H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
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Definition*
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---
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H-Invitational ID:
HIT000051821
Accession number:
BC036809
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Similar to Rho guanine nucleotide exchange factor 10;
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
BC036809.1
CAGE tag ID
NA
EST ID
NA
Clone Number
IMAGE:5737598
Experimental resources
NBRC
;
HGPD
;
Sequence data provider
Provider:
MGC/NCI
;
Annotation project
H-Invitational FLcDNA
Length of cDNA
3483[bp] (No. of exon:15)[A:970 T:865 G:833 C:815]
Devision
HUM
Molecular type
mRNA
Library origin
Cell type
NA
Tissue type
Duodenum, adenocarcinoma
Develpmental stage
NA
Sequence quality information
CDS feature
Complete CDS
Kozak sequence
NA
PolyA
Site: 3469(+)
Vector/adapter sequence
NA
Frame shift
NA
Remaining intron
NA
Splice site acceptor (NAGNAG)
CAGAAG; CAGCAG;
Transcript quality feature
NA
Notes
NA
CCACGCGTCCGGAAAATTTAAAAATCCGTGTGTATTTTCTTGCTAGTGCT GGTACTTGAATATCTGTATCATCCACCTATCCATCCACCTACCCATATTT CTATAATCCACCGTCCATCGACATGCCTGTCATCTGTCCACCATTTCTCT CTGTCTAATTTTCAAAACATCCTGTAAGTTTATATAAAGGAAGATTTTTC TTCTTGTGAAGTTCTCTAAGGCTGACAAGTTACCTGGCATGACTGTGGCG GATGCCCATAGCCAGGTGGTCCTCGGGGTACAGATGGGGCAGGGGCACTT GTGAGAAACACCTGAAGTGCTTTTCCCCAGCCTCCCCGGCCCTGCCCGGG TGGTGGAGGCGCTGCACGGTGCCTTCCATGGAGCAAGCCCGGGGCTCCGC AGGGTCCTCAGCATGATTCAGATTTCCTTCCACCCCCAGCTCTAGATGAT TTGGTAAAACCACAAACAGGCACAAAACAGCCCACATGGAATTCTAAAGT TTTAATTTCATTTTGGAATTTATGCACTCAGATGAAATGATTTATGATGA TGTTGAGAATGGGGATGAAGGTGGAAACAGCTCCTTGGAATACGGATGGA GTTCGAGTGAATTTGAAAGTTACGAAGAGCAGAGTGACTCGGAGTGCAAG AATGGGATTCCCAGGTCCTTCCTGCGCAGCAACCACAAAAAGCAAATGCA GAAGCTCGTGAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGA CCAGGGCAGCCGTGAAGAGGGGCCGCTCCTTCATCAGGACCAAGTCTCTC ATCGCACAGGATCACAGATCTTCTCTTGAGGAAGAACAGAATTTGTTCAT TGATGTTGACTGCAAGCACCCGGAAGCCATCTTGACCCCGATGCCCGAGG GTTTATCTCAGCAGCAGGTTGTAAGAAGATATATACTGGGTTCAGTTGTC GACAGTGAAAAGAACTACGTAGATGCTCTTAAGAGGATTTTGGAGCAATA TGAGAAGCCGCTGTCTGAGATGGAGCCAAAGGTTCTGAGTGAGAGGAAGC TGAAGACGGTGTTCTACCGAGTCAAAGAGATCCTGCAGTGCCACTCGCTA TTTCAGATCGCGCTGGCCAGCCGCGTTTCCGAGTGGGACTCCGTGGAAAT GATAGGCGATGTCTTCGTGGCTTCGTTTTCTAAGTCCATGGTGCTGGATG CATACAGTGAATATGTGAACAATTTCAGCACAGCCGTGGCAGTCCTCAAG AAAACATGTGCCACAAAGCCCGCTTTTCTTGAATTTTTAAAGCAGGAACA GGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCA TCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGACATGCTGAAGAAC ACCTCCAAAGGCCACCCCGACAGGCTGCCTCTTCAGATGGCCCTGACAGA GCTCGAAACACTAGCAGAGAAGTTAAATGAAAGAAAGAGAGATGCTGATC AACGCTGTGAAGTGAAGCAAATAGCCAAAGCCATAAACGAAAGATACCTG AACAAGCTTCTCAGCAGTGGAAGCCGATACCTCATTCGATCAGATGATAT GATAGAAACAGTTTACAACGACAGAGGAGAGATTGTTAAAACCAAAGAAC GCCGAGTCTTCATGTTAAATGATGTGTTAATGTGTGCCACCGTCAGCTCA CGCCCCTCTCATGACAGCCGTGTGATGAGCAGCCAGAGGTACTTGCTGAA GTGGAGCGTTCCACTGGGACATGTGGACGCCATCGAGTATGGCAGCAGCG CAGGCACGGGCGAGCACAGCAGGCACCTTGCCGTTCACCCGCCGGAGAGC CTGGCCGTGGTTGCTAACGCGAAACCAAACAAAGTTTACATGGGGCCAGG ACAACTGTATCAAGATTTACAAAACTTGTTGCATGACTTAAATGTAATTG GCCAAATCACTCAGCTGATAGGAAACCTTAAAGGAAACTATCAGAACTTA AACCAGTCAGTAGCCCATGACTGGACATCAGGTTTACAAAGGCTTATTTT GAAGAAAGAAGATGAAATCAGAGCTGCGGACTGCTGCAGAATTCAGTTAC AGCTTCCCGGGAAGCAGGACAAATCTGGGCGACCGACGTTCTTTACAGCT GTGTTCAATACGTTCACCCCTGCCATCAAGGAGTCCTGGGTCAACAGCTT ACAGATGGCCAAGCTCGCCCTAGAGGAGAACCACATGGGCTGGTTCTGTG TGGAAGACGATGGGAATCACATTAAAAAGGAGAAGCATCCTCTCCTCGTC GGACACATGCCCGTGATGGTGGCCAAGCAGCAGGAGTTCAAGATTGAATG TGCTGCTTATAACCCTGAACCTTACCTAAATAATGAAAGCCAGCCAGATT CATTTTCCACGGCACATGGTTTCCTGTGGGTAAGATGTGTTTATTTGGTT TTGGTACAAGTTCACAGAGAATCAACGTTCATGGTCGGTGTGATGAGAGA CTGAGATGTGAATTGCTCAGTAGAGAGTTGGCGGTGGCGTATCCCAGAGT GTACTTAGAAACATGAAAACTTCTTTGAAAGGGAGCTGATCACTTTTGGA AAAGATTTACAGTTCTTAGGAATGCAAATATTTGTTTCTTTTCCTTTTCA TCTAAAACATTTACCAGATAAAGTTGAGTCCAGAGACAACTAACTAATAA GAGAATAATTTTAATATGTTTTTCCATTTTGGTGTCAACATTGCATGGAT TTTTTTTCTTGTTCCAAGACTGGCTTTTTCCAGTGGAAACTTAGCAGTTA AAATTAATTTGTTCCAAATGAAATATTGCATCTGAAATTAGGCTGGAATT GCAGTAGACGTTCCTGGTTCTTGCAAACCAGAGGACATTCTTGAAGCTGT GTGGTCCCAGGCTCTCCCCTCTCTGGTTTCCTGTGTTCCCTCCCTGCAGC CTCAGACTCGCCCTCCAGGGCTCCACTGTGCTTTTCCAAACTCTCATCCT TTCCTCCCAGGCGTCCTGTGCAGCACGCCACTGCCTCTCACTTCTCACAT CCACAGCTCCTGCTTGGTCAGTGTTCCTAGTTGAGTGTCAGAAATTGAAC AACCCAATTAGCTGGTATTTCATTTGTACCAACCTATGAATGGAGGAGTA GCCTTAATTCCCTTGGGGGCTTCCACTTCTAAGAGAACTGTTTTCCGTCC AGGTAGGCAGACCTGTCATGGCTGAAGCTTCATCACCTGGCCTGGTCATA GCCCCCAGGCCCTGTAGGCAGGACAGGGGCTTGGCAGATTGGCATCCTTC CCACAAAAGCATGAAAGTAGGATGTCTGTATGTAGCGACAACAAATACAA GAATAAGGAGAGTTTAACAACATTCTCAAAGTTGGTGGAAAAGAAAAAGA ATCAATGAAAACATCACCCTAAACCAGCTAGTGCTTTCTGTTTACAGGGA TCAGACCCCTTCCCACTTAAAAAAAAAAAAAAA
Gene structure information
H-Inv cluster ID
HIX0021591
Genomic location
Chromosome
8
Location
8p23.3
Position
1824217- 1875669
Strand
+
Possible duplicated location(s)
NA
Gene structure
15 exon(s)
Database links
RefSeq
NA
Ensembl
NA
Entrez Gene
Entrez Gene ID:9639
;
KEGG GENES
KEGG GENES(9639)
;
GeneCard
NA
*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
HIP000063267
Predicted CDS
522..2504; 660[aa]; Orientation:+3;
Codon Adaptation Index (CAI).
0.748
MHSDEMIYDDVENGDEGGNSSLEYGWSSSEFESYEEQSDSECKNGIPRSF LRSNHKKQMQKLVKAAKDGTKDGLERTRAAVKRGRSFIRTKSLIAQDHRS SLEEEQNLFIDVDCKHPEAILTPMPEGLSQQQVVRRYILGSVVDSEKNYV DALKRILEQYEKPLSEMEPKVLSERKLKTVFYRVKEILQCHSLFQIALAS RVSEWDSVEMIGDVFVASFSKSMVLDAYSEYVNNFSTAVAVLKKTCATKP AFLEFLKQEQEASPDRTTLYSLMMKPIQRFPQFILLLQDMLKNTSKGHPD RLPLQMALTELETLAEKLNERKRDADQRCEVKQIAKAINERYLNKLLSSG SRYLIRSDDMIETVYNDRGEIVKTKERRVFMLNDVLMCATVSSRPSHDSR VMSSQRYLLKWSVPLGHVDAIEYGSSAGTGEHSRHLAVHPPESLAVVANA KPNKVYMGPGQLYQDLQNLLHDLNVIGQITQLIGNLKGNYQNLNQSVAHD WTSGLQRLILKKEDEIRAADCCRIQLQLPGKQDKSGRPTFFTAVFNTFTP AIKESWVNSLQMAKLALEENHMGWFCVEDDGNHIKKEKHPLLVGHMPVMV AKQQEFKIECAAYNPEPYLNNESQPDSFSTAHGFLWVRCVYLVLVQVHRE STFMVGVMRD*
Motif information
a.a.
length
InterPro
Name
218
IPR000219
Dbl homology (DH) domain [Domain]
216
IPR000219
Dbl homology (DH) domain [Domain]
188
IPR000219
Dbl homology (DH) domain [Domain]
183
IPR000219
Dbl homology (DH) domain [Domain]
179
IPR000219
Dbl homology (DH) domain [Domain]
Gene function information
H-Inv ID
HIT000051821
H-Inv cluster ID
HIX0021591
Accession number
BC036809.1
CAGE tag ID
NA
EST ID
NA
Transcript feature
NO;
Splicing isoform
Coding potential
Protein coding;
Definition
Similar to Rho guanine nucleotide exchange factor 10;
Similarity category
Category: Similar to known protein(Category II).
Similar to known protein (
O15013
) [Identity/coverage = 99.685%/49.23%] to Homo sapiens (Human). protein.
Experimental evidence
Protein evidence
PubMed ID
9205841
;
9314494
;
12168954
;
14508709
;
15489334
;
16421571
;
17974005
;
18669648
;
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
NA
HGNC aliases
NA
HGNC name
NA
DDBJ
ARHGEF10
UniProt
ARHGEF10
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
HIP000063267
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:9639
;
KEGG GENES
KEGG GENES(9639)
;
GeneCard
NA
*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
Rho guanyl-nucleotide exchange factor activity (
GO:0005089
);
Biological process
regulation of Rho protein signal transduction (
GO:0035023
);
Subcellular localization information
Last modified:27-May-2015
WoLF PSORT
nuclear; cytosol; golgi apparatus;
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
126
334
1ki1B1
1e-35
27.0
204/210
a.87.1.1
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
NA
HG-U133A
NA
HG-U133A_2
NA
HG-U133B
NA
HG-U133_Plus_2
1554213_at;
HG-U95
NA
HG-U95A
NA
HG-U95B
NA
HG-U95C
NA
HG-U95D
NA
HG-U95E
NA
HG-U95Av2
NA
HuEx-1_0
3082898; 3082899; 3082901; 3082902; 3082903; 3082904; 3082908; 3082909; 3082910; 3082917; 3082919; 3082926; 3082927; 3082928; 3082929; 3082930; 3082932; 3082933; 3082934;
HuGeneFL
NA
Agilent
Human 1A Oligo Microarray:PGID215
NA
Whole Human Genome Oligo Microarray:PGID247
A_24_P188085;
Related H-InvDB links
H-ANGEL
;
DNAProbeLocator
;
Disease/pathology information
Last modified:27-May-2015
Disease relation
Disease name: Slowed nerve conduction velocity, AD (
608236
);
Related information in OMIM
OMIM ID:
608136
; Title: RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 10
Co-localized orphan diseases
NA
Disease related mutation
MutationView:
608136
;
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:(9639)
Disease
Entrez Gene ID:(9639)
Substance
Entrez Gene ID:(9639)
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
78 .. 78
T/C
rs183914342
+
5'UTR
79 .. 79
A/G
rs187555288
+
5'UTR
117 .. 117
A/C
rs3735873
+
5'UTR
120 .. 120
G/T
rs3735874
+
5'UTR
123 .. 123
A/G
rs79843734
+
5'UTR
129 .. 129
G/A
rs11987969
+
5'UTR
203 .. 203
C/T
rs191379100
+
5'UTR
208 .. 208
G/A
rs3735875
+
5'UTR
236 .. 236
G/C
rs35171866
+
5'UTR
241 .. 241
G/C
rs76590232
+
5'UTR
249 .. 249
C/T
rs17829719
+
5'UTR
274 .. 274
C/T
rs183513519
+
5'UTR
324 .. 324
T/G
rs186612422
+
5'UTR
327 .. 327
C/G
rs112690734
+
5'UTR
348 .. 348
G/C
rs56034634
+
5'UTR
360 .. 360
C/T
rs200607813
+
5'UTR
378 .. 378
A/G
rs184878049
+
5'UTR
384 .. 384
C/G
rs57180537
+
5'UTR
391 .. 391
G/C
rs4875944
-
5'UTR
444 .. 444
A/G
rs190152353
+
5'UTR
587 .. 587
G/C
rs148131631
+
CDS
Nonsynonymous[Leu22Phe]
601 .. 601
G/T
rs201446751
+
CDS
Nonsynonymous[Ser27Ile]
604 .. 604
C/T
rs144004435
+
CDS
Nonsynonymous[Ser28Leu]
623 .. 623
C/A
rs200052082
+
CDS
AA-STOP[Tyr34*]
641 .. 641
G/C
rs144663694
+
CDS
Synonymous[Ser40Ser]
676 .. 676
G/A
rs145821459
+
CDS
Nonsynonymous[Arg52His]
680 .. 680
C/A/T
rs138769512
+
CDS
697 .. 697
T/G
rs199514264
+
CDS
Nonsynonymous[Met59Arg]
703 .. 703
A/G
rs113524632
+
CDS
Nonsynonymous[Lys61Arg]
708 .. 708
G/A
rs139046783
+
CDS
Nonsynonymous[Val63Met]
730 .. 730
C/T
rs28940281
+
CDS
Nonsynonymous[Thr70Ile]
749 .. 749
G/A
rs186467970
+
CDS
Synonymous[Arg76Arg]
761 .. 761
C/T
rs200618658
+
CDS
Synonymous[Ala80Ala]
775 .. 775
G/A
rs149632587
+
CDS
Nonsynonymous[Arg85His]
798 .. 798
C/G
rs200109049
+
CDS
Nonsynonymous[Leu93Val]
827 .. 827
T/A
rs201125797
+
CDS
Synonymous[Leu102Leu]
845 .. 845
G/C
rs9657362
+
CDS
Nonsynonymous[Leu108Phe]
848 .. 848
C/T
rs34655804
+
CDS
Synonymous[Phe109Phe]
875 .. 875
A/G
rs147931758
+
CDS
Synonymous[Glu118Glu]
889 .. 889
C/T
rs139937386
+
CDS
Nonsynonymous[Pro123Leu]
891 .. 891
A/T
rs201660201
+
CDS
Nonsynonymous[Met124Leu]
914 .. 914
G/C
rs142879329
+
CDS
Nonsynonymous[Gln131His]
941 .. 941
T/C
rs118161222
+
CDS
Synonymous[Gly140Gly]
998 .. 998
A/G
rs200412472
+
CDS
Synonymous[Gln159Gln]
1010 .. 1010
G/A
rs140952059
+
CDS
Synonymous[Pro163Pro]
1050 .. 1050
C/G
rs150372520
+
CDS
Nonsynonymous[Leu177Val]
1057 .. 1057
C/T
rs146529284
+
CDS
Nonsynonymous[Thr179Met]
1066 .. 1066
A/G
rs141003957
+
CDS
Nonsynonymous[Tyr182Cys]
1111 .. 1111
C/T
rs144726787
+
CDS
Nonsynonymous[Ala197Val]
1112 .. 1112
G/A
rs138680466
+
CDS
Synonymous[Ala197Ala]
1125 .. 1125
G/A
rs148840693
+
CDS
Nonsynonymous[Val202Ile]
1128 .. 1128
T/A
rs199763780
+
CDS
Nonsynonymous[Ser203Thr]
1131 .. 1131
G/A
rs143508005
+
CDS
Nonsynonymous[Glu204Lys]
1142 .. 1142
C/A
rs147974725
+
CDS
Synonymous[Ser207Ser]
1143 .. 1143
G/A
rs201694611
+
CDS
Nonsynonymous[Val208Met]
1166 .. 1166
C/T
rs3758004
+
CDS
Synonymous[Phe215Phe]
1174 .. 1174
C/T
rs201240439
+
CDS
Nonsynonymous[Ser218Leu]
1263 .. 1263
A/G
rs201912073
+
CDS
Nonsynonymous[Thr248Ala]
1271 .. 1271
C/T
rs141646890
+
CDS
Synonymous[Pro250Pro]
1285 .. 1285
T/G
rs150692591
+
CDS
Nonsynonymous[Phe255Cys]
1289 .. 1289
A/T
rs139300291
+
CDS
Nonsynonymous[Leu256Phe]
1318 .. 1318
G/A
rs143325951
+
CDS
Nonsynonymous[Arg266Gln]
1325 .. 1325
G/T
rs118048417
+
CDS
Synonymous[Thr268Thr]
1326 .. 1326
C/A
rs140110093
+
CDS
Nonsynonymous[Leu269Ile]
1343 .. 1343
G/T
rs150004545
+
CDS
Nonsynonymous[Met274Ile]
1358 .. 1358
G/C
rs144304948
+
CDS
Nonsynonymous[Arg279Ser]
1366 .. 1366
A/T
rs148715187
+
CDS
Nonsynonymous[Gln282Leu]
1382 .. 1382
C/T
rs12681485
+
CDS
Synonymous[Leu287Leu]
1386 .. 1386
G/A
rs201067899
+
CDS
Nonsynonymous[Asp289Asn]
1454 .. 1454
C/T
rs200136507
+
CDS
Synonymous[Leu311Leu]
1471 .. 1471
A/G
rs146787564
+
CDS
Nonsynonymous[Lys317Arg]
1489 .. 1489
G/A
rs1045489
+
CDS
Nonsynonymous[Arg323Lys]
1497 .. 1497
G/C
rs201726860
+
CDS
Nonsynonymous[Asp326His]
1503 .. 1503
C/T
rs141069028
+
CDS
Nonsynonymous[Arg328Cys]
1516 .. 1516
A/G
rs143500957
+
CDS
Nonsynonymous[Lys332Arg]
1518 .. 1518
C/A
rs79970226
+
CDS
Nonsynonymous[Gln333Lys]
1583 .. 1583
C/T
rs146717173
+
CDS
Synonymous[Leu354Leu]
1584 .. 1584
A/G
rs201123598
+
CDS
Nonsynonymous[Ile355Val]
1602 .. 1602
A/G
rs144835192
+
CDS
Nonsynonymous[Ile361Val]
1605 .. 1605
G/C
rs150319135
+
CDS
Nonsynonymous[Glu362Gln]
1633 .. 1633
T/C
rs201110471
+
CDS
Nonsynonymous[Ile371Thr]
1641 .. 1641
A/T
rs202029161
+
CDS
Nonsynonymous[Thr374Ser]
1653 .. 1653
C/T
rs138007359
+
CDS
AA-STOP[Arg378*]
1691 .. 1691
C/T
rs200487137
+
CDS
Synonymous[Thr390Thr]
1702 .. 1702
G/A
rs184791801
+
CDS
Nonsynonymous[Arg394His]
1719 .. 1719
C/T
rs149060376
+
CDS
Nonsynonymous[Arg400Cys]
1726 .. 1726
T/C
rs34319003
+
CDS
Nonsynonymous[Met402Thr]
1790 .. 1790
T/C
rs2294038
+
CDS
Synonymous[Tyr423Tyr]
1798 .. 1798
G/A
rs143290224
+
CDS
Nonsynonymous[Ser426Asn]
1800 .. 1800
G/A
rs199578912
+
CDS
Nonsynonymous[Ala427Thr]
1807 .. 1807
C/T
rs147544189
+
CDS
Nonsynonymous[Thr429Met]
1808 .. 1808
G/A
rs148136629
+
CDS
Synonymous[Thr429Thr]
1820 .. 1820
C/A
rs201919004
+
CDS
Nonsynonymous[Ser433Arg]
1827 .. 1827
C/G
rs141968995
+
CDS
Nonsynonymous[Leu436Val]
1832 .. 1832
C/T
rs150639767
+
CDS
Synonymous[Ala437Ala]
1833 .. 1833
G/A
rs2294039
+
CDS
Nonsynonymous[Val438Ile]
1838 .. 1838
C/T
rs2294040
+
CDS
Synonymous[His439His]
1870 .. 1870
C/T
rs201394769
+
CDS
Nonsynonymous[Ala450Val]
1871 .. 1871
G/A
rs61731549
+
CDS
Synonymous[Ala450Ala]
1920 .. 1920
C/G
rs200619686
+
CDS
Nonsynonymous[Gln467Glu]
1931 .. 1931
G/T
rs146291427
+
CDS
Nonsynonymous[Leu470Phe]
1932 .. 1932
C/T
rs147531758
+
CDS
Nonsynonymous[His471Tyr]
2077 .. 2077
C/T
rs143459815
+
CDS
Nonsynonymous[Ala519Val]
2109 .. 2109
G/A
rs146766107
+
CDS
Nonsynonymous[Gly530Arg]
2120 .. 2120
C/T
rs34036746
+
CDS
Synonymous[Asp533Asp]
2175 .. 2175
A/G
rs201667595
+
CDS
Nonsynonymous[Ile552Val]
2191 .. 2191
T/C
rs200515878
+
CDS
Nonsynonymous[Val557Ala]
2195 .. 2195
C/G
rs61758704
+
CDS
Nonsynonymous[Asn558Lys]
2216 .. 2216
C/T
rs142592407
+
CDS
Synonymous[Leu565Leu]
2222 .. 2222
A/C
rs199621523
+
CDS
Synonymous[Leu567Leu]
2225 .. 2225
G/A
rs150986504
+
CDS
Synonymous[Glu568Glu]
2233 .. 2233
A/G
rs142973221
+
CDS
Nonsynonymous[His571Arg]
2254 .. 2254
A/G
rs145893322
+
CDS
Nonsynonymous[Glu578Gly]
2312 .. 2312
C/T
rs2272613
-
CDS
Synonymous[Pro597Pro]
2315 .. 2315
G/C
rs141164534
+
CDS
Synonymous[Val598Val]
2371 .. 2371
C/G
rs147112298
+
CDS
Nonsynonymous[Pro617Arg]
2376 .. 2376
C/T
rs138353580
+
CDS
Synonymous[Leu619Leu]
2381 .. 2381
T/C
rs199777041
+
CDS
Synonymous[Asn620Asn]
2448 .. 2448
G/A
rs115781544
+
CDS
Nonsynonymous[Val643Ile]
2517 .. 2517
T/C
rs181103497
+
3'UTR
2532 .. 2532
C/T
rs17064390
+
3'UTR
2540 .. 2540
T/G
rs184490197
+
3'UTR
2554 .. 2554
C/G
rs73671056
+
3'UTR
2615 .. 2615
C/T
rs188890555
+
3'UTR
2727 .. 2727
T/C
rs144488328
+
3'UTR
2794 .. 2794
G/C
rs9657380
+
3'UTR
2802 .. 2802
A/C
rs139230664
+
3'UTR
2851 .. 2851
G/A
rs144054098
+
3'UTR
2859 .. 2859
C/T
rs146410452
+
3'UTR
2884 .. 2884
G/C
rs182160588
+
3'UTR
2896 .. 2896
G/T
rs187199488
+
3'UTR
2916 .. 2916
C/T
rs140804499
+
3'UTR
3027 .. 3027
G/A
rs190862665
+
3'UTR
3038 .. 3038
T/C
rs142218384
+
3'UTR
3103 .. 3103
C/T
rs180729591
+
3'UTR
3108 .. 3108
T/G
rs185257513
+
3'UTR
3136 .. 3136
A/G
rs151232346
+
3'UTR
3189 .. 3189
T/A
rs140278070
+
3'UTR
3205 .. 3205
A/G
rs17064392
+
3'UTR
3222 .. 3222
C/G
rs190360924
+
3'UTR
3256 .. 3256
C/T
rs79724830
+
3'UTR
3431 .. 3431
G/A
rs150356878
+
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
;