SBNO2 (strawberry notch homolog 2) - Rat Genome Database

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Gene: SBNO2 (strawberry notch homolog 2) Homo sapiens
Analyze
Symbol: SBNO2
Name: strawberry notch homolog 2
RGD ID: 1316240
HGNC Page HGNC:29158
Description: Predicted to enable chromatin DNA binding activity and histone binding activity. Involved in several processes, including cellular response to interleukin-6; macrophage activation involved in immune response; and negative regulation of DNA-templated transcription. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ00173; KIAA0963; protein strawberry notch homolog 2; SNO; STNO; strawberry notch homolog 2 (Drosophila)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38191,107,638 - 1,174,268 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl191,107,637 - 1,174,268 (-)EnsemblGRCh38hg38GRCh38
GRCh37191,107,637 - 1,174,267 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36191,058,633 - 1,125,282 (-)NCBINCBI36Build 36hg18NCBI36
Build 34191,058,657 - 1,125,259NCBI
Celera191,040,607 - 1,110,334 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19881,117 - 952,119 (-)NCBIHuRef
CHM1_1191,107,226 - 1,174,370 (-)NCBICHM1_1
T2T-CHM13v2.0191,072,304 - 1,145,101 (-)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
cellular_component  (ND)
nucleus  (IBA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10231032   PMID:12477932   PMID:15342556   PMID:18025162   PMID:19068216   PMID:19760754   PMID:19913121   PMID:20379614   PMID:20628086   PMID:21102463   PMID:21873635   PMID:23128233  
PMID:23898208   PMID:25903009   PMID:28611215   PMID:29117863   PMID:31586073   PMID:32513696   PMID:33961781   PMID:35748872   PMID:36630607   PMID:36695974   PMID:36880596  


Genomics

Comparative Map Data
SBNO2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38191,107,638 - 1,174,268 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl191,107,637 - 1,174,268 (-)EnsemblGRCh38hg38GRCh38
GRCh37191,107,637 - 1,174,267 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36191,058,633 - 1,125,282 (-)NCBINCBI36Build 36hg18NCBI36
Build 34191,058,657 - 1,125,259NCBI
Celera191,040,607 - 1,110,334 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19881,117 - 952,119 (-)NCBIHuRef
CHM1_1191,107,226 - 1,174,370 (-)NCBICHM1_1
T2T-CHM13v2.0191,072,304 - 1,145,101 (-)NCBIT2T-CHM13v2.0
Sbno2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391079,892,826 - 79,941,942 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1079,892,826 - 79,941,405 (-)EnsemblGRCm39 Ensembl
GRCm381080,056,992 - 80,106,108 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1080,056,992 - 80,105,571 (-)EnsemblGRCm38mm10GRCm38
MGSCv371079,519,759 - 79,565,447 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361079,460,143 - 79,505,831 (-)NCBIMGSCv36mm8
Celera1081,071,823 - 81,117,539 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Sbno2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8710,256,221 - 10,300,175 (+)NCBIGRCr8
mRatBN7.279,605,572 - 9,649,529 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl79,605,627 - 9,649,527 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx712,488,594 - 12,532,391 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0714,363,932 - 14,407,729 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0712,225,039 - 12,268,858 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0712,471,805 - 12,515,700 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl712,471,824 - 12,518,654 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0712,641,918 - 12,685,803 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4711,117,835 - 11,161,863 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1711,117,834 - 11,161,848 (+)NCBI
Celera77,781,528 - 7,825,383 (+)NCBICelera
Cytogenetic Map7q11NCBI
Sbno2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554956,729,205 - 6,772,180 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554956,709,190 - 6,770,816 (+)NCBIChiLan1.0ChiLan1.0
SBNO2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2205,444,248 - 5,517,972 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1194,680,822 - 4,754,735 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0193,032 - 20,063 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1191,086,385 - 1,161,261 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl191,086,968 - 1,136,272 (-)Ensemblpanpan1.1panPan2
SBNO2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,592,901 - 57,640,047 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2057,267,724 - 57,640,750 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2057,395,483 - 57,442,346 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02058,337,100 - 58,381,683 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2058,335,473 - 58,381,838 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12057,392,724 - 57,437,602 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02057,870,302 - 57,917,096 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02058,073,231 - 58,120,125 (+)NCBIUU_Cfam_GSD_1.0
Sbno2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118217,279,177 - 217,325,535 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936588505,948 - 541,831 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936588509,244 - 556,424 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SBNO2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl277,275,013 - 77,320,367 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1277,278,059 - 77,320,371 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2277,677,279 - 77,693,056 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SBNO2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.16877,066 - 950,663 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl6877,049 - 931,433 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660817,915,879 - 7,990,649 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sbno2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248287,478,970 - 7,537,428 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248287,479,695 - 7,532,961 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SBNO2
117 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 copy number gain See cases [RCV000052877] Chr19:591812..1358152 [GRCh38]
Chr19:591812..1358151 [GRCh37]
Chr19:542812..1309151 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:1143045-1215323)x3 copy number gain See cases [RCV000054106] Chr19:1143045..1215323 [GRCh38]
Chr19:1143044..1215322 [GRCh37]
Chr19:1094044..1166322 [NCBI36]
Chr19:19p13.3		 uncertain significance
GRCh38/hg38 19p13.3(chr19:945098-1972299)x1 copy number loss See cases [RCV000053938] Chr19:945098..1972299 [GRCh38]
Chr19:945098..1972298 [GRCh37]
Chr19:896098..1923298 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:1156372-1228333)x1 copy number loss See cases [RCV000053939] Chr19:1156372..1228333 [GRCh38]
Chr19:1156371..1228332 [GRCh37]
Chr19:1107371..1179332 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 copy number loss See cases [RCV000053910] Chr19:259195..1351363 [GRCh38]
Chr19:259195..1351362 [GRCh37]
Chr19:210195..1302362 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_001100122.1(SBNO2):c.2858-283C>T single nucleotide variant Lung cancer [RCV000101046] Chr19:1110060 [GRCh38]
Chr19:1110059 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3		 likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:786550-1297500)x1 copy number loss See cases [RCV000136733] Chr19:786550..1297500 [GRCh38]
Chr19:786550..1297499 [GRCh37]
Chr19:737550..1248499 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:1144297-1211700)x3 copy number gain See cases [RCV000138017] Chr19:1144297..1211700 [GRCh38]
Chr19:1144296..1211699 [GRCh37]
Chr19:1095296..1162699 [NCBI36]
Chr19:19p13.3		 uncertain significance
GRCh38/hg38 19p13.3(chr19:1102684-1144297)x3 copy number gain See cases [RCV000140166] Chr19:1102684..1144297 [GRCh38]
Chr19:1102683..1144296 [GRCh37]
Chr19:1053683..1095296 [NCBI36]
Chr19:19p13.3		 benign
GRCh38/hg38 19p13.3(chr19:1121304-1161676)x3 copy number gain See cases [RCV000140173] Chr19:1121304..1161676 [GRCh38]
Chr19:1121303..1161675 [GRCh37]
Chr19:1072303..1112675 [NCBI36]
Chr19:19p13.3		 benign
GRCh38/hg38 19p13.3(chr19:1039558-1161676)x3 copy number gain See cases [RCV000140186] Chr19:1039558..1161676 [GRCh38]
Chr19:1039557..1161675 [GRCh37]
Chr19:990557..1112675 [NCBI36]
Chr19:19p13.3		 likely benign
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:1102684-1161676)x3 copy number gain See cases [RCV000141084] Chr19:1102684..1161676 [GRCh38]
Chr19:1102683..1161675 [GRCh37]
Chr19:1053683..1112675 [NCBI36]
Chr19:19p13.3		 benign
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:823554-1206859)x3 copy number gain See cases [RCV000203438] Chr19:823554..1206859 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3 copy number gain See cases [RCV000239425] Chr19:260912..1163934 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852323)_(1207208_?)dup duplication Peutz-Jeghers syndrome [RCV000527991] Chr19:852323..1207208 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3752G>A (p.Cys1251Tyr) single nucleotide variant Inborn genetic diseases [RCV003268131] Chr19:1108569 [GRCh38]
Chr19:1108568 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3703G>A (p.Ala1235Thr) single nucleotide variant Inborn genetic diseases [RCV003310874] Chr19:1108618 [GRCh38]
Chr19:1108617 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_014963.3(SBNO2):c.424C>T (p.Pro142Ser) single nucleotide variant Inborn genetic diseases [RCV003296400] Chr19:1127621 [GRCh38]
Chr19:1127620 [GRCh37]
Chr19:19p13.3		 likely benign
NM_014963.3(SBNO2):c.3299G>A (p.Arg1100Gln) single nucleotide variant Inborn genetic diseases [RCV003247964] Chr19:1109341 [GRCh38]
Chr19:1109340 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_014963.3(SBNO2):c.1293C>G (p.Ile431Met) single nucleotide variant Inborn genetic diseases [RCV003284539] Chr19:1119596 [GRCh38]
Chr19:1119595 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.559G>A (p.Glu187Lys) single nucleotide variant Inborn genetic diseases [RCV003263773] Chr19:1123603 [GRCh38]
Chr19:1123602 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3851C>T (p.Ala1284Val) single nucleotide variant Inborn genetic diseases [RCV003290928] Chr19:1108470 [GRCh38]
Chr19:1108469 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_014963.3(SBNO2):c.137C>T (p.Pro46Leu) single nucleotide variant Inborn genetic diseases [RCV003243707] Chr19:1149399 [GRCh38]
Chr19:1149398 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3177_3189dup (p.Tyr1064fs) duplication not provided [RCV000677294] Chr19:1109532..1109533 [GRCh38]
Chr19:1109531..1109532 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:715724-1438636)x3 copy number gain not provided [RCV000684086] Chr19:715724..1438636 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852323)_(1222011_?)del deletion Peutz-Jeghers syndrome [RCV000708465] Chr19:852323..1222011 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852319)_(1226656_?)dup duplication Peutz-Jeghers syndrome [RCV000707897] Chr19:852319..1226656 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_852323)_(1226652_?)del deletion Peutz-Jeghers syndrome [RCV000708221] Chr19:852323..1226652 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:1119019-1451274)x1 copy number loss not provided [RCV000739953] Chr19:1119019..1451274 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:1127615-1148812)x1 copy number loss not provided [RCV000739954] Chr19:1127615..1148812 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1127615-1182415)x1 copy number loss not provided [RCV000739955] Chr19:1127615..1182415 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1127876-1138214)x1 copy number loss not provided [RCV000739956] Chr19:1127876..1138214 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1127876-1228644)x1 copy number loss not provided [RCV000739957] Chr19:1127876..1228644 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1132637-1138267)x1 copy number loss not provided [RCV000739958] Chr19:1132637..1138267 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1132637-1148812)x1 copy number loss not provided [RCV000739959] Chr19:1132637..1148812 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1132637-1182415)x1 copy number loss not provided [RCV000739960] Chr19:1132637..1182415 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1132637-1192769)x1 copy number loss not provided [RCV000739961] Chr19:1132637..1192769 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_014963.3(SBNO2):c.710C>A (p.Thr237Asn) single nucleotide variant Inborn genetic diseases [RCV003268201] Chr19:1122964 [GRCh38]
Chr19:1122963 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3 copy number gain not provided [RCV000752449] Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:990891-1192769)x3 copy number gain not provided [RCV000752476] Chr19:990891..1192769 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1136223-1148812)x1 copy number loss not provided [RCV000752481] Chr19:1136223..1148812 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1136223-1181717)x1 copy number loss not provided [RCV000752482] Chr19:1136223..1181717 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1137304-1148812)x1 copy number loss not provided [RCV000752483] Chr19:1137304..1148812 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1137401-1182415)x1 copy number loss not provided [RCV000752484] Chr19:1137401..1182415 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1137453-1148812)x1 copy number loss not provided [RCV000752485] Chr19:1137453..1148812 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1137823-1138267)x4 copy number gain not provided [RCV000752486] Chr19:1137823..1138267 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1137823-1148812)x1 copy number loss not provided [RCV000752487] Chr19:1137823..1148812 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1138160-1148812)x1 copy number loss not provided [RCV000752488] Chr19:1138160..1148812 [GRCh37]
Chr19:19p13.3		 benign
NM_014963.3(SBNO2):c.5T>G (p.Leu2Arg) single nucleotide variant Inborn genetic diseases [RCV003247709] Chr19:1154272 [GRCh38]
Chr19:1154271 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_014963.3(SBNO2):c.3040G>A (p.Gly1014Ser) single nucleotide variant Inborn genetic diseases [RCV003239376] Chr19:1109766 [GRCh38]
Chr19:1109765 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.284C>A (p.Ser95Tyr) single nucleotide variant Inborn genetic diseases [RCV003291589] Chr19:1127761 [GRCh38]
Chr19:1127760 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2179C>T (p.Arg727Trp) single nucleotide variant Inborn genetic diseases [RCV003292901] Chr19:1113603 [GRCh38]
Chr19:1113602 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2160C>A (p.Asp720Glu) single nucleotide variant Inborn genetic diseases [RCV003291383] Chr19:1113622 [GRCh38]
Chr19:1113621 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.283T>G (p.Ser95Ala) single nucleotide variant Inborn genetic diseases [RCV003291588] Chr19:1127762 [GRCh38]
Chr19:1127761 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3046G>A (p.Glu1016Lys) single nucleotide variant Inborn genetic diseases [RCV003249579] Chr19:1109760 [GRCh38]
Chr19:1109759 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(2151333_?)dup duplication Cyclical neutropenia [RCV003107569] Chr19:589946..2151333 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2066G>T (p.Ser689Ile) single nucleotide variant Inborn genetic diseases [RCV003251714] Chr19:1114242 [GRCh38]
Chr19:1114241 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2253C>G (p.Thr751=) single nucleotide variant not provided [RCV001621313] Chr19:1112944 [GRCh38]
Chr19:1112943 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3 copy number gain not provided [RCV001007026] Chr19:1075192..2256387 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001032652] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852326)_(1226646_?)del deletion Peutz-Jeghers syndrome [RCV001033230] Chr19:852326..1226646 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852319)_(1226656_?)del deletion Peutz-Jeghers syndrome [RCV001033903] Chr19:852319..1226656 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3 copy number gain See cases [RCV002285065] Chr19:260911..2256387 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001307813] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(1650247_?)dup duplication not provided [RCV001940167] Chr19:589946..1650247 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_1050900)_(1242628_?)dup duplication not provided [RCV001917717] Chr19:1050900..1242628 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1319319) copy number loss Peutz-Jeghers syndrome [RCV002280635] Chr19:260911..1319319 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_014963.3(SBNO2):c.4091C>G (p.Ala1364Gly) single nucleotide variant Inborn genetic diseases [RCV003277264] Chr19:1108230 [GRCh38]
Chr19:1108229 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.185C>T (p.Ala62Val) single nucleotide variant Inborn genetic diseases [RCV003305252] Chr19:1147403 [GRCh38]
Chr19:1147402 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.1108C>T (p.Arg370Trp) single nucleotide variant Inborn genetic diseases [RCV002990628] Chr19:1122180 [GRCh38]
Chr19:1122179 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3854G>A (p.Gly1285Asp) single nucleotide variant Inborn genetic diseases [RCV003287395] Chr19:1108467 [GRCh38]
Chr19:1108466 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3431G>A (p.Arg1144Gln) single nucleotide variant Inborn genetic diseases [RCV002753508] Chr19:1108964 [GRCh38]
Chr19:1108963 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3902C>A (p.Ala1301Glu) single nucleotide variant Inborn genetic diseases [RCV002772883] Chr19:1108419 [GRCh38]
Chr19:1108418 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3982C>T (p.Pro1328Ser) single nucleotide variant Inborn genetic diseases [RCV002906490] Chr19:1108339 [GRCh38]
Chr19:1108338 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3854G>T (p.Gly1285Val) single nucleotide variant Inborn genetic diseases [RCV002773839] Chr19:1108467 [GRCh38]
Chr19:1108466 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.1150A>G (p.Ile384Val) single nucleotide variant Inborn genetic diseases [RCV002883930] Chr19:1120023 [GRCh38]
Chr19:1120022 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2761G>A (p.Val921Met) single nucleotide variant Inborn genetic diseases [RCV002779749] Chr19:1111554 [GRCh38]
Chr19:1111553 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3182C>T (p.Thr1061Met) single nucleotide variant Inborn genetic diseases [RCV002689795] Chr19:1109540 [GRCh38]
Chr19:1109539 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3439C>T (p.Arg1147Trp) single nucleotide variant Inborn genetic diseases [RCV002772882] Chr19:1108956 [GRCh38]
Chr19:1108955 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.1657G>A (p.Val553Met) single nucleotide variant Inborn genetic diseases [RCV002752039] Chr19:1117370 [GRCh38]
Chr19:1117369 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.1661G>A (p.Arg554His) single nucleotide variant Inborn genetic diseases [RCV002684902] Chr19:1117366 [GRCh38]
Chr19:1117365 [GRCh37]
Chr19:19p13.3		 likely benign
NM_014963.3(SBNO2):c.1337G>A (p.Arg446Gln) single nucleotide variant Inborn genetic diseases [RCV002859914] Chr19:1119552 [GRCh38]
Chr19:1119551 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3829C>T (p.Pro1277Ser) single nucleotide variant Inborn genetic diseases [RCV002990987] Chr19:1108492 [GRCh38]
Chr19:1108491 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.566A>T (p.Glu189Val) single nucleotide variant Inborn genetic diseases [RCV002733714] Chr19:1123596 [GRCh38]
Chr19:1123595 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.412G>A (p.Asp138Asn) single nucleotide variant Inborn genetic diseases [RCV002849395] Chr19:1127633 [GRCh38]
Chr19:1127632 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3126C>G (p.Ile1042Met) single nucleotide variant Inborn genetic diseases [RCV002692064] Chr19:1109596 [GRCh38]
Chr19:1109595 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2974G>A (p.Asp992Asn) single nucleotide variant Inborn genetic diseases [RCV002821436] Chr19:1110799 [GRCh38]
Chr19:1110798 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2114C>T (p.Pro705Leu) single nucleotide variant Inborn genetic diseases [RCV002822788] Chr19:1113668 [GRCh38]
Chr19:1113667 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.1378G>A (p.Val460Ile) single nucleotide variant Inborn genetic diseases [RCV002704034] Chr19:1119160 [GRCh38]
Chr19:1119159 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.217A>G (p.Thr73Ala) single nucleotide variant Inborn genetic diseases [RCV002951797] Chr19:1147371 [GRCh38]
Chr19:1147370 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3857C>G (p.Pro1286Arg) single nucleotide variant Inborn genetic diseases [RCV002980539] Chr19:1108464 [GRCh38]
Chr19:1108463 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2029G>A (p.Asp677Asn) single nucleotide variant Inborn genetic diseases [RCV002758241] Chr19:1114279 [GRCh38]
Chr19:1114278 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3195C>A (p.Asp1065Glu) single nucleotide variant Inborn genetic diseases [RCV002822191] Chr19:1109527 [GRCh38]
Chr19:1109526 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.952C>T (p.Arg318Cys) single nucleotide variant Inborn genetic diseases [RCV002706960] Chr19:1122521 [GRCh38]
Chr19:1122520 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2032G>A (p.Asp678Asn) single nucleotide variant Inborn genetic diseases [RCV002868952] Chr19:1114276 [GRCh38]
Chr19:1114275 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2252C>G (p.Thr751Ser) single nucleotide variant Inborn genetic diseases [RCV002661947] Chr19:1112945 [GRCh38]
Chr19:1112944 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2732C>A (p.Thr911Asn) single nucleotide variant Inborn genetic diseases [RCV002887702] Chr19:1111583 [GRCh38]
Chr19:1111582 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.273T>G (p.Phe91Leu) single nucleotide variant Inborn genetic diseases [RCV002804724] Chr19:1147315 [GRCh38]
Chr19:1147314 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3862G>A (p.Val1288Ile) single nucleotide variant Inborn genetic diseases [RCV002931279] Chr19:1108459 [GRCh38]
Chr19:1108458 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.767C>T (p.Thr256Ile) single nucleotide variant Inborn genetic diseases [RCV002954455] Chr19:1122907 [GRCh38]
Chr19:1122906 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.1574G>T (p.Gly525Val) single nucleotide variant Inborn genetic diseases [RCV002891550] Chr19:1117453 [GRCh38]
Chr19:1117452 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.1925C>T (p.Ala642Val) single nucleotide variant Inborn genetic diseases [RCV002641480] Chr19:1114383 [GRCh38]
Chr19:1114382 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.310A>G (p.Ile104Val) single nucleotide variant Inborn genetic diseases [RCV002645252] Chr19:1127735 [GRCh38]
Chr19:1127734 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3974C>G (p.Ala1325Gly) single nucleotide variant Inborn genetic diseases [RCV003006605] Chr19:1108347 [GRCh38]
Chr19:1108346 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2976C>G (p.Asp992Glu) single nucleotide variant Inborn genetic diseases [RCV002936218] Chr19:1110797 [GRCh38]
Chr19:1110796 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.1255G>A (p.Ala419Thr) single nucleotide variant Inborn genetic diseases [RCV002668583] Chr19:1119918 [GRCh38]
Chr19:1119917 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.4009G>A (p.Ala1337Thr) single nucleotide variant Inborn genetic diseases [RCV002939401] Chr19:1108312 [GRCh38]
Chr19:1108311 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3878C>A (p.Thr1293Asn) single nucleotide variant Inborn genetic diseases [RCV002812528] Chr19:1108443 [GRCh38]
Chr19:1108442 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3232C>T (p.Pro1078Ser) single nucleotide variant Inborn genetic diseases [RCV002959975] Chr19:1109408 [GRCh38]
Chr19:1109407 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.895G>C (p.Gly299Arg) single nucleotide variant Inborn genetic diseases [RCV002792598] Chr19:1122677 [GRCh38]
Chr19:1122676 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3593C>G (p.Thr1198Ser) single nucleotide variant Inborn genetic diseases [RCV002792824] Chr19:1108802 [GRCh38]
Chr19:1108801 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2089C>T (p.Leu697Phe) single nucleotide variant Inborn genetic diseases [RCV002713923] Chr19:1113693 [GRCh38]
Chr19:1113692 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.736G>T (p.Ala246Ser) single nucleotide variant Inborn genetic diseases [RCV002719657] Chr19:1122938 [GRCh38]
Chr19:1122937 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.1208C>T (p.Ala403Val) single nucleotide variant Inborn genetic diseases [RCV002769515] Chr19:1119965 [GRCh38]
Chr19:1119964 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.977C>T (p.Thr326Met) single nucleotide variant Inborn genetic diseases [RCV002648563] Chr19:1122496 [GRCh38]
Chr19:1122495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2789G>C (p.Gly930Ala) single nucleotide variant Inborn genetic diseases [RCV002748509] Chr19:1111526 [GRCh38]
Chr19:1111525 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2650C>T (p.Arg884Cys) single nucleotide variant Inborn genetic diseases [RCV002855826] Chr19:1112046 [GRCh38]
Chr19:1112045 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.1784G>A (p.Cys595Tyr) single nucleotide variant Inborn genetic diseases [RCV003254372] Chr19:1116847 [GRCh38]
Chr19:1116846 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3103G>A (p.Gly1035Arg) single nucleotide variant Inborn genetic diseases [RCV003212923] Chr19:1109703 [GRCh38]
Chr19:1109702 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2545G>A (p.Ala849Thr) single nucleotide variant Inborn genetic diseases [RCV003200579] Chr19:1112272 [GRCh38]
Chr19:1112271 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2791G>C (p.Val931Leu) single nucleotide variant Inborn genetic diseases [RCV003202836] Chr19:1111524 [GRCh38]
Chr19:1111523 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.985G>A (p.Ala329Thr) single nucleotide variant Inborn genetic diseases [RCV003180393] Chr19:1122488 [GRCh38]
Chr19:1122487 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3440G>A (p.Arg1147Gln) single nucleotide variant Inborn genetic diseases [RCV003215359] Chr19:1108955 [GRCh38]
Chr19:1108954 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.826A>C (p.Ile276Leu) single nucleotide variant Inborn genetic diseases [RCV003193026] Chr19:1122746 [GRCh38]
Chr19:1122745 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2035G>A (p.Val679Ile) single nucleotide variant Inborn genetic diseases [RCV003193115] Chr19:1114273 [GRCh38]
Chr19:1114272 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2450A>G (p.Gln817Arg) single nucleotide variant Inborn genetic diseases [RCV003206258] Chr19:1112467 [GRCh38]
Chr19:1112466 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.539G>A (p.Ser180Asn) single nucleotide variant Inborn genetic diseases [RCV003183161] Chr19:1123623 [GRCh38]
Chr19:1123622 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.4057A>T (p.Ile1353Phe) single nucleotide variant Inborn genetic diseases [RCV003183294] Chr19:1108264 [GRCh38]
Chr19:1108263 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.1889G>A (p.Arg630Gln) single nucleotide variant Inborn genetic diseases [RCV003180521] Chr19:1114419 [GRCh38]
Chr19:1114418 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.227C>T (p.Ala76Val) single nucleotide variant Inborn genetic diseases [RCV003209571] Chr19:1147361 [GRCh38]
Chr19:1147360 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.922G>A (p.Val308Ile) single nucleotide variant Inborn genetic diseases [RCV003341296] Chr19:1122551 [GRCh38]
Chr19:1122550 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.53C>T (p.Pro18Leu) single nucleotide variant Inborn genetic diseases [RCV003343042] Chr19:1154224 [GRCh38]
Chr19:1154223 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.170C>T (p.Pro57Leu) single nucleotide variant Inborn genetic diseases [RCV003345225] Chr19:1147418 [GRCh38]
Chr19:1147417 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3856C>T (p.Pro1286Ser) single nucleotide variant Inborn genetic diseases [RCV003365189] Chr19:1108465 [GRCh38]
Chr19:1108464 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.2870T>C (p.Leu957Pro) single nucleotide variant Inborn genetic diseases [RCV003370395] Chr19:1111033 [GRCh38]
Chr19:1111032 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.1936G>A (p.Ala646Thr) single nucleotide variant Inborn genetic diseases [RCV003375162] Chr19:1114372 [GRCh38]
Chr19:1114371 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3379G>A (p.Glu1127Lys) single nucleotide variant Inborn genetic diseases [RCV003347225] Chr19:1109181 [GRCh38]
Chr19:1109180 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.506T>C (p.Leu169Pro) single nucleotide variant Inborn genetic diseases [RCV003369094] Chr19:1123958 [GRCh38]
Chr19:1123957 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_014963.3(SBNO2):c.3820T>G (p.Phe1274Val) single nucleotide variant Inborn genetic diseases [RCV003351522] Chr19:1108501 [GRCh38]
Chr19:1108500 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_014963.3(SBNO2):c.1497C>T (p.Phe499=) single nucleotide variant not provided [RCV003421700] Chr19:1119041 [GRCh38]
Chr19:1119040 [GRCh37]
Chr19:19p13.3		 likely benign
NM_014963.3(SBNO2):c.280-4376C>T single nucleotide variant not provided [RCV003421702] Chr19:1132141 [GRCh38]
Chr19:1132140 [GRCh37]
Chr19:19p13.3		 likely benign
NM_014963.3(SBNO2):c.375G>T (p.Pro125=) single nucleotide variant not provided [RCV003421701] Chr19:1127670 [GRCh38]
Chr19:1127669 [GRCh37]
Chr19:19p13.3		 likely benign
NM_014963.3(SBNO2):c.1971G>A (p.Thr657=) single nucleotide variant not provided [RCV003423158] Chr19:1114337 [GRCh38]
Chr19:1114336 [GRCh37]
Chr19:19p13.3		 likely benign
NM_014963.3(SBNO2):c.1743C>T (p.Arg581=) single nucleotide variant not provided [RCV003413501] Chr19:1116888 [GRCh38]
Chr19:1116887 [GRCh37]
Chr19:19p13.3		 likely benign
NM_014963.3(SBNO2):c.1587C>G (p.Arg529=) single nucleotide variant not provided [RCV003413502] Chr19:1117440 [GRCh38]
Chr19:1117439 [GRCh37]
Chr19:19p13.3		 likely benign
NM_014963.3(SBNO2):c.726G>A (p.Ser242=) single nucleotide variant not provided [RCV003413503] Chr19:1122948 [GRCh38]
Chr19:1122947 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3(chr19:352288-1186507)x3 copy number gain not specified [RCV003986107] Chr19:352288..1186507 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1210337)x1 copy number loss not specified [RCV003986113] Chr19:260911..1210337 [GRCh37]
Chr19:19p13.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3689
Count of miRNA genes:835
Interacting mature miRNAs:1021
Transcripts:ENST00000361757, ENST00000438103, ENST00000586109, ENST00000587024, ENST00000587655, ENST00000587673, ENST00000590176, ENST00000590446, ENST00000590998, ENST00000592222
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
RH120143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,144,181 - 1,144,485UniSTSGRCh37
Build 36191,095,181 - 1,095,485RGDNCBI36
Celera191,077,155 - 1,077,459RGD
Cytogenetic Map19p13.3UniSTS
HuRef19917,893 - 918,197UniSTS
G21495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,163,101 - 1,163,227UniSTSGRCh37
Build 36191,114,101 - 1,114,227RGDNCBI36
Celera191,099,277 - 1,099,403RGD
Cytogenetic Map19p13.3UniSTS
HuRef19939,966 - 940,092UniSTS
STS-R96945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,107,763 - 1,107,904UniSTSGRCh37
Build 36191,058,763 - 1,058,904RGDNCBI36
Celera191,040,737 - 1,040,878RGD
Cytogenetic Map19p13.3UniSTS
HuRef19881,247 - 881,388UniSTS
GeneMap99-GB4 RH Map1918.48UniSTS
Bdyc2h09  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,107,756 - 1,107,887UniSTSGRCh37
Build 36191,058,756 - 1,058,887RGDNCBI36
Celera191,040,730 - 1,040,861RGD
Cytogenetic Map19p13.3UniSTS
HuRef19881,240 - 881,371UniSTS
GeneMap99-GB4 RH Map1918.31UniSTS
MARC_21175-21176:1027090938:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,119,112 - 1,119,956UniSTSGRCh37
Build 36191,070,112 - 1,070,956RGDNCBI36
Celera191,052,087 - 1,052,931RGD
HuRef19892,603 - 893,447UniSTS


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
Medium 2418 2538 1606 510 1875 352 4168 1694 1656 349 1440 1600 171 1204 2603 3
Low 20 453 120 114 73 113 187 503 2072 70 19 13 3 1 185 3 2
Below cutoff 3 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001100122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC120982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC217140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI433817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG332816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP315965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ950129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC400108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361757   ⟹   ENSP00000354733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,107,638 - 1,174,268 (-)Ensembl
RefSeq Acc Id: ENST00000438103   ⟹   ENSP00000400762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,107,637 - 1,132,221 (-)Ensembl
RefSeq Acc Id: ENST00000586109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,109,501 - 1,111,062 (-)Ensembl
RefSeq Acc Id: ENST00000587024   ⟹   ENSP00000468520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,107,641 - 1,174,256 (-)Ensembl
RefSeq Acc Id: ENST00000587655   ⟹   ENSP00000468302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,127,710 - 1,169,146 (-)Ensembl
RefSeq Acc Id: ENST00000587673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,108,565 - 1,111,605 (-)Ensembl
RefSeq Acc Id: ENST00000590176   ⟹   ENSP00000466861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,127,661 - 1,173,774 (-)Ensembl
RefSeq Acc Id: ENST00000590446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,117,396 - 1,120,128 (-)Ensembl
RefSeq Acc Id: ENST00000590998   ⟹   ENSP00000468534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,127,660 - 1,155,136 (-)Ensembl
RefSeq Acc Id: ENST00000592222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,115,356 - 1,132,221 (-)Ensembl
RefSeq Acc Id: NM_001100122   ⟹   NP_001093592
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,107,638 - 1,132,221 (-)NCBI
GRCh37191,107,633 - 1,174,282 (-)RGD
Build 36191,058,633 - 1,083,273 (-)NCBI Archive
Celera191,040,607 - 1,110,334 (-)RGD
HuRef19881,117 - 952,119 (-)RGD
CHM1_1191,107,226 - 1,131,865 (-)NCBI
T2T-CHM13v2.0191,072,304 - 1,096,886 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014963   ⟹   NP_055778
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,107,638 - 1,174,268 (-)NCBI
GRCh37191,107,633 - 1,174,282 (-)RGD
Build 36191,058,633 - 1,125,282 (-)NCBI Archive
Celera191,040,607 - 1,110,334 (-)RGD
HuRef19881,117 - 952,119 (-)RGD
CHM1_1191,107,226 - 1,174,370 (-)NCBI
T2T-CHM13v2.0191,072,304 - 1,145,101 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527804   ⟹   XP_011526106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,107,638 - 1,174,268 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047438466   ⟹   XP_047294422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,107,638 - 1,133,546 (-)NCBI
RefSeq Acc Id: XM_047438467   ⟹   XP_047294423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,111,522 - 1,174,268 (-)NCBI
RefSeq Acc Id: XM_054320272   ⟹   XP_054176247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,072,304 - 1,145,101 (-)NCBI
RefSeq Acc Id: XM_054320273   ⟹   XP_054176248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0191,076,188 - 1,145,101 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_055778   ⟸   NM_014963
- Peptide Label: isoform 1
- UniProtKB: Q3KQX0 (UniProtKB/Swiss-Prot),   O75257 (UniProtKB/Swiss-Prot),   B3KWJ1 (UniProtKB/Swiss-Prot),   A8K8P2 (UniProtKB/Swiss-Prot),   Q8TEM0 (UniProtKB/Swiss-Prot),   Q9Y2G9 (UniProtKB/Swiss-Prot),   K7ES28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001093592   ⟸   NM_001100122
- Peptide Label: isoform 2
- UniProtKB: K7ES28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011526106   ⟸   XM_011527804
- Peptide Label: isoform X1
- UniProtKB: K7ES28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000400762   ⟸   ENST00000438103
RefSeq Acc Id: ENSP00000354733   ⟸   ENST00000361757
RefSeq Acc Id: ENSP00000468520   ⟸   ENST00000587024
RefSeq Acc Id: ENSP00000468302   ⟸   ENST00000587655
RefSeq Acc Id: ENSP00000466861   ⟸   ENST00000590176
RefSeq Acc Id: ENSP00000468534   ⟸   ENST00000590998
RefSeq Acc Id: XP_047294422   ⟸   XM_047438466
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047294423   ⟸   XM_047438467
- Peptide Label: isoform X3
- UniProtKB: B4DL53 (UniProtKB/TrEMBL),   B5MDI1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054176247   ⟸   XM_054320272
- Peptide Label: isoform X1
- UniProtKB: K7ES28 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054176248   ⟸   XM_054320273
- Peptide Label: isoform X3
- UniProtKB: B4DL53 (UniProtKB/TrEMBL),   B5MDI1 (UniProtKB/TrEMBL)
Protein Domains
Strawberry notch AAA   Strawberry notch helicase C

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2G9-F1-model_v2 AlphaFold Q9Y2G9 1-1366 view protein structure

Promoters
RGD ID:6795708
Promoter ID:HG_KWN:28367
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC002LRI.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,059,479 - 1,059,979 (-)MPROMDB
RGD ID:6811732
Promoter ID:HG_ACW:39030
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:SBNO2.HAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,070,846 - 1,071,346 (-)MPROMDB
RGD ID:6796017
Promoter ID:HG_KWN:28368
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000250872,   NM_001100122,   UC010DSF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,083,236 - 1,083,997 (-)MPROMDB
RGD ID:6814657
Promoter ID:HG_XEF:3783
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_001077911
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,105,916 - 1,106,416 (-)MPROMDB
RGD ID:6811733
Promoter ID:HG_ACW:39034
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:SBNO2.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,119,916 - 1,120,416 (-)MPROMDB
RGD ID:6796021
Promoter ID:HG_KWN:28369
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000319671,   NM_014963,   UC010DSE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,124,996 - 1,125,496 (-)MPROMDB
RGD ID:7237785
Promoter ID:EPDNEW_H24638
Type:initiation region
Name:SBNO2_2
Description:strawberry notch homolog 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24639  EPDNEW_H24641  EPDNEW_H24640  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,132,221 - 1,132,281EPDNEW
RGD ID:7237787
Promoter ID:EPDNEW_H24639
Type:initiation region
Name:SBNO2_1
Description:strawberry notch homolog 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24638  EPDNEW_H24641  EPDNEW_H24640  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,174,267 - 1,174,327EPDNEW
RGD ID:7237791
Promoter ID:EPDNEW_H24640
Type:initiation region
Name:SBNO2_4
Description:strawberry notch homolog 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24638  EPDNEW_H24639  EPDNEW_H24641  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,177,819 - 1,177,879EPDNEW
RGD ID:7237789
Promoter ID:EPDNEW_H24641
Type:multiple initiation site
Name:SBNO2_3
Description:strawberry notch homolog 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24638  EPDNEW_H24639  EPDNEW_H24640  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,181,753 - 1,181,813EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29158 AgrOrtholog
COSMIC SBNO2 COSMIC
Ensembl Genes ENSG00000064932 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000278788 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361757 ENTREZGENE
  ENST00000361757.8 UniProtKB/Swiss-Prot
  ENST00000438103 ENTREZGENE
  ENST00000438103.6 UniProtKB/Swiss-Prot
  ENST00000587024.5 UniProtKB/TrEMBL
  ENST00000587655.2 UniProtKB/TrEMBL
  ENST00000590176.5 UniProtKB/TrEMBL
  ENST00000590998.5 UniProtKB/TrEMBL
  ENST00000612198.3 UniProtKB/Swiss-Prot
  ENST00000622719.2 UniProtKB/Swiss-Prot
  ENST00000631778.1 UniProtKB/TrEMBL
  ENST00000631948.1 UniProtKB/Swiss-Prot
  ENST00000632777.1 UniProtKB/TrEMBL
  ENST00000633604.1 UniProtKB/TrEMBL
  ENST00000634172.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000064932 GTEx
  ENSG00000278788 GTEx
HGNC ID HGNC:29158 ENTREZGENE
Human Proteome Map SBNO2 Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SBNO_Helicase_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNO_AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22904 UniProtKB/Swiss-Prot
NCBI Gene 22904 ENTREZGENE
OMIM 615729 OMIM
PANTHER PTHR12706 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12706:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AAA_34 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162402390 PharmGKB
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0JNW0_HUMAN UniProtKB/TrEMBL
  A8K8P2 ENTREZGENE
  B3KWJ1 ENTREZGENE
  B4DL53 ENTREZGENE, UniProtKB/TrEMBL
  B5MDI1 ENTREZGENE
  K7ENA9_HUMAN UniProtKB/TrEMBL
  K7ERL2_HUMAN UniProtKB/TrEMBL
  K7ES28 ENTREZGENE, UniProtKB/TrEMBL
  O75257 ENTREZGENE
  Q3KQX0 ENTREZGENE
  Q8TEM0 ENTREZGENE
  Q9Y2G9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K8P2 UniProtKB/Swiss-Prot
  B3KWJ1 UniProtKB/Swiss-Prot
  B5MDI1 UniProtKB/TrEMBL
  O75257 UniProtKB/Swiss-Prot
  Q3KQX0 UniProtKB/Swiss-Prot
  Q8TEM0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 SBNO2  strawberry notch homolog 2    strawberry notch homolog 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED