H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
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Definition*
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---
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H-Invitational ID:
HIT000000174
Accession number:
AB007926
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Similar to Disrupted in schizophrenia 1 protein isoform t.
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
AB007926.1
CAGE tag ID
NA
EST ID
NA
Clone Number
HG0693
Experimental resources
NBRC
;
HGPD
;
Antibody (DISC2)
;
Catalog (DISC2)
;
Sequence data provider
Provider:
KDRI
;
Annotation project
H-Invitational FLcDNA
Length of cDNA
6833[bp] (No. of exon:13)[A:1861 T:1725 G:1638 C:1609]
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
GCAGCCCAGGCGGAGCGGGAGGAGCTGGCAGCGGGGCGCATGCCAGGCGG GGGTCCTCAGGGCGCCCCAGCCGCCGCCGGCGGCGGCGGCGTGAGCCACC GCGCAGGCAGCCGGGATTGCTTACCACCTGCAGCGTGCTTTCGGAGGCGG CGGCTGGCACGGAGGCCGGGCTACATGAGAAGCTCGACAGGGCCTGGGAT CGGGTTCCTTTCCCCAGCAGTGGGCACACTGTTCCGGTTCCCAGGAGGGG TGTCTGGCGAGGAGTCCCACCACTCGGAGTCCAGGGCCAGACAGTGTGGC CTTGACTCGAGAGGCCTCTTGGTCCGGAGCCCTGTTTCCAAGAGTGCAGC AGCCCCTACTGTGACCTCTGTGAGAGGAACCTCGGCGCACTTTGGGATTC AGCTCAGAGGTGGCACCAGATTGCCTGACAGGCTTAGCTGGCCGTGTGGC CCTGGGAGTGCTGGGTGGCAGCAAGAGTTTGCAGCCATGGATAGTTCTGA GACCCTGGACGCCAGCTGGGAGGCAGCCTGCAGCGATGGAGCAAGGCGTG TCCGGGCAGCAGGCTCTCTGCCATCAGCAGAGTTGAGTAGCAACAGCTGC AGCCCTGGCTGTGGCCCTGAGGTCCCCCCAACCCCTCCTGGCTCTCACAG TGCCTTTACCTCAAGCTTTAGCTTTATTCGGCTCTCGCTTGGCTCTGCCG GGGAACGTGGAGAAGCAGAAGGCTGCCCACCATCCAGAGAGGCTGAGTCC CATTGCCAGAGCCCCCAGGAGATGGGAGCCAAAGCTGCCAGCTTGGACGG GCCTCACGAGGACCCGCGATGTCTCTCTCAGCCCTTCAGTCTCTTGGCTA CACGGGTCTCTGCAGACTTGGCCCAGGCCGCAAGGAACAGCTCCAGGCCA GAGCGTGACATGCATTCTTTACCAGACATGGACCCTGGCTCCTCCAGTTC TCTGGATCCCTCACTGGCTGGCTGTGGTGGTGATGGGAGCAGCGGCTCAG GGGATGCCCACTCTTGGGACACCCTGCTCAGGAAATGGGAGCCAGTGCTG CGGGACTGCCTGCTGAGAAACCGGAGGCAGATGGAGGTAATATCCTTAAG ATTAAAACTTCAGAAACTTCAGGAAGATGCAGTTGAGAATGATGATTATG ATAAAGCTGAGACGTTACAACAAAGATTAGAAGACCTGGAACAAGAGAAA ATCAGCCTGCACTTTCAACTTCCTTCAAGGCAGCCAGCTCTTAGCAGTTT CCTGGGTCACCTGGCAGCACAAGTCCAGGCTGCCTTGCGCCGTGGGGCCA CTCAGCAGGCCAGCGGAGATGACACCCACACCCCACTGAGAATGGAGCCG AGGCTGTTGGAACCCACTGCTCAGGACAGCTTGCACGTGTCCATCACGAG ACGAGACTGGCTTCTTCAGGAAAAGCAGCAGCTACAGAAAGAAATCGAAG CTCTCCAAGCAAGGATGTTTGTGCTGGAAGCCAAAGATCAACAGCTGAGA AGGGAAATAGAGGAGCAAGAGCAGCAACTCCAGTGGCAGGGCTGCGACCT GACCCCACTGGTGGGCCAGCTGTCCCTGGGTCAGCTGCAGGAGGTCAGCA AGGCCTTGCAGGACACCCTGGCCTCAGCCGGTCAGATTCCCTTCCATGCA GAGCCACCGGAAACCATAAGGAGCCTCCAGGAAAGAATAAAATCCCTCAA CTTGTCACTTAAAGAAATCACTACTAAGGTGTGTATGAGTGAGAAATTCT GCAGCACCCTGAGGAAGAAAGTTAACGATATTGAAACCCAACTACCAGCC TTGCTTGAAGCCAAAATGCATGCCATATCAGGAAACCATTTCTGGACGGC TAAAGACCTCACCGAGGAGATTAGATCATTAACATCAGAGAGAGAAGGGC TGGAGGGACTCCTCAGCAAGCTGTTGGTGTTGAGTTCCAGGAATGTCAAA AAGCTGGGAAGTGTTAAAGAAGATTACAACAGACTGAGAAGAGAAGTGGA GCACCAGGAGACTGCCTATGAAACAAGTGTGAAGGAAAATACTATGAAGT ACATGGAAACACTTAAGAATAAACTGTGCAGCTGCAAGTGTCCACTGCTT GGGAAAGTGTGGGAAGCTGACTTGGAAGCTTGTCGATTGCTTATCCAGAG CCTACAGCTCCAGGAAGCCAGGGGAAGCCTGTCTGTAGAAGATGAGAGGC AGATGGATGACTTAGAGGGAGCTGCTCCTCCTATTCCCCCCAGGCTCCAC TCCGAGGATAAAAGGAAGACCCCTTTGAAGGAATCTTACATCCTTTCTGC AGAACTTGGAGAAAAGTGTGAAGACATAGGCAAGAAGCTATTGTACTTGG AAGATCAACTTCACACAGCAATCCACAGTCATGATGAAGATCTCATTCAG TCTCTCAGGAGGGAGCTCCAGATGGTGAAGGAAACTCTGCAGGCCATGAT CCTGCAGCTCCAGCCAGCAAAGGAGGCGGGAGAAAGAGAAGCTGCAGCTT CCTGCATGACAGCTGGTGTCCACGAAGCACAAGCCTGAGGAGTGACGGGA TGGGGGAGGGAGGTGGGCCACCATGTTTGGACCCGGGGGGCTGCTCTTCC CTCCCCCGCCATAGCTAAGATGCCTGAATCAATTACGGAGATACAGAGCC TTGAGGTCTTTCAGTGGAAAGGTGGTTCATGTTCATTCTCATCAGTGTGA AACTGAGGAGTCTGCAATTTGGAATATGGAGAGAGAGACTGATTTGCTGA ATTTCCTTCTAAATGTCACTCAAAAATTTCTTTTCCATGTCATTCTTGGG AATGTCTTCCACAGGATTTGAGAATAGTTTCATCTCAGCCCCCATTAGAG AGAAGTTGGGGTGAATTCTGGAAAAATGTCTCTTTTTCCTGTGCCATTTG CCTTCTGCTGCAACGAAAATATTTCCTGATTCAAGATTCTATAAAAAGGA AACCAAGCATAAGACTCTGTCATCATACCTGTTACACGTTCCTACAGGTG CACAATCTAAGAGAGCTAATTAACCTCAGAGTCTGGAGTTAACAGCTTTT CACCTTACTTCTCCTGTGATCTAATATTATCTTAGAAAAATTAATATGCA ATTTCCAAAAGATATTTTGGTAAGACAACAACCTCCCAGTGATATGCCAC CTTTCAATTTTCCTTTTGTGGCAATGATTGCATCTGAAGAAAGGATCCCT GAGAGTCTCTGTTTCATCAGGACATTCTGAAATTTACCCACAGTGAGGCT GTGGATGGATCAGGGGACCTGTATAAAATGTTTGAGCCTGTTCCATTTTC CCGTGGAACCTGTTTCACTCAATGCCAGGCAGTGCAGCATTTAGGAAAGC AGTGCAGTACTCAGTAAGGCAGTGCAGTACTCAGTAACACAATACAGTAC TCAGGCAGTGCAGTACTCAGTAAGACAGTGCAGTGCTCAGTAAGGCAGTG CAATACTCAGTAACAGTGTAGTACTCAGTAACAGTGAAGTACTCAGTAAT ACAGTACAGTATTCAGTAAGGCAGTGAAGTACTCAGTAATACAATACAGT ACTCAGTTAGGCAGTGCAGTACTCAGGAATGCAGCACAGTACTCAGGCAG TGCAATACTCAGTGCGGTACTCAGTAACACAGTGCAGTACTCAGTAACAG TGCAGTACTCAGTAACAGTGCAGTACTCAGTAAGGCAGTGCAGTACTCAG TAACACAGTGCAGTACTCAGTAATACAGTACAGTACTCAGTAAGGCAGTA TGGTACTCAGTAAAGCAATGCAATGCTCAGTAACACAGTGCAGTGCTCAA TAAGGCAGTGCAGTGCTCAGTAAGGCAGTGAATTGCTTAGTAACACAGTG TAGTGCTCAGTAGGACAGCATAGTACTCAGTAACACAGGGCAGCTAGTAC TCAGTACTATAAGTACTGAGTACTTATATAGGCAATGTAGTACTCAGTAA ATCAGTGCAGTACTCAGTAATGCAAGGGCATTTCAGGCTCCTGCTGGGCT GCTTCTTTGGCCCAGCTGGGACTCCTATTGAGACAGCTGCAAAACAGGCT GATTTCAATTAGGCAGCACTTCCCAAAGTGCACTGAGGAAGGTGGCCCCA AGAGAAGCTCTCTAAACAAAGGAGTACCCTCTCTGGTCAAGTACCTTTGG TAAATACACCATACCATAATATCTGCTTGGAGAACCACAATGCACATTAG CATATTAGTCTGAGAGAGAACTTATAGTAAGGAAACTCACTTGATTTTAT CTAACCTCAAACTTTCCAAGTTTAATGGATCGTGAATTTTTTTCATGTAA CTCCTATTCATATCCCATAGATCTAGTATTGTACAGCACTGCATTCTCTG AGGAAGTCCCAGTCCAAACTCTGATTTACATCACTTTAGAAACCACACTC ACACTTTTGCAGAGTGTTGAGCTTAATAACTACCTGCCACAGATTGGTAA ATTTAATCCAGTGGTTGTTCTGTTTGTGCTTCTGTTCTCATTTATGTGTT TAGGGATAGTGAGGTTCCTGCCTTCACTAGGATCCACGGATATGAGACCA TTTTTGTCATTTCCTGAAGTCACACTGGCGTTTCCAGAAGGCATCTGGTG CTTTGCTCAGCCTTCCATGCTGTGCAGCACTTCTGTCCTCAGTCAAGGAG ATGGCCATGCTTAAGCCAGCAATTGGCTGGGGTCCAGGAAACAAAGCAAA AGCACAATATGTGAATGTGCTGATTGTGTTCCCTATGGCTTTATCTCGAG CAAAATACACTCTACATATTTTAATAATAAGTATAATTAGCTTGTTCCTG GACTTCATTTTCAATGATGAACCAAATTCCTGAATTATTTATAATTGTGT CTAAAGAAAATTATGAACTGGTCACATGGCACTTGGAATCCTTGAGTTAA TTCCAGTGAAGCAAAACTTGGGAAGAGTCAGGATTGGCCACATTGCCAAT AACAAATTCCTACTTCGACATATGTCTTTTCAAAAAGCCTCCCAGACACA AGACATCTTAACCGTCACTAGCCCAAGTGTTTTGTATTACTCAGACACCA TCATGAAATAATTCTGTGAGGTCATGATGTATTTGAAAATTCTGCAAGTT AATAACTGCCTTGAATTGTTTGAACCCGAAATAAGGGTTCTTTGGTACCT CTAGTAGATAGTGTGTTCATTTCCCTGCTGCAAATTTTGAAGTATTTGGG CAGGTGAGTCATGTTTTAACCACAAGCCATAACTCATCTGTTGTCTTTGC TTGGTCTTAGAGTATCATTCAGAAAGTCCGCTAAGGGCCAGCGTGCTTCT TCTGGCTACACAACCTTCTCAGGACAAGCCCACTGTCTTAAGCCACTTTG ACCCTGGGAGACACAGGACTGTGTATCCTCAATCATACTATACAGCAGTT TTTGTCAGGGGAACATAAAAATATCCAAGAGAGGTTAGGGCTTAGATTTA AAAGCATCAAAACAACAACAATGGAAATTTATGTTGGCGATAGCCAAGAC CACAAGCAAAAGCACATACTGGAAATGATGAGTTAGAATCTGATTTGACT GGGATGTTTTATGAGAATGTAAGTGTGATATTATACTGTCTGCCTTGCTG GAATGCTGGCTTTCAAATGGTCACCCATTTTTCTTTCACTGGCCTGAGTT AGGACATGCTATCAGTAATAGTCCCAGTTCCATCCAACTTTCTGAAATTT CATTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCCAAGTTGGAGTGC AGTGGCCCCGCAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCAAG CTATTCTACTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATTTGCC ACCGGGCCCTGATGATTTTTGTATTTTTAGTAGAGACAGGGCTTCACCAT GTTGGCTAGGAGGGTCTCAAACTCCTGACCTCAGGCGATCCACCCCCACC TCGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCACCCGGCC AACTTTCTGAAATTTCAAAACTGAATTGATCCTTCTCCAAATTAGTATAT ACTATTGGAAACTTGTCTTTCCCTGCAGTAAGGCTGGTTTCCCCACCCCA GAAACATGTAACGGTTGGTACCATGCTAAGCCCTTGCCATGCTAAGCCCT TTACAGTCATATCCTATAATCCCCATATCAACCTTATAAGGAAGGTGTTT GTAGATGATGCAACTGAGCCTTAAGAGGACTAATTCCCTTTTTCTAAGGC ACAGAGCTGGTAAAATGTGAAGTAATAGTGAACCTAACAGTCAGAGACAG GCAGCATGCTCTTAACTAGTGCTCTTCCTAAAGTTCCTTTAATGTCCTTT TGAGATTTTGAGCCATGGAACTTACTTGTTCACCTGGCTAAGAACTCATG GCCACTGTGGAAATCTTGGTTAGGGAGTCAAAGAAACTGAGCCTGGGGCA AACGAGGCTTCCCACACTGCCAGGGGAGCCTCACTGTGAAGTCTAGGCTC AGACAGGCATCAACAAACCTATTCACCCCACCATCATCCTGATCTAACCA TTCCCCAGTCATCCCAGGAAAACCACTCACAGCCTGACACTGGGCTGACT TTCTTGAAGATCCTCATCCAATTGGTGTTTTTCAGAAGTGTTCCAATATT ATGAATTCTGTGTTGTGGAGAAAAGCAACCATGCATTTACTGGTCAATGC CTTCTTGTATATGTAATTCAATACTTTTACTTTTAATATCCTCACCTTAT CTAATCTTTGAATTTTGTCATGTAATTTATTGCTTCATTAAGGTTACTTT TTGTTATACAAAATAAAAGCTGATATCCAAGGC
Gene structure information
H-Inv cluster ID
HIX0022179
Genomic location
Chromosome
1
Location
1q42.2
Position
231762575- 232176872
Strand
+
Possible duplicated location(s)
NA
Gene structure
13 exon(s)
Database links
RefSeq
NA
Ensembl
NA
Entrez Gene
Entrez Gene ID:27185
;
KEGG GENES
KEGG GENES(27185)
;
GeneCard
DISC2
;
*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
HIP000083671
Predicted CDS
40..2538; 832[aa]; Orientation:+1;
Codon Adaptation Index (CAI).
0.76
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSST GPGIGFLSPAVGTLFRFPGGVSGEESHHSESRARQCGLDSRGLLVRSPVS KSAAAPTVTSVRGTSAHFGIQLRGGTRLPDRLSWPCGPGSAGWQQEFAAM DSSETLDASWEAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPP GSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQSPQEMGAKAA SLDGPHEDPRCLSQPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPG SSSSLDPSLAGCGGDGSSGSGDAHSWDTLLRKWEPVLRDCLLRNRRQMEV ISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHV SITRRDWLLQEKQQLQKEIEALQARMFVLEAKDQQLRREIEEQEQQLQWQ GCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERI KSLNLSLKEITTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNH FWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLGSVKEDYNRLR REVEHQETAYETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADLEACRL LIQSLQLQEARGSLSVEDERQMDDLEGAAPPIPPRLHSEDKRKTPLKESY ILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETL QAMILQLQPAKEAGEREAAASCMTAGVHEAQA*
Gene function information
H-Inv ID
HIT000000174
H-Inv cluster ID
HIX0022179
Accession number
AB007926.1
CAGE tag ID
NA
EST ID
NA
Transcript feature
NO;
Coding potential
Protein coding;
Definition
Similar to Disrupted in schizophrenia 1 protein isoform t.
Similarity category
Category: Similar to known protein(Category II).
Similar to known protein (
NP_001158028
) [Identity/coverage = 100.0%/85.57%] 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
DISC2
HGNC aliases
NA
HGNC name
disrupted in schizophrenia 2 (non-protein coding)
DDBJ
KIAA0457
UniProt
NA
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
HIP000083671
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:27185
;
KEGG GENES
KEGG GENES(27185)
;
GeneCard
DISC2
;
*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
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
699
818
1gqeA
4e-05
19.5
113/100
e.38.1.1
Related H-InvDB links
GTOP
Gene expression information
Last modified:27-May-2015
Tissue-specific expression
NA
Probe
information
AceGene
AGhsA111314;
Affymetrix
GeneChip
HG-Focus
206090_s_at;
HG-U133
206090_s_at; 217330_at;
HG-U133A
206090_s_at; 217330_at;
HG-U133A_2
206090_s_at; 217330_at;
HG-U133B
NA
HG-U133_Plus_2
206090_s_at; 217330_at;
HG-U95
39603_at;
HG-U95A
39603_at;
HG-U95B
NA
HG-U95C
NA
HG-U95D
NA
HG-U95E
NA
HG-U95Av2
NA
HuEx-1_0
2385344; 2385345; 2385355; 2385356; 2385357; 2385358; 2385359; 2385362; 2385380; 2385385; 2385386; 2385389; 2385390; 2385391; 2385399; 2385402; 2385407; 2385430; 2385443; 2385453; 2385457; 2385458; 2460646; 2460648; 2460739;
HuGeneFL
NA
Agilent
Human 1A Oligo Microarray:PGID215
A_23_P62967;
Whole Human Genome Oligo Microarray:PGID247
A_23_P62967; A_24_P83787;
Related H-InvDB links
H-ANGEL
;
DNAProbeLocator
;
Disease/pathology information
Last modified:27-May-2015
Disease relation
Disease name: {Schizoaffective disorder, susceptibility to} (
181500
); Disease name: {Schizophrenia, susceptibility to} (
604906
);
Related information in OMIM
OMIM ID:
605210
; Title: DISRUPTED IN SCHIZOPHRENIA 1
Co-localized orphan diseases
NA
Disease related mutation
MutationView:
605210
;
JRE-1.4.0 or later is required.Download JRE at
Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA)
Gene name
Entrez Gene ID:(27185)
Disease
Entrez Gene ID:(27185)
Substance
Entrez Gene ID:(27185)
Related H-InvDB links
DiseaseInfo Viewer
;
LEGENDA
;
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
33 .. 33
G/A
rs3738399
+
5'UTR
53 .. 53
G/T
rs3738400
+
CDS
Nonsynonymous[Gly5Val]
77 .. 77
C/G
rs79978593
+
CDS
Nonsynonymous[Ala13Gly]
111 .. 111
C/A
rs142035917
+
CDS
Nonsynonymous[Ser24Arg]
113 .. 113
G/A
rs143922209
+
CDS
Nonsynonymous[Arg25Gln]
148 .. 148
C/T
rs202102981
+
CDS
Nonsynonymous[Arg37Trp]
151 .. 151
C/T
rs137948488
+
CDS
Nonsynonymous[Arg38Trp]
160 .. 160
C/T
rs202017627
+
CDS
Nonsynonymous[Arg41Trp]
235 .. 235
C/T
rs147261047
+
CDS
Nonsynonymous[Arg66Trp]
250 .. 250
G/T
rs149444280
+
CDS
Nonsynonymous[Val71Leu]
258 .. 258
C/T
rs201590659
+
CDS
Synonymous[Gly73Gly]
266 .. 266
C/T
rs77062350
+
CDS
Nonsynonymous[Ser76Phe]
275 .. 275
C/T
rs138332232
+
CDS
Nonsynonymous[Ser79Leu]
287 .. 287
C/T
rs76175896
+
CDS
Nonsynonymous[Ala83Val]
294 .. 294
G/A
rs199501041
+
CDS
Synonymous[Gln85Gln]
308 .. 308
C/T
rs200850282
+
CDS
Nonsynonymous[Ser90Leu]
309 .. 309
G/A
rs145101392
+
CDS
Synonymous[Ser90Ser]
329 .. 329
G/C
rs150563134
+
CDS
Nonsynonymous[Ser97Thr]
330 .. 330
C/T
rs149755964
+
CDS
Synonymous[Ser97Ser]
355 .. 355
C/A
rs34574703
+
CDS
Nonsynonymous[Pro106Thr]
386 .. 386
C/T
rs56020408
+
CDS
Nonsynonymous[Ala116Val]
387 .. 387
G/A
rs189101828
+
CDS
Synonymous[Ala116Ala]
405 .. 405
C/A
rs140910315
+
CDS
Synonymous[Leu122Leu]
472 .. 472
C/T
rs151311391
+
CDS
AA-STOP[Gln145*]
496 .. 496
T/C
rs201600649
+
CDS
Nonsynonymous[Ser153Pro]
505 .. 505
C/A
rs150489951
+
CDS
Nonsynonymous[Leu156Met]
518 .. 518
G/T
rs143796295
+
CDS
Nonsynonymous[Trp160Leu]
521 .. 521
A/G
rs139091980
+
CDS
Nonsynonymous[Glu161Gly]
530 .. 530
G/T
rs181767113
+
CDS
Nonsynonymous[Cys164Phe]
547 .. 547
C/T
rs186593988
+
CDS
Nonsynonymous[Arg170Cys]
594 .. 594
C/T
rs139667828
+
CDS
Synonymous[Asn185Asn]
616 .. 616
C/T
rs112577310
+
CDS
Nonsynonymous[Pro193Ser]
628 .. 628
C/G
rs141270877
+
CDS
Nonsynonymous[Pro197Ala]
633 .. 633
C/A
rs201901960
+
CDS
Synonymous[Thr198Thr]
666 .. 666
C/T
rs200704946
+
CDS
Synonymous[Ser209Ser]
680 .. 680
G/A
rs199617790
+
CDS
Nonsynonymous[Arg214Gln]
686 .. 686
C/T
rs139420445
+
CDS
Nonsynonymous[Ser216Leu]
707 .. 707
G/A
rs146439119
+
CDS
Nonsynonymous[Arg223His]
737 .. 737
G/A
rs201249128
+
CDS
Nonsynonymous[Arg233Lys]
746 .. 746
A/C
rs201556843
+
CDS
Nonsynonymous[Glu236Ala]
749 .. 749
C/A
rs199530992
+
CDS
Nonsynonymous[Ser237Tyr]
798 .. 798
C/T
rs113312552
+
CDS
Synonymous[Asp253Asp]
805 .. 805
C/G
rs199893176
+
CDS
Nonsynonymous[His256Asp]
818 .. 818
G/A
rs149702548
+
CDS
Nonsynonymous[Arg260Gln]
829 .. 829
C/T
rs148973353
+
CDS
AA-STOP[Gln264*]
830 .. 830
A/G
rs3738401
+
CDS
Nonsynonymous[Gln264Arg]
846 .. 846
G/T
rs146356052
+
CDS
Nonsynonymous[Leu269Phe]
854 .. 854
G/A
rs141459782
+
CDS
Nonsynonymous[Arg272Gln]
855 .. 855
G/A
rs201258158
+
CDS
Synonymous[Arg272Arg]
879 .. 879
C/T
rs138228295
+
CDS
Synonymous[Ala280Ala]
899 .. 899
C/T
rs146244276
+
CDS
Nonsynonymous[Pro287Leu]
904 .. 904
C/T
rs201677901
+
CDS
Nonsynonymous[Arg289Cys]
907 .. 907
G/C
rs181037363
+
CDS
Nonsynonymous[Asp290His]
1016 .. 1016
G/T
rs142641202
+
CDS
Nonsynonymous[Trp326Leu]
1022 .. 1022
C/A
rs55795950
+
CDS
Nonsynonymous[Thr328Asn]
1027 .. 1027
C/T
rs34622148
+
CDS
Nonsynonymous[Leu330Phe]
1073 .. 1073
G/A
rs77080351
+
CDS
Nonsynonymous[Arg345Gln]
1079 .. 1079
A/G
rs76372333
+
CDS
Nonsynonymous[Gln347Arg]
1087 .. 1087
G/T
rs78640112
+
CDS
Nonsynonymous[Val350Leu]
1144 .. 1144
G/A
rs139096455
+
CDS
Nonsynonymous[Asp369Asn]
1167 .. 1167
A/G
rs200802543
+
CDS
Synonymous[Leu376Leu]
1288 .. 1288
C/T
rs193024019
+
CDS
Nonsynonymous[Arg417Cys]
1289 .. 1289
G/A
rs201902199
+
CDS
Nonsynonymous[Arg417His]
1292 .. 1292
G/A
rs144959108
+
CDS
Nonsynonymous[Arg418His]
1300 .. 1300
A/G
rs148920333
+
CDS
Nonsynonymous[Thr421Ala]
1315 .. 1315
G/A
rs200019964
+
CDS
Nonsynonymous[Gly426Arg]
1334 .. 1334
C/T
rs78792190
+
CDS
Nonsynonymous[Pro432Leu]
1349 .. 1349
C/T
rs142645368
+
CDS
Nonsynonymous[Pro437Leu]
1386 .. 1386
C/T
rs116628628
+
CDS
Synonymous[His449His]
1387 .. 1387
G/A
rs149233802
+
CDS
Nonsynonymous[Val450Met]
1395 .. 1395
C/T
rs34268403
+
CDS
Synonymous[Ile452Ile]
1397 .. 1397
C/T
rs28930675
+
CDS
Nonsynonymous[Thr453Met]
1398 .. 1398
G/A
rs144844117
+
CDS
Synonymous[Thr453Thr]
1403 .. 1403
G/A
rs78852015
+
CDS
Nonsynonymous[Arg455Gln]
1432 .. 1432
C/T
rs3738402
+
CDS
Synonymous[Leu465Leu]
1446 .. 1446
C/T
rs2492367
+
CDS
Synonymous[Ile469Ile]
1447 .. 1447
G/A
rs138886515
+
CDS
Nonsynonymous[Glu470Lys]
1456 .. 1456
C/T
rs200412573
+
CDS
AA-STOP[Gln473*]
1473 .. 1473
G/T
rs144785732
+
CDS
Synonymous[Val478Val]
1490 .. 1490
A/G
rs199502948
+
CDS
Nonsynonymous[Gln484Arg]
1555 .. 1555
C/T
rs150294573
+
CDS
Nonsynonymous[Pro506Ser]
1572 .. 1572
G/T
rs145261336
+
CDS
Synonymous[Leu511Leu]
1600 .. 1600
A/T
rs143500026
+
CDS
AA-STOP[Lys521*]
1628 .. 1628
C/G
rs200669845
+
CDS
Nonsynonymous[Ala530Gly]
1630 .. 1630
G/C
rs56229136
+
CDS
Nonsynonymous[Gly531Arg]
1655 .. 1655
C/T
rs147158825
+
CDS
Nonsynonymous[Pro539Leu]
1658 .. 1658
C/A/G
rs143165003
+
CDS
1659 .. 1659
G/A
rs148583596
+
CDS
Synonymous[Pro540Pro]
1720 .. 1720
A/G
rs76230451
+
CDS
Nonsynonymous[Thr561Ala]
1761 .. 1761
G/A
rs201489476
+
CDS
Synonymous[Leu574Leu]
1763 .. 1763
G/A
rs202013247
+
CDS
Nonsynonymous[Arg575Lys]
1795 .. 1795
C/G
rs192018321
+
CDS
Nonsynonymous[Pro586Ala]
1837 .. 1837
C/A
rs143689741
+
CDS
Nonsynonymous[His600Asn]
1847 .. 1847
C/T
rs148111679
+
CDS
Nonsynonymous[Thr603Met]
1848 .. 1848
G/A
rs117884450
+
CDS
Synonymous[Thr603Thr]
1858 .. 1858
C/T
rs6675281
+
CDS
Nonsynonymous[Leu607Phe]
1863 .. 1863
C/T
rs140611432
+
CDS
Synonymous[Thr608Thr]
1864 .. 1864
G/A
rs150138912
+
CDS
Nonsynonymous[Glu609Lys]
1874 .. 1874
G/A
rs200043911
+
CDS
Nonsynonymous[Arg612Lys]
1902 .. 1902
G/A
rs12133766
+
CDS
Synonymous[Leu621Leu]
1975 .. 1975
T/C
rs148065829
+
CDS
Nonsynonymous[Tyr646His]
2027 .. 2027
G/A
rs201138012
+
CDS
Nonsynonymous[Ser663Asn]
2134 .. 2134
C/G
rs190975963
+
CDS
Nonsynonymous[Arg699Gly]
2145 .. 2145
C/A
rs2806455
+
CDS
Synonymous[Ile702Ile]
2149 .. 2149
A/T
rs821616
-
CDS
Nonsynonymous[Ser704Cys]
2211 .. 2211
C/T
rs112054353
+
CDS
Synonymous[Asp724Asp]
2241 .. 2241
C/A
rs138051341
+
CDS
Synonymous[Pro734Pro]
2343 .. 2343
G/A
rs200687715
+
CDS
Synonymous[Leu768Leu]
2475 .. 2475
G/A
rs41271517
+
CDS
Synonymous[Glu812Glu]
2558 .. 2558
G/C
rs112807868
+
3'UTR
2735 .. 2735
G/C
rs75779221
+
3'UTR
2747 .. 2747
C/A
rs113238366
+
3'UTR
2789 .. 2789
G/T
rs79424400
+
3'UTR
2790 .. 2790
T/A
rs75712790
+
3'UTR
2799 .. 2799
G/A
rs3737597
-
3'UTR
2804 .. 2804
G/A
rs201730777
+
3'UTR
2838 .. 2838
G/T
rs11589636
+
3'UTR
2844 .. 2844
A/C
rs112303659
+
3'UTR
2863 .. 2863
G/A
rs77178075
+
3'UTR
2888 .. 2888
C/T
rs201571443
+
3'UTR
2943 .. 2943
A/G
rs72762368
+
3'UTR
3079 .. 3079
A/T
rs140751631
+
3'UTR
3135 .. 3135
C/T
rs60193126
+
3'UTR
3153 .. 3153
T/C
rs142965400
+
3'UTR
3154 .. 3154
T/C
rs150851326
+
3'UTR
3171 .. 3171
G/A
rs139283763
+
3'UTR
3196 .. 3196
T/C
rs200513980
+
3'UTR
3201 .. 3201
G/T
rs193108907
+
3'UTR
3311 .. 3311
T/A
rs78591239
+
3'UTR
3349 .. 3349
G/A
rs112847297
+
3'UTR
3357 .. 3357
G/C
rs150006709
+
3'UTR
3402 .. 3402
C/T
rs113782883
+
3'UTR
3482 .. 3482
C/T
rs11578905
+
3'UTR
3512 .. 3512
T/C
rs2776624
+
3'UTR
3521 .. 3521
G/T
rs61835610
+
3'UTR
3605 .. 3605
A/G
rs148449456
+
3'UTR
3615 .. 3615
C/T
rs144167464
+
3'UTR
3646 ^ 3647
-/AC
rs200410500
+
3'UTR
3649 ^ 3650
-/CA
rs200308759
+
3'UTR
3664 ^ 3665
-/AC
rs201348679
+
3'UTR
3707 .. 3707
A/T
rs185364817
+
3'UTR
3748 .. 3748
G/T
rs190557668
+
3'UTR
3858 .. 3858
C/T
rs112263707
+
3'UTR
3906 .. 3906
A/G
rs116099257
+
3'UTR
3913 .. 3913
G/A
rs55900971
+
3'UTR
3917 .. 3917
T/G
rs199656948
+
3'UTR
3993 .. 3993
G/A
rs199803540
+
3'UTR
4014 .. 4014
A/T
rs9661748
+
3'UTR
4075 .. 4075
A/G
rs146507244
+
3'UTR
4134 .. 4134
T/C
rs9729179
+
3'UTR
4227 .. 4227
G/A
rs41303125
+
3'UTR
4276 .. 4276
T/C
rs41307732
+
3'UTR
4282 .. 4282
G/A
rs9793915
+
3'UTR
4316 .. 4316
C/T
rs201868454
+
3'UTR
4360 .. 4360
C/T
rs200522264
+
3'UTR
4387 .. 4387
T/C
rs186349418
+
3'UTR
4404 .. 4404
C/A
rs187957550
+
3'UTR
4414 .. 4414
G/T
rs201271103
+
3'UTR
4506 .. 4506
A/G
rs140824380
+
3'UTR
4647 .. 4647
G/A
rs201643607
+
3'UTR
4711 .. 4711
G/C
rs202081292
+
3'UTR
4736 .. 4736
T/C
rs1411771
+
3'UTR
4748 .. 4748
G/A
rs201847001
+
3'UTR
4875 .. 4875
C/T
rs144565562
+
3'UTR
4899 .. 4899
A/G
rs9661837
+
3'UTR
4934 .. 4934
T/C
rs200435335
+
3'UTR
4949 .. 4949
A/G
rs41303123
+
3'UTR
4973 .. 4973
T/C
rs201683942
+
3'UTR
4995 .. 4995
G/A
rs72762370
+
3'UTR
5014 .. 5014
G/A
rs202239225
+
3'UTR
5051 .. 5051
T/C
rs180865071
+
3'UTR
5096 .. 5096
A/C
rs112775285
+
3'UTR
5109 .. 5109
C/T
rs151172119
+
3'UTR
5112 .. 5112
T/C
rs201198022
+
3'UTR
5128 .. 5128
G/A
rs201925191
+
3'UTR
5147 .. 5147
A/T
rs185422574
+
3'UTR
5229 .. 5229
A/G
rs11122396
+
3'UTR
5273 .. 5273
A/C
rs140238958
+
3'UTR
5280 .. 5280
G/A
rs200225551
+
3'UTR
5287 .. 5287
G/A
rs150323238
+
3'UTR
5374 .. 5374
T/C
rs138289086
+
3'UTR
5382 .. 5382
A/G
rs76310864
+
3'UTR
5466 .. 5466
C/T
rs143979122
+
3'UTR
5483 .. 5483
G/A
rs201096400
+
3'UTR
5513 .. 5513
C/T
rs114066143
+
3'UTR
5516 .. 5516
A/G
rs201296840
+
3'UTR
5520 .. 5520
T/G
rs113563872
+
3'UTR
5530 .. 5530
G/A
rs41303103
+
3'UTR
5626 .. 5626
C/G
rs78843900
+
3'UTR
5657 ^ 5658
-/GTCT
rs139756128
+
3'UTR
5658 ^ 5659
-/CTGT
rs35280852
+
3'UTR
5659 ^ 5660
-/CTGT
rs66812730
+
3'UTR
5660 ^ 5661
-/GTCT
rs3028413
+
3'UTR
5661 .. 5661
A/G
rs200157280
+
3'UTR
5661 ^ 5662
-/GTCT
rs35621458
+
3'UTR
5706 .. 5706
T/C
rs9729647
+
3'UTR
5714 .. 5714
G/T
rs79148624
+
3'UTR
5813 .. 5813
C/T
rs191369449
+
3'UTR
5827 .. 5827
T/C
rs139295216
+
3'UTR
5854 .. 5854
G/A
rs183575865
+
3'UTR
5855 .. 5855
G/A
rs143007031
+
3'UTR
5905 .. 5905
G/A
rs186909557
+
3'UTR
5936 .. 5936
C/T
rs144699433
+
3'UTR
5980 .. 5980
T/G
rs77476692
+
3'UTR
5990 .. 5990
C/T
rs12404162
+
3'UTR
5997 .. 5997
G/T
rs191945184
+
3'UTR
6022 .. 6022
T/C
rs183285639
+
3'UTR
6112 .. 6112
C/T
rs74392082
+
3'UTR
6113 .. 6113
G/A
rs187910126
+
3'UTR
6156 .. 6156
G/T
rs980989
+
3'UTR
6213 .. 6213
A/G
rs148085646
+
3'UTR
6267 .. 6267
G/A
rs9308481
+
3'UTR
6269 ^ 6270
-/A
rs34473218
+
3'UTR
6277 .. 6277
A/T
rs189689658
+
3'UTR
6371 .. 6371
C/A
rs182466393
+
3'UTR
6472 .. 6472
A/G
rs200923506
+
3'UTR
6517 .. 6517
A/G
rs187175205
+
3'UTR
6535 .. 6535
C/G
rs200835938
+
3'UTR
6560 .. 6560
C/T
rs114459058
+
3'UTR
6722 .. 6722
T/C
rs115493305
+
3'UTR
6730 .. 6730
C/T
rs11803088
+
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
MER103C
4064
4330
-
AluSx1
5698
6000
-
MIRb
6124
6318
-
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;