H-InvDB_9.0 released on May 27, 2015.
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
H-Invitational ID:
HIT000000479
Accession number:
AB018297
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Similar to Uncharacterized protein KIAA0754;
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
AB018297.2
CAGE tag ID
NA
EST ID
NA
Clone Number
hh06485
Experimental resources
NBRC
;
HGPD
;
Antibody (KIAA0754)
;
Catalog (KIAA0754)
;
Sequence data provider
Provider:
KDRI
;
Annotation project
H-Invitational FLcDNA
Length of cDNA
5460[bp] (No. of exon:1)[A:1380 T:1376 G:1348 C:1356]
Devision
HUM
Molecular type
mRNA
Library origin
Cell type
NA
Tissue type
brain
Develpmental stage
adult
Sequence quality information
CDS feature
N-truncated
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
GATTCTCAAGTGCAACCTGGCCGAGGGCCACAAAAAGTTTAGCTAAGGGA GGCTTCAGTGAGAAGCAGCACCCCCTTGGGGACACAGCCTGCACTGTGGA AATGCCACCTCTCTCCCCTTGCCTGAGTGAAGAGCTGTTAGATCCAGAAT TGCATGTTCTCATAACCCCCAGCCTGAGAGAGAAAACAGAGTCTGAGCTA AAGTTTGAGGAGGATGAGCGATGGATTATGATGGAGGCTGAGGGAGAGTG GGAGGAAGAGAAACTGTCAGACAGGGAAAAGACTTTTCTGATGGCAGATG AGAAGAACAGCCTGGCAGATATTTTTGAAGAAAGAGAACAAGCAAACACA GCAGTGGTGGAGGATGGATCCGATTGCTTAGCTGCTGTCTTGAGGACTTT TGGCCACCTATCTCTTGGTCAGATTTGTTGCCCTGATGACCCACAGCCAG CCAAGGACCAGTTGGCTACTGTTCCCAAGGATATACCCCTGGATTGCGAT TGTGTTCTTACAGGTGAGGATATTCTCGGTGAGGTGGCAAACAGAACTGC TCAGGGGTTAGAGGGACTTGTTTCAGATTCAGCATGTACTGTGGGTACTA TTGATGCAGAACAGCTCTCTGACACAGACTCAGTGCAGATGTTTCTTGAA CTTGAAAAGGAGTGTTTATGTGAAGAAGGAGTAACTCCTCTAGTTGAGCT ACAGAATCAAATCTCTTCTGAAGGGCTGGCTGCATCCCAGGATGCAGAAA ATTTACTCGTAATTAGTCATTTTTCAGGGGCTGCCTTAGAAAAGGAACAG CATTTAGGCCTTTTACATGTAAGGGCAAAAGATTATGATACTAGATTGGA TTGTGGATATTTTAATACCCTGGATTCTTCTCAGGTGCCTAATGCTGTGG AACTTATTGCCCACGTTGATATCATGAGAGACACTTCCACTGTTAGCAAG GAGGAATGTGAAAAAGTGCCTTTTAGCCCCAGGACTGCAGAATTTAAGTC CAGACAGCCAGCTGATCTGGATTCACTGGAAAAGCTGGACCCAGGAGGAC TGCTGAACTCTGATCACAGGGTTTCTCATGAAGAAAAATTATCAGGCTTC ATTGCTTCTGAGCTGGCCAAAGACAATGGCAGTTTGTCCCAGGGAGACTG CAGTCAAACTGAGGGGAATGGTGAGGAGTGCATTGAGAGGGTCACCTTCA GTTTTGCTTTTAATCATGAACTAACAGATGTTACCTCAGGACCTGAAGTA GAGGTGTTATATGAATCAAATTTACTAACAGATGAAATTCATTTGGAAAG TGGGAATGTAACTGTTAATCAAGAAAATAACAGTCTGACATCAATGGGAA ATGTGGTCACTTGTGAATTGTCTGTGGAGAAAGTTTGTGATGAGGATGGT GAGGCAAAAGAGCTGGATTATCAAGCCACACTTTTGGAGGATCAAGCTCC AGCACATTTCCACAGAAACTTCCCAGAGCAGGTCTTCCAGGATCTCCAGA GGAAGTCCCCAGAGTCAGAGATTCTGAGTCTGCACCTGCTGGTTGAAGAA CTGAGACTTAATCCAGATGGAGTGGAAACTGTGAATGATACAAAGCCTGA GCTGAATGTGGCATCATCAGAGGGAGGGGAGATGGAAAGGAGAGATTCAG ATTCATTCCTAAATATTTTTCCAGAGAAACAAGTTACCAAGGCTGGTAAT ACTGAACCAGTTTTAGAGGAATGGATACCCGTCCTCCAGAGACCTTCCCG GACTGCTGCAGTACCCACTGTCAAAGATGCCCTAGATGCTGCACTGCCCA GCCCAGAGGAGGGTACCTCAATTGCTGCAGTGCCTGCCCCAGAGGGAACT GCTGTAGTTGCTGCTTTAGTGCCCTTTCCACATGAGGACATCCTAGTTGC TTCAATAGTCTCCTTAGAGGAGGAGGATGTCACAGCTGCTGCAGTATCAG CCCCAGAGAGGGCTACTGTCCCAGCTGTTACAGTATCTGTCCCTGAAGGG ACTGCTGCAGTTGCTGCAGTGTCCTCCCCAGAGGAGACTGCTCCAGCTGT TGCAGCAGCCATCACACAGGAGGGTATGTCAGCTGTCGCAGGGTTCTCCC CAGAGTGGGCTGCTTTAGCTATTACAGTACCCATCACAGAGGAGGATGGT ACACCAGAAGGGCCTGTCACCCCAGCTACCACAGTGCATGCTCCAGAGGA GCCTGATACTGCAGCTGTCAGAGTGTCCACCCCAGAGGAGCCCGCCTCCC CAGCTGCTGCAGTGCCCACCCCAGAGGAGCCCACCTCCCCAGCTGCTGCA GTGCCCACCCCAGAGGAGCCCACCTCCCCAGCTGCTGCAGTGCCCCCCCC AGAGGAGCCCACCTCCCCAGCTGCTGCAGTGCCCACCCCAGAGGAGCCCA CCTCCCCAGCTGCTGCAGTGCCCACCCCAGAGGAGCCCACCTCCCCAGCT GCTGCAGTGCCCACCCCAGAGGAGCCCACCTCCCCAGCTGCTGCAGTGCC CACCCCAGAGGAGCCCACCTCCCCAGCTGCTGCAGTGCCCACCCCAGAGG AGCCCACCTCCCCAGCTGCTGCAGTGCCCACCCCAGAGGAGCCCGCCTCC CCAGCTGCTGCAGTGCCCACCCCAGAGGAGCCCGCCTCCCCAGCTGCTGC AGTGCCCACCCCAGAGGAGCCTGCCTTCCCAGCTCCTGCAGTGCCCACCC CAGAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCCGAGGAATCT GCCTCCCCAGCTGCTGCAGTGCCCACCCCAGCAGAATCTGCCTCCTTTGC AGCTGTGGTGGCCACCCTGGAGGAACCCACTTCCCCGGCAGCTTCAGTGC CCACCCCTGCAGCTATGGTGGCCACCCTAGAGGAATTCACTTCCCCGGCA GCTTCAGTGCCCACCTCTGAGGAGCCTGCCTCCCTAGCAGCTGCAGTGTC CAACCCAGAGGAGCCCACCTCCCCAGCAGCAGCAGTGCCCACCCTAGAGG AACCCACCTCCTCAGCAGCTGCAGTGCTCACCCCAGAGGAACTCAGTTCC CCAGCAGCTTCAGTGCCCACCCCCGAGGAGCCTGCCTCCCCAGCAGCTGC AGTGTCCAACCTAGAGGAGCCCGCCTCCCCAGCAGCAGCAGTGCCCACCC CAGAGGTGGCTGCCATCCCTGCTGCTTCAGTGCCCACCCCAGAGGTGCCT GCCATCCCAGCTGCTGCAGTGCCTCCTATGGAGGAAGTTTCCCCCATTGG TGTGCCCTTCCTGGGAGTTTCTGCCCACACTGACTCAGTGCCTATTTCAG AAGAAGGAACACCTGTTCTAGAGGAGGCTTCCTCCACTGGAATGTGGATC AAGGAGGACCTTGATTCCCTAGTATTTGGCATAAAAGAGGTGACCAGCAC AGTGCTACATGGGAAAGTGCCTCTGGCTGCAACCGCTGGATTAAATTCAG ATGAGGTAATTGTCCATTTTGATTCTGGGAAGGGTCTAAAGAGTAAAGTG AGATTTGCAGGGCTGACCTGGTGGTGATGAGAAATGGCACAGATAGTTCT TTTGTTCTTTTTGGGTCTCCCGGGCTTATAGTTTGTAGTCTTTCTGTTCA GTTTTTGGGGAAAATATACTTTAATTTTGTCTGGTGAAAGACTTTATAAT TTCATGCTTCGTTTTTTATTCAGATAAGCCAATCCCACGGAAAACAGGGA TATAAACAGTTGTTGATTTACATTTTTAAAAAGATTATTAGCAGGAAAGG GTCATTCTGTTTTTGAATTATACAGTGAGCATGTTCTTGCCTAAACCAAG AGACAGTTTATTCATTGGTGGTGTCAACATTTAGGTAGAGGCCAGAGTGT GAGCTTTGGAATGAGACCTGGGGTGCTTCCTAACCACTCTGGGAAAATTA GTTAGCTATTCTTGAGTTTCCTGTTTCTTCATTTGTTAAGGCATAACTCT GTGAGGATAAAATGAGATACATTTAAGGTACCAAGCGTATAAGATTACCA ATCACTGGCCATATCCTCCCCATTCTTTTCAAATAGGTATGTTGGTTGGT TGAAAGAATTTACCAAAGTAGATTGGAGAGAAGCAATAAAGCTAAATGAT TAAGAACTTTTAAATGCAAATATGTGTTTCTGAAAACCAGAGCTAGGCAT AATGTTTATGAAAAATAGAGATATTTTAGTCATCTTTGTCAAACTGCCTT TGTGTCCTTAAGCAAGTCATTTTCCTTTCCAGGACCTCATTTCTTCATTA TAAAACAAGAAAATTGGGCTAAATGTCCTCTTGGGTCTCTCTTGGCTCTA AGATTCTTTTTATTTTTTTTTTTTGGATGGAGTCTGGCTCTGTCAGTCAG GCTGGAGTGCTAGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGGCTCCG CCTCCCGGGTTCACGCCGTTCTCCTGCCTCAGCCTCCCGAGTGGCTGGGA CTGCGGGCGCCCGCCACTACGCCCGGCAATTTTTTGTATATATATATATA TAATTTTTTTTTTTTTTTTTTGGTGGAGACGGGTTTCACTGTGTTGGCCA GGATGGTCTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAG AGTGCTGGGATTGCAGGCGTGAGCCACCGCGCCCAGCCGGCTCTAAGATT CTTAATGTTAGAGAACCGAATGTGTTAGGAAACAGTTGGAAACGATGTTC CACATCCTTGAGCACTCCTAGTCCAAGGAATTTGAGATCAGCAGCTTTCC ACAGTTAATTACCCAGGTTTGATTTGGTCAGTGGTAAAGAGTGCAGGAGT TAGAGGTTTAATCTGAACACAAGAGATGACTGAGTGAGAAGATTGTTTTG ATTTTACTGCGCCCCTAGGACTCAAAATAGTGCCTTCTTCATAGCAGGCA TTTGCTGTTGACTGACTGACTGAATGCATGAATATCAATTTCCTAGACTA TGGATGGATGCTACAAGAAAGATGGGTTTTCTCATTCACCTCACTGCAGA GCCTTTCAGGGCAGCCTTAAGTCAGCTAGAGCACCAGCTAAACATGCAGG TCCTGACAACAAAATCATTTTGATTGCATGCCATAAACTCTTTGATTAAG AGGATTGATTAAGATAATCTGGCCTTGCTGAGTGGTGGTGGTTTTACCTT GAGCTTTACCAGTTATTTTGTCAGGTAGCATTCCATTAAATTAGGATGCA TCATCTTTGAGACTGATGGATTTTTGATTCATTTTTCCGAGTTTTATTGA ATTTGGAATGACACCGAGATCCCAATAGCCTGTACAAAGTGAAGACAGTA GGTCAACAACAGAGCCATTCTTGATAATACAGAATATTTCACACCAGGCA CAGTGGCTCACACCTCTAATCCCAACATTTGGGAAGCCAAGGGAAGAGGA TTGCTTGAGGCCAGGAGTTCGAGAACAGCCTAGGCAACATAGTAAGACCC CATCTCTGAG
Gene structure information
H-Inv cluster ID
HIX0000455
Genomic location
Chromosome
1
Location
1p34.3
Position
39876695- 39882154
Strand
+
Possible duplicated location(s)
NA
Gene structure
1 exon(s)
Database links
RefSeq
NA
Ensembl
NA
Entrez Gene
Entrez Gene ID:643314
;
KEGG GENES
KEGG GENES(643314)
;
GeneCard
KIAA0754
;
*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
HIP000010006
Predicted CDS
3..3527; 1174[aa]; Orientation:+3;
Codon Adaptation Index (CAI).
0.749
FSSATWPRATKSLAKGGFSEKQHPLGDTACTVEMPPLSPCLSEELLDPEL HVLITPSLREKTESELKFEEDERWIMMEAEGEWEEEKLSDREKTFLMADE KNSLADIFEEREQANTAVVEDGSDCLAAVLRTFGHLSLGQICCPDDPQPA KDQLATVPKDIPLDCDCVLTGEDILGEVANRTAQGLEGLVSDSACTVGTI DAEQLSDTDSVQMFLELEKECLCEEGVTPLVELQNQISSEGLAASQDAEN LLVISHFSGAALEKEQHLGLLHVRAKDYDTRLDCGYFNTLDSSQVPNAVE LIAHVDIMRDTSTVSKEECEKVPFSPRTAEFKSRQPADLDSLEKLDPGGL LNSDHRVSHEEKLSGFIASELAKDNGSLSQGDCSQTEGNGEECIERVTFS FAFNHELTDVTSGPEVEVLYESNLLTDEIHLESGNVTVNQENNSLTSMGN VVTCELSVEKVCDEDGEAKELDYQATLLEDQAPAHFHRNFPEQVFQDLQR KSPESEILSLHLLVEELRLNPDGVETVNDTKPELNVASSEGGEMERRDSD SFLNIFPEKQVTKAGNTEPVLEEWIPVLQRPSRTAAVPTVKDALDAALPS PEEGTSIAAVPAPEGTAVVAALVPFPHEDILVASIVSLEEEDVTAAAVSA PERATVPAVTVSVPEGTAAVAAVSSPEETAPAVAAAITQEGMSAVAGFSP EWAALAITVPITEEDGTPEGPVTPATTVHAPEEPDTAAVRVSTPEEPASP AAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPPPEEPTSPAAAVPTPEEPT SPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPTPEE PTSPAAAVPTPEEPASPAAAVPTPEEPASPAAAVPTPEEPAFPAPAVPTP EESASAAVAVPTPEESASPAAAVPTPAESASFAAVVATLEEPTSPAASVP TPAAMVATLEEFTSPAASVPTSEEPASLAAAVSNPEEPTSPAAAVPTLEE PTSSAAAVLTPEELSSPAASVPTPEEPASPAAAVSNLEEPASPAAAVPTP EVAAIPAASVPTPEVPAIPAAAVPPMEEVSPIGVPFLGVSAHTDSVPISE EGTPVLEEASSTGMWIKEDLDSLVFGIKEVTSTVLHGKVPLAATAGLNSD EVIVHFDSGKGLKSKVRFAGLTWW*
Gene function information
H-Inv ID
HIT000000479
H-Inv cluster ID
HIX0000455
Accession number
AB018297.2
CAGE tag ID
NA
EST ID
NA
Transcript feature
NO;
Coding potential
Protein coding;
Definition
Similar to Uncharacterized protein KIAA0754;
Similarity category
Category: Similar to known protein(Category II).
Similar to known protein (
O94854
) [Identity/coverage = 100.0%/90.94%] to Homo sapiens (Human). protein.
Experimental evidence
NA
PubMed ID
9872452
;
12168954
;
14702039
;
16710414
;
17081983
;
19690332
;
20068231
;
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
KIAA0754
HGNC aliases
NA
HGNC name
KIAA0754
DDBJ
KIAA0754
UniProt
KIAA0754
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
HIP000010006
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:643314
;
KEGG GENES
KEGG GENES(643314)
;
GeneCard
KIAA0754
;
*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; mitochondria;
Target P
Not predicted
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.
Gene expression information
Last modified:27-May-2015
Tissue-specific expression
NA
Probe
information
AceGene
AGhsC050106;
Affymetrix
GeneChip
HG-Focus
NA
HG-U133
215268_at;
HG-U133A
215268_at;
HG-U133A_2
215268_at;
HG-U133B
NA
HG-U133_Plus_2
215268_at;
HG-U95
31909_at;
HG-U95A
31909_at;
HG-U95B
NA
HG-U95C
NA
HG-U95D
NA
HG-U95E
NA
HG-U95Av2
NA
HuEx-1_0
2331413; 2331414; 2331415; 2331416; 2331417; 2331418; 2407887;
HuGeneFL
NA
Agilent
Human 1A Oligo Microarray:PGID215
NA
Whole Human Genome Oligo Microarray:PGID247
A_24_P912372;
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
22 .. 22
C/T
rs141259269
+
CDS
Nonsynonymous[Pro7Leu]
233 .. 233
G/T
rs188406793
+
CDS
Nonsynonymous[Met77Ile]
240 .. 240
G/A
rs200887837
+
CDS
Nonsynonymous[Glu80Lys]
359 .. 359
G/A
rs150760218
+
CDS
Synonymous[Val119Val]
488 .. 488
C/T
rs192682381
+
CDS
Synonymous[Pro162Pro]
528 .. 528
G/A
rs184690499
+
CDS
Nonsynonymous[Gly176Ser]
698 .. 698
G/A
rs200415167
+
CDS
Synonymous[Glu232Glu]
761 .. 761
A/T
rs112059370
+
CDS
Synonymous[Val253Val]
768 .. 768
C/T
rs201874382
+
CDS
Nonsynonymous[His256Tyr]
801 .. 801
C/T
rs61073427
+
CDS
Nonsynonymous[His267Tyr]
820 .. 820
T/C
rs190023668
+
CDS
Nonsynonymous[Val273Ala]
880 .. 880
C/T
rs35152805
+
CDS
Nonsynonymous[Ser293Phe]
1089 .. 1089
T/C
rs143702095
+
CDS
Synonymous[Leu363Leu]
1135 .. 1135
T/C
rs113364091
+
CDS
Nonsynonymous[Leu378Ser]
1141 .. 1141
A/G
rs113273786
+
CDS
Nonsynonymous[Gln380Arg]
1321 .. 1321
A/G
rs147147341
+
CDS
Nonsynonymous[Gln440Arg]
1387 .. 1387
G/A
rs201734236
+
CDS
Nonsynonymous[Cys462Tyr]
1395 .. 1395
G/A
rs199527234
+
CDS
Nonsynonymous[Asp465Asn]
1460 .. 1460
C/T
rs181416924
+
CDS
Synonymous[Phe486Phe]
1474 .. 1474
C/T
rs202020434
+
CDS
Nonsynonymous[Pro491Leu]
1478 .. 1478
G/A
rs12141765
+
CDS
Synonymous[Glu492Glu]
1501 .. 1501
G/A
rs200761968
+
CDS
Nonsynonymous[Arg500Lys]
1599 .. 1599
G/T
rs184769240
+
CDS
AA-STOP[Glu533*]
1617 .. 1617
T/G
rs201767401
+
CDS
Nonsynonymous[Ser539Ala]
1719 .. 1719
G/A
rs140280687
+
CDS
Nonsynonymous[Glu573Lys]
1720 .. 1720
A/C
rs200556320
+
CDS
Nonsynonymous[Glu573Ala]
1731 .. 1731
G/A
rs201718916
+
CDS
Nonsynonymous[Val577Ile]
1749 .. 1749
C/T
rs144350483
+
CDS
Nonsynonymous[Arg583Trp]
1785 .. 1785
G/T
rs680528
+
CDS
Nonsynonymous[Asp595Tyr]
1791 .. 1791
G/A
rs201118698
+
CDS
Nonsynonymous[Ala597Thr]
1873 .. 1873
C/A/G
rs74066781
+
CDS
1905 .. 1905
A/G
rs199819105
+
CDS
Nonsynonymous[Ile635Val]
2047 .. 2047
C/G
rs145511340
+
CDS
Nonsynonymous[Ala682Gly]
2091 .. 2091
G/A
rs201860546
+
CDS
Nonsynonymous[Gly697Arg]
2121 .. 2121
A/G
rs1746842
+
CDS
Nonsynonymous[Ile707Val]
2199 .. 2199
G/A
rs72928320
+
CDS
Nonsynonymous[Glu733Lys]
2244 .. 2244
G/A
rs201946343
+
CDS
Nonsynonymous[Ala748Thr]
2283 .. 2283
A/G
rs783821
+
CDS
Nonsynonymous[Thr761Ala]
2346 .. 2346
C/A
rs710914
-
CDS
Nonsynonymous[Pro782Thr]
2400 .. 2400
A/G
rs12726050
+
CDS
Nonsynonymous[Thr800Ala]
2421 .. 2421
C/T
rs12744643
+
CDS
Nonsynonymous[Pro807Ser]
2490 .. 2490
G/C
rs12743694
+
CDS
Nonsynonymous[Ala830Pro]
2523 .. 2523
C/G
rs12744796
+
CDS
Nonsynonymous[Pro841Ala]
2530 .. 2530
C/T
rs12744800
+
CDS
Nonsynonymous[Ala843Val]
2546 .. 2546
A/C
rs12726231
+
CDS
Synonymous[Pro848Pro]
2556 .. 2556
A/G
rs783822
+
CDS
Nonsynonymous[Thr852Ala]
2623 .. 2623
C/T
rs12744961
+
CDS
Nonsynonymous[Pro874Leu]
2624 .. 2624
A/G
rs12726381
+
CDS
Synonymous[Pro874Pro]
2630 .. 2630
G/A
rs12743880
+
CDS
Synonymous[Glu876Glu]
2634 .. 2634
G/A
rs200402688
+
CDS
Nonsynonymous[Ala878Thr]
2646 .. 2646
G/C
rs141110458
+
CDS
Nonsynonymous[Ala882Pro]
2672 .. 2672
T/C
rs604316
+
CDS
Synonymous[Pro890Pro]
2677 .. 2677
T/C
rs2797379
+
CDS
Nonsynonymous[Phe892Ser]
2685 .. 2685
C/G
rs34074681
+
CDS
Nonsynonymous[Pro895Ala]
2718 .. 2718
G/C
rs55976345
+
CDS
Nonsynonymous[Ala906Pro]
2725 .. 2725
T/C
rs201613510
+
CDS
Nonsynonymous[Val908Ala]
2741 .. 2741
C/A
rs112569629
+
CDS
Synonymous[Pro913Pro]
2823 .. 2823
G/A
rs587523
+
CDS
Nonsynonymous[Glu941Lys]
2896 .. 2896
C/T
rs140506518
+
CDS
Nonsynonymous[Pro965Leu]
3074 .. 3074
C/A
rs180964189
+
CDS
Synonymous[Pro1024Pro]
3159 .. 3159
G/C
rs201381740
+
CDS
Nonsynonymous[Ala1053Pro]
3167 ^ 3168
-/C
rs34754112
+
CDS
3206 .. 3206
C/G
rs72928322
+
CDS
Nonsynonymous[Ile1068Met]
3211 .. 3211
C/T
rs200814881
+
CDS
Nonsynonymous[Ala1070Val]
3284 .. 3284
C/T
rs138223166
+
CDS
Synonymous[Asp1094Asp]
3319 .. 3319
T/C
rs74066782
+
CDS
Nonsynonymous[Leu1106Pro]
3325 .. 3325
A/C
rs78342613
+
CDS
Nonsynonymous[Glu1108Ala]
3409 .. 3409
A/T
rs185907284
+
CDS
Nonsynonymous[His1136Leu]
3573 .. 3573
G/A
rs56278340
+
3'UTR
3580 .. 3580
A/G
rs783823
+
3'UTR
3585 .. 3585
G/C
rs190039579
+
3'UTR
3625 .. 3625
T/G
rs3768302
+
3'UTR
3661 .. 3661
G/A
rs181292979
+
3'UTR
3735 .. 3735
T/C
rs143562502
+
3'UTR
3987 .. 3987
G/A
rs118058542
+
3'UTR
4032 .. 4032
A/C
rs186353098
+
3'UTR
4071 .. 4071
G/A
rs783824
-
3'UTR
4096 .. 4096
A/C
rs190708706
+
3'UTR
4124 .. 4124
G/A
rs11206031
+
3'UTR
4198 .. 4198
C/A
rs77157953
+
3'UTR
4318 .. 4318
T/A
rs72928324
+
3'UTR
4346 .. 4346
G/C
rs1180375
+
3'UTR
4376 .. 4376
C/T
rs143765499
+
3'UTR
4471 .. 4471
G/A
rs61636308
+
3'UTR
4534 .. 4534
T/C
rs182937351
+
3'UTR
4638 .. 4638
C/T
rs72661973
+
3'UTR
4639 .. 4639
G/A
rs201393675
-
3'UTR
4774 .. 4774
T/A
rs17343193
+
3'UTR
4806 .. 4806
G/A
rs111406271
+
3'UTR
4830 .. 4830
C/T
rs113212425
+
3'UTR
5047 .. 5047
C/A
rs138694483
+
3'UTR
5307 .. 5307
C/G
rs653064
+
3'UTR
5391 .. 5391
G/A
rs79296035
+
3'UTR
5433 .. 5433
G/A
rs12759845
+
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
MIRb
3835
3989
+
MIR3
4174
4303
+
AluY
4304
4638
-
MIR3
4639
4652
+
L2a
4844
4925
+
AluJr
5344
5457
+
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;