]
7338 .. 7338 C/G rs200294849 + CDS Nonsynonymous[Asn2379Lys]
7339 .. 7339 C/G rs149458303 + CDS Nonsynonymous[Leu2380Val]
7354 .. 7354 G/A rs199897709 + CDS Nonsynonymous[Val2385Met]
7356 .. 7356 G/T rs143051290 + CDS Synonymous[Val2385Val]
7398 .. 7398 A/G rs148190342 + CDS Synonymous[Pro2399Pro]
7403 .. 7403 T/G rs142769330 + CDS Nonsynonymous[Leu2401Arg]
7433 .. 7433 C/T rs202220480 + CDS Nonsynonymous[Pro2411Leu]
7434 .. 7434 G/A rs147372277 + CDS Synonymous[Pro2411Pro]
7460 .. 7460 C/T rs150813518 + CDS Nonsynonymous[Thr2420Ile]
7485 .. 7485 C/T rs188455100 + CDS Synonymous[Ser2428Ser]
7522 .. 7522 C/G/T rs61747730 + CDS
7527 .. 7527 A/G rs150696085 + CDS Synonymous[Pro2442Pro]
7539 .. 7539 G/C rs139940544 + CDS Nonsynonymous[Gln2446His]
7552 .. 7552 G/A rs183624954 + CDS Nonsynonymous[Val2451Met]
7624 .. 7624 C/T rs149851037 + CDS Nonsynonymous[Leu2475Phe]
7642 .. 7642 G/A rs145730302 + CDS Nonsynonymous[Ala2481Thr]
7653 .. 7653 G/A rs139501890 + CDS Synonymous[Thr2484Thr]
7655 .. 7655 C/T rs139637110 + CDS Nonsynonymous[Ser2485Phe]
7674 .. 7674 T/C rs200929944 + CDS Synonymous[Asn2491Asn]
7706 .. 7706 C/T rs146566461 + CDS Nonsynonymous[Pro2502Leu]
7727 .. 7727 C/T rs140345349 + CDS Nonsynonymous[Pro2509Leu]
7728 .. 7728 A/C rs200386283 + CDS Synonymous[Pro2509Pro]
7733 .. 7733 C/G rs200261518 + CDS Nonsynonymous[Ala2511Gly]
7738 .. 7738 A/G rs144257955 + CDS Nonsynonymous[Thr2513Ala]
7748 .. 7748 A/T rs150982386 + CDS Nonsynonymous[Gln2516Leu]
7759 .. 7759 G/A rs112321557 + CDS Nonsynonymous[Ala2520Thr]
7769 .. 7769 C/G rs117824484 + CDS Nonsynonymous[Ala2523Gly]
7808 .. 7808 C/T rs150162425 + CDS Nonsynonymous[Ser2536Leu]
7812 .. 7812 G/A rs202145894 + CDS Synonymous[Ser2537Ser]
7815 .. 7815 G/A rs138683055 + CDS Synonymous[Ser2538Ser]
7832 .. 7832 C/T rs199625043 + CDS Nonsynonymous[Ser2544Phe]
7833 .. 7833 T/G/C/A rs2301802 - CDS
7836 .. 7836 T/C rs146961894 + CDS Synonymous[Ser2545Ser]
7842 .. 7842 A/G rs114814069 + CDS Synonymous[Ser2547Ser]
7848 .. 7848 G/A rs117364218 + CDS Synonymous[Ser2549Ser]
7854 .. 7854 G/C rs149616150 + CDS Synonymous[Ser2551Ser]
7857 .. 7857 C/G rs59593256 + CDS Synonymous[Ser2552Ser]
7863 .. 7863 C/T rs148768052 + CDS Synonymous[Ser2554Ser]
7865 .. 7865 C/G rs141595233 + CDS Nonsynonymous[Ser2555Cys]
7875 .. 7875 C/T rs150899167 + CDS Synonymous[Ser2558Ser]
7901 .. 7901 G/A rs139531579 + CDS Nonsynonymous[Ser2567Asn]
7907 .. 7907 C/T rs144180622 + CDS Nonsynonymous[Pro2569Leu]
7925 .. 7925 C/T rs188772095 + CDS Nonsynonymous[Ala2575Val]
7972 .. 7972 C/A rs200668425 + CDS Synonymous[Arg2591Arg]
7988 .. 7988 C/T rs111694508 + CDS Nonsynonymous[Pro2596Leu]
8036 .. 8036 C/A rs140101717 + CDS Nonsynonymous[Ser2612Tyr]
8042 .. 8042 C/G rs181155993 + CDS Nonsynonymous[Ser2614Cys]
8046 .. 8046 C/G rs149795306 + CDS Synonymous[Ser2615Ser]
8058 .. 8058 C/A rs145020191 + CDS Synonymous[Ser2619Ser]
8064 .. 8064 C/T rs200174658 + CDS Synonymous[Ser2621Ser]
8067 .. 8067 C/T rs149079434 + CDS Synonymous[Ser2622Ser]
8076 .. 8076 C/T rs142230842 + CDS Synonymous[Ser2625Ser]
8100 .. 8100 T/C rs149101693 + CDS Synonymous[Ser2633Ser]
8105 .. 8105 C/A rs141137959 + CDS Nonsynonymous[Ser2635Tyr]
8115 .. 8115 C/T rs79439891 + CDS Synonymous[Ser2638Ser]
8127 .. 8127 C/T rs137907299 + CDS Synonymous[Ser2642Ser]
8131 .. 8131 T/A rs140798832 + CDS Nonsynonymous[Ser2644Thr]
8133 .. 8133 G/C rs150110237 + CDS Synonymous[Ser2644Ser]
8136 .. 8136 G/A rs138907366 + CDS Synonymous[Ser2645Ser]
8161 .. 8161 C/T rs149396639 + CDS Nonsynonymous[Pro2654Ser]
8189 .. 8189 C/T rs146395889 + CDS Nonsynonymous[Ala2663Val]
8202 .. 8202 G/A rs138453509 + CDS Synonymous[Lys2667Lys]
8205 .. 8205 A/G rs201732161 + CDS Synonymous[Pro2668Pro]
8210 .. 8210 C/T rs143056248 + CDS Nonsynonymous[Pro2670Leu]
8227 .. 8227 C/T rs182217445 + CDS Nonsynonymous[Arg2676Cys]
8236 .. 8236 C/T rs146073868 + CDS Nonsynonymous[Arg2679Trp]
8265 .. 8265 T/C rs201043562 + CDS Synonymous[Ser2688Ser]
8292 .. 8292 G/C rs140014992 + CDS Nonsynonymous[Glu2697Asp]
8299 .. 8299 C/T rs116681042 + CDS Nonsynonymous[Arg2700Cys]
8306 .. 8306 C/T rs202157859 + CDS Nonsynonymous[Ser2702Leu]
8316 .. 8316 C/G rs35899615 + CDS Synonymous[Pro2705Pro]
8323 .. 8323 C/T rs139579060 + CDS Nonsynonymous[Arg2708Trp]
8330 .. 8330 A/G rs149708987 + CDS Nonsynonymous[Gln2710Arg]
8354 .. 8354 G/A rs141491827 + CDS Nonsynonymous[Gly2718Asp]
8401 .. 8401 C/T rs145292552 + CDS Nonsynonymous[Arg2734Cys]
8416 .. 8416 C/T rs138495768 + CDS Nonsynonymous[Pro2739Ser]
8432 .. 8432 T/C rs201652624 + CDS Nonsynonymous[Met2744Thr]
8440 .. 8440 C/T rs201174755 + CDS Nonsynonymous[Arg2747Cys]
8474 .. 8474 G/T rs1050134 + 3'UTR
8484 .. 8484 C/T rs191241080 + 3'UTR
8510 .. 8510 G/T rs201582275 + 3'UTR
8600 .. 8600 C/T rs138948846 + 3'UTR
8615 .. 8615 T/C rs78617860 + 3'UTR
8616 .. 8616 C/T rs11551731 - 3'UTR
8692 .. 8692 A/G rs111748580 + 3'UTR
8707 .. 8707 G/T rs75586278 + 3'UTR
8745 .. 8745 G/C rs112074102 + 3'UTR
8782 .. 8782 A/C rs149417935 + 3'UTR
8827 .. 8827 G/A rs183204995 + 3'UTR
8843 .. 8843 G/A rs8843 + 3'UTR
8888 .. 8888 C/T rs199911255 + 3'UTR
8927 .. 8927 C/T rs1050195 + 3'UTR
8965 .. 8965 G/C rs188485694 + 3'UTR
8974 .. 8974 T/C rs116928678 + 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  Repeat mask viewer
Type Start End Strand
MIRb 570 654 +
MamRTE1 6190 6273 -
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer