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H-Invitational ID: HIT000001156 Accession number: AB037862 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Zinc finger protein 687;

		Select format Flat file XML file Nucleotide sequence fasta Protein sequence fasta

Transcript original information Accession number AB037862.1 CAGE tag ID NA EST ID NA Clone Number hg02860b Experimental resources   NBRC ; HGPD ; Antibody (ZNF687) ; Catalog (ZNF687); Sequence data provider Provider:KDRI;  Annotation project H-Invitational FLcDNA Length of cDNA 5378[bp] (No. of exon:10)[A:1070 T:1173 G:1492 C:1643] Devision HUM Molecular type mRNA Library origin Cell type NA Tissue type brain Develpmental stage NA

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) NA Transcript quality feature NA Notes NA

GGCCGCGGGGAGGGCGGCGGTGGCTGCAGCGGCTGGAGCGGGGTAGAGAC CGCCGGGTCTCGGCCCGCACCAGGAGCGGAACAACCTTTCAGATCTGTGT GGACCCCAGAAGATCCGTGAAGAATATGAATTGATTCCATGTGGACATGA ATGAGTCCTTAAACCTAGAACATCATGTACATCATCCTCCTTAATAATAG TATTGATTATTTGGTTCTATGCTGGGGACCGGAGGGGATGAGATGGTTTC CACCAGAATGCTCACTGAGCTCTATTACCCTTCCCTGTTCCCTGTATTTT TTTTTTTTTTCTGAGACAGTCTTGCTCTGTCGCCCAGGTGGGAGTGCAGT GGCACGATCTCAGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCAATTC TTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCTGCCATG CCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATCTTGGC CAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCTGCCTCCC CAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCCCTATATTT CTTTTTTTTGAGACAGGGTCTCGCTCTGTCCAGGCTGGAGTGCAGTGGCG TGATCTTGGCTCATTGAAACCTCAACCTCATGGGTTCAGGCGATTCTCCT GCCTCAGCCTCCTTTGTAGCTGCGATTACAGGCATGTGCCACCACACCTG TCTAGTTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAA GCTGGTCTCAAACTCCTGACCTCAAGTGATCCATCTGCCTCAGCCTCCCA AAACGCTGGGATTACAAGCATGAGCCACCGCACCTGGCCCCTTCCCTGTA TTTCTAAGAACTCTCTTTTCCCCTGCTTTCTCTGGATTTTGGAGCCCACC AAGGTCTGGGATCTGCCGATATGGGGGATATGAAGACCCCTGATTTTGAT GACCTCCTTGCTGCCTTTGACATCCCTGACATTGATGCGAATGAAGCCAT CCATTCTGGGCCAGAAGAAAATGAGGGGCCTGGAGGCCCAGGGAAGCCAG AACCAGGTGTAGGAAGTGAATCTGAAGACACAGCAGCAGCCTCTGCTGGG GATGGCCCTGGAGTTCCAGCCCAGGCCTCTGACCATGGCCTGCCACCGCC AGACATTTCTGTAGTCAGTGTCATTGTCAAGAACACTGTGTGTCCCGAGC AGTCTGAGGCCCTGGCTGGAGGCTCAGCAGGAGACGGGGCCCAGGCTGCT GGGGTAACTAAAGAAGGGCCTGTGGGGCCTCATCGAATGCAGAATGGTTT TGGGAGCCCTGAACCTTCCCTCCCAGGAACTCCCCACTCTCCTGCTCCTC CCAGTGGGGGCACCTGGAAAGAAAAAGGCATGGAAGGCAAAACTCCCTTG GACCTGTTTGCTCATTTTGGCCCTGAGCCAGGGGACCACTCAGATCCGCT GCCTCCCTCTGCACCCTCTCCCACTCGGGAGGGGGCTCTGACCCCGCCTC CTTTCCCCTCTTCCTTTGAGCTGGCCCAGGAGAATGGCCCAGGCATGCAG CCACCTGTTTCTTCCCCACCATTGGGGGCCTTGAAGCAGGAGAGCTGCAG CCCCCATCATCCCCAGGTCCTAGCCCAACAAGGCTCAGGCTCCAGCCCTA AGGCCACGGACATCCCTGCCAGTGCCTCGCCTCCCCCAGTTGCTGGGGTG CCCTTCTTCAAGCAGTCTCCAGGGCACCAGAGCCCTCTTGCCTCCCCCAA AGTGCCCGTCTGTCAGCCCTTGAAGGAAGAAGATGATGATGAGGGGCCAG TGGACAAGTCTTCCCCAGGAAGTCCCCAGAGTCCCTCTAGTGGGGCCGAG GCTGCAGATGAGGACAGCAATGACTCCCCTGCCTCCAGCTCCTCTAGGCC TCTTAAGGTGCGGATCAAGACCATTAAAACATCCTGCGGGAATATCACAA GGACTGTAACTCAGGTCCCCTCAGATCCTGATCCACCTGCCCCCTTGGCT GAGGGGGCCTTCTTGGCTGAGGCTAGCCTCTTGAAGCTGTCCCCTGCAAC ACCTACTTCTGAGGGTCCAAAGGTGGTGAGCGTACAGTTGGGTGATGGTA CAAGGCTGAAAGGCACTGTGCTGCCTGTGGCCACCATCCAGAACGCCAGT ACTGCCATGCTGATGGCAGCCAGTGTGGCTCGCAAGGCTGTGGTGCTGCC TGGGGGGACTGCCACCAGCCCTAAGATGATTGCTAAGAACGTGCTAGGCC TGGTGCCCCAAGCCCTGCCTAAGGCTGACGGGCGGGCAGGGCTGGGGACT GGGGGACAGAAGGTGAATGGTGCCTCGGTGGTGATGGTGCAACCTTCAAA GACAGCTACTGGGCCAAGTACAGGGGGCGGCACAGTGATATCACGGACCC AGTCCAGCCTGGTGGAGGCCTTCAACAAGATCCTCAACAGCAAGAACCTG CTCCCTGCCTATAGGCCAAACCTGAGCCCACCAGCTGAGGCTGGGCTGGC CCTGCCTCCCACCGGCTACCGCTGCCTGGAGTGTGGGGATGCCTTCTCAT TGGAGAAGAGCCTGGCACGGCACTATGACCGTCGGAGCATGCGCATCGAG GTCACCTGCAACCACTGCGCCCGCCGCCTGGTCTTCTTCAACAAGTGCAG CCTGCTCCTGCATGCACGTGAACACAAGGACAAGGGGCTCGTCATGCAGT GCTCACATTTGGTCATGAGGCCTGTAGCCCTTGACCAGATGGTGGGGCAG CCGGACATCACACCGCTGCTGCCTGTAGCTGTCCCACCTGTCTCTGGACC TCTGGCCTTGCCTGCCTTGGGCAAGGGTGAGGGGGCCATCACCTCCTCTG CCATTACTACAGTTGCTGCTGAGGCCCCTGTCCTGCCGCTCTCCACAGAG CCGCCTGCTGCCCCGGCCACCTCTGCTTACACATGCTTTCGCTGCCTGGA GTGCAAGGAACAGTGCCGGGACAAGGCTGGCATGGCAGCTCACTTCCAGC AGCTCGGCCCCCCTGCCCCTGGGGCCACCAGCAATGTGTGCCCAACCTGC CCCATGATGCTCCCCAATCGCTGCAGCTTCAGCGCCCACCAGCGCATGCA TAAGAATCGACCCCCCCATGTCTGTCCTGAGTGTGGGGGCAACTTCCTGC AAGCCAATTTTCAGACCCATCTCCGGGAGGCCTGTCTGCACGTCTCTCGC CGTGTAGGATACAGGTGCCCCAGCTGTTCAGTGGTGTTTGGGGGTGTGAA CTCCATCAAGTCCCACATCCAGACGTCGCACTGCGAGGTTTTCCACAAGT GCCCCATCTGCCCCATGGCCTTCAAGTCTGGGCCAAGTGCCCATGCCCAC CTCTACTCCCAGCATCCCAGCTTCCAAACTCAGCAGGCCAAGCTGATCTA CAAGTGCGCCATGTGCGACACAGTCTTCACTCACAAACCCCTCCTCTCCT CACACTTCGACCAGCACTTGCTGCCCCAGCGTGTCAGTGTCTTTAAGTGC CCGTCTTGTCCTCTGCTCTTTGCCCAAAAAAGGACCATGCTGGAACATCT CAAGAACACCCATCAGTCTGGGCGCTTGGAGGAGACTGCTGGGAAAGGGG CCGGGGGTGCCCTGCTGACCCCCAAGACTGAGCCTGAGGAGCTGGCTGTT TCTCAGGGAGGGGCAGCCCCTGCTACTGAGGAGTCGTCTTCATCTTCAGA AGAGGAGGAAGTACCCAGCTCCCCTGAGCCCCCCCGTCCAGCCAAACGGC CTCGGCGGGAACTAGGGAGCAAAGGCCTCAAGGGTGGGGGTGGGGGGCCT GGAGGCTGGACCTGTGGCCTGTGTCACTCCTGGTTCCCTGAGCGTGATGA ATACGTGGCCCACATGAAGAAGGAGCATGGCAAGTCAGTGAAAAAGTTCC CCTGTCGCCTGTGTGAGCGCTCCTTCTGCTCCGCCCCCAGCCTGAGGCGC CATGTCAGAGTTAATCACGAGGGCATCAAGCGAGTTTACCCCTGCAGGTA TTGCACAGAGGGAAAACGCACCTTCAGCAGCCGCCTGATCCTAGAGAAAC ATGTCCAGGTCCGGCACGGCTTGCAGCTTGGGGCCCAGTCCCCTGGCCGG GGGACCACCTTGGCTCGGGGTTCCAGTGCCAGAGCCCAGGGGCCAGGTCG GAAACGCCGCCAGTCTTCTGACTCTTGCAGTGAGGAGCCTGACAGCACGA CACCGCCAGCCAAGTCCCCCAGGGGCGGACCTGGATCTGGAGGCCATGGC CCTCTGCGCTACCGGAGCAGCAGCTCCACAGAACAGAGCCTCATGATGGG GTTGAGGGTGGAGGATGGTGCCCAGCAGTGCCTCGACTGTGGCTTGTGCT TTGCCTCCCCTGGCTCCCTGAGCCGACACCGTTTCATCAGCCACAAGAAG AGACGGGGTGTGGGTAAAGCCAGTGCCCTGGGGCTGGGGGATGGGGAGGA AGAGGCCCCTCCATCAAGGTCTGACCCCGATGGTGGAGACTCACCCCTGC CTGCTTCTGGAGGCCCACTGACCTGTAAGGTCTGTGGCAAGAGCTGCGAC AGCCCTCTAAACCTCAAGACCCACTTCCGCACGCATGGCATGGCGTTCAT CAGGGCTCGGCAGGGGGCTGTTGGGGACAACTAGTCTCCAAGGCCTGGGA CTGACCAGCCCCTTCCTCTTGGAGCCTGGTTTTCCCTACTGCTGCCTGAT CCCTCGGCTGGGGAGTTTTCATTAACATTAGTATTTTGTTAATTCCTGTC TCTCCAACCTGAAGAAGAAGAGCATTTGAGGATTATTCTAGTTATTTGCA ACCTCCCTTTGGGTTTGGCCCTGGAGTCCTAGTAGAGTGGACCCTCCATT CCTCCTTTCTGAGCCCAACACTAATTAATTTTATGCTCCTGCTGCAGAAC CCCCAGTGTGGGCCTGGGGGTGGGAGGATGGGACTTAGGTATGCCTGCTA GACAGGTTCAGGGAAGGACTGATGGGGGTGTCATGGATGGACACACCTCT CCACAATTCCTTCAGGCATGGACTGGAACTTTCCTCCTCTAGGCCGGGCC CTGCCCTAGTGCCCACCCCCGCCCCCGCCCCCGCCCAACCCCAACTCACT GGCACTCAAGCCCCCTACCCCTGCAGTGCCTTTCACTTCTTTTTTTCCCC AGAAATCCGGGGCGGGGGGGTGGGGGGTTGGTAGGGATGAGTCCTGTCAA GGGGGCCACAGGAGAGGAGGGGACAGGCTCTCAGGAATCCTTTATTCTTG TAGTAATAATAATACTAACAAACAGTTGGGGAACTAGGGAGAAAACCAGA CCATTAAAACTGTTTGTGGTCGAATCTC

Gene structure information

H-Inv cluster ID		HIX0199792
Genomic location	Chromosome	1
	Location	1q21.3
	Position	151254788- 151264379
	Strand	+
Possible duplicated location(s)		NA
Gene structure		10 exon(s)
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:57592;
	KEGG GENES	KEGG GENES(57592);
	GeneCard	ZNF687;  *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 HIP000055458 Predicted CDS 971..4684;  1237[aa];  Orientation:+2;  Codon Adaptation Index (CAI). 0.805 Database links RefSeq NP_065883;  UniProt Q8N1G0;  CCDS CCDS992;

MGDMKTPDFDDLLAAFDIPDIDANEAIHSGPEENEGPGGPGKPEPGVGSE SEDTAAASAGDGPGVPAQASDHGLPPPDISVVSVIVKNTVCPEQSEALAG GSAGDGAQAAGVTKEGPVGPHRMQNGFGSPEPSLPGTPHSPAPPSGGTWK EKGMEGKTPLDLFAHFGPEPGDHSDPLPPSAPSPTREGALTPPPFPSSFE LAQENGPGMQPPVSSPPLGALKQESCSPHHPQVLAQQGSGSSPKATDIPA SASPPPVAGVPFFKQSPGHQSPLASPKVPVCQPLKEEDDDEGPVDKSSPG SPQSPSSGAEAADEDSNDSPASSSSRPLKVRIKTIKTSCGNITRTVTQVP SDPDPPAPLAEGAFLAEASLLKLSPATPTSEGPKVVSVQLGDGTRLKGTV LPVATIQNASTAMLMAASVARKAVVLPGGTATSPKMIAKNVLGLVPQALP KADGRAGLGTGGQKVNGASVVMVQPSKTATGPSTGGGTVISRTQSSLVEA FNKILNSKNLLPAYRPNLSPPAEAGLALPPTGYRCLECGDAFSLEKSLAR HYDRRSMRIEVTCNHCARRLVFFNKCSLLLHAREHKDKGLVMQCSHLVMR PVALDQMVGQPDITPLLPVAVPPVSGPLALPALGKGEGAITSSAITTVAA EAPVLPLSTEPPAAPATSAYTCFRCLECKEQCRDKAGMAAHFQQLGPPAP GATSNVCPTCPMMLPNRCSFSAHQRMHKNRPPHVCPECGGNFLQANFQTH LREACLHVSRRVGYRCPSCSVVFGGVNSIKSHIQTSHCEVFHKCPICPMA FKSGPSAHAHLYSQHPSFQTQQAKLIYKCAMCDTVFTHKPLLSSHFDQHL LPQRVSVFKCPSCPLLFAQKRTMLEHLKNTHQSGRLEETAGKGAGGALLT PKTEPEELAVSQGGAAPATEESSSSSEEEEVPSSPEPPRPAKRPRRELGS KGLKGGGGGPGGWTCGLCHSWFPERDEYVAHMKKEHGKSVKKFPCRLCER SFCSAPSLRRHVRVNHEGIKRVYPCRYCTEGKRTFSSRLILEKHVQVRHG LQLGAQSPGRGTTLARGSSARAQGPGRKRRQSSDSCSEEPDSTTPPAKSP RGGPGSGGHGPLRYRSSSSTEQSLMMGLRVEDGAQQCLDCGLCFASPGSL SRHRFISHKKRRGVGKASALGLGDGEEEAPPSRSDPDGGDSPLPASGGPL TCKVCGKSCDSPLNLKTHFRTHGMAFIRARQGAVGDN*

Gene function information

H-Inv ID		HIT000001156
H-Inv cluster ID		HIX0199792
Accession number		AB037862.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		Representative transcript;  Splicing isoform
Coding potential		Protein coding;
Definition		Zinc finger protein 687;
Similarity category		Category: Identical to known human protein(Category I).
		Identical to known human protein (Q8N1G0)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence		Protein evidence
PubMed ID		10718198;  14702039;  15489334;  16710414;  17081983;  17974005;  18669648;  19369195;  19690332;  20068231;  21406692;  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	ZNF687
	HGNC aliases	NA
	HGNC name	zinc finger protein 687
	DDBJ	KIAA1441
	UniProt	ZNF687
EC number		NA
GGDB (GlycoGene Database)	Gene symbol	NA
	Familly	NA
	Designation	NA
	Expression	NA
KEGG metabolic pathway		NA
Protein-protein interaction (PPI)	H-Inv protein ID	HIP000055458
	No. of interaction	14
	Interaction partner(s)	HIP000023319;  HIP000023799;  HIP000023799;  HIP000031586;  HIP000072456;  HIP000074116;  HIP000074116;  HIP000077168;  HIP000090821;  HIP000091245;  HIP000098211;  HIP000110333;  HIP000148057;  HIP000337135;
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	03554;
	IntAct	NA
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:57592;
	KEGG GENES	KEGG GENES(57592);
	GeneCard	ZNF687;  *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	FR065192
Accession
Description
Location
PMID

FR ID	FR320227
Accession
Description
Location
PMID

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;  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 533 585 2cshA1 9e-05 28.0 50/53 g.37.1.1 671 849 1fgjA 1e-11 8.4 267/499 a.138.1.3 963 1073 1fgjA 1e-11 8.4 267/499 a.138.1.3 1185 1222 1zr9A1 1e-04 36.8 38/67 g.37.1.4

Related H-InvDB links GTOP

Gene expression information

Last modified:27-May-2015

Tissue-specific expression			NA
Probe information	AceGene		AGhsB130322;
	Affymetrix GeneChip	HG-Focus	NA
		HG-U133	234924_s_at;
		HG-U133A	NA
		HG-U133A_2	NA
		HG-U133B	234924_s_at;
		HG-U133_Plus_2	234924_s_at;
		HG-U95	40253_at;  78977_at;  85333_at;
		HG-U95A	40253_at;
		HG-U95B	NA
		HG-U95C	NA
		HG-U95D	85333_at;
		HG-U95E	78977_at;
		HG-U95Av2	NA
		HuEx-1_0	2358857;  2358865;  2358866;  2358867;  2358870;  2358872;  2358874;  2358875;  2358877;  2358879;  2358882;  2358883;  2434924;  2434926;
		HuGeneFL	NA
	Agilent	Human 1A Oligo Microarray:PGID215	A_23_P331813;
		Whole Human Genome Oligo Microarray:PGID247	A_23_P331813;
Related H-InvDB links			H-ANGEL;  DNAProbeLocator;

Evolutionary information

Last modified:27-May-2015

Relationship	Species	Accession number	MGI	Links
Orthology	Mus sp. (Mouse)	AK133173		G-integra
Orthology	Bos sp. (Cow)	ENSBTAT00000033811		G-integra
Orthology	Equus sp. (Horse)	ENSECAT00000006166		G-integra
Orthology	Oryzias sp. (Medaka)	ENSORLT00000011974		G-integra
Orthology	Pongo sp. (Orangutan)	ENSPPYT00000001050		G-integra
Orthology	Pan sp. (Chimpanzee)	ENSPTRT00000002382		G-integra
Orthology	Rattus sp. (Rat)	ENSRNOT00000028553		G-integra
Orthology	Takifugu sp. (Fugu)	SINFRUT00000160937		G-integra
Orthology	Macaca sp. (Macaque)	XM_001107415		G-integra
Orthology	Monodelphis sp. (Opossum)	XM_001371386		G-integra
Orthology	Canis sp. (Dog)	XM_540313		G-integra

Phylogenetic tree [View by ATV]	Neighbor-joining (phb)
Related H-InvDB links	Evola;  dN/dS (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 G/A rs12049010 + 5'UTR 142 .. 142 T/C rs4246525 + 5'UTR 191 .. 191 T/C rs11204797 + 5'UTR 230 .. 230 C/T rs150370392 + 5'UTR 270 .. 270 C/T rs200919214 + 5'UTR 272 .. 272 C/G rs115732752 + 5'UTR 350 .. 350 T/G rs7366902 + 5'UTR 355 .. 355 C/T rs193156608 + 5'UTR 418 .. 418 G/A rs138143572 + 5'UTR 475 .. 475 T/C rs184478967 + 5'UTR 513 .. 513 G/T rs143592052 + 5'UTR 518 .. 518 C/A rs112987276 + 5'UTR 640 .. 640 G/A rs111491799 + 5'UTR 717 .. 717 T/C rs116753436 + 5'UTR 720 .. 720 C/G rs186956006 + 5'UTR 880 .. 880 G/A rs57203597 + 5'UTR 968 .. 968 G/A rs199993225 + 5'UTR 970 .. 970 T/C rs149487980 + 5'UTR 976 .. 976 G/T rs41310867 + CDS Synonymous[Gly2Gly] 1045 .. 1045 A/C rs138832237 + CDS Nonsynonymous[Glu25Asp] 1177 .. 1177 C/T rs147442172 + CDS Synonymous[Ala69Ala] 1197 .. 1197 C/T rs142824299 + CDS Nonsynonymous[Pro76Leu] 1219 .. 1219 T/C rs139743519 + CDS Synonymous[Ser83Ser] 1246 .. 1246 C/T rs2298265 - CDS Synonymous[Pro92Pro] 1247 .. 1247 G/A rs201463227 + CDS Nonsynonymous[Glu93Lys] 1285 .. 1285 C/T rs202243324 + CDS Synonymous[Asp105Asp] 1309 ^ 1310 -/A rs34440501 + CDS 1316 .. 1316 G/A/C rs112780836 + CDS 1323 .. 1323 T/G rs200167838 + CDS Nonsynonymous[Val118Gly] 1371 .. 1371 T/G rs200732440 + CDS Nonsynonymous[Leu134Arg] 1380 ^ 1381 -/C rs34659630 + CDS 1443 .. 1443 C/G rs143427475 + CDS Nonsynonymous[Thr158Ser] 1495 .. 1495 T/C rs2298264 - CDS Synonymous[Asp175Asp] 1497 .. 1497 C/T rs61739618 + CDS Nonsynonymous[Pro176Leu] 1544 .. 1544 C/T rs145907313 + CDS Nonsynonymous[Pro192Ser] 1622 .. 1622 T/C rs61744826 + CDS Synonymous[Leu218Leu] 1645 .. 1645 C/G rs138073338 + CDS Nonsynonymous[Ser225Arg] 1654 .. 1654 C/T rs144210894 + CDS Synonymous[Pro228Pro] 1707 .. 1707 C/T rs142028969 + CDS Nonsynonymous[Thr246Met] 1746 .. 1746 G/A rs3748545 + CDS Nonsynonymous[Gly259Glu] 1807 .. 1807 C/T rs151093902 + CDS Synonymous[Pro279Pro] 1808 .. 1808 G/A rs149852671 + CDS Nonsynonymous[Val280Ile] 1831 .. 1831 A/T rs149043825 + CDS Nonsynonymous[Glu287Asp] 1869 .. 1869 G/T rs147172634 + CDS Nonsynonymous[Gly300Val] 1874 .. 1874 C/T rs199758489 + CDS Nonsynonymous[Pro302Ser] 1897 .. 1897 C/T rs146975201 + CDS Synonymous[Ala309Ala] 1923 .. 1923 A/G rs201815616 + CDS Nonsynonymous[Asp318Gly] 1933 .. 1933 C/G rs201291674 + CDS Synonymous[Ala321Ala] 1936 .. 1936 C/T rs3748546 + CDS Synonymous[Ser322Ser] 1948 .. 1948 G/A rs141784082 + CDS Synonymous[Arg326Arg] 1987 .. 1987 C/T rs141982116 + CDS Synonymous[Cys339Cys] 2001 .. 2001 G/C rs12045766 + CDS Nonsynonymous[Arg344Thr] 2049 .. 2049 C/T rs199952503 + CDS Nonsynonymous[Ala360Val] 2058 .. 2058 C/T rs199776443 + CDS Nonsynonymous[Ala363Val] 2102 .. 2102 C/T rs146309011 + CDS Nonsynonymous[Pro378Ser] 2131 .. 2131 C/T rs201223589 + CDS Synonymous[Ser387Ser] 2221 .. 2221 C/T rs200690530 + CDS Synonymous[Ala417Ala] 2257 .. 2257 G/C rs142862333 + CDS Synonymous[Gly429Gly] 2290 .. 2290 C/T rs113419726 + CDS Synonymous[Asn440Asn] 2314 .. 2314 C/G rs140276689 + CDS Synonymous[Ala448Ala] 2333 .. 2333 C/T rs144174264 + CDS Nonsynonymous[Arg455Trp] 2351 .. 2351 G/C rs149906483 + CDS Nonsynonymous[Gly461Arg] 2443 .. 2443 A/T rs144994348 + CDS Synonymous[Ser491Ser] 2488 .. 2488 C/T rs143173486 + CDS Synonymous[Asn506Asn] 2515 .. 2515 G/T rs140419514 + CDS Nonsynonymous[Arg515Ser] 2563 .. 2563 C/A/T rs142842127 + CDS 2647 .. 2647 C/T rs199980156 + CDS Synonymous[Ile559Ile] 2668 .. 2668 C/T rs150653246 + CDS Synonymous[Cys566Cys] 2675 .. 2675 C/T rs202052832 + CDS Nonsynonymous[Arg569Cys] 2677 .. 2677 C/T rs201170717 + CDS Synonymous[Arg569Arg] 2694 .. 2694 A/G rs144793597 + CDS Nonsynonymous[Lys575Arg] 2713 .. 2713 T/C rs140159110 + CDS Synonymous[His581His] 2741 .. 2741 G/A rs147341021 + CDS Nonsynonymous[Val591Ile] 2815 .. 2815 G/A rs201084367 + CDS Synonymous[Pro615Pro] 2875 .. 2875 G/A rs200318956 + CDS Synonymous[Lys635Lys] 2876 .. 2876 G/A rs12745008 + CDS Nonsynonymous[Gly636Ser] 2884 .. 2884 G/T rs149712193 + CDS Synonymous[Gly638Gly] 2890 .. 2890 C/A rs145603153 + CDS Synonymous[Ile640Ile] 2893 .. 2893 C/T rs199695196 + CDS Synonymous[Thr641Thr] 2918 .. 2918 G/A rs138210991 + CDS Nonsynonymous[Ala650Thr] 2941 .. 2941 C/T rs143281246 + CDS Synonymous[Leu657Leu] 2950 .. 2950 G/A rs141479219 + CDS Synonymous[Glu660Glu] 2965 .. 2965 G/A rs201050504 + CDS Synonymous[Pro665Pro] 2990 .. 2990 C/T rs138697540 + CDS Nonsynonymous[Arg674Cys] 3076 .. 3076 C/T rs144082195 + CDS Synonymous[Ala702Ala] 3120 .. 3120 G/A rs201169436 + CDS Nonsynonymous[Arg717His] 3166 .. 3166 C/G rs201573792 + CDS Synonymous[Pro732Pro] 3169 .. 3169 T/C rs112548575 + CDS Synonymous[His733His] 3225 .. 3225 G/A rs149247665 + CDS Nonsynonymous[Arg752Gln] 3293 .. 3293 G/A rs147334222 + CDS Nonsynonymous[Gly775Ser] 3328 .. 3328 G/T rs112048270 + CDS Synonymous[Ser786Ser] 3335 .. 3335 G/T rs181555523 + CDS AA-STOP[Glu789*] 3394 .. 3394 T/C rs111833417 + CDS Synonymous[His808His] 3400 .. 3400 C/T rs200654117 + CDS Synonymous[His810His] 3427 .. 3427 A/C rs115912410 + CDS Nonsynonymous[Gln819His] 3466 .. 3466 C/T rs146722973 + CDS Synonymous[Cys832Cys] 3467 .. 3467 G/A rs201036095 + CDS Nonsynonymous[Asp833Asn] 3508 .. 3508 C/T rs200203393 + CDS Synonymous[Phe846Phe] 3623 .. 3623 C/T rs201237841 + CDS Nonsynonymous[Arg885Cys] 3651 .. 3651 C/T rs41270700 + CDS Nonsynonymous[Ala894Val] 3704 .. 3704 C/A rs146527737 + CDS Nonsynonymous[Gln912Lys] 3780 .. 3780 C/G rs148402804 + CDS Nonsynonymous[Pro937Arg] 3783 .. 3783 C/A rs74472096 + CDS Nonsynonymous[Pro938His] 3806 .. 3806 C/A rs61818002 + CDS Synonymous[Arg946Arg] 3871 .. 3871 G/C rs199686732 + CDS Synonymous[Leu967Leu] 3895 .. 3895 T/G rs201328316 + CDS Synonymous[Arg975Arg] 3904 .. 3904 C/T rs150185392 + CDS Synonymous[Tyr978Tyr] 3920 .. 3920 A/G rs200702265 + CDS Nonsynonymous[Lys984Glu] 3932 .. 3932 A/G rs145709815 + CDS Nonsynonymous[Lys988Glu] 3957 .. 3957 G/A rs147072139 + CDS Nonsynonymous[Arg996His] 3971 .. 3971 T/C rs113388444 + CDS Nonsynonymous[Ser1001Pro] 3982 .. 3982 C/T rs61743287 + CDS Synonymous[Ser1004Ser] 4003 .. 4003 T/C rs181339557 + CDS Synonymous[His1011His] 4032 .. 4032 G/A rs200135685 + CDS Nonsynonymous[Arg1021Gln] 4068 .. 4068 G/A rs199981013 + CDS Nonsynonymous[Arg1033His] 4082 .. 4082 C/T rs141578630 + CDS Nonsynonymous[Arg1038Cys] 4085 .. 4085 C/G rs201848852 + CDS Nonsynonymous[Leu1039Val] 4113 .. 4113 G/A rs201052012 + CDS Nonsynonymous[Arg1048Gln] 4117 .. 4117 C/T rs61740560 + CDS Synonymous[His1049His] 4165 .. 4165 T/C rs149270527 + CDS Synonymous[Ala1065Ala] 4166 .. 4166 C/T rs60042414 + CDS Nonsynonymous[Arg1066Trp] 4168 .. 4168 G/A rs200446513 + CDS Synonymous[Arg1066Arg] 4185 .. 4185 C/G rs139287742 + CDS Nonsynonymous[Ala1072Gly] 4208 .. 4208 C/T rs148677920 + CDS Nonsynonymous[Arg1080Cys] 4225 .. 4225 T/C rs140518195 + CDS Synonymous[Ser1085Ser] 4237 .. 4237 G/C rs199499467 + CDS Nonsynonymous[Glu1089Asp] 4249 .. 4249 G/A rs201368023 + CDS Synonymous[Thr1093Thr] 4253 .. 4253 C/G rs140469369 + CDS Nonsynonymous[Pro1095Ala] 4269 .. 4269 C/T rs147685225 + CDS Nonsynonymous[Pro1100Leu] 4297 .. 4297 T/C rs146670033 + CDS Synonymous[His1109His] 4307 .. 4307 C/T rs191061324 + CDS Nonsynonymous[Arg1113Cys] 4308 .. 4308 G/A rs200803627 + CDS Nonsynonymous[Arg1113His] 4314 .. 4314 G/A rs79366406 + CDS Nonsynonymous[Arg1115Gln] 4321 .. 4321 C/T rs146187071 + CDS Synonymous[Ser1117Ser] 4396 .. 4396 G/C/T rs77014701 + CDS 4405 .. 4405 C/T rs142457404 + CDS Synonymous[Ala1145Ala] 4413 .. 4413 G/C rs199591007 + CDS Nonsynonymous[Gly1148Ala] 4425 .. 4425 G/A rs202109433 + CDS Nonsynonymous[Arg1152Gln] 4430 .. 4430 C/T rs139589523 + CDS Nonsynonymous[Arg1154Cys] 4431 .. 4431 G/A rs3748547 + CDS Nonsynonymous[Arg1154His] 4440 .. 4440 G/C rs61743510 + CDS Nonsynonymous[Ser1157Thr] 4455 .. 4455 G/A rs144644921 + CDS Nonsynonymous[Arg1162Gln] 4457 .. 4457 G/C rs145336478 + CDS Nonsynonymous[Gly1163Arg] 4512 .. 4512 C/T rs142390832 + CDS Nonsynonymous[Pro1181Leu] 4529 .. 4529 G/A rs151299620 + CDS Nonsynonymous[Asp1187Asn] 4597 .. 4597 C/T rs150478719 + CDS Synonymous[Cys1209Cys] 4600 .. 4600 C/T rs141449018 + CDS Synonymous[Asp1210Asp] 4630 .. 4630 C/A rs150008709 + CDS Synonymous[Arg1220Arg] 4645 .. 4645 G/A rs137887486 + CDS Synonymous[Ala1225Ala] 4658 .. 4658 C/T rs143979840 + CDS Nonsynonymous[Arg1230Trp] 4676 ^ 4677 -/ACA rs145032688 + CDS 4694 .. 4694 C/G rs76680844 + 3'UTR 4781 .. 4781 G/A rs10788803 + 3'UTR 4796 .. 4796 C/T rs145209516 + 3'UTR 4819 .. 4819 A/C rs149133961 + 3'UTR 4826 .. 4826 T/C rs183646760 + 3'UTR 4925 .. 4925 T/C rs202108686 + 3'UTR 5046 .. 5046 C/G rs187358374 + 3'UTR 5089 .. 5089 C/T rs145401314 + 3'UTR 5132 .. 5132 C/T rs3811407 + 3'UTR 5303 .. 5303 G/A rs192078842 + 3'UTR 5329 .. 5329 G/C rs111238381 + 3'UTR 5360 ^ 5361 -/TGTT rs142097997 + 3'UTR  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  Type Start End Strand AluSx4 297 590 - AluSz 598 889 - MamRTE1 1106 1226 + Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;