| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs28937593 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs121908616 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs121908617 |
C>A,T |
Pathogenic |
Synonymous variant, missense variant, coding sequence variant |
| rs121908618 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs121908619 |
C>A,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs121908620 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs267606732 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
| rs267606733 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
| rs267606734 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs267606735 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant |
| rs747171013 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant |
| rs769540174 |
G>-,GG |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs771866012 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
| rs1057520111 |
C>A,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs1316347883 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant |
| rs1416783446 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1554817549 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1589509307 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs1589509884 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1589510055 |
GAA>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q7LGC8 |
| Protein name |
Carbohydrate sulfotransferase 3 (EC 2.8.2.17) (EC 2.8.2.21) (Chondroitin 6-O-sulfotransferase 1) (C6ST-1) (Chondroitin 6-sulfotransferase) (C6ST) (Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0) (GST-0) |
| Protein function |
Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin (PubMed:15215498, PubMed:9714738, PubMed:98838 |
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00685 |
Sulfotransfer_1 |
132 → 452 |
Sulfotransferase domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Widely expressed in adult tissues. Expressed in heart, placenta, skeletal muscle and pancreas. Also expressed in various immune tissues such as spleen, lymph node, thymus and appendix. {ECO:0000269|PubMed:9714738}. |
| Sequence |
|
| Sequence length |
479 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Larsen syndrome |
Pathogenic |
rs1589510055 |
RCV000856732 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations |
Pathogenic; Likely pathogenic |
rs751470049, rs1003539672, rs2131776376, rs1564532377, rs2131774158, rs200988207, rs756133268, rs1840050989, rs2131776450, rs2131774841, rs1416637363, rs2131773933, rs1378815381, rs1216480002, rs746848315, rs1240422084, rs2494768200, rs121908616, rs267606734, rs121908617, rs121908618, rs1589509884, rs121908619, rs121908620, rs145538723, rs267606733, rs267606732, rs2494771271, rs2494763949, rs747171013, rs2494772065, rs865931042, rs28937593, rs2494767083, rs769540174, rs1316347883, rs771866012, rs1416783446, rs1564532120, rs1589509307, rs774599785, rs1840069879 View all (27 more) |
RCV001342483 RCV001806424 RCV001999870 RCV001942043 RCV001972856 RCV001889907 RCV001985149 RCV001935370 RCV002007657 RCV002227900 RCV002227910 RCV002249362 RCV002272806 RCV002274275 RCV003062276 RCV002802025 RCV002893921 RCV000006413 RCV000006414 RCV000006415 RCV000006416 RCV000006417 RCV000006418 RCV000006419 RCV000006421 RCV000006422 RCV000006423 RCV003000103 RCV003002771 RCV000210956 RCV003111525 RCV003111526 RCV003983771 RCV003990081 RCV004018289 RCV000576230 RCV000550153 RCV000528005 RCV000626195 RCV000779033 RCV001028033 RCV001213781 RCV001228470 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| CHST3-related disorder |
Likely benign; Conflicting classifications of pathogenicity |
rs2494770813, rs376107245, rs369055984 |
RCV003901409 RCV003913086 RCV003938446 |
| Larsen-like syndrome, B3GAT3 type |
Benign; Likely benign |
rs115579748, rs77124584 |
RCV002485155 RCV002488043 |
| Skeletal dysplasia |
Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance |
rs144287889, rs200249458, rs202242499, rs147804585, rs3740129, rs538907004, rs766145797, rs184330297, rs189173490, rs4148941, rs886047162, rs886047164, rs115617050, rs187692473, rs886047168, rs4148943, rs886047170, rs76808415, rs529839491, rs375960396, rs116289781, rs150678709, rs7072219, rs886047174, rs886047175, rs4148948, rs4148949, rs886047176, rs886047177, rs76750860, rs537395654, rs886047181, rs569758444, rs12267478, rs372116465, rs12418, rs886047185, rs371903365, rs886047159, rs777858428, rs367857089, rs150466838, rs75845750, rs77359818, rs80210009, rs886047160, rs113283291, rs145689465, rs181471425, rs186004202, rs886047165, rs148125052, rs886047167, rs4148942, rs4148945, rs562405951, rs376062544, rs115545740, rs145507314, rs886047179, rs185581202, rs4148950, rs575592721, rs113342172, rs1871450, rs77908871, rs56218110, rs192320139, rs114800040, rs551591119, rs559945769, rs552018988, rs886047182, rs886047184, rs140500823, rs4148907, rs146305825, rs202050418, rs144885813, rs543236876, rs116508900, rs76094341, rs539699501, rs886047163, rs555113303, rs573670057, rs116018996, rs190763138, rs373515105, rs886047169, rs80269486, rs76062174, rs886047171, rs4148947, rs17297481, rs886047172, rs115489836, rs886047178, rs12172746, rs577353046, rs12250549, rs886047180, rs151095465, rs754282055, rs730722, rs183731077, rs730721, rs773240688, rs886047158, rs199515173, rs368468468, rs776007496, rs778478785, rs140547825, rs762224143, rs184636110, rs140411224, rs114569872, rs886047161, rs886047166, rs116999241, rs4148944, rs60924680, rs768478124, rs377338550, rs4148946, rs114563668, rs116391584, rs143743853, rs114457501, rs74145519, rs545967470, rs4148951, rs200054447, rs79559408, rs1871451, rs731027, rs1871452, rs552578786, rs730720, rs4148953, rs886047183 View all (127 more) |
RCV000331444 RCV000271319 RCV000282169 RCV000281507 RCV000378701 RCV000314315 RCV000270679 RCV000293005 RCV000396843 RCV000274342 RCV000322503 RCV000295659 RCV000338969 RCV000397014 RCV000348288 RCV000301909 RCV000350226 RCV000290376 RCV000366854 RCV000269155 RCV000399197 RCV000320125 RCV000328493 RCV000285653 RCV000362904 RCV000322766 RCV000316899 RCV000309612 RCV000268194 RCV000316362 RCV000348363 RCV000293202 RCV000370401 RCV000352644 RCV000281430 RCV000263106 RCV000304537 RCV000265498 RCV000317897 RCV000402046 RCV000386934 RCV000400260 RCV000272819 RCV000322241 RCV000352703 RCV000398733 RCV000354504 RCV000286651 RCV000365445 RCV000346707 RCV000307071 RCV000367528 RCV000298967 RCV000362698 RCV000375155 RCV000303933 RCV000274227 RCV000285587 RCV000383468 RCV000325612 RCV000308510 RCV000395460 RCV000361298 RCV000281867 RCV000394205 RCV000277899 RCV000334855 RCV000259585 RCV000339417 RCV000349883 RCV000361117 RCV000287614 RCV000376236 RCV000344900 RCV000352682 RCV000404109 RCV000399138 RCV000310437 RCV000350278 RCV000390168 RCV000269811 RCV000317651 RCV000344330 RCV000384562 RCV000335240 RCV000265466 RCV000347579 RCV000397764 RCV000402223 RCV000307906 RCV000319737 RCV000342116 RCV000338125 RCV000349982 RCV000346599 RCV000353753 RCV000366963 RCV000287484 RCV000394345 RCV000284122 RCV000314215 RCV000293058 RCV000306489 RCV000381339 RCV000306223 RCV000327039 RCV000318192 RCV000339345 RCV000403876 RCV000285109 RCV000299800 RCV000326343 RCV000279348 RCV000388673 RCV000356106 RCV000331566 RCV000401498 RCV000314473 RCV000359859 RCV000353651 RCV000385090 RCV000283525 RCV000383875 RCV000354014 RCV000296431 RCV000267573 RCV000295614 RCV000370895 RCV000350467 RCV000293576 RCV000394342 RCV000376357 RCV000372109 RCV000386961 RCV000302743 RCV000310709 RCV000262991 RCV000297233 RCV000275845 RCV000397833 RCV000331224 RCV000350295 RCV000384029 |
| Spondyloepiphyseal dysplasia congenita |
Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance |
rs144287889, rs200249458, rs202242499, rs147804585, rs3740129, rs538907004, rs766145797, rs184330297, rs189173490, rs4148941, rs886047162, rs886047164, rs115617050, rs187692473, rs886047168, rs4148943, rs886047170, rs76808415, rs529839491, rs375960396, rs116289781, rs150678709, rs7072219, rs886047174, rs886047175, rs4148948, rs4148949, rs886047176, rs886047177, rs76750860, rs537395654, rs886047181, rs569758444, rs12267478, rs372116465, rs12418, rs886047185, rs371903365, rs886047159, rs777858428, rs367857089, rs150466838, rs75845750, rs77359818, rs80210009, rs886047160, rs113283291, rs145689465, rs181471425, rs186004202, rs886047165, rs148125052, rs886047167, rs4148942, rs4148945, rs562405951, rs376062544, rs115545740, rs145507314, rs886047179, rs185581202, rs4148950, rs575592721, rs113342172, rs1871450, rs77908871, rs56218110, rs192320139, rs114800040, rs551591119, rs559945769, rs552018988, rs886047182, rs886047184, rs140500823, rs4148907, rs146305825, rs202050418, rs144885813, rs543236876, rs116508900, rs76094341, rs539699501, rs886047163, rs555113303, rs573670057, rs116018996, rs190763138, rs373515105, rs886047169, rs80269486, rs76062174, rs886047171, rs4148947, rs17297481, rs886047172, rs115489836, rs886047178, rs12172746, rs577353046, rs12250549, rs886047180, rs151095465, rs754282055, rs730722, rs183731077, rs730721, rs773240688, rs886047158, rs199515173, rs368468468, rs776007496, rs778478785, rs140547825, rs762224143, rs184636110, rs140411224, rs114569872, rs886047161, rs886047166, rs116999241, rs4148944, rs60924680, rs768478124, rs377338550, rs4148946, rs114563668, rs116391584, rs143743853, rs114457501, rs74145519, rs545967470, rs4148951, rs200054447, rs79559408, rs1871451, rs731027, rs1871452, rs552578786, rs730720, rs4148953, rs886047183 View all (127 more) |
RCV000366162 RCV000365944 RCV000337241 RCV000397454 RCV000287863 RCV000275551 RCV000362849 RCV000296418 RCV000338628 RCV000314214 RCV000265095 RCV000317256 RCV000327083 RCV000281547 RCV000395531 RCV000360119 RCV000292986 RCV000325618 RCV000400871 RCV000328838 RCV000366461 RCV000294380 RCV000381955 RCV000395807 RCV000308187 RCV000265306 RCV000278037 RCV000395653 RCV000395650 RCV000262524 RCV000335472 RCV000320072 RCV000306441 RCV000294278 RCV000402515 RCV000285519 RCV000361562 RCV000357852 RCV000321314 RCV000288758 RCV000383546 RCV000307475 RCV000385924 RCV000267045 RCV000399744 RCV000400785 RCV000333672 RCV000290149 RCV000270927 RCV000312843 RCV000267046 RCV000276550 RCV000399162 RCV000271692 RCV000318256 RCV000339038 RCV000388579 RCV000320549 RCV000284374 RCV000312687 RCV000321323 RCV000357611 RCV000304292 RCV000404336 RCV000297009 RCV000363106 RCV000286195 RCV000378638 RCV000290293 RCV000395543 RCV000321642 RCV000382029 RCV000283944 RCV000401900 RCV000295439 RCV000385423 RCV000307004 RCV000393516 RCV000353671 RCV000336768 RCV000309616 RCV000262596 RCV000289384 RCV000330074 RCV000295517 RCV000357882 RCV000386974 RCV000307743 RCV000303443 RCV000309094 RCV000261025 RCV000286973 RCV000397065 RCV000405841 RCV000302226 RCV000343193 RCV000312295 RCV000291076 RCV000263280 RCV000341502 RCV000398008 RCV000337570 RCV000402600 RCV000295062 RCV000360925 RCV000363073 RCV000342589 RCV000403979 RCV000305301 RCV000377292 RCV000261024 RCV000268996 RCV000294538 RCV000316546 RCV000393600 RCV000276549 RCV000339457 RCV000274955 RCV000321264 RCV000400461 RCV000275439 RCV000323430 RCV000344547 RCV000263787 RCV000351318 RCV000259294 RCV000389670 RCV000311615 RCV000390597 RCV000332075 RCV000304251 RCV000271392 RCV000266948 RCV000330147 RCV000357570 RCV000346802 RCV000318114 RCV000300758 RCV000385513 RCV000313855 RCV000355694 RCV000311816 RCV000265056 |
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