STT3B (STT3 oligosaccharyltransferase complex catalytic subunit B) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: STT3B (STT3 oligosaccharyltransferase complex catalytic subunit B) Homo sapiens
Analyze
Symbol: STT3B
Name: STT3 oligosaccharyltransferase complex catalytic subunit B
RGD ID: 1606939
HGNC Page HGNC:30611
Description: Enables dolichyl-diphosphooligosaccharide-protein glycotransferase activity. Involved in protein catabolic process; protein modification process; and response to unfolded protein. Located in endoplasmic reticulum. Part of protein-containing complex. Is active in oligosaccharyltransferase complex. Implicated in congenital disorder of glycosylation Ix.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDG1X; dolichyl-diphosphooligosaccharide protein glycotransferase; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B; FLJ90106; homolog of yeast STT3; oligosaccharyl transferase subunit STT3B; SIMP; source of immunodominant MHC associated peptides; source of immunodominant MHC-associated peptides homolog; STT3, subunit of the oligosaccharyltransferase complex, homolog B; STT3-B; STT3B, catalytic subunit of the oligosaccharyltransferase complex; STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38331,532,925 - 31,637,616 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl331,532,638 - 31,637,616 (+)EnsemblGRCh38hg38GRCh38
GRCh37331,574,417 - 31,679,108 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36331,549,495 - 31,652,560 (+)NCBINCBI36Build 36hg18NCBI36
Celera331,512,441 - 31,615,151 (+)NCBICelera
Cytogenetic Map3p23NCBI
HuRef331,516,641 - 31,619,695 (+)NCBIHuRef
CHM1_1331,524,549 - 31,627,598 (+)NCBICHM1_1
T2T-CHM13v2.0331,535,391 - 31,640,070 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12439619   PMID:12477932   PMID:12887896   PMID:14702039   PMID:15489334   PMID:15835887   PMID:16303743   PMID:17081983   PMID:18029348   PMID:19167329   PMID:19946888   PMID:20301507  
PMID:20379614   PMID:21857022   PMID:21873635   PMID:21903422   PMID:22266900   PMID:22268729   PMID:22467853   PMID:22607976   PMID:22810586   PMID:22939629   PMID:23284306   PMID:23530066  
PMID:23606741   PMID:23842455   PMID:24347629   PMID:25029371   PMID:25737280   PMID:25921289   PMID:26344197   PMID:26472760   PMID:26496610   PMID:26638075   PMID:27173435   PMID:27342126  
PMID:27974301   PMID:28246125   PMID:28366632   PMID:28380382   PMID:28675297   PMID:28692057   PMID:28720733   PMID:29117863   PMID:29180619   PMID:29282902   PMID:29395067   PMID:29507755  
PMID:29564676   PMID:29568061   PMID:30021884   PMID:30181269   PMID:30194290   PMID:30639242   PMID:30804502   PMID:30833792   PMID:30948266   PMID:31056421   PMID:31073040   PMID:31091453  
PMID:31177093   PMID:31266804   PMID:31296534   PMID:31527615   PMID:31732153   PMID:31831667   PMID:31871319   PMID:31950832   PMID:32176628   PMID:32296183   PMID:32409323   PMID:32423001  
PMID:32694731   PMID:32707033   PMID:32788342   PMID:32807901   PMID:32877691   PMID:32913203   PMID:33005030   PMID:33060197   PMID:33144569   PMID:33263384   PMID:33462405   PMID:33545068  
PMID:33658012   PMID:33742100   PMID:33766124   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34186245   PMID:34226595   PMID:34432599   PMID:34578187   PMID:34597346   PMID:34672954  
PMID:34709727   PMID:34732716   PMID:34857952   PMID:34917906   PMID:35007762   PMID:35013556   PMID:35063084   PMID:35256949   PMID:35271311   PMID:35337019   PMID:35384245   PMID:35439318  
PMID:35509820   PMID:35545034   PMID:35696571   PMID:35944360   PMID:36139350   PMID:36168628   PMID:36180527   PMID:36215168   PMID:36232890   PMID:36526897   PMID:36574265   PMID:36590901  
PMID:36604567   PMID:36610398   PMID:36736316   PMID:36779763   PMID:37774976   PMID:37827155   PMID:37931956  


Genomics

Comparative Map Data
STT3B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38331,532,925 - 31,637,616 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl331,532,638 - 31,637,616 (+)EnsemblGRCh38hg38GRCh38
GRCh37331,574,417 - 31,679,108 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36331,549,495 - 31,652,560 (+)NCBINCBI36Build 36hg18NCBI36
Celera331,512,441 - 31,615,151 (+)NCBICelera
Cytogenetic Map3p23NCBI
HuRef331,516,641 - 31,619,695 (+)NCBIHuRef
CHM1_1331,524,549 - 31,627,598 (+)NCBICHM1_1
T2T-CHM13v2.0331,535,391 - 31,640,070 (+)NCBIT2T-CHM13v2.0
Stt3b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399115,071,538 - 115,139,536 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9115,071,649 - 115,139,489 (-)EnsemblGRCm39 Ensembl
GRCm389115,242,470 - 115,310,468 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9115,242,581 - 115,310,421 (-)EnsemblGRCm38mm10GRCm38
MGSCv379115,151,699 - 115,219,539 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369115,091,279 - 115,159,119 (-)NCBIMGSCv36mm8
Celera9115,715,885 - 115,785,239 (-)NCBICelera
Cytogenetic Map9F3NCBI
cM Map967.71NCBI
Stt3b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88123,806,836 - 123,872,179 (-)NCBIGRCr8
mRatBN7.28114,928,678 - 114,994,027 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8114,917,824 - 114,994,028 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8120,542,918 - 120,608,216 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08118,741,936 - 118,807,243 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08116,585,033 - 116,650,343 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08123,303,910 - 123,370,729 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8123,293,057 - 123,371,257 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08122,604,518 - 122,668,754 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48119,680,704 - 119,747,784 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18119,690,013 - 119,767,827 (-)NCBI
Celera8114,167,159 - 114,232,088 (-)NCBICelera
Cytogenetic Map8q32NCBI
Stt3b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543022,986,762 - 23,069,383 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543022,986,673 - 23,070,923 (+)NCBIChiLan1.0ChiLan1.0
STT3B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2231,507,762 - 31,616,657 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1331,512,526 - 31,621,423 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0331,454,297 - 31,557,189 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1331,771,271 - 31,873,389 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl331,771,265 - 31,873,381 (+)Ensemblpanpan1.1panPan2
STT3B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12313,036,301 - 13,143,629 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2313,037,722 - 13,143,743 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2313,010,181 - 13,116,925 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02313,327,482 - 13,434,395 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2313,327,493 - 13,434,763 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12313,127,716 - 13,234,421 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02313,271,517 - 13,378,344 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02313,283,996 - 13,390,719 (-)NCBIUU_Cfam_GSD_1.0
Stt3b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118189,059,062 - 189,150,368 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647322,197,321 - 22,288,941 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647322,197,625 - 22,288,941 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STT3B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1317,534,171 - 17,635,035 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11317,532,341 - 17,635,039 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21319,678,088 - 19,778,904 (+)NCBISscrofa10.2Sscrofa10.2susScr3
STT3B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11576,060,670 - 76,165,415 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1576,060,406 - 76,165,468 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604149,405,224 - 49,509,806 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Stt3b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247889,615,658 - 9,725,240 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247889,614,932 - 9,726,773 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in STT3B
143 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_178862.3(STT3B):c.1539+20G>T single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000088685] Chr3:31622328 [GRCh38]
Chr3:31663820 [GRCh37]
Chr3:3p23		 pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2		 pathogenic
NM_178862.2(STT3B):c.314+14436G>T single nucleotide variant Lung cancer [RCV000093531] Chr3:31547748 [GRCh38]
Chr3:31589240 [GRCh37]
Chr3:3p23		 uncertain significance
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1 copy number loss See cases [RCV000240426] Chr3:29689082..34233218 [GRCh37]
Chr3:3p24.1-22.3		 pathogenic
NM_178862.3(STT3B):c.141C>T (p.Gly47=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000872504]|not provided [RCV003437318]|not specified [RCV000602765] Chr3:31533139 [GRCh38]
Chr3:31574631 [GRCh37]
Chr3:3p23		 benign|likely benign
NM_178862.3(STT3B):c.619A>G (p.Ile207Val) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000626086] Chr3:31580004 [GRCh38]
Chr3:31621496 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.893A>G (p.Tyr298Cys) single nucleotide variant not provided [RCV000731276] Chr3:31615120 [GRCh38]
Chr3:31656612 [GRCh37]
Chr3:3p23		 uncertain significance
GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)x1 copy number loss See cases [RCV000447472] Chr3:25045365..32691140 [GRCh37]
Chr3:3p24.2-22.3		 likely pathogenic
NM_178862.3(STT3B):c.315-4C>G single nucleotide variant not provided [RCV000910464]|not specified [RCV000434230] Chr3:31576392 [GRCh38]
Chr3:31617884 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.778-17C>A single nucleotide variant STT3B-congenital disorder of glycosylation [RCV001514899]|not specified [RCV000437930] Chr3:31600343 [GRCh38]
Chr3:31641835 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.2073+14T>C single nucleotide variant STT3B-congenital disorder of glycosylation [RCV001522528]|not specified [RCV000437976] Chr3:31626141 [GRCh38]
Chr3:31667633 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.927T>G (p.Pro309=) single nucleotide variant not provided [RCV000940181]|not specified [RCV000445129] Chr3:31615154 [GRCh38]
Chr3:31656646 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1398A>G (p.Pro466=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002522371]|not specified [RCV000421039] Chr3:31622167 [GRCh38]
Chr3:31663659 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1764C>T (p.Tyr588=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000651960]|not specified [RCV000421060] Chr3:31624950 [GRCh38]
Chr3:31666442 [GRCh37]
Chr3:3p23		 benign|likely benign
NM_178862.3(STT3B):c.2073+13A>G single nucleotide variant not specified [RCV000424114] Chr3:31626140 [GRCh38]
Chr3:31667632 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.747A>G (p.Thr249=) single nucleotide variant not specified [RCV000431617] Chr3:31596833 [GRCh38]
Chr3:31638325 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1172+15A>G single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002063588]|not specified [RCV000442213] Chr3:31618003 [GRCh38]
Chr3:31659495 [GRCh37]
Chr3:3p23		 benign|likely benign
NM_178862.3(STT3B):c.477A>G (p.Thr159=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000871128]|not specified [RCV000435378] Chr3:31579862 [GRCh38]
Chr3:31621354 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.777+7T>G single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000550122]|STT3B-related condition [RCV003922737]|not specified [RCV000419623] Chr3:31596870 [GRCh38]
Chr3:31638362 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.976+14A>G single nucleotide variant not specified [RCV000425898] Chr3:31615217 [GRCh38]
Chr3:31656709 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1900-17T>G single nucleotide variant not specified [RCV000429640] Chr3:31625937 [GRCh38]
Chr3:31667429 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.2401-17G>T single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002062784]|not specified [RCV000429765] Chr3:31635967 [GRCh38]
Chr3:31677459 [GRCh37]
Chr3:3p23		 benign|likely benign
NM_178862.3(STT3B):c.1869T>C (p.Asn623=) single nucleotide variant not specified [RCV000436941] Chr3:31625055 [GRCh38]
Chr3:31666547 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.2322A>G (p.Ala774=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000871995]|STT3B-related condition [RCV003970212]|not specified [RCV000444139] Chr3:31633069 [GRCh38]
Chr3:31674561 [GRCh37]
Chr3:3p23		 benign|likely benign
NM_178862.3(STT3B):c.1824C>T (p.Gly608=) single nucleotide variant not specified [RCV000444688] Chr3:31625010 [GRCh38]
Chr3:31666502 [GRCh37]
Chr3:3p23		 likely benign
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
NM_178862.3(STT3B):c.1649T>G (p.Phe550Cys) single nucleotide variant not specified [RCV004328951] Chr3:31623783 [GRCh38]
Chr3:31665275 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.2437C>G (p.Leu813Val) single nucleotide variant not specified [RCV004316700] Chr3:31636020 [GRCh38]
Chr3:31677512 [GRCh37]
Chr3:3p23		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_178862.3(STT3B):c.372T>C (p.Asn124=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000872906]|not provided [RCV002263832]|not specified [RCV000615337] Chr3:31576453 [GRCh38]
Chr3:31617945 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.2142T>C (p.Asn714=) single nucleotide variant not specified [RCV000615881] Chr3:31629366 [GRCh38]
Chr3:31670858 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1728-18T>C single nucleotide variant not specified [RCV000615527] Chr3:31624896 [GRCh38]
Chr3:31666388 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1617C>T (p.Val539=) single nucleotide variant not specified [RCV000612882] Chr3:31623751 [GRCh38]
Chr3:31665243 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.45C>T (p.Leu15=) single nucleotide variant not specified [RCV000613152] Chr3:31533043 [GRCh38]
Chr3:31574535 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.2406C>A (p.Thr802=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000870945]|not specified [RCV000603300] Chr3:31635989 [GRCh38]
Chr3:31677481 [GRCh37]
Chr3:3p23		 benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 copy number gain not provided [RCV000682249] Chr3:16923595..45249923 [GRCh37]
Chr3:3p24.3-21.31		 pathogenic
NM_178862.3(STT3B):c.895A>G (p.Ile299Val) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000709840]|not specified [RCV004026785] Chr3:31615122 [GRCh38]
Chr3:31656614 [GRCh37]
Chr3:3p23		 likely benign|uncertain significance|not provided
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_178862.3(STT3B):c.2401-44A>G single nucleotide variant not provided [RCV001667266] Chr3:31635940 [GRCh38]
Chr3:31677432 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.1172+274T>C single nucleotide variant not provided [RCV001681167] Chr3:31618262 [GRCh38]
Chr3:31659754 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.1328-72_1328-71insGTGGT microsatellite not provided [RCV001681662] Chr3:31622023..31622024 [GRCh38]
Chr3:31663515..31663516 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.1123+125_1123+126dup duplication not provided [RCV001645568] Chr3:31617186..31617187 [GRCh38]
Chr3:31658678..31658679 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.1071A>G (p.Val357=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000884242] Chr3:31617023 [GRCh38]
Chr3:31658515 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1900-9A>T single nucleotide variant not provided [RCV000966316] Chr3:31625945 [GRCh38]
Chr3:31667437 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.171G>A (p.Gly57=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000904693] Chr3:31533169 [GRCh38]
Chr3:31574661 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.915A>C (p.Ser305=) single nucleotide variant not provided [RCV000925425] Chr3:31615142 [GRCh38]
Chr3:31656634 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.758G>C (p.Cys253Ser) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000807197]|not specified [RCV004028611] Chr3:31596844 [GRCh38]
Chr3:31638336 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1866T>C (p.Asp622=) single nucleotide variant not provided [RCV000898021] Chr3:31625052 [GRCh38]
Chr3:31666544 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.235C>T (p.Leu79=) single nucleotide variant not provided [RCV000886476] Chr3:31533233 [GRCh38]
Chr3:31574725 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.87C>T (p.Ser29=) single nucleotide variant not provided [RCV000875424] Chr3:31533085 [GRCh38]
Chr3:31574577 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.2283A>G (p.Thr761=) single nucleotide variant not provided [RCV000925709] Chr3:31633030 [GRCh38]
Chr3:31674522 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.657C>T (p.Ser219=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV001448353] Chr3:31580042 [GRCh38]
Chr3:31621534 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1900-6C>T single nucleotide variant not provided [RCV000876077] Chr3:31625948 [GRCh38]
Chr3:31667440 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1293C>T (p.Phe431=) single nucleotide variant not provided [RCV000939392] Chr3:31619796 [GRCh38]
Chr3:31661288 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.2175T>C (p.Phe725=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003583177]|not provided [RCV000841930] Chr3:31629399 [GRCh38]
Chr3:31670891 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.136G>A (p.Gly46Ser) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000871469] Chr3:31533134 [GRCh38]
Chr3:31574626 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.2366A>G (p.Asn789Ser) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000811239]|not specified [RCV004028721] Chr3:31633113 [GRCh38]
Chr3:31674605 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1899+15_1899+16del deletion STT3B-congenital disorder of glycosylation [RCV002067450]|not provided [RCV000827379] Chr3:31625099..31625100 [GRCh38]
Chr3:31666591..31666592 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.2320G>A (p.Ala774Thr) single nucleotide variant not specified [RCV004297990] Chr3:31633067 [GRCh38]
Chr3:31674559 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.2072G>A (p.Arg691Gln) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV001247933] Chr3:31626126 [GRCh38]
Chr3:31667618 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.2188-265T>G single nucleotide variant not provided [RCV001714850] Chr3:31632670 [GRCh38]
Chr3:31674162 [GRCh37]
Chr3:3p23		 benign
NC_000003.12:g.31532326C>T single nucleotide variant not provided [RCV001612460] Chr3:31532326 [GRCh38]
Chr3:31573818 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.424-73_424-72insAAA insertion not provided [RCV001661146] Chr3:31579736..31579737 [GRCh38]
Chr3:31621228..31621229 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.1123+126dup duplication not provided [RCV001667362] Chr3:31617186..31617187 [GRCh38]
Chr3:31658678..31658679 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.2400+129G>A single nucleotide variant not provided [RCV001656882] Chr3:31633276 [GRCh38]
Chr3:31674768 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.777+39G>C single nucleotide variant not provided [RCV001696470] Chr3:31596902 [GRCh38]
Chr3:31638394 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.1327+10G>A single nucleotide variant not provided [RCV000936403] Chr3:31619840 [GRCh38]
Chr3:31661332 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.819T>A (p.Ile273=) single nucleotide variant not provided [RCV000892028] Chr3:31600401 [GRCh38]
Chr3:31641893 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.424-4C>T single nucleotide variant not provided [RCV000953195] Chr3:31579805 [GRCh38]
Chr3:31621297 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.15G>C (p.Ser5=) single nucleotide variant not provided [RCV000906387] Chr3:31533013 [GRCh38]
Chr3:31574505 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1900-10A>T single nucleotide variant not provided [RCV000966315] Chr3:31625944 [GRCh38]
Chr3:31667436 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.314+9C>T single nucleotide variant STT3B-congenital disorder of glycosylation [RCV000902446] Chr3:31533321 [GRCh38]
Chr3:31574813 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1545T>C (p.Gly515=) single nucleotide variant not provided [RCV000890889] Chr3:31623679 [GRCh38]
Chr3:31665171 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.424-109del deletion not provided [RCV001717051] Chr3:31579700 [GRCh38]
Chr3:31621192 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.1327+21A>C single nucleotide variant not provided [RCV001619401] Chr3:31619851 [GRCh38]
Chr3:31661343 [GRCh37]
Chr3:3p23		 benign
NC_000003.12:g.31532766A>C single nucleotide variant not provided [RCV001714373] Chr3:31532766 [GRCh38]
Chr3:31574258 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.2188-250del deletion not provided [RCV001638269] Chr3:31632670 [GRCh38]
Chr3:31674162 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.424-287A>G single nucleotide variant not provided [RCV001613908] Chr3:31579522 [GRCh38]
Chr3:31621014 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.877+86A>T single nucleotide variant not provided [RCV001636192] Chr3:31600545 [GRCh38]
Chr3:31642037 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.315-192G>T single nucleotide variant not provided [RCV001714769] Chr3:31576204 [GRCh38]
Chr3:31617696 [GRCh37]
Chr3:3p23		 benign
NC_000003.12:g.31532402G>T single nucleotide variant not provided [RCV001645714] Chr3:31532402 [GRCh38]
Chr3:31573894 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.1172+301_1172+302insCCTAACATA insertion not provided [RCV001611466] Chr3:31618287..31618288 [GRCh38]
Chr3:31659779..31659780 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.315-163G>A single nucleotide variant not provided [RCV001667283] Chr3:31576233 [GRCh38]
Chr3:31617725 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.1728-140del deletion not provided [RCV001690542] Chr3:31624765 [GRCh38]
Chr3:31666257 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.1342A>G (p.Ile448Val) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV001053313] Chr3:31622111 [GRCh38]
Chr3:31663603 [GRCh37]
Chr3:3p23		 uncertain significance
NC_000003.12:g.31532902TCC[9] microsatellite not provided [RCV001641692] Chr3:31532901..31532902 [GRCh38]
Chr3:31574393..31574394 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.1327+99A>G single nucleotide variant not provided [RCV001766251] Chr3:31619929 [GRCh38]
Chr3:31661421 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.309C>T (p.Asp103=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV001422291] Chr3:31533307 [GRCh38]
Chr3:31574799 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.11C>T (p.Pro4Leu) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV001346781] Chr3:31533009 [GRCh38]
Chr3:31574501 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1335A>G (p.Leu445=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV001326996] Chr3:31622104 [GRCh38]
Chr3:31663596 [GRCh37]
Chr3:3p23		 likely benign|uncertain significance
NM_178862.3(STT3B):c.1900-155A>G single nucleotide variant not provided [RCV001539396] Chr3:31625799 [GRCh38]
Chr3:31667291 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.1172+9A>C single nucleotide variant STT3B-congenital disorder of glycosylation [RCV001432855] Chr3:31617997 [GRCh38]
Chr3:31659489 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.2188-251_2188-250del deletion not provided [RCV001540965] Chr3:31632670..31632671 [GRCh38]
Chr3:31674162..31674163 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.2401-81T>G single nucleotide variant not provided [RCV001617604] Chr3:31635903 [GRCh38]
Chr3:31677395 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.390A>G (p.Ala130=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV001476919] Chr3:31576471 [GRCh38]
Chr3:31617963 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.314+252A>G single nucleotide variant not provided [RCV001618746] Chr3:31533564 [GRCh38]
Chr3:31575056 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.1170T>C (p.Thr390=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV001439336] Chr3:31617986 [GRCh38]
Chr3:31659478 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1102G>T (p.Val368Phe) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003105050] Chr3:31617054 [GRCh38]
Chr3:31658546 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.*186G>A single nucleotide variant not provided [RCV001769546] Chr3:31636250 [GRCh38]
Chr3:31677742 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1728-49C>A single nucleotide variant not provided [RCV001769701] Chr3:31624865 [GRCh38]
Chr3:31666357 [GRCh37]
Chr3:3p23		 likely benign
NC_000003.12:g.31532164C>T single nucleotide variant not provided [RCV001769880] Chr3:31532164 [GRCh38]
Chr3:31573656 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1123+207C>G single nucleotide variant not provided [RCV001769904] Chr3:31617282 [GRCh38]
Chr3:31658774 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.2074-112C>T single nucleotide variant not provided [RCV001786260] Chr3:31629186 [GRCh38]
Chr3:31670678 [GRCh37]
Chr3:3p23		 likely benign
NC_000003.12:g.31532647C>T single nucleotide variant not provided [RCV001753123] Chr3:31532647 [GRCh38]
Chr3:31574139 [GRCh37]
Chr3:3p23		 likely benign
NC_000003.12:g.31532575T>C single nucleotide variant not provided [RCV001786863] Chr3:31532575 [GRCh38]
Chr3:31574067 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.424-155T>G single nucleotide variant not provided [RCV001787563] Chr3:31579654 [GRCh38]
Chr3:31621146 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1727+216G>A single nucleotide variant not provided [RCV001776552] Chr3:31624077 [GRCh38]
Chr3:31665569 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1900-138A>G single nucleotide variant not provided [RCV001753124] Chr3:31625816 [GRCh38]
Chr3:31667308 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1328-113C>T single nucleotide variant not provided [RCV001752943] Chr3:31621984 [GRCh38]
Chr3:31663476 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.712-308T>C single nucleotide variant not provided [RCV001753060] Chr3:31596490 [GRCh38]
Chr3:31637982 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.490G>A (p.Val164Ile) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV001927278] Chr3:31579875 [GRCh38]
Chr3:31621367 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1948A>G (p.Arg650Gly) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV001912432] Chr3:31626002 [GRCh38]
Chr3:31667494 [GRCh37]
Chr3:3p23		 uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140) copy number loss not specified [RCV002053334] Chr3:25045365..32691140 [GRCh37]
Chr3:3p24.2-22.3		 likely pathogenic
NM_178862.3(STT3B):c.887C>G (p.Thr296Ser) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002050047] Chr3:31615114 [GRCh38]
Chr3:31656606 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.307G>T (p.Asp103Tyr) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV001866368] Chr3:31533305 [GRCh38]
Chr3:31574797 [GRCh37]
Chr3:3p23		 uncertain significance
NC_000003.11:g.(?_16710965)_(41275270_?)del deletion not provided [RCV001958625] Chr3:16710965..41275270 [GRCh37]
Chr3:3p24.3-22.1		 pathogenic
NM_178862.3(STT3B):c.878-15A>G single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002149167] Chr3:31615090 [GRCh38]
Chr3:31656582 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.2412G>A (p.Arg804=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002207129] Chr3:31635995 [GRCh38]
Chr3:31677487 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.870C>G (p.Val290=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002073930] Chr3:31600452 [GRCh38]
Chr3:31641944 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.153G>C (p.Pro51=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002093786] Chr3:31533151 [GRCh38]
Chr3:31574643 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.777+11A>G single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002174877] Chr3:31596874 [GRCh38]
Chr3:31638366 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.424-5C>T single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002213347] Chr3:31579804 [GRCh38]
Chr3:31621296 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.976+7A>T single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002152562] Chr3:31615210 [GRCh38]
Chr3:31656702 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.765C>G (p.Ser255=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002202961] Chr3:31596851 [GRCh38]
Chr3:31638343 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.264C>T (p.Arg88=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002178171] Chr3:31533262 [GRCh38]
Chr3:31574754 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.225C>T (p.Thr75=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002101078] Chr3:31533223 [GRCh38]
Chr3:31574715 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1725T>C (p.Asp575=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002120494] Chr3:31623859 [GRCh38]
Chr3:31665351 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.38C>G (p.Ser13Trp) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002248435] Chr3:31533036 [GRCh38]
Chr3:31574528 [GRCh37]
Chr3:3p23		 pathogenic
NM_178862.3(STT3B):c.1123+126del deletion not provided [RCV002292010] Chr3:31617187 [GRCh38]
Chr3:31658679 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.505G>A (p.Val169Ile) single nucleotide variant not specified [RCV004246802] Chr3:31579890 [GRCh38]
Chr3:31621382 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1400T>C (p.Val467Ala) single nucleotide variant not specified [RCV004146079] Chr3:31622169 [GRCh38]
Chr3:31663661 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1900-11A>T single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003076913] Chr3:31625943 [GRCh38]
Chr3:31667435 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1727+15C>T single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002994466] Chr3:31623876 [GRCh38]
Chr3:31665368 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.598T>C (p.Leu200=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002593186] Chr3:31579983 [GRCh38]
Chr3:31621475 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1900-12T>A single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002592036] Chr3:31625942 [GRCh38]
Chr3:31667434 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.976+5G>T single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002760516] Chr3:31615208 [GRCh38]
Chr3:31656700 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1837G>A (p.Gly613Arg) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003035651] Chr3:31625023 [GRCh38]
Chr3:31666515 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.2071C>T (p.Arg691Trp) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002846419] Chr3:31626125 [GRCh38]
Chr3:31667617 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.32A>G (p.His11Arg) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002975893] Chr3:31533030 [GRCh38]
Chr3:31574522 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1073C>T (p.Ser358Leu) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002909655] Chr3:31617025 [GRCh38]
Chr3:31658517 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.505G>C (p.Val169Leu) single nucleotide variant not specified [RCV004150197] Chr3:31579890 [GRCh38]
Chr3:31621382 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1562C>T (p.Ala521Val) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003083513]|not specified [RCV004071671] Chr3:31623696 [GRCh38]
Chr3:31665188 [GRCh37]
Chr3:3p23		 likely benign|uncertain significance
NM_178862.3(STT3B):c.2401-5dup duplication STT3B-congenital disorder of glycosylation [RCV002967319] Chr3:31635972..31635973 [GRCh38]
Chr3:31677464..31677465 [GRCh37]
Chr3:3p23		 benign
NM_178862.3(STT3B):c.812A>G (p.Asn271Ser) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003088091] Chr3:31600394 [GRCh38]
Chr3:31641886 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.56C>T (p.Pro19Leu) single nucleotide variant not specified [RCV004102703] Chr3:31533054 [GRCh38]
Chr3:31574546 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.673A>G (p.Ile225Val) single nucleotide variant not specified [RCV004156802] Chr3:31580058 [GRCh38]
Chr3:31621550 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1483G>T (p.Val495Leu) single nucleotide variant not specified [RCV004125667] Chr3:31622252 [GRCh38]
Chr3:31663744 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1533T>C (p.Tyr511=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003086177] Chr3:31622302 [GRCh38]
Chr3:31663794 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1014G>T (p.Gln338His) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003046881] Chr3:31616966 [GRCh38]
Chr3:31658458 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.525A>G (p.Pro175=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV002629566] Chr3:31579910 [GRCh38]
Chr3:31621402 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1930G>T (p.Ala644Ser) single nucleotide variant not specified [RCV004199376] Chr3:31625984 [GRCh38]
Chr3:31667476 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.2361C>A (p.Val787=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003071920] Chr3:31633108 [GRCh38]
Chr3:31674600 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.721G>A (p.Val241Ile) single nucleotide variant not specified [RCV004334971] Chr3:31596807 [GRCh38]
Chr3:31638299 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.249C>T (p.Ala83=) single nucleotide variant not provided [RCV003437741] Chr3:31533247 [GRCh38]
Chr3:31574739 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.2401-17_2401-16del microsatellite STT3B-congenital disorder of glycosylation [RCV003743439] Chr3:31635964..31635965 [GRCh38]
Chr3:31677456..31677457 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1612A>G (p.Ile538Val) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003745768] Chr3:31623746 [GRCh38]
Chr3:31665238 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.201G>C (p.Gly67=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003743507] Chr3:31533199 [GRCh38]
Chr3:31574691 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.387A>C (p.Arg129Ser) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003745847] Chr3:31576468 [GRCh38]
Chr3:31617960 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.13T>C (p.Ser5Pro) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003744265] Chr3:31533011 [GRCh38]
Chr3:31574503 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.33C>T (p.His11=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003583412] Chr3:31533031 [GRCh38]
Chr3:31574523 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.778-3T>C single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003745186] Chr3:31600357 [GRCh38]
Chr3:31641849 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1263T>G (p.Leu421=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003583917] Chr3:31619766 [GRCh38]
Chr3:31661258 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.2349C>T (p.His783=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003745295] Chr3:31633096 [GRCh38]
Chr3:31674588 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.778-12C>A single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003745770] Chr3:31600348 [GRCh38]
Chr3:31641840 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.601G>A (p.Ala201Thr) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003583248] Chr3:31579986 [GRCh38]
Chr3:31621478 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.2378A>C (p.Lys793Thr) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003583446] Chr3:31633125 [GRCh38]
Chr3:31674617 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.2349C>A (p.His783Gln) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003583485] Chr3:31633096 [GRCh38]
Chr3:31674588 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.448G>T (p.Ala150Ser) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003583765] Chr3:31579833 [GRCh38]
Chr3:31621325 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1638A>G (p.Leu546=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003583369] Chr3:31623772 [GRCh38]
Chr3:31665264 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.496A>G (p.Ile166Val) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003871353] Chr3:31579881 [GRCh38]
Chr3:31621373 [GRCh37]
Chr3:3p23		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_178862.3(STT3B):c.1500T>C (p.Asp500=) single nucleotide variant STT3B-congenital disorder of glycosylation [RCV003746005] Chr3:31622269 [GRCh38]
Chr3:31663761 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.-7G>C single nucleotide variant STT3B-related condition [RCV003961637] Chr3:31532992 [GRCh38]
Chr3:31574484 [GRCh37]
Chr3:3p23		 likely benign
NM_178862.3(STT3B):c.1942A>G (p.Ile648Val) single nucleotide variant not specified [RCV004458570] Chr3:31625996 [GRCh38]
Chr3:31667488 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.2092C>T (p.Pro698Ser) single nucleotide variant not specified [RCV004458572] Chr3:31629316 [GRCh38]
Chr3:31670808 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.20C>T (p.Pro7Leu) single nucleotide variant not specified [RCV004458573] Chr3:31533018 [GRCh38]
Chr3:31574510 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.748A>G (p.Met250Val) single nucleotide variant not specified [RCV004458577] Chr3:31596834 [GRCh38]
Chr3:31638326 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.835G>T (p.Val279Leu) single nucleotide variant not specified [RCV004458578] Chr3:31600417 [GRCh38]
Chr3:31641909 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1225A>C (p.Thr409Pro) single nucleotide variant not specified [RCV004458568] Chr3:31619728 [GRCh38]
Chr3:31661220 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.565A>G (p.Thr189Ala) single nucleotide variant not specified [RCV004458575] Chr3:31579950 [GRCh38]
Chr3:31621442 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.347C>T (p.Ser116Phe) single nucleotide variant not specified [RCV004458574] Chr3:31576428 [GRCh38]
Chr3:31617920 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.860G>A (p.Ser287Asn) single nucleotide variant not specified [RCV004458579] Chr3:31600442 [GRCh38]
Chr3:31641934 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.106C>T (p.Pro36Ser) single nucleotide variant not specified [RCV004458567] Chr3:31533104 [GRCh38]
Chr3:31574596 [GRCh37]
Chr3:3p23		 uncertain significance
NM_178862.3(STT3B):c.1297A>C (p.Ile433Leu) single nucleotide variant not specified [RCV004458569] Chr3:31619800 [GRCh38]
Chr3:31661292 [GRCh37]
Chr3:3p23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:962
Count of miRNA genes:516
Interacting mature miRNAs:605
Transcripts:ENST00000295770, ENST00000423527, ENST00000436236, ENST00000453168, ENST00000462235, ENST00000463044, ENST00000488151
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH92648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37331,572,495 - 31,572,617UniSTSGRCh37
Build 36331,547,499 - 31,547,621RGDNCBI36
Cytogenetic Map3p23UniSTS
HuRef331,514,645 - 31,514,767UniSTS
GeneMap99-GB4 RH Map3112.09UniSTS
RH102149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37331,622,017 - 31,622,172UniSTSGRCh37
Build 36331,597,021 - 31,597,176RGDNCBI36
Celera331,560,025 - 31,560,180RGD
Cytogenetic Map3p23UniSTS
HuRef331,564,124 - 31,564,279UniSTS
GeneMap99-GB4 RH Map3112.09UniSTS
RH103263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37331,678,771 - 31,678,893UniSTSGRCh37
Build 36331,653,775 - 31,653,897RGDNCBI36
Celera331,616,366 - 31,616,488RGD
Cytogenetic Map3p23UniSTS
HuRef331,620,910 - 31,621,032UniSTS
GeneMap99-GB4 RH Map3116.05UniSTS
SHGC-80983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37331,659,823 - 31,660,108UniSTSGRCh37
Build 36331,634,827 - 31,635,112RGDNCBI36
Celera331,597,415 - 31,597,700RGD
Cytogenetic Map3p23UniSTS
HuRef331,601,959 - 31,602,244UniSTS
TNG Radiation Hybrid Map320163.0UniSTS
STS-AA032256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37331,678,867 - 31,679,084UniSTSGRCh37
Build 36331,653,871 - 31,654,088RGDNCBI36
Celera331,616,462 - 31,616,679RGD
Cytogenetic Map3p23UniSTS
HuRef331,621,006 - 31,621,223UniSTS
GeneMap99-GB4 RH Map3116.88UniSTS
D10S16   No map positions available.
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2432 2766 1719 619 1816 461 4355 2113 3414 415 1449 1607 171 1203 2788 4
Low 7 225 7 5 134 4 1 84 319 4 11 6 4 1 1 2 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC104643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI914841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX799082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY074880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY015137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY039873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000295770   ⟹   ENSP00000295770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl331,532,925 - 31,637,616 (+)Ensembl
RefSeq Acc Id: ENST00000423527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl331,532,972 - 31,620,274 (+)Ensembl
RefSeq Acc Id: ENST00000436236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl331,596,806 - 31,620,296 (+)Ensembl
RefSeq Acc Id: ENST00000453168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl331,532,638 - 31,620,274 (+)Ensembl
RefSeq Acc Id: ENST00000462235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl331,533,625 - 31,617,005 (+)Ensembl
RefSeq Acc Id: ENST00000463044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl331,626,061 - 31,636,464 (+)Ensembl
RefSeq Acc Id: ENST00000488151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl331,629,251 - 31,636,045 (+)Ensembl
RefSeq Acc Id: NM_178862   ⟹   NP_849193
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38331,532,925 - 31,637,616 (+)NCBI
GRCh37331,574,130 - 31,677,556 (+)NCBI
Build 36331,549,495 - 31,652,560 (+)NCBI Archive
Celera331,512,441 - 31,615,151 (+)RGD
HuRef331,516,641 - 31,619,695 (+)ENTREZGENE
CHM1_1331,524,051 - 31,629,156 (+)NCBI
T2T-CHM13v2.0331,535,391 - 31,640,070 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533465   ⟹   XP_011531767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38331,532,925 - 31,621,883 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005858   ⟹   XP_016861347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38331,533,564 - 31,637,616 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054345639   ⟹   XP_054201614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0331,536,030 - 31,640,070 (+)NCBI
RefSeq Acc Id: XM_054345640   ⟹   XP_054201615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0331,535,391 - 31,624,322 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_849193   ⟸   NM_178862
- UniProtKB: Q96JZ4 (UniProtKB/Swiss-Prot),   Q96KY7 (UniProtKB/Swiss-Prot),   Q8TCJ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011531767   ⟸   XM_011533465
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016861347   ⟸   XM_017005858
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000295770   ⟸   ENST00000295770
RefSeq Acc Id: XP_054201615   ⟸   XM_054345640
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054201614   ⟸   XM_054345639
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TCJ2-F1-model_v2 AlphaFold Q8TCJ2 1-826 view protein structure

Promoters
RGD ID:6863878
Promoter ID:EPDNEW_H5104
Type:initiation region
Name:STT3B_1
Description:STT3B, catalytic subunit of the oligosaccharyltransferase complex
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5105  EPDNEW_H5106  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38331,532,586 - 31,532,646EPDNEW
RGD ID:6863880
Promoter ID:EPDNEW_H5105
Type:initiation region
Name:STT3B_3
Description:STT3B, catalytic subunit of the oligosaccharyltransferase complex
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5104  EPDNEW_H5106  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38331,532,705 - 31,532,765EPDNEW
RGD ID:6863882
Promoter ID:EPDNEW_H5106
Type:initiation region
Name:STT3B_2
Description:STT3B, catalytic subunit of the oligosaccharyltransferase complex
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5104  EPDNEW_H5105  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38331,532,977 - 31,533,037EPDNEW
RGD ID:6801741
Promoter ID:HG_KWN:44202
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000295770,   OTTHUMT00000341767,   OTTHUMT00000341768,   OTTHUMT00000341770
Position:
Human AssemblyChrPosition (strand)Source
Build 36331,548,486 - 31,550,112 (+)MPROMDB
RGD ID:6801707
Promoter ID:HG_KWN:44203
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   NB4
Transcripts:UC003CET.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36331,612,691 - 31,613,191 (+)MPROMDB
RGD ID:6801742
Promoter ID:HG_KWN:44204
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:OTTHUMT00000341771
Position:
Human AssemblyChrPosition (strand)Source
Build 36331,642,751 - 31,643,251 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30611 AgrOrtholog
COSMIC STT3B COSMIC
Ensembl Genes ENSG00000163527 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000295770 ENTREZGENE
  ENST00000295770.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.12610 UniProtKB/Swiss-Prot
GTEx ENSG00000163527 GTEx
HGNC ID HGNC:30611 ENTREZGENE
Human Proteome Map STT3B Human Proteome Map
InterPro Oligo_trans_STT3 UniProtKB/Swiss-Prot
  STT3-PglB_core UniProtKB/Swiss-Prot
  STT3_N UniProtKB/Swiss-Prot
KEGG Report hsa:201595 UniProtKB/Swiss-Prot
NCBI Gene 201595 ENTREZGENE
OMIM 608605 OMIM
PANTHER DOLICHYL-DIPHOSPHOOLIGOSACCHARIDE--PROTEIN GLYCOSYLTRANSFERASE SUBUNIT STT3B UniProtKB/Swiss-Prot
  PTHR13872 UniProtKB/Swiss-Prot
Pfam STT3 UniProtKB/Swiss-Prot
  STT3-PglB_core UniProtKB/Swiss-Prot
PharmGKB PA143485625 PharmGKB
UniProt Q8TCJ2 ENTREZGENE
  Q96JZ4 ENTREZGENE
  Q96KY7 ENTREZGENE
  STT3B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q96JZ4 UniProtKB/Swiss-Prot
  Q96KY7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 STT3B  STT3 oligosaccharyltransferase complex catalytic subunit B  STT3B  STT3B, catalytic subunit of the oligosaccharyltransferase complex  Symbol and/or name change 5135510 APPROVED
2016-02-18 STT3B  STT3B, catalytic subunit of the oligosaccharyltransferase complex  STT3B  STT3B, subunit of the oligosaccharyltransferase complex (catalytic)  Symbol and/or name change 5135510 APPROVED
2013-03-12 STT3B  STT3B, subunit of the oligosaccharyltransferase complex (catalytic)  STT3B  STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED