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H-Invitational ID: HIT000087982 Accession number: BC012989 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Similar to Zinc finger protein ZFAT; Zinc finger gene in AITD susceptibility region; Zinc finger protein 406;

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

Transcript original information Accession number BC012989.2 CAGE tag ID NA EST ID NA Clone Number IMAGE:3840083 Experimental resources   NBRC ; HGPD ; Antibody (ZFAT) ; Catalog (ZFAT); Sequence data provider NA Annotation project NA Length of cDNA 4304[bp] (No. of exon:14)[A:1144 T:866 G:1138 C:1156] Devision HUM Molecular type mRNA Library origin Cell type NA Tissue type Placenta, choriocarcinoma Develpmental stage NA

Sequence quality information CDS feature N-truncated Kozak sequence NA PolyA Site: 4267(+) Signal: 4246-4250(+) Vector/adapter sequence NA Frame shift NA Remaining intron NA Splice site acceptor (NAGNAG) NA Transcript quality feature NA Notes NA

GGAGTCTGAGAAGAAAGGGTGTAGATGGAGAGGCGGTGGCCTCACCTCTG CATGCTCCGTGGGAAGCGGCGGAGGCGCCCAGCATCCCTCCTACTCTGCC CTTGGTGGAGGTTTACGAGAAAACACGGCCATCTTTATGTGTAAATGTTG TAACCTCTTCTCACCAAATCAGTCGGAACTCCTCTCCCACGTTTCAGAGA AGCACATGGAAGAAGGGGTTAATGTTGATGAGATTATTATTCCCCTTAGG CCTCTGAGTACACCTGAACCCCCCAACTCAAGCAAAACCAGAGATGAGTT TTTGGTCATGAAGAGGAAGAGAGGCAGGCCTAAGGGGTCCACGAAGAAGT CCAGCACAGAAGAGGAGCTGGCAGAAAACATCGTGAGTCCGACTGAGGAC AGCCCGCTGGCTCCGGAGGAAGGGAACAGCCTGCCTCCAAGCAGCTTGGA GTGTAGCAAGTGCTGTCGGAAGTTCTCCAACACGCGCCAGCTGCGGAAGC ACATCTGCATTATCGTGCTGAATTTGGGTGAGGAGGAAGGAGAAGCAGGT AACGAGTCTGACCTTGAACTAGAAAAGAAGTGTAAGGAAGATGATCGGGA AAAAGCCTCGAAAAGACCACGGTCACAGAAAACAGAGAAAGTCCAGAAGA TCTCAGGAAAGGAGGCCAGACAGCTTTCTGGGGCGAAGAAACCCATCATA AGTGTGGTTTTAACTGCACACGAAGCAATTCCAGGTGCTACCAAGATTGT GCCAGTGGAGGCTGGGCCCCCTGAAACAGGAGCTACAAATTCTGAGACCA CTTCAGCAGACCTGGTGCCTCGGAGAGGCTACCAGGAATACGCCATTCAG CAGACACCTTATGAGCAACCAATGAAGTCAAGCAGGCTAGGTCCCACTCA GCTCAAAATCTTCACTTGTGAATACTGCAACAAGGTCTTCAAGTTCAAGC ACTCGCTGCAGGCCCACCTGAGGATCCACACCAATGAAAAGCCATACAAG TGCCCCCAGTGCAGCTATGCCAGTGCCATCAAGGCCAACCTCAATGTGCA CCTGCGCAAGCACACTGGAGAGAAGTTCGCCTGCGACTATTGCTCGTTCA CCTGCCTGAGCAAGGGCCACCTCAAGGTGCACATCGAGCGAGTGCACAAG AAGATCAAGCAGCACTGCCGCTTCTGCAAGAAGAAGTACTCTGACGTCAA GAACCTCATCAAGCACATCCGAGACGCGCATGACCCACAGGACAAGAAGG TCAAAGAGGCCTTGGACGAGCTCTGCCTGATGACGAGGGAGGGCAAGCGG CAGCTGCTCTATGACTGCCACATCTGTGAGCGCAAGTTCAAGAACGAGCT GGACCGCGACCGCCATATGCTGGTCCACGGAGACAAGTGGCCTTTTGCCT GTGAGCTCTGTGGCCATGGGGCCACCAAGTACCAGGCGCTGGAACTGCAT GTCAGGAAGCACCCCTTCGTGTACGTCTGTGCCGTCTGCCGCAAGAAGTT CGTCAGCTCCATCAGGCTGCGCACCCACATCAAAGAGGTGCACGGGGCTG CCCAGGAGGCCTTGGTCTTCACCAGTTCCATCAACCAGAGCTTCTGCCTC CTGGAACCTGGTGGGGACATCCAGCAAGAAGCTCTGGGGGACCAGCTACA GCTGGTGGAAGAGGAGTTTGCCCTCCAGGGCGTGAATGCACTCAAGGAAG AGGCCTGTCCTGGGGACACTCAGCTGGAGGAGGGCCGGAAGGAGCCGGAG GCCCCTGGGGAAATGCCTGCCCCAGCTGTGCACCTGGCCTCCCCGCAGGC CGAAAGCACAGCCCTGCCACCCTGTGAGCTGGAAACCACCGTGGTCTCCT CCTCAGACCTGCATTCTCAAGAGGTGGTTTCAGATGATTTTTTGTTGAAA AATGATACCTCCTCCGCAGAGGCTCATGCTGCTCCTGAGAAGCCCCCAGA CATGCAGCACAGAAGCTCAGTCCAGACGCAAGGTGAAGTGATCACACTAC TGCTGTCCAAGGCCCAGAGTGCTGGGTCAGATCAGGAAAGCCATGGCGCC CAGAGCCCCCTAGGGGAAGGGCAGAACATGGCTGTGCTTTCAGCTGGTGA CCCAGATCCCAGCAGGTGTCTCAGGTCAAACCCAGCTGAGGCCTCAGACC TCCTCCCTCCAGTAGCTGGTGGTGGGGACACCATCACACATCAGCCTGAC TCTTGCAAAGCTGCCCCTGAGCACCGGTCAGGCATCACCGCTTTCATGAA GGTCCTGAACAGTTTACAGAAGAAGCAAATGAACACCAGCTTGTGTGAGC GGATCCGGAAGGTTTATGGAGACCTGGAGTGTGAATACTGTGGCAAACTT TTTTGGTACCAAGTGCATTTTGATATGCATGTCCGCACCCACACCCGGGA ACATCTGTATTATTGCTCTCAGTGTCATTATTCTTCCATCACCAAAAACT GCCTTAAACGCCACGTAATTCAGAAACACAGTAACATCTTGCTGAAGTGT CCCACCGATGGCTGTGACTACTCAACTCCAGATAAATATAAGCTACAGGC ACATCTTAAAGTTCACACAGCACTGGACAAAAGGAGTTATTCTTGTCCTG TTTGTGAAAAGTCTTTTTCAGAGGATCGATTGATAAAGTCACATATCAAG ACCAACCATCCTGAGGTCTCCATGAGCACCATTTCTGAGGTTCTCGGGAG GAGGGTTCAGCTGAAAGGGCTAATTGGAAAGAGAGCCATGAAATGCCCAT ATTGTGACTTTTATTTCATGAAGAATGGCTCAGACCTTCAGCGTCATATT TGGGCTCATGAAGGTGTGAAGCCCTTCAAGTGTTCTTTGTGTGAGTATGC AACTCGTAGCAAGAGTAACCTCAAGGCTCATATGAATCGTCACAGCACTG AGAAAACCCACCTATGTGACATGTGTGGCAAGAAATTCAAATCAAAAGGG ACACTGAAAAGTCACAAACTCCTTCACACTGCAGATGGGAAGCAGTTTAA GTGCACGGTGTGTGACTACACAGCGGCCCAGAAGCCACAGCTGCTGCGGC ACATGGAACAGCATGTCTCCTTCAAGCCTTTCCGCTGTGCCCATTGCCAT TACTCCTGCAACATATCTGGCTCTCTGAAGCGGCACTACAACAGGAAGCA CCCTAATGAGGAGTATGCCAACGTGGGCACCGGGGAGCTGGCAGCGGAGG TGCTCATCCAGCAAGGTGGTTTGAAGTGTCCTGTTTGCAGCTTTGTATAT GGCACCAAATGGGAGTTCAATAGGCACTTGAAGAACAAACATGGCTTGAA GGTGGTGGAAATTGATGGAGACCCCAAGTGGGAGGTCACCGAGGAGGAGC CCAGCTCCAACCACACGGTCATGATCCAGGAGACGGTCCAGCAAGCGTCC GTGGAGCTTGCCGAGCAGCACCACCTGGTGGTGTCCTCCGACGACGTGGA GGGCATTGAGACGGTGACTGTCTACACGCAGGGCGGGGAGGCCTCGGAGT TCATCGTCTACGTGCAGGAGGCCATGCAGCCTGTGGAGGAGCAGGCTGTG GAGCAGCCGGCCCAGGAACTCTAGAGGACATGTGGCATCGGATGGCCACA GGGCGGGGCTGCCAGGCTCTGCAGGCACCCAGGGTGGGGAGGCCACCCTT CCTGCCCTACCCGCAGAATGGTGCTCTCCTTTGCCCTCCCTGCCCAGCAG CCTGATAGGACTCTCCTAGTCCAACTTGGGGTGGGCAAGGCAGTCAGCAT CACCAGCAACACCACAGGACCCTCACCCCAGCATAGACACACACCCCCTG ACCCTTACCATCTGCTTCCTGAAAGACTTCAGTGTCAGCTCCCCTACACA CACCCCACACCTTCACCCCTTGCTTCAAGATTCAAACAGAGACTCCCAGT CCCCCTCAGCATCTTCCCTGAATCACAGCCCCAGCTCCTTGACCCCCATC TAGGTGCCAAATGTTCATCTGCAACCGCTATGCAGTCTGGTGAGAGGGAG ACAGCCATCACATAGAAAGTGACCGTACGGGTTTTTAATCACTGCTGGGT GGGGTGGGGGTAGGGGGATTGTCCTGGCTTTGTCGACAAAGTCCCACTTC CCCGAGTATTAAGGGCCCTTGGTATCAAGTGAGGTAAATTCACCCATCAC AGGGTCTCGCCCTACCATCCTGGAATTATTTCACTTTTAAGATAAATGCA CTATTTCACTGTTCGCCTCCCATTCTAAGGAGGTGAGGTGGTTGGAATAA AAACAGTTCCTGTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA

Gene structure information

H-Inv cluster ID		HIX0007808
Genomic location	Chromosome	8
	Location	8q24.22
	Position	135490032- 135708792
	Strand	-
Possible duplicated location(s)		NA
Gene structure		14 exon(s)
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:57623;
	KEGG GENES	KEGG GENES(57623);
	GeneCard	ZFAT;  *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 HIP000008138 Predicted CDS 2..3574;  1190[aa];  Orientation:+2;  Codon Adaptation Index (CAI). 0.799

ESEKKGCRWRGGGLTSACSVGSGGGAQHPSYSALGGGLRENTAIFMCKCC NLFSPNQSELLSHVSEKHMEEGVNVDEIIIPLRPLSTPEPPNSSKTRDEF LVMKRKRGRPKGSTKKSSTEEELAENIVSPTEDSPLAPEEGNSLPPSSLE CSKCCRKFSNTRQLRKHICIIVLNLGEEEGEAGNESDLELEKKCKEDDRE KASKRPRSQKTEKVQKISGKEARQLSGAKKPIISVVLTAHEAIPGATKIV PVEAGPPETGATNSETTSADLVPRRGYQEYAIQQTPYEQPMKSSRLGPTQ LKIFTCEYCNKVFKFKHSLQAHLRIHTNEKPYKCPQCSYASAIKANLNVH LRKHTGEKFACDYCSFTCLSKGHLKVHIERVHKKIKQHCRFCKKKYSDVK NLIKHIRDAHDPQDKKVKEALDELCLMTREGKRQLLYDCHICERKFKNEL DRDRHMLVHGDKWPFACELCGHGATKYQALELHVRKHPFVYVCAVCRKKF VSSIRLRTHIKEVHGAAQEALVFTSSINQSFCLLEPGGDIQQEALGDQLQ LVEEEFALQGVNALKEEACPGDTQLEEGRKEPEAPGEMPAPAVHLASPQA ESTALPPCELETTVVSSSDLHSQEVVSDDFLLKNDTSSAEAHAAPEKPPD MQHRSSVQTQGEVITLLLSKAQSAGSDQESHGAQSPLGEGQNMAVLSAGD PDPSRCLRSNPAEASDLLPPVAGGGDTITHQPDSCKAAPEHRSGITAFMK VLNSLQKKQMNTSLCERIRKVYGDLECEYCGKLFWYQVHFDMHVRTHTRE HLYYCSQCHYSSITKNCLKRHVIQKHSNILLKCPTDGCDYSTPDKYKLQA HLKVHTALDKRSYSCPVCEKSFSEDRLIKSHIKTNHPEVSMSTISEVLGR RVQLKGLIGKRAMKCPYCDFYFMKNGSDLQRHIWAHEGVKPFKCSLCEYA TRSKSNLKAHMNRHSTEKTHLCDMCGKKFKSKGTLKSHKLLHTADGKQFK CTVCDYTAAQKPQLLRHMEQHVSFKPFRCAHCHYSCNISGSLKRHYNRKH PNEEYANVGTGELAAEVLIQQGGLKCPVCSFVYGTKWEFNRHLKNKHGLK VVEIDGDPKWEVTEEEPSSNHTVMIQETVQQASVELAEQHHLVVSSDDVE GIETVTVYTQGGEASEFIVYVQEAMQPVEEQAVEQPAQEL*

Motif information

	a.a. length	InterPro	Name
	24	IPR015880	Zinc finger, C2H2-like [Domain]
	21	IPR015880	Zinc finger, C2H2-like [Domain]
	31	IPR007087	Zinc finger, C2H2 [Domain]
	31	IPR013087	Zinc finger C2H2-type/integrase DNA-binding domain [Domain]
	23	IPR015880	Zinc finger, C2H2-like [Domain]
	28	IPR007087	Zinc finger, C2H2 [Domain]
	21	IPR007087	Zinc finger, C2H2 [Domain]
	23	IPR015880	Zinc finger, C2H2-like [Domain]
	28	IPR007087	Zinc finger, C2H2 [Domain]
	26	IPR013087	Zinc finger C2H2-type/integrase DNA-binding domain [Domain]
	24	IPR015880	Zinc finger, C2H2-like [Domain]
	22	IPR007087	Zinc finger, C2H2 [Domain]
	24	IPR015880	Zinc finger, C2H2-like [Domain]
	29	IPR007087	Zinc finger, C2H2 [Domain]
	22	IPR007087	Zinc finger, C2H2 [Domain]
	23	IPR015880	Zinc finger, C2H2-like [Domain]
	28	IPR007087	Zinc finger, C2H2 [Domain]
	21	IPR007087	Zinc finger, C2H2 [Domain]
	23	IPR015880	Zinc finger, C2H2-like [Domain]
	23	IPR007087	Zinc finger, C2H2 [Domain]
	24	IPR015880	Zinc finger, C2H2-like [Domain]
	29	IPR007087	Zinc finger, C2H2 [Domain]
	24	IPR007087	Zinc finger, C2H2 [Domain]
	22	IPR007087	Zinc finger, C2H2 [Domain]
	23	IPR015880	Zinc finger, C2H2-like [Domain]
	28	IPR007087	Zinc finger, C2H2 [Domain]
	33	IPR013087	Zinc finger C2H2-type/integrase DNA-binding domain [Domain]
	21	IPR007087	Zinc finger, C2H2 [Domain]
	24	IPR015880	Zinc finger, C2H2-like [Domain]
	25	IPR015880	Zinc finger, C2H2-like [Domain]
	40	IPR013087	Zinc finger C2H2-type/integrase DNA-binding domain [Domain]
	24	IPR015880	Zinc finger, C2H2-like [Domain]
	24	IPR007087	Zinc finger, C2H2 [Domain]
	22	IPR007087	Zinc finger, C2H2 [Domain]
	24	IPR015880	Zinc finger, C2H2-like [Domain]
	29	IPR013087	Zinc finger C2H2-type/integrase DNA-binding domain [Domain]
	23	IPR015880	Zinc finger, C2H2-like [Domain]
	28	IPR007087	Zinc finger, C2H2 [Domain]
	19	IPR013087	Zinc finger C2H2-type/integrase DNA-binding domain [Domain]
	33	IPR013087	Zinc finger C2H2-type/integrase DNA-binding domain [Domain]
	23	IPR015880	Zinc finger, C2H2-like [Domain]
	28	IPR007087	Zinc finger, C2H2 [Domain]
	21	IPR007087	Zinc finger, C2H2 [Domain]
	36	IPR013087	Zinc finger C2H2-type/integrase DNA-binding domain [Domain]
	23	IPR015880	Zinc finger, C2H2-like [Domain]
	28	IPR007087	Zinc finger, C2H2 [Domain]
	24	IPR015880	Zinc finger, C2H2-like [Domain]
	29	IPR007087	Zinc finger, C2H2 [Domain]
	22	IPR007087	Zinc finger, C2H2 [Domain]
	24	IPR015880	Zinc finger, C2H2-like [Domain]
	22	IPR007087	Zinc finger, C2H2 [Domain]

Gene function information

H-Inv ID		HIT000087982
H-Inv cluster ID		HIX0007808
Accession number		BC012989.2
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;  Splicing isoform
Coding potential		Protein coding;
Definition		Similar to Zinc finger protein ZFAT; Zinc finger gene in AITD susceptibility region; Zinc finger protein 406;
Similarity category		Category: Similar to known protein(Category II).
		Similar to known protein (Q9P243)  [Identity/coverage = 99.913%/99.52%] to Homo sapiens (Human). protein.
Experimental evidence		Protein evidence
PubMed ID		10819331;  15294872;  15489334;  16421571;  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	ZFAT
	HGNC aliases	"zinc finger protein 406"
	HGNC name	zinc finger and AT hook domain containing
	DDBJ	ZFAT
	UniProt	ZFAT
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	HIP000008138
	No. of interaction	NA
	Interaction partner(s)	NA
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	NA
	IntAct	NA
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:57623;
	KEGG GENES	KEGG GENES(57623);
	GeneCard	ZFAT;  *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	metal ion binding (GO:0046872);  nucleic acid binding (GO:0003676);

Subcellular localization information

Last modified:27-May-2015

WoLF PSORT	nuclear;  cytosol;
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 259 425 1fs7A 1e-13 7.6 147/471 a.138.1.3 409 464 1vd4A 1e-04 13.8 53/62 g.41.3.1 732 830 2g43A1 4e-09 6.7 95/117 g.44.1.5 815 976 1k2fA 5e-17 8.0 162/190 b.8.1.2 932 1104 2gb3A1 6e-04 14.2 169/100 c.67.1.1 950 987 2yrkA1 1e-05 18.4 38/48 g.37.1.4

Related H-InvDB links GTOP

Gene expression information

Last modified:27-May-2015

Tissue-specific expression			NA
Probe information	AceGene		NA
	Affymetrix GeneChip	HG-Focus	NA
		HG-U133	226564_at;
		HG-U133A	NA
		HG-U133A_2	NA
		HG-U133B	226564_at;
		HG-U133_Plus_2	226564_at;
		HG-U95	58283_at;
		HG-U95A	NA
		HG-U95B	58283_at;
		HG-U95C	NA
		HG-U95D	NA
		HG-U95E	NA
		HG-U95Av2	NA
		HuEx-1_0	3117098;  3154701;  3154702;  3154703;  3154704;  3154721;  3154735;  3154746;  3154752;  3154755;  3154756;  3154759;  3154766;  3154768;  3154769;  3154773;  3154776;  3154784;  3154787;  3154795;
		HuGeneFL	NA
	Agilent	Human 1A Oligo Microarray:PGID215	NA
		Whole Human Genome Oligo Microarray:PGID247	A_32_P109922;
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 2 .. 2 G/C rs114710253 - CDS Nonsynonymous[Glu1Gln] 176 .. 176 G/A rs201873553 - CDS Nonsynonymous[Glu59Lys] 191 .. 191 G/A rs193274691 - CDS Nonsynonymous[Val64Ile] 199 .. 199 G/A rs187529527 - CDS Synonymous[Glu66Glu] 211 .. 211 A/C rs200441089 - CDS Nonsynonymous[Glu70Asp] 290 .. 290 A/G rs17778003 - CDS Nonsynonymous[Arg97Gly] 337 .. 337 G/A rs200457313 - CDS Synonymous[Gly112Gly] 343 .. 343 G/A rs202113873 - CDS Synonymous[Thr114Thr] 385 .. 385 G/A rs200246512 - CDS Synonymous[Val128Val] 400 .. 400 C/T rs199849844 - CDS Synonymous[Asp133Asp] 404 .. 404 C/T rs12541381 - CDS Nonsynonymous[Pro135Ser] 414 .. 414 C/T rs146684203 - CDS Nonsynonymous[Pro138Leu] 483 .. 483 C/T rs143917098 - CDS Nonsynonymous[Thr161Met] 484 .. 484 G/A rs138394119 - CDS Synonymous[Thr161Thr] 514 .. 514 C/T rs200807830 - CDS Synonymous[Ile171Ile] 542 .. 542 G/C rs202134657 - CDS Nonsynonymous[Glu181Gln] 596 .. 596 C/T rs75596750 - CDS Nonsynonymous[Arg199Trp] 615 .. 615 G/C rs201828593 - CDS Nonsynonymous[Arg205Thr] 617 .. 617 C/G rs199920798 - CDS Nonsynonymous[Pro206Ala] 620 .. 620 C/T rs200967006 - CDS Nonsynonymous[Arg207Trp] 677 .. 677 T/C rs201681098 - CDS Nonsynonymous[Ser226Pro] 684 .. 684 C/T rs192292042 - CDS Nonsynonymous[Ala228Val] 822 .. 822 G/C rs199802452 - CDS Nonsynonymous[Arg274Pro] 979 .. 979 C/T rs143741585 - CDS Synonymous[His326His] 1009 .. 1009 G/A rs187092112 - CDS Synonymous[Gln336Gln] 1079 .. 1079 G/C rs79889362 - CDS Nonsynonymous[Ala360Pro] 1085 .. 1085 G/A rs182039992 - CDS Nonsynonymous[Asp362Asn] 1089 .. 1089 A/G rs200174150 - CDS Nonsynonymous[Tyr363Cys] 1090 .. 1090 T/C rs3739422 + CDS Synonymous[Tyr363Tyr] 1154 .. 1154 A/G rs75824083 - CDS Nonsynonymous[Ile385Val] 1169 .. 1169 C/T rs143158019 - CDS Nonsynonymous[Arg390Cys] 1227 .. 1227 C/T rs199724546 - CDS Nonsynonymous[Ala409Val] 1278 .. 1278 T/A rs201752594 - CDS Nonsynonymous[Leu426Gln] 1309 .. 1309 C/G rs202211030 - CDS Synonymous[Leu436Leu] 1315 .. 1315 C/G rs201292104 - CDS Nonsynonymous[Asp438Glu] 1342 ^ 1343 -/T rs34615535 - CDS 1345 .. 1345 C/T rs200140182 - CDS Synonymous[Asn448Asn] 1357 .. 1357 C/T rs3739423 + CDS Synonymous[Arg452Arg] 1363 ^ 1364 -/CCCCCC rs141961813 - CDS 1378 .. 1378 C/T rs201121080 - CDS Synonymous[His459His] 1468 .. 1468 C/T rs199567565 - CDS Synonymous[Phe489Phe] 1474 .. 1474 C/T rs201972924 - CDS Synonymous[Tyr491Tyr] 1477 .. 1477 C/A rs200259422 - CDS Synonymous[Val492Val] 1483 .. 1483 C/T rs115542684 - CDS Synonymous[Ala494Ala] 1491 .. 1491 G/A rs189623686 - CDS Nonsynonymous[Arg497His] 1501 .. 1501 C/T rs199619199 - CDS Synonymous[Phe500Phe] 1509 .. 1509 C/G rs112892337 - CDS Nonsynonymous[Ser503Cys] 1532 .. 1532 A/G rs200147714 - CDS Nonsynonymous[Lys511Glu] 1634 .. 1634 C/T rs34008545 - CDS Synonymous[Leu545Leu] 1645 .. 1645 G/C rs201617045 - CDS Nonsynonymous[Gln548His] 1736 .. 1736 C/T rs142331855 - CDS Nonsynonymous[Arg579Trp] 1745 .. 1745 C/T rs180691057 - CDS Nonsynonymous[Pro582Ser] 1746 .. 1746 C/T rs202155119 - CDS Nonsynonymous[Pro582Leu] 1752 .. 1752 C/A rs199682848 - CDS Nonsynonymous[Ala584Asp] 1832 .. 1832 G/A rs200262210 - CDS Nonsynonymous[Glu611Lys] 1841 .. 1841 G/A rs79599902 - CDS Nonsynonymous[Val614Met] 1916 .. 1916 G/A rs201380546 - CDS Nonsynonymous[Ala639Thr] 2016 .. 2016 A/G rs200703177 - CDS Nonsynonymous[Gln672Arg] 2047 .. 2047 C/T rs145169577 - CDS Synonymous[Gly682Gly] 2115 .. 2115 G/A rs35003767 - CDS Nonsynonymous[Arg705Lys] 2118 .. 2118 G/A rs202196720 - CDS Nonsynonymous[Cys706Tyr] 2135 .. 2135 G/A rs188333537 - CDS Nonsynonymous[Ala712Thr] 2225 .. 2225 C/G rs200943503 - CDS Nonsynonymous[Arg742Gly] 2226 .. 2226 G/A rs201041569 - CDS Nonsynonymous[Arg742Gln] 2388 .. 2388 C/A rs78880232 - CDS Nonsynonymous[Thr796Asn] 2464 .. 2464 C/T rs200425686 - CDS Synonymous[His821His] 2506 .. 2506 C/T rs144002982 - CDS Synonymous[Thr835Thr] 2509 .. 2509 T/C rs894344 - CDS Synonymous[Asp836Asp] 2510 .. 2510 G/A rs201031325 - CDS Nonsynonymous[Gly837Ser] 2583 .. 2583 G/A rs138033806 - CDS Nonsynonymous[Arg861Lys] 2584 .. 2584 G/A rs3739424 + CDS Synonymous[Arg861Arg] 2593 .. 2593 T/C rs3739425 + CDS Synonymous[Ser864Ser] 2632 .. 2632 G/A rs10505626 - CDS Synonymous[Leu877Leu] 2644 .. 2644 T/C rs202167634 - CDS Synonymous[His881His] 2862 .. 2862 A/G rs193040099 - CDS Nonsynonymous[Lys954Arg] 2905 .. 2905 A/G rs144631711 - CDS Synonymous[Lys968Lys] 2912 ^ 2913 -/C rs35426796 - CDS 2919 .. 2919 A/G rs199996485 - CDS Nonsynonymous[Asp973Gly] 3024 .. 3024 C/T rs200726532 - CDS Nonsynonymous[Ala1008Val] 3196 .. 3196 G/A rs199671548 - CDS Synonymous[Ala1065Ala] 3247 .. 3247 A/G rs114589731 - CDS Synonymous[Val1082Val] 3341 .. 3341 G/A rs187568306 - CDS Nonsynonymous[Glu1114Lys] 3346 .. 3346 G/A rs200051218 - CDS Synonymous[Glu1115Glu] 3366 .. 3366 C/G rs181970358 - CDS Nonsynonymous[Thr1122Arg] 3397 .. 3397 G/A rs188324571 - CDS Synonymous[Ala1132Ala] 3425 .. 3425 C/T rs140801453 - CDS Synonymous[Leu1142Leu] 3463 .. 3463 G/A rs61748832 - CDS Synonymous[Thr1154Thr] 3485 .. 3485 G/A rs200658838 - CDS Nonsynonymous[Gly1162Arg] 3525 .. 3525 T/C rs201818197 - CDS Nonsynonymous[Met1175Thr] 3559 .. 3559 G/A rs143856467 - CDS Synonymous[Pro1186Pro] 3567 .. 3567 A/G rs199857189 - CDS Nonsynonymous[Glu1189Gly] 3619 .. 3619 C/T rs148077944 - 3'UTR 3688 .. 3688 C/T rs143609415 - 3'UTR 3760 .. 3760 C/T rs11538239 - 3'UTR 3782 .. 3782 C/G rs185127495 - 3'UTR 3871 .. 3871 T/C rs149312401 - 3'UTR 3907 .. 3907 C/G rs138616859 - 3'UTR 3958 .. 3958 C/T rs116877116 - 3'UTR 4117 .. 4117 C/T rs144769555 - 3'UTR 4143 .. 4143 C/T rs180881285 - 3'UTR 4166 .. 4166 C/T rs188846777 - 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;