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Basic
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Structure
Seq./Align.
Variant
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Pathway
Disease

Detail Data SLC12A8


Basic description
Gene Name SLC12A8
Protein Name Solute carrier family 12 member 8 (Cation-chloride cotransporter 9)
Family SLC12
Category -
Reaction name -
Reaction -

Network
Structure


[Overview]
Position 1 0 2 0 3 0 4 0 5 0 6 0 7 0 8 0 9 0 1 0 0 1 1 0 1 2 0 1 3 0 1 4 0 1 5 0 1 6 0 1 7 0 1 8 0 1 9 0 2 0 0 2 1 0 2 2 0 2 3 0 2 4 0 2 5 0 2 6 0 2 7 0 2 8 0 2 9 0 3 0 0 3 1 0 3 2 0 3 3 0 3 4 0 3 5 0 3 6 0 3 7 0 3 8 0 3 9 0 4 0 0 4 1 0 4 2 0 4 3 0 4 4 0 4 5 0 4 6 0 4 7 0 4 8 0 4 9 0 5 0 0 5 1 0 5 2 0 5 3 0 5 4 0 5 5 0 5 6 0 5 7 0 5 8 0 5 9 0 6 0 0 6 1 0 6 2 0 6 3 0 6 4 0 6 5 0 6 6 0 6 7 0 6 8 0 6 9 0 7 0 0 7 1 0 AA Pred 
        10         20         30         40         50         60         70         80         90        100        110        120        130        140        150        160        170        180        190        200        210        220        230        240        250        260        270        280        290        300        310        320        330        340        350        360        370        380        390        400        410        420        430        440        450        460        470        480        490        500        510        520        530        540        550        560        570        580        590        600        610        620        630        640        650        660        670        680        690        700        710 
MTQMSQVQEL FHEAAQQDAL AQPQPWWKTQ LFMWEPVLFG TWDGVFTSCM INIFGVVLFL RTGWLVGNTG VLLGMFLVSF VILVALVTVL SGIGVGERSS IGSGGVYSMI SSVLGGQTGG TIGLLYVFGQ CVAGAMYITG FAESISDLLG LGNIWAVRGI SVAVLLALLG INLAGVKWII RLQLLLLFLL AVSTLDFVVG SFTHLDPEHG FIGYSPELLQ NNTLPDYSPG ESFFTVFGVF FPAATGVMAG FNMGGDLREP AASIPLGSLA AVGISWFLYI VFVFLLGAIC TREALRYDFL IAEKVSLMGF LFLLGLYISS LASCMGGLYG APRILQCIAQ EKVIPALACL GQGKGPNKTP VAAICLTSLV TMAFVFVGQV NVLAPIVTIN FMLTYVAVDY SYFSLSMCSC SLTPVPEPVL REGAEGLHCS EHLLLEKAPS YGSEGPAQRV LEGTLLEFTK DMDQLLQLTR KLESSQPRQG EGNRTPESQK RKSKKATKQT LQDSFLLDLK SPPSFPVEIS DRLPAASWEG QESCWNKQTS KSEGTQPEGT YGEQLVPELC NQSESSGEDF FLKSRLQEQD VWRRSTSFYT HMCNPWVSLL GAVGSLLIMF VIQWVYTLVN MGVAAIVYFY IGRASPGLHL GSASNFSFFR WMRSLLLPSC RSLRSPQEQI ILAPSLAKVD MEMTQLTQEN ADFATRDRYH HSSLVNREQL MPHY 
CCCCCCHHHH CCHHHHHHHH CCCCCHHHHC CCCCCCCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHCHH HHHHHHHHHH HHHHHHHHHH HHCCCCCCCC CCCCCHHHHH HHHHCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCHHHHHHH HHHHHHHHHC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC HHCCCCCCCC CCCCCCCHHC CCCCCCCCCC HHHHHHHHEE ECCHHHHHHH HHCCCCCCCC CCCCCHHHHH HHHHHHHHHH HHHHHHHCCC CCHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCHHHHHHH CCCCCHHHCC CCCCCCCCCC CCHHHHHHHH HHHHHHHHCC CHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCCCCCCCCC CCCHHHHHHH HHHHHCCCCC CCCCCHHHCC CCCCHHHHCC HHHHHHHHHH HHCCCCCCCC CCCCCCCCCC CCCCCCCHHH HHCCHHCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCHHHC CCCCCCCCCC CCCCCCCCCC HHCCCCCEEH HCCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHCCCCCC CCCCHHHHHH HHHHHHHHHH CCCCCCCCCE EECCCCCCCC CEEHHHCCCC CCHHCCCCCC CCCCCCHHHC CCCC
[Overview] SLC12A1 SLC12A2 SLC12A3 SLC12A4 SLC12A5 SLC12A6 SLC12A7 SLC12A8 SLC12A9 
SLC12A1   -------------------------------MSLNNSS--NVFLDSVPS---------------------------NTNRFQVSVINENHESSAAA---------------------DDNTDPPHYEETSFGDEAQKRLRISF------------RP-------------------------------------------------GNQECYDN----------------FLQSGETAKTD-ASFHA-------------YDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGSISGPKVNRPSLLEIHEQLAKNV----------AVTPSSADRVANG-DGIPGDEQAENKEDDQAGVVKFGWVKGVLVRCMLNIWGVMLFIRLSWIVGEAGIGLGVLIILLSTMVTSITGLSTSAIATNGFVRGGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLK-------------ESDSMMVDPTNDIRII----------GSITVVILLGISVAGMEWEAKAQVILLVILLIAIANFFI-------------------GTVIPSNNE--------------------------------------------------------KKSRGFFNYQASIFAENFGPRFT----------------KGEG----------------FFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIFITTVAYLGVAICVGAC----VVRDATGNMNDTIISGM-NCNGSAACGLGYDFSRC-RHEPCQYGLMNNFQVMSMVSGFGP-LITAGIFSATLSSALASLVSAPKVFQALCKDNIYKALQFFAKGYGKNNEPLRGYILTFLIAMAFILIAELNTIAPIISNFFLASYALINFSCFHASYAK---SPGWRPAYGIYNMWVSLFGAVLCCAVMFVINWWAAVITYVIEFFLYVYVTCKKPDVNWGSSTQALSYVSALDNALELTTVEDHVKNFRPQCIVLTGGPM----TRPALLDITHAFTKNSGLCICCEVFVG------PRKLCVKEMNSGMAKKQAWLI---KNKIKAFYAAVAADCFRDGVRSLLQASGLGRMK-------------PNTLVIGYKKNWRKAPLTE----------------------------------------IENYVGIIHDAFDFEIGVVIVRISQGFDISQVLQVQEELERLEQER--------LALEATIKDN--------------ECEEESG--GIRGLFKKAGK-----LNITKTTPKKDGSINTSQSMHVGEFNQKLV----EASTQFKKKQEKGTIDVW-------------WL-----------FDDGGLTLL-IPYILTLRKKWKDCKLRIYV--------GGKINRIEEE----KIVMASLLSKFRIKFADIHII----GDINIRPNKESWKVFE---EMI--------EPYRLHESCKDLT--------------------------------------------------------------------TAEKLKRETPWKITDAELEAVK----------------------------EKSYRQVRLN------------ELLQEHSRAANLIVLSLPVARKGSISDLLYMAWLEILTKNL-PPVLLVRGNHKNVLTFYS-
SLC12A2   MEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVRDEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEPAKGSEEAKGRFRVNF-----------VDP-------------------------------------------------AASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEKLLRPSLAELHDELEKE---------------PFEDGFANGEESTPTRDAVVTYTAESKGVVKFGWIKGVLVRCMLNIWGVMLFIRLSWIVGQAGIGLSVLVIMMATVVTTITGLSTSAIATNGFVRGGGAYYLISRSLGPEFGGAIGLIFAFANAVAVAMYVVGFAETVVELLK-------------EHSILMIDEINDIRII----------GAITVVILLGISVAGMEWEAKAQIVLLVILLLAIGDFVI-------------------GTFIPLES---------------------------------------------------------KKPKGFFGYKSEIFNENFGPDFR----------------EEET----------------FFSVFAIFFPAATGILAGANISGDLADPQSAIPKGTLLAILITTLVYVGIAVSVGSC----VVRDATGNVNDTIVTELTNCT-SAACKLNFDFSSC-ESSPCSYGLMNNFQVMSMVSGFTP-LISAGIFSATLSSALASLVSAPKIFQALCKDNIYPAFQMFAKGYGKNNEPLRGYILTFLIALGFILIAELNVIAPIISNFFLASYALINFSVFHASLAK---SPGWRPAFKYYNMWISLLGAILCCIVMFVINWWAALLTYVIVLGLYIYVTYKKPDVNWGSSTQALTYLNALQHSIRLSGVEDHVKNFRPQCLVMTGAPN----SRPALLHLVHDFTKNVGLMICGHVHMG------PRRQAMKEMSIDQAKYQRWLI---KNKMKAFYAPVHADDLREGAQYLMQAAGLGRMK-------------PNTLVLGFKKDWLQADMRD----------------------------------------VDMYINLFHDAFDIQYGVVVIRLKEGLDISH-LQGQEELLS-SQEKSPGTKDVVVSVEYSKKSDLDTSKPLSEKPITHKVEEEDGKTATQPLLKKESKGPIVPLNVA---------------------DQKLL----EASTQFQKKQGKNTIDVW-------------WL-----------FDDGGLTLL-IPYLLTTKKKWKDCKIRVFI--------GGKINRIDHD----RRAMATLLSKFRIDFSDIMVL----GDINTKPKKENIIAFE---EII--------EPYRLHEDDKEQD--------------------------------------------------------------------IADKMKEDEPWRITDNELELYK----------------------------TKTYRQIRLN------------ELLKEHSSTANIIVMSLPVARKGAVSSALYMAWLEALSKDL-PPILLVRGNHQSVLTFYS-
SLC12A3   ------------------------------MAELPTTE--------TPG-----------------------DATLCSGRFTISTLLS-----------------------------SD------------------------------------EP-------------------------------------------------SPPAAYDSS------------------------------HPS------------HLTHSSTFCMRTFGYNTIDVVPTYEHYANSTQPGEPRKVRPTLADLHSFLKQEGRHLHALAFDSRPSHEMTDGLVEG-------EAGTSSEKNPEEPVRFGWVKGVMIRCMLNIWGVILYLRLPWITAQAGIVLTWIIILLSVTVTSITGLSISAISTNGKVKSGGTYFLISRSLGPELGGSIGLIFAFANAVGVAMHTVGFAETVRDLLQ-------------EYGAPIVDPINDIRII----------GVVSVTVLLAISLAGMEWESKAQVLFFLVIMVSFANYLV-------------------GTLIPPSED--------------------------------------------------------KASKGFFSYRADIFVQNLVPDWR----------------GPDGT---------------FFGMFSIFFPSATGILAGANISGDLKDPAIAIPKGTLMAIFWTTISYLAISATIGSC----VVRDASGVLNDTVTPGWGACE-GLACSYGWNFTECTQQHSCHYGLINYYQTMSMVSGFAP-LITAGIFGATLSSALACLVSAAKVFQCLCEDQLYPLIGFFGKGYGKNKEPVRGYLLAYAIAVAFIIIAELNTIAPIISNFFLCSYALINFSCFHASITN---SPGWRPSFQYYNKWAALFGAIISVVIMFLLTWWAALIAIGVVLFLLLYVIYKKPEVNWGSSVQAGSYNLALSYSVGLNEVEDHIKNYRPQCLVLTGPPN----FRPALVDFVGTFTRNLSLMICGHVLIG------PHKQRMPELQLIANGHTKWLN---KRKIKAFYSDVIAEDLRRGVQILMQAAGLGRMK-------------PNILVVGFKKNWQSAHPAT----------------------------------------VEDYIGILHDAFDFNYGVCVMRMREGLNVSKMMQAH-------------------------------INPVFDP-------AEDG---------KEASARGARPSVS------------------GALDPKALVKEEQATTIFQSEQGKKTIDIY-------------WL-----------FDDGGLTLL-IPYLLGRKRRWSKCKIRVFV--------GGQINRMDQE----RKAIISLLSKFRLGFHEVHIL----PDINQNPRAEHTKRFE---DMI--------APFRLNDGFKDEA--------------------------------------------------------------------TVNEMRRDCPWKISDEEITKNR----------------------------VKSLRQVRLN------------EIVLDYSRDAALIVITLPIGRKGKCPSSLYMAWLETLSQDLRPPVILIRGNQENVLTFYCQ
SLC12A4   ----------------------------------------------MP-------------------------------HFTVVPV----------------------------------DGPRRGD--------------------------------------------------------YDNLEGLSWVD-YGERAELDDSDGHGNHRESS--------------PFLSPLEASRGI-----------------DYYDRNLALF------EEELDI-------------------RPKVSSLLGKLVSYT------------------NLTQGAKEHEEAESGEGTRRRAAEAPSMGTLMGVYLPCLQNIFGVILFLRLTWMVGTAGVLQALLIVLICCCCTLLTAISMSAIATNGVVPAGGSYFMISRSLGPEFGGAVGLCFYLGTTFAAAMYILGAIEILLTYIAPPAAIFYPSGAHDTSNATL----NNMRVY----------GTIFLTFMTLVVFVGVKYVNKFASLFLACVIISILSIYAGGIK---------------SIFDPPVFPVCMLGNRTLSRDQFDICAKTAVVDNETVATQLWSFFCHSPNLTTDSCDPYFMLNNVTEIPGIPGAAAGVLQENLWSAYLEKGDIVEKHGLPSAD-APSLKESL-PLYVVADIATSFTVLVGIFFPSVTGIMAGSNRSGDLRDAQKSIPVGTILAIITTSLVYFSSVVLFGACIEGVVLRDKYG---DGVSRNL---------------------------------VVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIPFLRVFGHG-KVNGEPTWALLLTALIAELGILIASLDMVAPILSMFFLMCYLFVNLACAVQTLLR---TPNWRPRFKYYHWALSFLGMSLCLALMFVSSWYYALVAMLIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKYPRLLTFASQLKAGKGLTIVGSVIQGSFLESYGEAQAAEQ-------TIKNMM--EIEKVKGFCQVVVASKVREGLAHLIQSCGLGGMR-------------HNSVVLGWPYGWRQSEDPR---------------------------------------AWKTFIDTVRCTTAAHLALLVPK----------------------------------------------------------------------------------NIA-FYPS----------------NHERY--------------LEGHIDVW-------------WI-----------VHDGGMLML-LPFLLRQHKVWRKCRMRIFT-----------VAQMDDNSIQMKKDLAVFLYHLRLE-AEVEVVEMHNSDISAY-TYERTLMMEQRSQML--------RQMRLTKTERER-----------------------------------------EAQLVKDRHSALRLESLYSDEEDES---AVGADKIQMTWTRDKYMTETWD--PSHAPDNFRELVHIKP-----DQSNVRRMHTAVKLN------------EVIVTRSHDARLVLLNMPGPPRNSEGDENYMEFLEVLTEGL-ERVLLVRGGGREVITIYS-
SLC12A5   ----------------------------------------------MS------------------------------RRFTV------------------------------------TSLPPAGPARSPDPESR---------RHSVAD-PRHLP---------------------------------------GE-----DVKGDGNPKESS--------------PFINSTDTEKGK-----------------EYDGKNMALF------EEEMDT-------------------SPMVSSLLSGLANYT------------------NLPQGSREHEEAENNEGGKKKPVQAPRMGTFMGVYLPCLQNIFGVILFLRLTWVVGIAGIMESFCMVFICCSCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEILLAYLFPAMAIFKAEDASGEAAAML----NNMRVY----------GTCVLTCMATVVFVGVKYVNKFALVFLGCVILSILAIYAGVIK---------------SAFDPPNFPICLLGNRTLSRHGFDVCAKLAWEGNETVTTRLWGLFCSSRFL-NATCDEYFTRNNVTEIQGIPGAASGLIKENLWSSYLTKGVIVERSGMTSVGLADGTPIDMDHPYVFSDMTSYFTLLVGIYFPSVTGIMAGSNRSGDLRDAQKSIPTGTILAIATTSAVYISSVVLFGACIEGVVLRDKFG---EAVNGNL---------------------------------VVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAISRDGIVPFLQVFGHG-KANGEPTWALLLTACICEIGILIASLDEVAPILSMFFLMCYMFVNLACAVQTLLR---TPNWRPRFRYYHWTLSFLGMSLCLALMFICSWYYALVAMLIAGLIYKYIEYRGAEKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLVRVDQDQNVVHPQLLSLTSQLKAGKGLTIVGSVLEGTFLENHPQAQRAEE-------SIRRLM--EAEKVKGFCQVVISSNLRDGVSHLIQSGGLGGLQ-------------HNTVLVGWPRNWRQKEDHQ---------------------------------------TWRNFIELVRETTAGHLALLVTK----------------------------------------------------------------------------------NVS-MFPG----------------NPERF--------------SEGSIDVW-------------WI-----------VHDGGMLML-LPFLLRHHKVWRKCKMRIFT-----------VAQMDDNSIQMKKDLTTFLYHLRIT-AEVEVVEMHESDISAY-TYEKTLVMEQRSQIL--------KQMHLTKNEREREIQSITDESRGSIRRKNPANTRLRLNVPEETAGDSEEKPEEEVQLIHDQSAPSCPSSSPSPGEEPEGEGETDPEKVHLTWTKDKSVAEKNKGPSPVSSEGIKDFFSMKPEWENLNQSNVRRMHTAVRLN------------EVIVKKSRDAKLVLLNMPGPPRNRNGDENYMEFLEVLTEHL-DRVMLVRGGGREVITIYS-
SLC12A6   ---------------------------------------------MHPPET---------------------TTKMASVRFMVTPTKI-------------------------------DDIPGLSDT-SPDLSSRSSSRVRFSSRESVPETSRSEPMSEMSGATTSLATVALDPPSDRTSHPQDVIEDLSQNSITGEHSQLLD-DGHKKARNA----------------YLNNSNYEEGD-----------------EYFDKNLALF------EEEMDT-------------------RPKVSSLLNRMANYT------------------NLTQGAKEHEEAENITEGKKKPTKTPQMGTFMGVYLPCLQNIFGVILFLRLTWVVGTAGVLQAFAIVLICCCCTMLTAISMSAIATNGVVPAGGSYFMISRALGPEFGGAVGLCFYLGTTFAAAMYILGAIEIFLVYIVPRAAIFHSDDALKESAAML----NNMRVY----------GTAFLVLMVLVVFIGVRYVNKFASLFLACVIVSILAIYAGAIK---------------SSFAPPHFPVCMLGNRTLSSRHIDVCSKTKEINNMTVPSKLWGFFCNSSQFFNATCDEYFVHNNVTSIQGIPGLASGIITENLWSNYLPKGEIIEK---PSAK-SSDVLGSLNHEYVLVDITTSFTLLVGIFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAILTTSFVYLSNVVLFGACIEGVVLRDKFG---DAVKGNL---------------------------------VVGTLSWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIPFLRVFGHS-KANGEPTWALLLTAAIAELGILIASLDLVAPILSMFFLMCYLFVNLACALQTLLR---TPNWRPRFRYYHWALSFMGMSICLALMFISSWYYAIVAMVIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARFALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKHPRLLTFASQLKAGKGLTIVGSVIVGNFLENYGEALAAEQ-------TIKHLM--EAEKVKGFCQLVVAAKLREGISHLIQSCGLGGMK-------------HNTVVMGWPNGWRQSEDAR---------------------------------------AWKTFIGTVRVTTAAHLALLVAK----------------------------------------------------------------------------------NIS-FFPS----------------NVEQF--------------SEGNIDVW-------------WI-----------VHDGGMLML-LPFLLKQHKVWRKCSIRIFT-----------VAQLEDNSIQMKKDLATFLYHLRIE-AEVEVVEMHDSDISAY-TYERTLMMEQRSQML--------RHMRLSKTERDR-----------------------------------------EAQLVKDRNSMLRLTSIGSDEDEET---ETYQEKVHMTWTKDKYMASRGQ--KAKSMEGFQDLLNMRP-----DQSNVRRMHTAVKLN------------EVIVNKSHEAKLVLLNMPGPPRNPEGDENYMEFLEVLTEGL-ERVLLVRGGGSEVITIYS-
SLC12A7   ----------------------------------------------MP------------------------------TNFTVVPVEAHAD-------------------GGGDETAERTEAP--GTPEGPEPE-------------------RPSP-------------------------------------------------GDGNPRENS--------------PFLNNVEVEQES-----------------FFEGKNMALF------EEEMDS-------------------NPMVSSLLNKLANYT------------------NLSQGVVEHEE---DEESRRREAKAPRMGTFIGVYLPCLQNILGVILFLRLTWIVGVAGVLESFLIVAMCCTCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEIFLTYISPGAAIFQAEAAGGEAAAML----HNMRVY----------GTCTLVLMALVVFVGVKYVNKLALVFLACVVLSILAIYAGVIK---------------SAFDPPDIPVCLLGNRTLSRRSFDACVKAYGIHNNSATSALWGLFCNGSQP-SAACDEYFIQNNVTEIQGIPGAASGVFLENLWSTYAHAGAFVEKKGVPSVPVAEESRASA-LPYVLTDIAASFTLLVGIYFPSVTGIMAGSNRSGDLKDAQKSIPTGTILAIVTTSFIYLSCIVLFGACIEGVVLRDKFG---EALQGNL---------------------------------VIGMLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIARDGIVPFLQVFGHG-KANGEPTWALLLTVLICETGILIASLDSVAPILSMFFLMCYLFVNLACAVQTLLR---TPNWRPRFKFYHWTLSFLGMSLCLALMFICSWYYALSAMLIAGCIYKYIEYRGAEKEWGDGIRGLSLNAARYALLRVEHGPPHTKNWRPQVLVMLNLDAEQAVKHPRLLSFTSQLKAGKGLTIVGSVLEGTYLDKHMEAQRAEE-------NIRSLM--STEKTKGFCQLVVSSSLRDGMSHLIQSAGLGGLK-------------HNTVLMAWPASWKQEDNPF---------------------------------------SWKNFVDTVRDTTAAHQALLVAK----------------------------------------------------------------------------------NVD-SFPQ----------------NQERF--------------GGGHIDVW-------------WI-----------VHDGGMLML-LPFLLRQHKVWRKCRMRIFT-----------VAQVDDNSIQMKKDLQMFLYHLRIS-AEVEVVEMVENDISAF-TYERTLMMEQRSQML--------KQMQLSKNEQER-----------------------------------------EAQLIHDRNTASHTAAAARTQAPPT------PDKVQMTWTREKLIAEKYRS-RDTSLSGFKDLFSMKP-----DQSNVRRMHTAVKLN------------GVVLNKSQDAQLVLLNMPGPPKNRQGDENYMEFLEVLTEGL-NRVLLVRGGGREVITIYS-
SLC12A8   -------------------------------------------------------------------------------MTQMSQVQE------------------------------------------------------------------------------------L---------------------------------FHEAAQQDALA----------------------------QPQ----------PWWKTQLFMW-------------------------------EPVL--------------------------------------------------------FGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAESISDLLGL----------------------GNIWAV-RGI------SVAVLLALLGINLAGVKWIIRLQLLLLFLLAVSTLDFVV-------------------GSFTHLDPE-----------------------------------------------------------HGFIGYSPELLQNNTLPDYS-----------PG---------------------ESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIVFVFLLGAI----CTREALR----------------------YDFL-----------------IAEKVSLMGF-LFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLR--------------------------------------------------EGAEGLHCSEH----LLLEKAPSYGSE-GPAQRVLEGTLLEFTKDMDQLLQLTRKLESS--------------QPRQGEGNRTPE----------------SQKRKS----------KKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKS---------------------------------------------------------------------------------------------------------------------------EG-----------------------TQPE---------GTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLL--------GAVGSLLIM---FVI----QW------VYTL------------------VNMGVAAIVYFYIGRAS-PGLHLG-----------SASNFSFFRWMRSLLL-------PSCRSLRSPQEQIIL--------------------------------------------------------------------------------------------------------------------APSLAKVDMEMT----------QLTQENADFA---------------------------TRDRYHHSSLV--NREQLMPHY--
SLC12A9   -----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------MASESS-------------------------------------------------------------------------------------PLLA--YRLLGEEGVALP----------------ANG-AGGPGGASAR----------KLSTFLGVVVPTVLSMFSIVVFLRIGFVVGHAGLLQALAMLLVAYFILALTVLSVCAIATNGAVQGGGAYFMISRTLGPEVGGSIGLMFYLANVCGCAVSLLGLVESVLDVF----------------GADATGP-SGLRVLPQGYGWNLLYGSLLLGLVGGVCTLGAGLYARASFLTFLLVSGSLASVLISFVAVGPRDIRLTPRPGPNGSSLPPRF------------------------------------------------------------GHFTGFNSSTLKDNLGAGYA----------------EDYTTGAV----------MNFASVFAVLFNGCTGIMAGANMSGELKDPSRAIPLGTIVAVAYTFFVYVLL----------------------FFLSSF-TCD-RTLLQEDYGFFRA-------------------ISLWPP-LVLIGIYATALSASMSSLIGASRILHALARDDLFGVILAPAKVVSRGGNPWAAVLYSWGLVQLVLLAGKLNTLAAVVTVFYLVAYAAVDLSCLSLEWAS---APNFRPTFSLFSWHTCLLGVASCLLMMFLISPGAAGGSLLLMGLLAALLTARGGPSSWGYVSQALLFHQVRKYLLRLDVRKDHVKFWRPQLLLLVGNPR----GALPLLRLANQLKKG-GLYVLGHVTLGD-LDSLPSDPVQPQ-------YGAWLSLVDRAQVKAFVDLTLSPSVRQGAQHLLRISGLGGMK-------------PNTLVLGF---YDDAPPQDHFLTDPAFSEPADSTREGSSPALSTLFPPPRAPGSPRALNPQDYVATVADALKMNKNVVLARAS-----------------------------------------------------------------------------------------------------GALPPERLSRGSGGTSQLHH------VDVW-------------PLNLLRPRGGPGYVDVCGLFLLQMATILGMVPAWHSARLRIFLCLGPREAPGAAEGRLR-----------ALLSQLRI-------------------RAE----VQ---EVVWGEGAGAGEP----EAEEEGD--------------------------------------------------------------------FVNSGR-------GDAEAEALA----------------------------RSANALVRAQQGRGTGGGPGGPEGGDAEGPITALTFLYLPRPPADPARYPRYLALLETLTRDL-GPTLLVHGVTPVTCTDL--

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC12A8 9 E/D 0.000353071 rs200348950
-- SLC12A8 27 N/S 0.00054457 rs187862668
-- SLC12A8 28 G/E 0.00582517 rs368281490
-- SLC12A8 39 H/R 0.000669278 rs3732496
-- SLC12A8 61 R/W 0.000188555 rs369332972
-- SLC12A8 63 R/Q 0.000120409 rs376320288
-- SLC12A8 63 R/W 0.0370823 rs34985183
-- SLC12A8 79 S/F 0.000393657 rs201200353
-- SLC12A8 104 G/S 0.000120409 rs376320288
-- SLC12A8 112 S/L 0.00016462 rs200999644
-- SLC12A8 181 R/H 0.000116205 rs147013897
-- SLC12A8 181 R/C 0.0561612 rs2993631
-- SLC12A8 195 L/P 0.00477297 rs201533072
-- SLC12A8 237 F/S 0.00078522 rs200359164
-- SLC12A8 250 G/S 0.000169575 rs760028246
-- SLC12A8 266 P/L 0.995743 rs863642
-- SLC12A8 281 I/V 0.999759 rs621383
-- SLC12A8 313 L/V 0.000144373 rs772155850
-- SLC12A8 328 L/P 0.000128278 rs757911434
-- SLC12A8 338 I/V 0.000116296 rs373242490
-- SLC12A8 396 V/I 0.000128288 rs753657542
-- SLC12A8 410 C/Y 0.00248581 rs114987541
-- SLC12A8 418 P/L 0.000200504 rs200756737
-- SLC12A8 478 R/S 0.00779453 rs76714073
-- SLC12A8 498 K/N 0.00148675 rs200313431
-- SLC12A8 518 E/K 0.00149855 rs201509993
-- SLC12A8 525 A/T 0.000300522 rs541726558
-- SLC12A8 541 K/R 0.0564442 rs6773138
-- SLC12A8 606 L/V 0.0013117 rs35341788
-- SLC12A8 633 R/Q 0.000128349 rs200020788
-- SLC12A8 637 G/R 0.000385069 rs201636734
-- SLC12A8 650 R/Q 0.000216539 rs367619170
-- SLC12A8 664 R/Q 0.547976 rs2981482
-- SLC12A8 665 S/C 0.000742753 rs200353603
-- SLC12A8 698 R/C 0.000153115 rs765064853

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
No data

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
No data