H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Inv protein ID: HIP000025199 Last modified: 27-May-2015
Definition: U5 small nuclear ribonucleoprotein 200 kDa helicase; EC=3.6.4.13; Activating signal cointegrator 1 complex subunit 3-like 1; BRR2 homolog; U5 snRNP-specific 200 kDa protein; U5-200KD;
[Summery][Full]
[Protein Info][Member][Motif] 
provide location, ID and descriptions of functional motifs (InterPro)[Function] 
provide human-curated functional definition, similarity
category and related evidences;  Gene name; 
HUGO gene symbols; GO term; EC number; pathway information (KEGG)[PTM][Subcellular loc.] 
provide subcellular localization prediction by WolfPSORT, Target P, SOSUI, TMHMM and PTS1[Protein Structure][Evolutionary info.] 
provide orthologs relationships, phylogenic trees and sequence alignments[Polymorphism/repeat] 
provide polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Protein information
HIP ID HIP000025199
Length 2136
Codon Adaptation Index (CAI). 0.801
Database links RefSeq NA
UniProt NA
CCDS NA
Original transcript information
Representative H-Inv transcript ID Transcript view HIT000255549
H-Inv cluster ID Locus view HIX0002273
Predicted CDS 79..6489 ; 2136[aa] ; Orientation:+1 ;
Genomic location Chromosome 2
Location 2q11.2
CDS position 96940470-96971253
Strand -
Accession number AY572488.1
CAGE tag ID NA
EST ID NA
Clone Number NA
Experimental resources NBRC: NITE Biological Resource Center NBRC     Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (SNRNP200) ;   Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (SNRNP200) ;
Length of cDNA 6769[bp] (No. of exon:45)[A:1703 T:1516 G:1834 C:1716] ;
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:23020 ;
KEGG GENES KEGG GENES(23020) ;
GeneCard GeneCard SNRNP200 ;
etc H-GOLD Human-Gene diversity Of Life-style related Diseases ;
Protein view


Coresponding transcript member (s)
No.1
H-Inv IDTranscript view HIT000255549
H-Inv cluster IDLocus view HIX0002273
Accession numberAY572488.1
CAGE tag IDNA
EST IDNA
Coding potential Help Protein coding
DefinitionU5 small nuclear ribonucleoprotein 200 kDa helicase; EC=3.6.4.13; Activating signal cointegrator 1 complex subunit 3-like 1; BRR2 homolog; U5 snRNP-specific 200 kDa protein; U5-200KD;
Similarity category HelpIdentical to known human protein(Category I).
Identical to known human protein (O75643) [Identity/coverage = 99.953%/100.0%] to Homo sapiens (Human). protein.
Transcript feature Help Representative H-Inv IDRepresentative transcript; Splicing isoformSplicing isoform;
Genomic Location G-integra Help Chromosome2
Location2q11.2
CDS position96940470-96971253
Strand-
Gene structure45 exons

Motif information in predicted CDS
ORF

length(2137),orf(79:6489)
MADVTARSLQYEYKANSNLVLQADRSLIDRTRRDEPTGEVLSLVGKLEGT
RMGDKAQRTKPQMQEERRAKRRKRDEDRHDINKMKGYTLLSEGIDEMVGI
IYKPKTKETRETYEVLLSFIQAALGDQPRDILCGAADEVLAVLKNEKLRD
KERRKEIDLLLGQTDDTRYHVLVNLGKKITDYGGDKEIQNMDDNIDETYG
VNVQFESDEEEGDEDVYGEVREEASDDDMEGDEAVVRCTLSANLVASGEL
MSSKKKDLHPRDIDAFWLQRQLSRFYDDAIVSQKKADEVLEILKTASDDR
ECENQLVLLLGFNTFDFIKVLRQHRMMILYCTLLASAQSEAEKERIMGKM
EADPELSKFLYQLHETEKEDLIREERSRRERVRQSRMDTDLETMDLDQGG
EALAPRQVLDLEDLVFTQGSHFMANKRCQLPDGSFRRQRKGYEEVHVPAL
KPKPFGSEEQLLPVEKLPKYAQAGFEGFKTLNRIQSKLYRAALETDENLL
LCAPTGAGKTNVALMCMLREIGKHINMDGTINVDDFKIIYIAPMRSLVQE
MVGSFGKRLATYGITVAELTGDHQLCKEEISATQIIVCTPEKWDIITRKG
GERTYTQLVRLIILDEIHLLHDDRGPVLEALVARAIRNIEMTQEDVRLIG
LSATLPNYEDVATFLRVDPAKGLFYFDNSFRPVPLEQTYVGITEKKAIKR
FQIMNEIVYEKIMEHAGKNQVLVFVHSRKETGKTARAIRDMCLEKDTLGL
FLREGSASTEVLRTEAEQCKNLELKDLLPYGFAIHHAGMTRVDRTLVEDL
FADKHIQVLVSTATLAWGVNLPAHTVIIKGTQVYSPEKGRWTELGALDIL
QMLGRAGRPQYDTKGEGILITSHGELQYYLSLLNQQLPIESQMVSKLPDM
LNAEIVLGNVQNAKDAVNWLGYAYLYIRMLRSPTLYGISHDDLKGDPLLD
QRRLDLVHTAALMLDKNNLVKYDKKTGNFQVTELGRIASHYYITNDTVQT
YNQLLKPTLSEIELFRVFSLSSEFKNITVREEEKLELQKLLERVPIPVKE
SIEEPSAKINVLLQAFISQLKLEGFALMADMVYVTQLAGRLMRAIFEIVL
NRGWAQLTDKTLNLCKMIDKRMWQSMCPLRQFRKLPEEVVKKIEKKNFPF
ERLYDLNHNEIGELIRMPKMGKTIHKYVHLFPKLELSVHLQPITRSTLKV
ELTITPDFQWDEKVHGSSEAFWILVEDVDSEVILHHEYFLLKAKYAQDEH
LITFFVPVFEPLPPQYFIRVVSDRWLSCETQLPVSFRHLILPEKYPPPTE
LLDLQPLPVSALRNSAFESLYQDKFPFFNPIQTQVFNTVYNSDDNVFVGA
PTGSGKTICAEFAILRMLLQSSEGRCVYITPMEALAEQVYMDWYEKFQDR
LNKKVVLLTGETSTDLKLLGKGNIIISTPEKWDILSRRWKQRKNVQNINL
FVVDEVHLIGGENGPVLEVICSRMRYISSQIERPIRIVALSSSLSNAKDV
AHWLGCSATSTFNFHPNVRPVPLELHIQGFNISHTQTRLLSMAKPVYHAI
TKHSPKKPVIVFVPSRKQTRLTAIDILTTCAADIQRQRFLHCTEKDLIPY
LEKLSDSTLKETLLNGVGYLHEGLSPMERRLVEQLFSSGAIQVVVASRSL
CWGMNVAAHLVIIMDTQYYNGKIHAYVDYPIYDVLQMVGHANRPLQDDEG
RCVIMCQGSKKDFFKKFLYEPLPVESHLDHCMHDHFNAEIVTKTIENKQD
AVDYLTWTFLYRRMTQNPNYYNLQGISHRHLSDHLSELVEQTLSDLEQSK
CISIEDEMDVAPLNLGMIAAYYYINYTTIELFSMSLNAKTKVRGLIEIIS
NAAEYENIPIRHHEDNLLRQLAQKVPHKLNNPKFNDPHVKTNLLLQAHLS
RMQLSAELQSDTEEILSKAIRLIQACVDVLSSNGWLSPALAAMELAQMVT
QAMWSKDSYLKQLPHFTSEHIKRCTDKGVESVFDIMEMEDEERNALLQLT
DSQIADVARFCNRYPNIELSYEVVDKDSIRSGGPVVVLVQLEREEEVTGP
VIAPLFPQKREEGWWVVIGDAKSNSLISIKRLTLQQKAKVKLDFVAPATG
AHNYTLYFMSDAYMGCDQEYKFSVDVKEAETDSDSD*
a.a.
length
InterPro Name
length(257), motif(410:666) 257IPR027417P-loop containing nucleoside triphosphate hydrolase [Domain]
length(183), motif(472:654) 183IPR027417P-loop containing nucleoside triphosphate hydrolase [Domain]
length(214), motif(477:690) 214IPR014001Helicase superfamily 1/2, ATP-binding domain [Domain]
length(177), motif(483:659) 177IPR011545DEAD/DEAH box helicase domain [Domain]
length(184), motif(490:673) 184IPR014001Helicase superfamily 1/2, ATP-binding domain [Domain]
length(186), motif(495:680) 186IPR003593AAA+ ATPase domain [Domain]
length(213), motif(676:888) 213IPR027417P-loop containing nucleoside triphosphate hydrolase [Domain]
length(238), motif(684:921) 238IPR001650Helicase, C-terminal [Domain]
length(194), motif(706:899) 194IPR027417P-loop containing nucleoside triphosphate hydrolase [Domain]
length(93), motif(768:860) 93IPR001650Helicase, C-terminal [Domain]
length(80), motif(780:859) 80IPR001650Helicase, C-terminal [Domain]
length(310), motif(978:1287) 310IPR004179Sec63 domain [Domain]
length(306), motif(981:1286) 306IPR004179Sec63 domain [Domain]
length(305), motif(982:1286) 305IPR004179Sec63 domain [Domain]
length(292), motif(1214:1505) 292IPR027417P-loop containing nucleoside triphosphate hydrolase [Domain]
length(204), motif(1323:1526) 204IPR027417P-loop containing nucleoside triphosphate hydrolase [Domain]
length(205), motif(1324:1528) 205IPR014001Helicase superfamily 1/2, ATP-binding domain [Domain]
length(180), motif(1330:1509) 180IPR011545DEAD/DEAH box helicase domain [Domain]
length(176), motif(1337:1512) 176IPR014001Helicase superfamily 1/2, ATP-binding domain [Domain]
length(192), motif(1342:1533) 192IPR003593AAA+ ATPase domain [Domain]
length(210), motif(1514:1723) 210IPR027417P-loop containing nucleoside triphosphate hydrolase [Domain]
length(209), motif(1545:1753) 209IPR001650Helicase, C-terminal [Domain]
length(170), motif(1547:1716) 170IPR027417P-loop containing nucleoside triphosphate hydrolase [Domain]
length(89), motif(1607:1695) 89IPR001650Helicase, C-terminal [Domain]
length(50), motif(1617:1666) 50IPR001650Helicase, C-terminal [Domain]
length(317), motif(1809:2125) 317IPR004179Sec63 domain [Domain]
length(313), motif(1812:2124) 313IPR004179Sec63 domain [Domain]
length(119), motif(2015:2133) 119IPR000008C2 domain [Domain]
length(113), motif(2016:2128) 113IPR014756Immunoglobulin E-set [Domain]

Protein function information
H-Inv protein ID HIP000025199
Representative H-Inv transcript ID Transcript view HIT000255549
H-Inv cluster ID Locus view HIX0002273
Definition U5 small nuclear ribonucleoprotein 200 kDa helicase; EC=3.6.4.13; Activating signal cointegrator 1 complex subunit 3-like 1; BRR2 homolog; U5 snRNP-specific 200 kDa protein; U5-200KD;
Similarity category Help Identical to known human protein(Category I).
Identical to known human protein (O75643) [Identity/coverage = 99.953%/100.0%] to Homo sapiens (Human). protein.
Gene family/group H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
EC number EC 3.6.4.13 RNA helicase
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer No. of interaction 9
Interaction partner(s) HIP000023960; HIP000023960; HIP000027883; HIP000051075; HIP000051643; HIP000066993; HIP000079240; HIP000095919; HIP000096070;
BIND NA
DIP 112369E; 112498E; 112504E; 113073E; 113525E; 114627E; 115068E; 115196E; 116888E; 117197E; 117499E; 144736E; 63648E; 77484E; 77582E;
MINT MINT-50348; MINT-50857; MINT-5205638; MINT-6488791; MINT-7945693; MINT-7947479;
HPRD 00535; 00777; 01655; 01818; 02877; 03144; 03184; 04116; 04184; 04340; 04627; 05127; 05442; 05496; 05639; 06295; 06942; 07165; 07341; 07601; 08481; 12106; 14384; 16057; 16246;
IntAct NA
Database links RefSeq NA
UniProt NA
CCDS NA
Gene symbol/name HGNC symbol SNRNP200
HGNC aliases "activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)";
HGNC name small nuclear ribonucleoprotein 200kDa (U5);
Related H-InvDB links G-integraG-integra ; PPI viewer PPI view ; TACT TACT ;

Glycosylation
GPDB (GlycoProtDB)
GPDB
ID NA
Protein name NA
Organism NA
Length(aa) NA

Subcellular localization information
WoLF PSORT cytosol;
Target P Other
SOSUI soluble protein
TMHMM soluble protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP) GTOP Last modified : 27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
413 665 2fwrA2 4e-12 19.2 208/234 c.37.1.19
773 875 2eyqA5 4e-13 28.3 92/211 c.37.1.19
889 993 2p6rA1 1e-19 17.1 82/85 a.4.5.43
1089 1322 2cb2A1 4e-07 13.0 230/307 d.58.4.17
1318 1504 1hv8A1 9e-18 24.3 177/208 c.37.1.19
1520 1722 2p6rA4 7e-11 20.7 198/201 c.37.1.19
1724 1817 2p6rA1 3e-19 15.6 75/85 a.4.5.43
1840 2015 2q0zX1 1e-23 96.6 176/176 a.289.1.1
2016 2129 2q0zX2 2e-39 86.8 114/114 b.1.18.22
Related H-InvDB links GTOP GTOP

Evolutionary information
Relationship Species Accession number MGI Links
Orthology Mus sp. (Mouse) BC063261 MGI:2444401 G-integraG-integra
Orthology Canis sp. (Dog) ENSCAFT00000010875 G-integraG-integra
Orthology Macaca sp. (Macaque) ENSMMUT00000032731 G-integraG-integra
Orthology Monodelphis sp. (Opossum) ENSMODT00000010746 G-integraG-integra
Orthology Oryzias sp. (Medaka) ENSORLT00000015379 G-integraG-integra
Orthology Rattus sp. (Rat) ENSRNOT00000043895 G-integraG-integra
Orthology Tetraodon sp. (Tetraodon) GSTENT00007268001 G-integraG-integra
Orthology Danio sp. (Zebrafish) NM_001123257 G-integraG-integra
Orthology Takifugu sp. (Fugu) SINFRUT00000181802 G-integraG-integra
Orthology Pan sp. (Chimpanzee) XM_001147672 G-integraG-integra
Orthology Equus sp. (Horse) XM_001492679 G-integraG-integra
Orthology Bos sp. (Cow) XM_865331 G-integraG-integra
Phylogenetic tree [View by ATV] TNeighbor-joining (phb) 
Related H-InvDB links EvolaEvola dN/dS

Translation polymorphism (SNP) and microsatellite (STR) information

Single Nucleotide Polymorphism (SNP) and indel VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
84..84 G/A rs149919257 - CDS Synonymous[Ala2Ala]
129..129 G/T rs139172908 - CDS Synonymous[Ser17Ser]
165..165 C/T rs140629902 - CDS Synonymous[Asp29Asp]
311..311 G/A rs187670771 - CDS Nonsynonymous[Arg78Gln]
348..348 G/A rs200645344 - CDS Synonymous[Leu90Leu]
351..351 G/A rs115907254 - CDS Synonymous[Ser91Ser]
414..414 C/A rs143313285 - CDS Synonymous[Thr112Thr]
468..468 T/C rs138291954 - CDS Synonymous[Asp130Asp]
501..501 T/C rs140702204 - CDS Synonymous[Ala141Ala]
519..519 G/A rs146883748 - CDS Synonymous[Lys147Lys]
523..523 C/T rs150957097 - CDS Nonsynonymous[Arg149Trp]
539..539 G/A rs148449171 - CDS Nonsynonymous[Arg154Gln]
656..656 A/G rs144423660 - CDS Nonsynonymous[Asp193Gly]
729..729 C/T rs147219591 - CDS Synonymous[Tyr217Tyr]
763..763 A/G rs142994403 - CDS Nonsynonymous[Met229Val]
774..774 C/T rs144761908 - CDS Synonymous[Asp232Asp]
783..783 C/T rs148119575 - CDS Synonymous[Val235Val]
801..801 G/A rs2276647 - CDS Synonymous[Ser241Ser]
810..810 C/T rs199688602 - CDS Synonymous[Leu244Leu]
846..846 G/A rs78244654 - CDS Synonymous[Lys256Lys]
963..963 G/A rs138992215 - CDS Synonymous[Thr295Thr]
974..974 A/G rs149031245 - CDS Nonsynonymous[Asp299Gly]
1008..1008 T/C rs150302405 - CDS Synonymous[Leu310Leu]
1078..1078 C/T rs202177152 - CDS Synonymous[Leu334Leu]
1112..1112 G/A rs140158261 - CDS Nonsynonymous[Arg345Lys]
1225..1225 C/T rs142216052 - CDS Nonsynonymous[Arg383Cys]
1237..1237 A/G rs142729495 - CDS Nonsynonymous[Met387Val]
1393..1393 C/T rs199661848 - CDS Nonsynonymous[Arg439Cys]
1526..1526 G/A rs199570183 - CDS Nonsynonymous[Arg483Gln]
1547..1547 G/A rs144219123 - CDS Nonsynonymous[Arg490His]
1562..1562 C/T rs139286118 - CDS Nonsynonymous[Thr495Met]
1563..1563 G/A rs142142479 - CDS Synonymous[Thr495Thr]
1611..1611 C/T rs146146145 - CDS Synonymous[Asn511Asn]
1623..1623 G/A rs200363070 - CDS Nonsynonymous[Met515Ile]
1632..1632 C/T rs189141233 - CDS Synonymous[Leu518Leu]
1659..1659 G/A rs148170370 - CDS Nonsynonymous[Met527Ile]
1812..1812 A/C rs199985246 - CDS Nonsynonymous[Glu578Asp]
1848..1848 C/T rs148824604 - CDS Synonymous[Pro590Pro]
1872..1872 C/A rs145902532 - CDS Synonymous[Arg598Arg]
1932..1932 T/C rs147622706 - CDS Synonymous[His618His]
1947..1947 C/T rs140365889 - CDS Synonymous[Asp623Asp]
1980..1980 G/A rs200401868 - CDS Synonymous[Arg634Arg]
1987..1987 C/G rs201097488 - CDS Nonsynonymous[Arg637Gly]
2074..2074 C/T rs200546584 - CDS Nonsynonymous[Arg666Cys]
2172..2172 C/T rs182700539 - CDS Synonymous[Ile698Ile]
2200..2200 G/A rs191245006 - CDS Nonsynonymous[Val708Ile]
2205..2205 T/C rs113303060 - CDS Synonymous[Tyr709Tyr]
2402..2402 A/G rs201944329 - CDS Nonsynonymous[Lys775Arg]
2466..2466 C/T rs200124876 - CDS Synonymous[Leu796Leu]
2481..2481 T/G rs142749600 - CDS Nonsynonymous[Phe801Leu]
2658..2658 G/A rs146330668 - CDS Synonymous[Gln860Gln]
2743..2743 A/G rs140087655 - CDS Nonsynonymous[Ile889Val]
2793..2793 C/T rs138641050 - CDS Synonymous[Ile905Ile]
2838..2838 G/C rs140118056 - CDS Synonymous[Leu920Leu]
2878..2878 A/G rs149616320 - CDS Nonsynonymous[Thr934Ala]
2935..2935 C/A rs150917167 - CDS Synonymous[Arg953Arg]
2957..2957 C/T rs138686895 - CDS Nonsynonymous[Ala960Val]
3062..3062 A/G rs143494993 - CDS Nonsynonymous[Asn995Ser]
3083..3083 A/G rs143529458 - CDS Nonsynonymous[Asn1002Ser]
3097..3097 C/T rs148878242 - CDS Nonsynonymous[Pro1007Ser]
3141..3141 C/T rs150178118 - CDS Synonymous[Ser1021Ser]
3156..3156 C/T rs146778360 - CDS Synonymous[Asn1026Asn]
3173..3173 A/G rs76017391 - CDS Nonsynonymous[Glu1032Gly]
3360..3360 G/A rs149355805 - CDS Synonymous[Ala1094Ala]
3393..3393 A/G rs151063400 - CDS Synonymous[Ala1105Ala]
3540..3540 C/T rs148570522 - CDS Synonymous[Tyr1154Tyr]
3560..3560 T/G rs202181016 - CDS Nonsynonymous[Ile1161Ser]
3575..3575 G/T rs201322956 - CDS Nonsynonymous[Arg1166Leu]
3612..3612 C/T rs150152124 - CDS Synonymous[Val1178Val]
3628..3628 T/C rs3171927 + CDS Synonymous[Leu1184Leu]
3732..3732 C/T rs3214060 + CDS Synonymous[Ser1218Ser]
3768..3768 C/T rs200634658 - CDS Synonymous[Ser1230Ser]
3930..3930 C/G rs137963907 - CDS Synonymous[Val1284Val]
3954..3954 A/G rs115923152 - CDS Synonymous[Pro1292Pro]
3966..3966 C/G rs143175658 - CDS Synonymous[Pro1296Pro]
3975..3975 C/G rs144934076 - CDS Synonymous[Thr1299Thr]
4107..4107 C/T rs145242546 - CDS Synonymous[Asp1343Asp]
4187..4187 A/T rs114028687 - CDS Nonsynonymous[Gln1370Leu]
4194..4194 G/A rs144840027 - CDS Synonymous[Ser1372Ser]
4240..4240 C/A rs147326844 - CDS Nonsynonymous[Gln1388Lys]
4243..4243 G/A rs143898031 - CDS Nonsynonymous[Val1389Ile]
4309..4309 G/A rs185671719 - CDS Nonsynonymous[Glu1411Lys]
4338..4338 C/A rs201259831 - CDS Synonymous[Gly1420Gly]
4363..4363 C/G rs200737497 - CDS Nonsynonymous[Pro1429Ala]
4392..4392 A/T rs200779587 - CDS Synonymous[Arg1438Arg]
4455..4455 C/T rs191438128 - CDS Synonymous[Ile1459Ile]
4515..4515 C/T rs11538637 + CDS Synonymous[Ser1479Ser]
4539..4539 T/C rs149279321 - CDS Synonymous[Ile1487Ile]
4557..4557 G/A rs199683761 - CDS Synonymous[Ser1493Ser]
4569..4569 C/G rs138474107 - CDS Synonymous[Ala1497Ala]
4605..4605 C/T rs138123740 - CDS Synonymous[Thr1509Thr]
4639..4639 G/A rs191776366 - CDS Nonsynonymous[Val1521Ile]
4683..4683 A/C rs145602931 - CDS Synonymous[Thr1535Thr]
4720..4720 C/T rs200736296 - CDS Nonsynonymous[His1548Tyr]
4739..4739 C/T rs143666966 - CDS Nonsynonymous[Ser1554Leu]
4756..4756 A/C rs78715863 - CDS Nonsynonymous[Ile1560Leu]
4786..4786 C/T rs201501591 - CDS Nonsynonymous[Arg1570Cys]
4787..4787 G/A rs201294843 - CDS Nonsynonymous[Arg1570His]
4790..4790 T/C rs79528888 - CDS Nonsynonymous[Leu1571Pro]
4799..4799 T/C rs199736893 - CDS Nonsynonymous[Ile1574Thr]
4812..4812 C/A rs200594034 - CDS Synonymous[Thr1578Thr]
4857..4857 C/T rs145767009 - CDS Synonymous[Thr1593Thr]
4958..4958 T/C rs201927374 - CDS Nonsynonymous[Met1627Thr]
5021..5021 G/A rs200426430 - CDS Nonsynonymous[Arg1648Gln]
5044..5044 G/A rs142585893 - CDS Nonsynonymous[Val1656Met]
5066..5066 T/C rs145701974 - CDS Nonsynonymous[Ile1663Thr]
5100..5100 C/T rs139015042 - CDS Synonymous[His1674His]
5127..5127 C/T rs148625306 - CDS Synonymous[Asp1683Asp]
5161..5161 T/A rs3208319 + CDS Nonsynonymous[Leu1695Met]
5364..5364 C/T rs142548133 - CDS Synonymous[Arg1762Arg]
5395..5395 C/T rs772175 - CDS Synonymous[Leu1773Leu]
5464..5464 C/T rs34435094 + CDS Synonymous[Leu1796Leu]
5487..5487 C/T rs139137932 - CDS Synonymous[Ser1803Ser]
5490..5490 C/T rs142524062 - CDS Synonymous[Ile1804Ile]
5496..5496 C/T rs72937669 - CDS Synonymous[Asp1806Asp]
5505..5505 C/A rs201771661 - CDS Nonsynonymous[Asp1809Glu]
5510..5510 C/T rs199511035 - CDS Nonsynonymous[Ala1811Val]
5535..5535 C/T rs148995951 - CDS Synonymous[Ala1819Ala]
5609..5609 G/A rs200533001 - CDS Nonsynonymous[Gly1844Glu]
5616..5616 C/T rs201513678 - CDS Synonymous[Ile1846Ile]
5713..5713 C/T rs113044423 - CDS Synonymous[Leu1879Leu]
5739..5739 G/A rs191125461 - CDS Synonymous[Pro1887Pro]
5742..5742 C/T rs139731897 - CDS Synonymous[His1888His]
5743..5743 G/A rs200367764 - CDS Nonsynonymous[Val1889Ile]
5751..5751 C/T rs140830137 - CDS Synonymous[Thr1891Thr]
5844..5844 C/T rs147427344 - CDS Synonymous[Leu1922Leu]
5853..5853 C/G rs72825880 - CDS Synonymous[Ala1925Ala]
6011..6011 G/C rs75956769 - CDS Nonsynonymous[Gly1978Ala]
6061..6061 G/A rs201691299 - CDS Nonsynonymous[Ala1995Thr]
6063..6063 G/A rs139075781 - CDS Synonymous[Ala1995Ala]
6150^6151 -/G rs35039833 - CDS
6158..6158 A/C rs143900661 - CDS Nonsynonymous[Asp2027Ala]
6166..6166 C/T rs150442718 - CDS Nonsynonymous[Arg2030Cys]
6373..6373 A/G rs140574531 - CDS Nonsynonymous[Thr2099Ala]
6447..6447 C/T rs61753580 - CDS Synonymous[Ser2123Ser]
6458..6458 A/G rs199945453 - CDS Nonsynonymous[Lys2127Arg]
6486..6486 T/C rs146414107 - CDS Synonymous[Asp2136Asp]
Microsatellite (Short Tandem Repeat, STR)
LocationVariationStrand
No data available
Related H-InvDB links
VaryGeneVaryGene ;