H-InvDB_8.3 released on March 26, 2013. Search by Keyword H-Inv ID (HIT) H-Inv cluster ID (HIX) H-Inv protein ID (HIP) H-Inv gene family/group (HIF) Accession number Chromosome number Chromosome band Definition* Data source ID --- CCDS ID dbSNP ID (rs number) EC number Ensembl ID EntrezGene ID FR ID FR Accession number GO ID GO name* HGNC gene symbol HGNC gene name* InterPro ID InterPro name* OMIM ID OMIM title* Pathway ID Pathway name* RefSeq (gene) ID RefSeq (protein) ID SCOP ID UniProt for Advanced Search

Home Quick guide Navi BLAST Site map Download Contact us Help

Locus view Protein view G-integra DiseaseInfo Viewer H-ANGEL Evola PPI view Gene Family/Group Hyperlink MS

H-Invitational ID: HIT000388793 Accession number: BC126201 Created date: 26-Mar-2013 Last modified: 20-Apr-2012 Definition: Receptor-type tyrosine-protein phosphatase O isoform a precursor.

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

Transcript original information Accession number BC126201.1 CAGE tag ID NA EST ID NA Clone Number MGC:161479 IMAGE:8991917 Experimental resources   NBRC ; HGPD ; Antibody (PTPRO) ; Catalog (PTPRO); Sequence data provider NA Annotation project NA Length of cDNA 5147[bp] (No. of exon:27)[A:1440 T:1451 G:1141 C:1115] Devision HUM Molecular type mRNA Library origin Cell type NA Tissue type Brain, cerebellum, PCR rescued clones 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) CAGGAG;  Transcript quality feature NA Notes NA

GCAGAGGAGGAAAGGGAGCAGGCGCAGGGGGACTGGAAAGGCAGCATGCG CTCGCCAGGAGCAACCTCGGCGCCCAGGGTCTGAGGCTGCAGCCCCAGTT CGCCATTGTGAGCCGCCGCCGGGGGAGTCCGCTAGCGCAGCCGTGCCCCC GAGTCCCCGTCCGCGCAGCGATGGGGCACCTGCCCACGGGGATACACGGC GCCCGCCGCCTCCTGCCTCTGCTCTGGCTCTTTGTGCTGTTCAAGAATGC TACAGCTTTCCATGTAACTGTCCAAGATGATAATAACATCGTTGTCTCAT TAGAAGCTTCAGACGTCATCAGTCCAGCATCTGTGTATGTTGTGAAGATA ACTGGTGAATCCAAAAATTATTTCTTCGAATTTGAGGAATTCAACAGCAC TTTGCCTCCTCCTGTTATTTTCAAGGCCAGTTATCATGGCCTTTATTATA TAATCACTCTGGTAGTGGTAAATGGAAATGTGGTGACCAAGCCATCCAGA TCAATCACTGTGTTAACAAAACCTCTACCTGTAACCAGTGTTTCCATATA TGACTATAAACCTTCTCCTGAAACAGGAGTCCTGTTTGAAATACATTATC CAGAAAAATATAACGTTTTCACAAGAGTGAACATTAGCTACTGGGAAGGT AAAGACTTCCGGACAATGCTATATAAAGATTTCTTTAAGGGAAAAACAGT ATTTAATCACTGGCTGCCAGGAATGTGTTATAGTAATATCACCTTTCAGC TGGTATCTGAGGCAACTTTTAATAAAAGTACCCTTGTTGAGTACAGTGGT GTCAGTCACGAACCCAAACAGCACAGAACTGCCCCTTATCCACCTCAAAA TATTTCCGTTCGTATCGTAAACTTGAACAAAAACAACTGGGAAGAACAGA GTGGCAATTTCCCAGAAGAATCCTTCATGAGATCACAAGATACAATAGGA AAAGAAAAACTCTTCCATTTTACAGAAGAAACCCCTGAAATTCCCTCGGG CAACATTTCTTCCGGTTGGCCTGATTTTAATAGCAGTGACTATGAAACTA CGTCTCAGCCATATTGGTGGGACAGTGCATCTGCAGCTCCTGAAAGTGAA GATGAATTTGTCAGCGTACTTCCCATGGAATACGAAAATAACAGTACACT CAGTGAGACAGAGAAGTCAACATCAGGCTCTTTCTCCTTTTTCCCTGTGC AAATGATATTGACCTGGTTACCACCCAAACCACCCACTGCTTTTGATGGG TTCCATATCCATATTGAACGAGAAGAGAACTTTACTGAATATTTGATGGT GGATGAAGAAGCACATGAATTTGTTGCAGAACTGAAGGAACCTGGGAAAT ATAAGTTATCTGTGACAACCTTTAGTTCCTCAGGATCTTGTGAAACTCGA AAAAGTCAGTCAGCAAAATCACTCAGCTTTTATATCAGTCCTTCAGGAGA GTGGATTGAAGAACTGACCGAGAAGCCGCAGCACGTGAGTGTCCACGTTT TAAGCTCAACCACTGCCTTGATGTCCTGGACATCTTCCCAAGAGAACTAC AACAGCACCATTGTGTCTGTGGTGTCGCTGACCTGCCAGAAACAAAAGGA GAGCCAGAGGCTTGAAAAGCAGTACTGCACTCAGGTGAACTCAAGCAAAC CTATTATTGAAAATCTGGTTCCTGGTGCCCAGTACCAGGTTGTAATATAC CTAAGGAAAGGCCCTTTGATTGGACCACCTTCAGATCCTGTGACATTTGC TATTGTTCCCACAGGAATAAAGGATTTAATGCTCTATCCTTTGGGTCCTA CGGCCGTGGTTCTGAGCTGGACCAGACCTTATTTAGGCGTGTTCAGAAAA TACGTGGTTGAAATGTTTTATTTCAACCCTGCTACAATGACATCAGAGTG GACCACCTACTATGAAATAGCAGCAACTGTTTCCTTAACTGCATCCGTGA GAATAGCTAATCTGCTGCCAGCATGGTACTACAACTTCCGGGTTACCATG GTGACGTGGGGAGATCCAGAATTGAGCTGCTGTGACAGCTCTACCATCAG CTTCATAACAGCCCCAGTGGCTCCGGAAATCACTTCTGTGGAATATTTCA ACAGTCTGTTATATATCAGTTGGACATATGGGGATGATACAACGGACTTG TCCCATTCTAGAATGCTTCACTGGATGGTGGTTGCAGAAGGAAAAAAGAA AATTAAAAAGAGTGTAACACGCAATGTCATGACTGCAATTCTCAGCTTGC CTCCAGGCGACATCTATAACCTCTCAGTAACTGCTTGTACTGAAAGAGGA AGTAATACCTCCATGCTCCGCCTTGTCAAGCTAGAACCAGCTCCACCCAA ATCACTCTTCGCAGTGAACAAAACCCAGACTTCAGTGACTTTGCTGTGGG TGGAAGAGGGAGTAGCTGATTTCTTTGAAGTTTTCTGTCAACAAGTTGGC TCCAGTCAGAAAACCAAACTTCAGGAACCAGTTGCTGTTTCTTCCCATGT CGTGACCATCTCCAGCCTTCTTCCTGCCACTGCCTACAATTGTAGTGTCA CCAGCTTTAGCCATGACAGCCCCAGTGTCCCTACGTTCATAGCCGTCTCA ACAATGGTTACAGAGATGAATCCCAATGTGGTAGTGATCTCCGTGCTGGC CATCCTTAGCACACTTTTAATTGGACTGTTGCTTGTTACCCTCATTATTC TTAGGAAAAAGCATCTGCAGATGGCTAGGGAGTGTGGAGCTGGTACATTT GTCAATTTTGCATCCTTAGAGAGGGATGGAAAGCTTCCATACAACTGGCG TAGGAGTATATTTGCTTTCTTAACCCTGCTACCCTCATGTCTTTGGACTG ATTATCTTTTGGCATTTTATATTAATCCTTGGAGTAAAAATGGTTTAAAG AAGAGGAAACTGACAAACCCGGTTCAACTGGATGACTTTGATGCCTATAT TAAGGATATGGCCAAAGACTCTGACTATAAATTTTCTCTTCAGTTTGAGG AGTTGAAATTGATTGGACTGGATATCCCACACTTTGCTGCAGATCTTCCA CTGAATCGATGTAAAAACCGTTACACAAACATCCTACCATATGACTTCAG CCGTGTGAGATTAGTCTCCATGAATGAAGAGGAAGGTGCAGACTACATCA ATGCCAACTATATTCCTGGATACAACTCACCCCAGGAGTATATTGCCACC CAGGGGCCACTGCCTGAAACCAGAAATGACTTCTGGAAGATGGTCCTGCA ACAAAAGTCTCAGATTATTGTCATGCTCACTCAGTGTAATGAGAAAAGGA GGGTGAAATGTGACCATTACTGGCCATTCACGGAAGAACCTATAGCCTAT GGAGACATCACTGTGGAGATGATTTCAGAGGAAGAGCAGGACGACTGGGC CTGTAGACACTTCCGGATCAACTATGCTGACGAGATGCAGGATGTGATGC ATTTTAACTACACTGCATGGCCTGATCATGGTGTGCCCACAGCAAATGCT GCAGAAAGTATCCTGCAGTTTGTACACATGGTCCGACAGCAAGCTACCAA GAGCAAAGGTCCCATGATCATTCACTGCAGTGCTGGCGTGGGACGGACAG GAACATTCATTGCCCTGGACAGGCTCTTGCAGCACATTCGGGATCATGAG TTTGTTGACATCTTAGGGCTGGTGTCAGAAATGAGGTCATACCGGATGTC TATGGTACAGACAGAGGAGCAGTACATTTTTATCCATCAGTGTGTGCAAC TGATGTGGATGAAGAAGAAGCAGCAGTTCTGCATCAGTGATGTCATATAC GAGAATGTTAGCAAGTCCTAGTTCAGAATCCGGAGCAGAGAGGACATGAT GTGCGCCCATCCTCCCTTGCTTCCAGATTGTTTTAGTGGGCCCTGATGGT CATTTTTCTAAACAGAGGCCCTGCTTTGTAATATGTGGCCAAGGAGATAA TTTATCTCACAGAAGCACCGGGAAGACTTAGCCTTAAAGAGCCTACAGTG TCCTTTTGGACTCTTTCACTTCGGGACATTTAATAATGGACCAAATTCAA CAGAACACCAGGAAGGTCAAGACGCTCTCCAAAGGGCAGGAAGTACAGCA CTTCCGAAGAGTTTAGTTGGCCCTTTGCTGGTTGGGCTGAGTTTTTTATT TTTAAGTGTTTGTTTTTCAGTGCAATAATTTTTGTGTGTGTGTGATTCTT ATCAGAAAGTTGAATTGTTTTCTGCCTACACCGTTCATCAGCCCCATAAC CCAGGAAGGAACAGGCATTGTTAGCATCAGATTATACCTCATTATTAAAA GGAGGCATGGCCACACATGAAGAAATGGTCATTCTACTTCAAAGAAATTG AGCCAGCACTATCTGTACTCCAACATTACCGGATCTGGATTGGGGAGGTT GGTCAGGGAAGAGAGGGGTTCTACCCACAGATCAACTGTGTAATCTTTTA CTATTCAAGCTATAATTCAGCTTCAAAGTAGAGTAGAAAAAAAATTGTCT TAACTGTTCTAGTTCTTGATGGTTTTCTTCCTTATTAACAGTTGGTGTTT CTTCCTTGGCCCTTTTGGACTAATGTTACTGTCCAAGTTCTTTCTCAAGA AACCACATCTGGTTCAGAAGAGTGTCAAGTTGGACTCTTTGAACTCTGTT GCTGTCTGAGCAATCGTGGTGCCTAGACTTTGCATTCCTTGTTCTGTTGA CCTGCATACATGTGAGAGCTATTTCTTTAAGAACTATATAGGCTGTGAAA ACGCACTTTCTTTCCCCCAAAGAGCTGGGAATTTATGAAGTTATGGCAAT GAACTGCAGCATGCTGGGACAATTATTTGACTACTTTTTTTTGTAATATT GTCAAATGTCTCTATGGATTCTGACAGAGATTTCTTTTTGTTTTGTTATT CTTTTGGTTGTCAGTTTCATTTTAACGAGTGTAACTAGTAACATTTTATT CTTTGGATTTTGTATAATTACAGTACATGATTGTGTATTGTGACATGAAT GCTGTCAAAATGACATTGATGGCATTGTGAAGCCTGTTACTTTGTGTCAC TTCCTGATAAATAAGAGGTGATGACATGGATATACAACAGAAAACACTTT GAGTTGAAAGTAAACACAAGCTGGCTGCTTCCCTGTGGCAACTGTGG

Gene structure information

H-Inv cluster ID		HIX0026345
Genomic location	Chromosome	12
	Location	12p12.3
	Position	15475491- 15750333
	Strand	+
Possible duplicated location(s)		NA
Gene structure		27 exon(s)
Database links	RefSeq	NM_002848;  NM_030667;  NM_030668;  NM_030669;  NM_030670;  NM_030671;
	Ensembl	ENST00000281171;  ENST00000348962;  ENST00000442921;  ENST00000445537;  ENST00000535311;  ENST00000535322;  ENST00000538907;  ENST00000542557;  ENST00000543886;  ENST00000544244;  ENST00000544706;  ENST00000545023;
	Entrez Gene	Entrez Gene ID:5800;
	KEGG GENES	KEGG GENES(5800);
	GeneCard	PTPRO;  *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 HIP000056850 Predicted CDS 171..3821;  1216[aa];  Orientation:+3;  Codon Adaptation Index (CAI). 0.747 Database links RefSeq NP_109592;  UniProt Q16827;  CCDS CCDS8675;

MGHLPTGIHGARRLLPLLWLFVLFKNATAFHVTVQDDNNIVVSLEASDVI SPASVYVVKITGESKNYFFEFEEFNSTLPPPVIFKASYHGLYYIITLVVV NGNVVTKPSRSITVLTKPLPVTSVSIYDYKPSPETGVLFEIHYPEKYNVF TRVNISYWEGKDFRTMLYKDFFKGKTVFNHWLPGMCYSNITFQLVSEATF NKSTLVEYSGVSHEPKQHRTAPYPPQNISVRIVNLNKNNWEEQSGNFPEE SFMRSQDTIGKEKLFHFTEETPEIPSGNISSGWPDFNSSDYETTSQPYWW DSASAAPESEDEFVSVLPMEYENNSTLSETEKSTSGSFSFFPVQMILTWL PPKPPTAFDGFHIHIEREENFTEYLMVDEEAHEFVAELKEPGKYKLSVTT FSSSGSCETRKSQSAKSLSFYISPSGEWIEELTEKPQHVSVHVLSSTTAL MSWTSSQENYNSTIVSVVSLTCQKQKESQRLEKQYCTQVNSSKPIIENLV PGAQYQVVIYLRKGPLIGPPSDPVTFAIVPTGIKDLMLYPLGPTAVVLSW TRPYLGVFRKYVVEMFYFNPATMTSEWTTYYEIAATVSLTASVRIANLLP AWYYNFRVTMVTWGDPELSCCDSSTISFITAPVAPEITSVEYFNSLLYIS WTYGDDTTDLSHSRMLHWMVVAEGKKKIKKSVTRNVMTAILSLPPGDIYN LSVTACTERGSNTSMLRLVKLEPAPPKSLFAVNKTQTSVTLLWVEEGVAD FFEVFCQQVGSSQKTKLQEPVAVSSHVVTISSLLPATAYNCSVTSFSHDS PSVPTFIAVSTMVTEMNPNVVVISVLAILSTLLIGLLLVTLIILRKKHLQ MARECGAGTFVNFASLERDGKLPYNWRRSIFAFLTLLPSCLWTDYLLAFY INPWSKNGLKKRKLTNPVQLDDFDAYIKDMAKDSDYKFSLQFEELKLIGL DIPHFAADLPLNRCKNRYTNILPYDFSRVRLVSMNEEEGADYINANYIPG YNSPQEYIATQGPLPETRNDFWKMVLQQKSQIIVMLTQCNEKRRVKCDHY WPFTEEPIAYGDITVEMISEEEQDDWACRHFRINYADEMQDVMHFNYTAW PDHGVPTANAAESILQFVHMVRQQATKSKGPMIIHCSAGVGRTGTFIALD RLLQHIRDHEFVDILGLVSEMRSYRMSMVQTEEQYIFIHQCVQLMWMKKK QQFCISDVIYENVSKS*

Motif information

	a.a. length	InterPro	Name
	97	IPR008957	Fibronectin type III domain [Domain]
	89	IPR003961	Fibronectin, type III [Domain]
	89	IPR003961	Fibronectin, type III [Domain]
	96	IPR008957	Fibronectin type III domain [Domain]
	96	IPR003961	Fibronectin, type III [Domain]
	94	IPR013783	Immunoglobulin-like fold [Domain]
	86	IPR003961	Fibronectin, type III [Domain]
	87	IPR003961	Fibronectin, type III [Domain]
	107	IPR013783	Immunoglobulin-like fold [Domain]
	102	IPR008957	Fibronectin type III domain [Domain]
	101	IPR003961	Fibronectin, type III [Domain]
	87	IPR003961	Fibronectin, type III [Domain]
	82	IPR008957	Fibronectin type III domain [Domain]
	90	IPR003961	Fibronectin, type III [Domain]
	81	IPR003961	Fibronectin, type III [Domain]
	89	IPR013783	Immunoglobulin-like fold [Domain]
	90	IPR008957	Fibronectin type III domain [Domain]
	89	IPR003961	Fibronectin, type III [Domain]
	80	IPR003961	Fibronectin, type III [Domain]
	76	IPR003961	Fibronectin, type III [Domain]
	261	IPR000242	Protein-tyrosine phosphatase, receptor/non-receptor type [Domain]
	258	IPR000242	Protein-tyrosine phosphatase, receptor/non-receptor type [Domain]
	231	IPR000242	Protein-tyrosine phosphatase, receptor/non-receptor type [Domain]
	8	IPR000242	Protein-tyrosine phosphatase, receptor/non-receptor type [Domain]
	21	IPR000242	Protein-tyrosine phosphatase, receptor/non-receptor type [Domain]
	18	IPR000242	Protein-tyrosine phosphatase, receptor/non-receptor type [Domain]
	104	IPR003595	Protein-tyrosine phosphatase, catalytic [Domain]
	75	IPR000387	Dual-specific/protein-tyrosine phosphatase, conserved region [Domain]
	19	IPR000242	Protein-tyrosine phosphatase, receptor/non-receptor type [Domain]
	11	IPR016130	Protein-tyrosine phosphatase, active site [Active_site]
	16	IPR000242	Protein-tyrosine phosphatase, receptor/non-receptor type [Domain]
	11	IPR000242	Protein-tyrosine phosphatase, receptor/non-receptor type [Domain]

Gene function information

H-Inv ID		HIT000388793
H-Inv cluster ID		HIX0026345
Accession number		BC126201.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		Representative transcript;  Splicing isoform
Coding potential		Protein coding;
Definition		Receptor-type tyrosine-protein phosphatase O isoform a precursor.
Similarity category		Category: Identical to known human protein(Category I).
		Identical to known human protein (NP_109592)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens protein.
Experimental evidence		Protein evidence
PubMed ID		NA
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	PTPRO
	HGNC aliases	NA
	HGNC name	protein tyrosine phosphatase, receptor type, O
	DDBJ	PTPRO
	UniProt	NA
EC number		EC 3.1.3.48protein-tyrosine-phosphatase;
GGDB (GlycoGene Database)	Gene symbol	NA
	Familly	NA
	Designation	NA
	Expression	NA
KEGG metabolic pathway		04514 :Cell adhesion molecules (CAMs);  04520 :Adherens junction;  04630 :Jak-STAT signaling pathway;  04660 :T cell receptor signaling pathway;  04662 :B cell receptor signaling pathway;  04670 :Leukocyte transendothelial migration;  04910 :Insulin signaling pathway;  04920 :Adipocytokine signaling pathway;  04940 :Type I diabetes mellitus;  05120 :Epithelial cell signaling in Helicobacter pylori infection;
Protein-protein interaction (PPI)	H-Inv protein ID	HIP000056850
	No. of interaction	2
	Interaction partner(s)	HIP000031963;  HIP000086920;
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	15467;
	IntAct	EBI-3938084;  EBI-1389788;
Database links	RefSeq	NM_002848;  NM_030667;  NM_030668;  NM_030669;  NM_030670;  NM_030671;
	Ensembl	ENST00000281171;  ENST00000348962;  ENST00000442921;  ENST00000445537;  ENST00000535311;  ENST00000535322;  ENST00000538907;  ENST00000542557;  ENST00000543886;  ENST00000544244;  ENST00000544706;  ENST00000545023;
	Entrez Gene	Entrez Gene ID:5800;
	KEGG GENES	KEGG GENES(5800);
	GeneCard	PTPRO;  *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.

NA

Gene ontology information

Molecular function	phosphoric monoester hydrolase activity (GO:0016791);  protein tyrosine phosphatase activity (GO:0004725);
Biological process	dephosphorylation (GO:0016311);  protein amino acid dephosphorylation (GO:0006470);

Subcellular localization information

Last modified:20-Apr-2012

WoLF PSORT	plasma membrane;  extracellular;  peroxisome;  Other;
Target P	signal peptide
SOSUI	membrane protein
TMHMM	membrane 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:20-Apr-2012

Start End PDB_ID E-value Identity Coverage SCOP_ID 436 530 1x5jA1 3e-09 15.8 95/100 b.1.2.1 518 635 1uemA 3e-06 17.8 107/117 b.1.2.1 630 710 1cfbA1 1e-04 14.5 81/100 b.1.2.1 925 1192 1jlnA 5e-64 40.8 260/297 c.45.1.2

Related H-InvDB links GTOP

Disease/pathology information

Last modified:20-Apr-2012

Disease relation		Disease name:NA
Related information in OMIM		OMIM ID:NA Title:NA
Co-localized orphan diseases		OMIM ID:  107920;  108600;  130080;  609113;  612372;
Disease related mutation		NA
Literature-Extracted GENe-Disease Associations (LEGENDA)	Gene name	Entrez Gene ID:(5800)
	Disease	Entrez Gene ID:(5800)
	Substance	Entrez Gene ID:(5800)
Related H-InvDB links		DiseaseInfo Viewer;  LEGENDA;

Evolutionary information

Last modified:20-Apr-2012

Relationship	Species	Accession number	MGI	Links
Orthology	Mus sp. (Mouse)	BC052743	MGI:1097152	G-integra
Orthology	Equus sp. (Horse)	ENSECAT00000017333		G-integra
Orthology	Pongo sp. (Orangutan)	ENSPPYT00000005141		G-integra
Orthology	Tetraodon sp. (Tetraodon)	GSTENT00011570001		G-integra
Orthology	Takifugu sp. (Fugu)	SINFRUT00000167446		G-integra
Orthology	Rattus sp. (Rat)	U28938		G-integra
Orthology	Gallus sp. (Chicken)	U65891		G-integra
Orthology	Monodelphis sp. (Opossum)	XM_001367047		G-integra
Orthology	Canis sp. (Dog)	XM_543791		G-integra
Orthology	Bos sp. (Cow)	XM_614266		G-integra
Orthology	Macaca sp. (Macaque)	XR_011143		G-integra
Orthology	Pan sp. (Chimpanzee)	XR_023379		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 271 .. 271 T/C rs112922378 + CDS Nonsynonymous[Val34Ala] 278 .. 278 T/C rs17762440 + CDS Synonymous[Asp36Asp] 815 .. 815 C/T rs112427744 + CDS Synonymous[Pro215Pro] 852 .. 852 A/G rs117540301 + CDS Nonsynonymous[Ile228Val] 1280 .. 1280 C/G rs61754411 + CDS Nonsynonymous[Asn370Lys] 1497 .. 1497 G/A rs71459181 + CDS Nonsynonymous[Val443Ile] 1614 .. 1614 G/T rs78433620 + CDS AA-STOP[Glu482*] 1742 .. 1742 G/A rs74073225 + CDS Synonymous[Val524Val] 1796 .. 1796 T/C rs1050646 + CDS Synonymous[Gly542Gly] 1853 .. 1853 C/T rs111913342 + CDS Synonymous[Tyr561Tyr] 2225 .. 2225 T/C rs71581909 + CDS Synonymous[Asn685Asn] 2258 .. 2258 C/A rs6488782 + CDS Synonymous[Gly696Gly] 2270 .. 2270 C/T rs80309166 + CDS Synonymous[Asn700Asn] 2426 .. 2426 T/C rs36020879 + CDS Synonymous[Phe752Phe] 2428 .. 2428 A/G rs80173106 + CDS Nonsynonymous[Glu753Gly] 2576 .. 2576 T/C rs61741744 + CDS Synonymous[Ser802Ser] 2892 .. 2892 G/T rs11056560 + CDS Nonsynonymous[Gly908Cys] 3011 .. 3011 G/A rs61754412 + CDS Synonymous[Leu947Leu] 3206 .. 3206 G/A rs3748299 + CDS Synonymous[Gly1012Gly] 3431 .. 3431 C/T rs77872564 + CDS Synonymous[Asp1087Asp] 3581 .. 3581 T/A rs4356288 + CDS Nonsynonymous[Ser1137Arg] 3633 .. 3633 C/G rs61757814 + CDS Nonsynonymous[His1155Asp] 3651 .. 3651 T/A rs3190975 + CDS Nonsynonymous[Phe1161Ile] 3892 .. 3892 C/G rs113024827 + 3'UTR 4192 .. 4192 G/A rs80301530 + 3'UTR 4262 .. 4262 C/G rs73305557 + 3'UTR 4545 .. 4545 G/T rs73305558 + 3'UTR 4673 .. 4673 C/G rs1802754 + 3'UTR 4706 .. 4706 A/G rs7306091 + 3'UTR 4746 .. 4746 T/G rs74476689 + 3'UTR 4748 .. 4748 A/G rs117346438 + 3'UTR 4835 .. 4835 T/C rs73305559 + 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;