SCAPER (S-phase cyclin A associated protein in the ER) - Rat Genome Database

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Gene: SCAPER (S-phase cyclin A associated protein in the ER) Homo sapiens
Analyze
Symbol: SCAPER
Name: S-phase cyclin A associated protein in the ER
RGD ID: 1345518
HGNC Page HGNC:13081
Description: Predicted to enable nucleic acid binding activity and zinc ion binding activity. Acts upstream of or within retina development in camera-type eye. Located in cytosol and nuclear speck.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ31533; FLJ31953; FLJ46212; IDDRP; KIAA1454; MSTP063; S phase cyclin A-associated protein in the endoplasmic reticulum; S phase cyclin A-associated protein in the ER; S-phase cyclin A-associated protein in the ER; Zfp291; zinc finger protein 291; ZNF291
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
GRCh381576,347,904 - 76,905,340 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1576,347,904 - 76,905,444 (-)EnsemblGRCh38hg38GRCh38
GRCh371576,640,245 - 77,197,681 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361574,427,592 - 74,963,247 (-)NCBINCBI36Build 36hg18NCBI36
Build 341574,427,591 - 74,963,247NCBI
Celera1553,566,747 - 54,107,576 (-)NCBICelera
Cytogenetic Map15q24.3NCBI
HuRef1553,397,503 - 53,933,142 (-)NCBIHuRef
CHM1_11576,759,947 - 77,294,404 (-)NCBICHM1_1
T2T-CHM13v2.01574,219,067 - 74,764,374 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
butanal  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
CGP 52608  (EXP)
chromium(6+)  (EXP)
cisplatin  (EXP)
Dibutyl phosphate  (EXP)
disodium selenite  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
glyphosate  (ISO)
ketamine  (ISO)
leflunomide  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
niclosamide  (EXP)
O-methyleugenol  (EXP)
ozone  (ISO)
paracetamol  (EXP)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
potassium chromate  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
succimer  (EXP,ISO)
sulfadimethoxine  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vitamin E  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal electroretinogram  (IAGP)
Abnormal flash visual evoked potentials  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal oral cavity morphology  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the endocrine system  (IAGP)
Abnormality of the gastrointestinal tract  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the sense of smell  (IAGP)
Aganglionic megacolon  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the vagina  (IAGP)
Asthma  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blindness  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Brachydactyly  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Celiac disease  (IAGP)
Childhood onset  (IAGP)
Childhood-onset truncal obesity  (IAGP)
Chronic kidney disease  (IAGP)
Cognitive impairment  (IAGP)
Color vision defect  (IAGP)
Conductive hearing impairment  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Cryptorchidism  (IAGP)
Decreased HDL cholesterol concentration  (IAGP)
Decreased testicular size  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Emotional lability  (IAGP)
Fifth finger distal phalanx clinodactyly  (IAGP)
Finger syndactyly  (IAGP)
Generalized hirsutism  (IAGP)
Glaucoma  (IAGP)
Hearing impairment  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatic steatosis  (IAGP)
High palate  (IAGP)
Horseshoe kidney  (IAGP)
Hydrometrocolpos  (IAGP)
Hydronephrosis  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypodontia  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the ovary  (IAGP)
Hypothyroidism  (IAGP)
Impaired fasting glucose  (IAGP)
Infertility  (IAGP)
Inflammation of the large intestine  (IAGP)
Insulin resistance  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Irregular menstruation  (IAGP)
Joint hypermobility  (IAGP)
Keratoconus  (IAGP)
Long philtrum  (IAGP)
Macrotia  (IAGP)
Macular degeneration  (IAGP)
Maturity-onset diabetes of the young  (IAGP)
Medial flaring of the eyebrow  (IAGP)
Microdontia  (IAGP)
Multiple renal cysts  (IAGP)
Nasal dysarthria  (IAGP)
Nephrotic syndrome  (IAGP)
Neurodevelopmental delay  (IAGP)
Neurogenic bladder  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Otitis media  (IAGP)
Peripapillary atrophy  (IAGP)
Peripheral visual field loss  (IAGP)
Photophobia  (IAGP)
Photopsia  (IAGP)
Polycystic ovaries  (IAGP)
Postaxial polydactyly  (IAGP)
Posterior subcapsular cataract  (IAGP)
Posteriorly rotated ears  (IAGP)
Progressive night blindness  (IAGP)
Prominent nasal bridge  (IAGP)
Reduced visual acuity  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Retrognathia  (IAGP)
Rhinitis  (IAGP)
Rod-cone dystrophy  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short attention span  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Type II diabetes mellitus  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10819331   PMID:12421765   PMID:12477932   PMID:14702039   PMID:15840729   PMID:17553665   PMID:17698606   PMID:18245951   PMID:20301537   PMID:24163370   PMID:24816252   PMID:25814554  
PMID:26186194   PMID:26496610   PMID:27197753   PMID:27609421   PMID:28514442   PMID:28794130   PMID:28927264   PMID:29395067   PMID:29507755   PMID:30021884   PMID:30561111   PMID:30723319  
PMID:31069901   PMID:31091453   PMID:31192531   PMID:31753913   PMID:32510560   PMID:32527956   PMID:32694731   PMID:32814053   PMID:33306668   PMID:33961781   PMID:34079125   PMID:35235311  
PMID:35271311   PMID:35696571   PMID:35915203   PMID:35944360   PMID:36114006   PMID:36543142   PMID:36736316   PMID:37704626  


Genomics

Comparative Map Data
SCAPER
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381576,347,904 - 76,905,340 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1576,347,904 - 76,905,444 (-)EnsemblGRCh38hg38GRCh38
GRCh371576,640,245 - 77,197,681 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361574,427,592 - 74,963,247 (-)NCBINCBI36Build 36hg18NCBI36
Build 341574,427,591 - 74,963,247NCBI
Celera1553,566,747 - 54,107,576 (-)NCBICelera
Cytogenetic Map15q24.3NCBI
HuRef1553,397,503 - 53,933,142 (-)NCBIHuRef
CHM1_11576,759,947 - 77,294,404 (-)NCBICHM1_1
T2T-CHM13v2.01574,219,067 - 74,764,374 (-)NCBIT2T-CHM13v2.0
Scaper
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39955,457,163 - 55,845,505 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl955,457,163 - 55,845,403 (-)EnsemblGRCm39 Ensembl
GRCm38955,549,879 - 55,938,221 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl955,549,879 - 55,938,119 (-)EnsemblGRCm38mm10GRCm38
MGSCv37955,397,690 - 55,785,922 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36955,348,016 - 55,736,258 (-)NCBIMGSCv36mm8
Celera952,792,038 - 53,172,025 (-)NCBICelera
Cytogenetic Map9BNCBI
cM Map930.13NCBI
Scaper
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8864,828,789 - 65,228,240 (-)NCBIGRCr8
mRatBN7.2855,932,717 - 56,332,222 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl855,933,306 - 56,332,122 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0860,127,039 - 60,593,568 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl860,126,624 - 60,570,058 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0858,705,372 - 58,836,992 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0858,961,271 - 59,164,146 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4859,115,519 - 59,497,870 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1859,464,458 - 59,544,779 (-)NCBI
Celera855,416,034 - 55,813,085 (-)NCBICelera
Cytogenetic Map8q24NCBI
Scaper
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554501,480,287 - 1,812,082 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554501,479,983 - 1,821,681 (-)NCBIChiLan1.0ChiLan1.0
SCAPER
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21665,549,051 - 66,117,913 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11569,713,453 - 70,282,354 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01555,263,970 - 55,830,877 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11574,855,175 - 75,419,675 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1574,855,612 - 75,377,042 (-)Ensemblpanpan1.1panPan2
SCAPER
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13039,380,315 - 39,812,030 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3039,388,192 - 39,812,046 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3039,240,370 - 39,671,663 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03039,582,447 - 40,016,144 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3039,582,469 - 40,016,129 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13039,530,410 - 39,902,122 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03039,579,237 - 40,010,871 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03039,816,412 - 40,248,871 (+)NCBIUU_Cfam_GSD_1.0
Scaper
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640117,566,417 - 117,986,576 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647135,416,571 - 35,835,048 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647135,414,507 - 35,834,438 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCAPER
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl756,583,160 - 57,011,914 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1756,583,247 - 57,012,312 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2761,461,469 - 61,746,070 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SCAPER
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1266,400,083 - 6,934,573 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666048134,788,367 - 135,340,442 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Scaper
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248941,468,299 - 1,847,784 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248941,468,294 - 1,847,661 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SCAPER
185 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020843.4(SCAPER):c.3656G>A (p.Ser1219Asn) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000722056]|Rod-cone dystrophy [RCV000523592] Chr15:76381427 [GRCh38]
Chr15:76673768 [GRCh37]
Chr15:15q24.3		 pathogenic|likely pathogenic
NM_020843.3(SCAPER):c.2973_2976del (p.Ile991Metfs) microsatellite Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000722054]|Rod-cone dystrophy [RCV000515799] Chr15:76471314..76471317 [GRCh38]
Chr15:76763655..76763658 [GRCh37]
Chr15:15q24.3		 pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3		 pathogenic
NM_001145923.1(SCAPER):c.1908-10590A>G single nucleotide variant Lung cancer [RCV000099667] Chr15:76632419 [GRCh38]
Chr15:76924760 [GRCh37]
Chr15:15q24.3		 uncertain significance
GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1 copy number loss See cases [RCV000137079] Chr15:76006154..79982417 [GRCh38]
Chr15:76298495..80274759 [GRCh37]
Chr15:74085550..78061814 [NCBI36]
Chr15:15q24.2-25.1		 pathogenic|uncertain significance
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q24.2-24.3(chr15:76223116-77023288)x3 copy number gain See cases [RCV000239983] Chr15:76223116..77023288 [GRCh37]
Chr15:15q24.2-24.3		 uncertain significance
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3		 pathogenic
GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3 copy number gain See cases [RCV000240526] Chr15:74368270..78122737 [GRCh37]
Chr15:15q24.1-24.3		 uncertain significance
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
NM_020843.3(SCAPER):c.1859_1861del (p.Glu620del) microsatellite Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000722055]|Rod-cone dystrophy [RCV000520792] Chr15:76753813..76753815 [GRCh38]
Chr15:77046154..77046156 [GRCh37]
Chr15:15q24.3		 pathogenic|likely pathogenic
NM_020843.4(SCAPER):c.2023-2A>G single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000722053]|Retinitis pigmentosa [RCV000578475]|Syndromic retinitis pigmentosa [RCV001003221] Chr15:76728739 [GRCh38]
Chr15:77021080 [GRCh37]
Chr15:15q24.3		 pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q24.2-24.3(chr15:76061143-78265674)x3 copy number gain See cases [RCV000446527] Chr15:76061143..78265674 [GRCh37]
Chr15:15q24.2-24.3		 uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q24.3(chr15:76760890-77001845)x1 copy number loss See cases [RCV000510409] Chr15:76760890..77001845 [GRCh37]
Chr15:15q24.3		 likely benign
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_020843.4(SCAPER):c.3532A>G (p.Thr1178Ala) single nucleotide variant Inborn genetic diseases [RCV003242517] Chr15:76381551 [GRCh38]
Chr15:76673892 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3824G>C (p.Gly1275Ala) single nucleotide variant Inborn genetic diseases [RCV003256092] Chr15:76376193 [GRCh38]
Chr15:76668534 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2357C>T (p.Thr786Ile) single nucleotide variant Inborn genetic diseases [RCV003267516] Chr15:76702893 [GRCh38]
Chr15:76995234 [GRCh37]
Chr15:15q24.3		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer) deletion Obesity [RCV000735815] Chr15:76574190 [GRCh38]
Chr15:76866531 [GRCh37]
Chr15:15q24.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754167] Chr15:74071509..77878298 [GRCh38]
Chr15:15q24.1-24.3		 likely pathogenic
GRCh37/hg19 15q24.2-24.3(chr15:76408090-76640658)x3 copy number gain not provided [RCV000738824] Chr15:76408090..76640658 [GRCh37]
Chr15:15q24.2-24.3		 benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984530]|not provided [RCV000760910] Chr15:76702873 [GRCh38]
Chr15:76995214 [GRCh37]
Chr15:15q24.3		 pathogenic|likely pathogenic
NM_020843.4(SCAPER):c.776G>A (p.Arg259Gln) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV003448867] Chr15:76775114 [GRCh38]
Chr15:77067455 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3496C>G (p.Gln1166Glu) single nucleotide variant SCAPER-related disorder [RCV003960841]|not provided [RCV000971803] Chr15:76381587 [GRCh38]
Chr15:76673928 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.2004A>T (p.Ala668=) single nucleotide variant SCAPER-related disorder [RCV003928543]|not provided [RCV000972888] Chr15:76733247 [GRCh38]
Chr15:77025588 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.977A>G (p.Glu326Gly) single nucleotide variant not provided [RCV000973050] Chr15:76774913 [GRCh38]
Chr15:77067254 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.2787G>A (p.Val929=) single nucleotide variant not provided [RCV000983393] Chr15:76574209 [GRCh38]
Chr15:76866550 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.2457C>T (p.Ala819=) single nucleotide variant SCAPER-related disorder [RCV003895516]|not provided [RCV000906813] Chr15:76701809 [GRCh38]
Chr15:76994150 [GRCh37]
Chr15:15q24.3		 benign|likely benign
NM_020843.4(SCAPER):c.2289A>G (p.Gln763=) single nucleotide variant not provided [RCV000937529] Chr15:76702961 [GRCh38]
Chr15:76995302 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3966C>T (p.Ile1322=) single nucleotide variant not provided [RCV000979627] Chr15:76354030 [GRCh38]
Chr15:76646371 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3780A>G (p.Gln1260=) single nucleotide variant SCAPER-related disorder [RCV003968195]|not provided [RCV000896331] Chr15:76376237 [GRCh38]
Chr15:76668578 [GRCh37]
Chr15:15q24.3		 benign|likely benign
NM_020843.4(SCAPER):c.230C>T (p.Thr77Met) single nucleotide variant SCAPER-related disorder [RCV004754616]|not provided [RCV000897484] Chr15:76841897 [GRCh38]
Chr15:77134238 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.2236dup (p.Ile746fs) duplication Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984523]|not provided [RCV002508274] Chr15:76705913..76705914 [GRCh38]
Chr15:76998254..76998255 [GRCh37]
Chr15:15q24.3		 pathogenic|likely pathogenic
NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984524] Chr15:76705971 [GRCh38]
Chr15:76998312 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.1116del (p.Val373fs) deletion Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984525] Chr15:76771874 [GRCh38]
Chr15:77064215 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.1495+1G>A single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984526] Chr15:76765562 [GRCh38]
Chr15:77057903 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.3224del (p.Pro1075fs) deletion Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984527] Chr15:76434165 [GRCh38]
Chr15:76726506 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.829C>T (p.Arg277Ter) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984528] Chr15:76775061 [GRCh38]
Chr15:77067402 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.3707_3708del (p.Ser1236fs) deletion Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984529] Chr15:76376309..76376310 [GRCh38]
Chr15:76668650..76668651 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.2166-3C>G single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984531] Chr15:76705987 [GRCh38]
Chr15:76998328 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.2415A>T (p.Val805=) single nucleotide variant SCAPER-related disorder [RCV004754628]|not provided [RCV000916951] Chr15:76701851 [GRCh38]
Chr15:76994192 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.2657A>T (p.Tyr886Phe) single nucleotide variant Inborn genetic diseases [RCV002547285]|SCAPER-related disorder [RCV003926218]|not provided [RCV000963718] Chr15:76621818 [GRCh38]
Chr15:76914159 [GRCh37]
Chr15:15q24.3		 benign|likely benign
NM_020843.4(SCAPER):c.3882C>G (p.Pro1294=) single nucleotide variant SCAPER-related disorder [RCV003928586]|not provided [RCV000974364] Chr15:76354114 [GRCh38]
Chr15:76646455 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.95G>A (p.Ser32Asn) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV002489371]|SCAPER-related disorder [RCV003960752]|not provided [RCV000964006] Chr15:76862445 [GRCh38]
Chr15:77154786 [GRCh37]
Chr15:15q24.3		 benign|likely benign
NM_020843.4(SCAPER):c.24C>T (p.Ser8=) single nucleotide variant not provided [RCV000959225] Chr15:76862516 [GRCh38]
Chr15:77154857 [GRCh37]
Chr15:15q24.3		 benign|likely benign
GRCh37/hg19 15q24.3(chr15:77001844-77112956)x1 copy number loss not provided [RCV001006712] Chr15:77001844..77112956 [GRCh37]
Chr15:15q24.3		 likely benign
GRCh37/hg19 15q24.3(chr15:76798898-77110524)x1 copy number loss not provided [RCV000846577] Chr15:76798898..77110524 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.972T>C (p.Thr324=) single nucleotide variant SCAPER-related disorder [RCV004754629]|not provided [RCV000917045] Chr15:76774918 [GRCh38]
Chr15:77067259 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3312-7T>C single nucleotide variant SCAPER-related disorder [RCV003928571]|not provided [RCV000974025] Chr15:76404686 [GRCh38]
Chr15:76697027 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.2322G>A (p.Gly774=) single nucleotide variant SCAPER-related disorder [RCV003940788]|not provided [RCV000897026] Chr15:76702928 [GRCh38]
Chr15:76995269 [GRCh37]
Chr15:15q24.3		 benign|likely benign
NM_020843.4(SCAPER):c.2043G>A (p.Glu681=) single nucleotide variant SCAPER-related disorder [RCV003910782]|not provided [RCV000903087] Chr15:76728717 [GRCh38]
Chr15:77021058 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.3811A>G (p.Ile1271Val) single nucleotide variant Inborn genetic diseases [RCV003243370]|SCAPER-related disorder [RCV004754625]|not provided [RCV000908636] Chr15:76376206 [GRCh38]
Chr15:76668547 [GRCh37]
Chr15:15q24.3		 likely benign|uncertain significance
NM_020843.4(SCAPER):c.3597C>T (p.Pro1199=) single nucleotide variant not provided [RCV000959224] Chr15:76381486 [GRCh38]
Chr15:76673827 [GRCh37]
Chr15:15q24.3		 benign|likely benign
NM_020843.4(SCAPER):c.3616G>A (p.Glu1206Lys) single nucleotide variant not provided [RCV000885507] Chr15:76381467 [GRCh38]
Chr15:76673808 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.330T>G (p.Leu110=) single nucleotide variant SCAPER-related disorder [RCV003942916]|not provided [RCV000933299] Chr15:76841797 [GRCh38]
Chr15:77134138 [GRCh37]
Chr15:15q24.3		 benign|likely benign
NM_020843.4(SCAPER):c.3312-4C>G single nucleotide variant not provided [RCV000930746] Chr15:76404683 [GRCh38]
Chr15:76697024 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.3290A>G (p.Asn1097Ser) single nucleotide variant SCAPER-related disorder [RCV003936188]|not provided [RCV000974365] Chr15:76434099 [GRCh38]
Chr15:76726440 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.835A>G (p.Thr279Ala) single nucleotide variant Inborn genetic diseases [RCV004029865]|SCAPER-related disorder [RCV003970773]|not provided [RCV000955019] Chr15:76775055 [GRCh38]
Chr15:77067396 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3639C>A (p.Ile1213=) single nucleotide variant SCAPER-related disorder [RCV003915935]|not provided [RCV000957325] Chr15:76381444 [GRCh38]
Chr15:76673785 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.3418G>A (p.Ala1140Thr) single nucleotide variant SCAPER-related disorder [RCV003926061]|not provided [RCV000957326] Chr15:76404573 [GRCh38]
Chr15:76696914 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.1884T>C (p.Phe628=) single nucleotide variant not provided [RCV000890188] Chr15:76733367 [GRCh38]
Chr15:77025708 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.224C>T (p.Ser75Leu) single nucleotide variant SCAPER-related disorder [RCV003968110]|not provided [RCV000890189] Chr15:76841903 [GRCh38]
Chr15:77134244 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.1728G>A (p.Glu576=) single nucleotide variant SCAPER-related disorder [RCV003923168]|not provided [RCV000911816] Chr15:76753946 [GRCh38]
Chr15:77046287 [GRCh37]
Chr15:15q24.3		 benign|likely benign
NM_020843.4(SCAPER):c.3109T>C (p.Leu1037=) single nucleotide variant not provided [RCV000933807] Chr15:76434280 [GRCh38]
Chr15:76726621 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3311+2919_3311+2920insTTTACACTTTTACTAAATTTTAATTTAAAATTTAGTAAATTAAAATAAAATTTTACTATTTTTAATTAGGCTTGTTTTACACTTGGGTTTTTT insertion Schizophrenia [RCV002463554] Chr15:76431158..76431159 [GRCh38]
Chr15:76723499..76723500 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1081C>T (p.Arg361Ter) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001029902] Chr15:76771909 [GRCh38]
Chr15:77064250 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.3065T>C (p.Ile1022Thr) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001542373] Chr15:76471225 [GRCh38]
Chr15:76763566 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2653del (p.Glu885fs) deletion Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001029901] Chr15:76621822 [GRCh38]
Chr15:76914163 [GRCh37]
Chr15:15q24.3		 likely pathogenic
GRCh37/hg19 15q24.3(chr15:76617379-76993135)x1 copy number loss not provided [RCV001259712] Chr15:76617379..76993135 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.334C>T (p.Arg112Ter) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001813898] Chr15:76841793 [GRCh38]
Chr15:77134134 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_020843.4(SCAPER):c.939A>C (p.Lys313Asn) single nucleotide variant not provided [RCV001357053] Chr15:76774951 [GRCh38]
Chr15:77067292 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2290A>T (p.Arg764Ter) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001783714] Chr15:76702960 [GRCh38]
Chr15:76995301 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.2961_2962del (p.Cys988fs) microsatellite Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001783712] Chr15:76471328..76471329 [GRCh38]
Chr15:76763669..76763670 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.2955-1G>T single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001783713]|SCAPER-related disorder [RCV004731179] Chr15:76471336 [GRCh38]
Chr15:76763677 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.3316G>A (p.Val1106Met) single nucleotide variant not provided [RCV001765945] Chr15:76404675 [GRCh38]
Chr15:76697016 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3705+3A>G single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794927]|SCAPER-related disorder [RCV003984109]|not provided [RCV004716826] Chr15:76381375 [GRCh38]
Chr15:76673716 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.3265C>A (p.Pro1089Thr) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794928]|SCAPER-related disorder [RCV003976187]|not provided [RCV004715561] Chr15:76434124 [GRCh38]
Chr15:76726465 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.3078+39G>T single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794929]|not provided [RCV004715562] Chr15:76471173 [GRCh38]
Chr15:76763514 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.2645+36T>C single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794930]|not provided [RCV004715563] Chr15:76665617 [GRCh38]
Chr15:76957958 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.772+1881G>T single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794931]|not provided [RCV004715564] Chr15:76793399 [GRCh38]
Chr15:77085740 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.612-4A>G single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794932]|SCAPER-related disorder [RCV003976188]|not provided [RCV004716827] Chr15:76795444 [GRCh38]
Chr15:77087785 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.1A>G (p.Met1Val) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794933]|SCAPER-related disorder [RCV003976189]|not provided [RCV004715565] Chr15:76883817 [GRCh38]
Chr15:77176158 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.-42T>A single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794934]|not provided [RCV004715566] Chr15:76883859 [GRCh38]
Chr15:77176200 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.1867-5dup duplication SCAPER-related disorder [RCV003973344]|not provided [RCV002211310] Chr15:76733388..76733389 [GRCh38]
Chr15:77025729..77025730 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.125-1G>A single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV002221861] Chr15:76857880 [GRCh38]
Chr15:77150221 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.42A>G (p.Val14=) single nucleotide variant not provided [RCV002221860]   uncertain significance
NM_020843.4(SCAPER):c.563C>T (p.Thr188Ile) single nucleotide variant Inborn genetic diseases [RCV003299982] Chr15:76800296 [GRCh38]
Chr15:77092637 [GRCh37]
Chr15:15q24.3		 uncertain significance
GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1 copy number loss not provided [RCV002474580] Chr15:74353736..77884397 [GRCh37]
Chr15:15q24.1-24.3		 pathogenic
GRCh37/hg19 15q24.3(chr15:76842952-77016134)x1 copy number loss not provided [RCV002474495] Chr15:76842952..77016134 [GRCh37]
Chr15:15q24.3		 uncertain significance
Single allele deletion Schizophrenia [RCV002463521] Chr15:76884596..76896941 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.213T>G (p.Cys71Trp) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV002310613] Chr15:76841914 [GRCh38]
Chr15:77134255 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.4200A>C (p.Lys1400Asn) single nucleotide variant Inborn genetic diseases [RCV002749159] Chr15:76348636 [GRCh38]
Chr15:76640977 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3818G>A (p.Cys1273Tyr) single nucleotide variant Inborn genetic diseases [RCV002793920] Chr15:76376199 [GRCh38]
Chr15:76668540 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.188C>T (p.Thr63Ile) single nucleotide variant Inborn genetic diseases [RCV002997281] Chr15:76857816 [GRCh38]
Chr15:77150157 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2291G>A (p.Arg764Lys) single nucleotide variant Inborn genetic diseases [RCV002777071] Chr15:76702959 [GRCh38]
Chr15:76995300 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3468G>A (p.Arg1156=) single nucleotide variant Inborn genetic diseases [RCV002749919]|SCAPER-related disorder [RCV003906633]|not provided [RCV003396884] Chr15:76381615 [GRCh38]
Chr15:76673956 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.1157C>A (p.Ala386Asp) single nucleotide variant Inborn genetic diseases [RCV002782059] Chr15:76771833 [GRCh38]
Chr15:77064174 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1199C>T (p.Ala400Val) single nucleotide variant Inborn genetic diseases [RCV002844876] Chr15:76771791 [GRCh38]
Chr15:77064132 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.897T>G (p.Asp299Glu) single nucleotide variant Inborn genetic diseases [RCV002659826] Chr15:76774993 [GRCh38]
Chr15:77067334 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.187A>G (p.Thr63Ala) single nucleotide variant Inborn genetic diseases [RCV002798810]|SCAPER-related disorder [RCV004754942] Chr15:76857817 [GRCh38]
Chr15:77150158 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3077C>T (p.Thr1026Met) single nucleotide variant Inborn genetic diseases [RCV002822467] Chr15:76471213 [GRCh38]
Chr15:76763554 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.145G>C (p.Gly49Arg) single nucleotide variant Inborn genetic diseases [RCV002983986]|SCAPER-related disorder [RCV004754955] Chr15:76857859 [GRCh38]
Chr15:77150200 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1300A>G (p.Lys434Glu) single nucleotide variant Inborn genetic diseases [RCV002713563] Chr15:76767037 [GRCh38]
Chr15:77059378 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3431A>G (p.His1144Arg) single nucleotide variant Inborn genetic diseases [RCV002768687]|Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV004725628]|SCAPER-related disorder [RCV004754959] Chr15:76404560 [GRCh38]
Chr15:76696901 [GRCh37]
Chr15:15q24.3		 likely benign|uncertain significance
NM_020843.4(SCAPER):c.1366G>A (p.Ala456Thr) single nucleotide variant Inborn genetic diseases [RCV002762918] Chr15:76766971 [GRCh38]
Chr15:77059312 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3650T>C (p.Ile1217Thr) single nucleotide variant Inborn genetic diseases [RCV002853951] Chr15:76381433 [GRCh38]
Chr15:76673774 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3632A>G (p.Asn1211Ser) single nucleotide variant Inborn genetic diseases [RCV002787279] Chr15:76381451 [GRCh38]
Chr15:76673792 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.4099+2T>C single nucleotide variant Inborn genetic diseases [RCV002788092] Chr15:76351235 [GRCh38]
Chr15:76643576 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2436del (p.Arg814fs) deletion Inborn genetic diseases [RCV002850455] Chr15:76701830 [GRCh38]
Chr15:76994171 [GRCh37]
Chr15:15q24.3		 pathogenic
NM_020843.4(SCAPER):c.2260A>T (p.Ile754Phe) single nucleotide variant Inborn genetic diseases [RCV002827405] Chr15:76702990 [GRCh38]
Chr15:76995331 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.740C>T (p.Pro247Leu) single nucleotide variant Inborn genetic diseases [RCV002788295] Chr15:76795312 [GRCh38]
Chr15:77087653 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2393A>G (p.Asn798Ser) single nucleotide variant Inborn genetic diseases [RCV002717744] Chr15:76702857 [GRCh38]
Chr15:76995198 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2908G>A (p.Val970Ile) single nucleotide variant Inborn genetic diseases [RCV002960464]|SCAPER-related disorder [RCV004754949] Chr15:76504905 [GRCh38]
Chr15:76797246 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.4059G>C (p.Gln1353His) single nucleotide variant Inborn genetic diseases [RCV002670606] Chr15:76351277 [GRCh38]
Chr15:76643618 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.49A>C (p.Ile17Leu) single nucleotide variant Inborn genetic diseases [RCV002935616] Chr15:76862491 [GRCh38]
Chr15:77154832 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.764G>A (p.Arg255His) single nucleotide variant Inborn genetic diseases [RCV002961686] Chr15:76795288 [GRCh38]
Chr15:77087629 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3203G>A (p.Arg1068Gln) single nucleotide variant Inborn genetic diseases [RCV002747443] Chr15:76434186 [GRCh38]
Chr15:76726527 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3839A>G (p.Asn1280Ser) single nucleotide variant Inborn genetic diseases [RCV002719635] Chr15:76376178 [GRCh38]
Chr15:76668519 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1256C>G (p.Ala419Gly) single nucleotide variant Inborn genetic diseases [RCV002835421] Chr15:76767081 [GRCh38]
Chr15:77059422 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.982C>T (p.His328Tyr) single nucleotide variant Inborn genetic diseases [RCV002934899] Chr15:76774908 [GRCh38]
Chr15:77067249 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.419A>G (p.Tyr140Cys) single nucleotide variant Inborn genetic diseases [RCV002669677] Chr15:76804608 [GRCh38]
Chr15:77096949 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2975A>G (p.Asn992Ser) single nucleotide variant Inborn genetic diseases [RCV002669887] Chr15:76471315 [GRCh38]
Chr15:76763656 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.700A>G (p.Thr234Ala) single nucleotide variant Inborn genetic diseases [RCV003173958] Chr15:76795352 [GRCh38]
Chr15:77087693 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2518T>C (p.Ser840Pro) single nucleotide variant Inborn genetic diseases [RCV003205140] Chr15:76665780 [GRCh38]
Chr15:76958121 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.848C>T (p.Pro283Leu) single nucleotide variant Inborn genetic diseases [RCV003210719] Chr15:76775042 [GRCh38]
Chr15:77067383 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3293G>A (p.Arg1098Gln) single nucleotide variant Bardet-Biedl syndrome 1 [RCV003229559] Chr15:76434096 [GRCh38]
Chr15:76726437 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.634G>A (p.Ala212Thr) single nucleotide variant Inborn genetic diseases [RCV003181129] Chr15:76795418 [GRCh38]
Chr15:77087759 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3637A>G (p.Ile1213Val) single nucleotide variant Inborn genetic diseases [RCV003199781] Chr15:76381446 [GRCh38]
Chr15:76673787 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3242C>T (p.Pro1081Leu) single nucleotide variant Inborn genetic diseases [RCV003208612] Chr15:76434147 [GRCh38]
Chr15:76726488 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1883T>C (p.Phe628Ser) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV003142748] Chr15:76733368 [GRCh38]
Chr15:77025709 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1382A>T (p.Asp461Val) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV003142749] Chr15:76766955 [GRCh38]
Chr15:77059296 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1250C>T (p.Ser417Phe) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV003142750] Chr15:76767087 [GRCh38]
Chr15:77059428 [GRCh37]
Chr15:15q24.3		 uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
NM_020843.4(SCAPER):c.1432A>G (p.Ser478Gly) single nucleotide variant Inborn genetic diseases [RCV003219400] Chr15:76765626 [GRCh38]
Chr15:77057967 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1735G>T (p.Val579Phe) single nucleotide variant Inborn genetic diseases [RCV003262402] Chr15:76753939 [GRCh38]
Chr15:77046280 [GRCh37]
Chr15:15q24.3		 uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3		 pathogenic
NM_020843.4(SCAPER):c.4184T>C (p.Leu1395Ser) single nucleotide variant Inborn genetic diseases [RCV003378543] Chr15:76348652 [GRCh38]
Chr15:76640993 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3113G>A (p.Gly1038Glu) single nucleotide variant Inborn genetic diseases [RCV003344870] Chr15:76434276 [GRCh38]
Chr15:76726617 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.4019G>C (p.Ser1340Thr) single nucleotide variant Inborn genetic diseases [RCV003379524] Chr15:76353977 [GRCh38]
Chr15:76646318 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.4084C>G (p.Pro1362Ala) single nucleotide variant Inborn genetic diseases [RCV003373855] Chr15:76351252 [GRCh38]
Chr15:76643593 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.763C>T (p.Arg255Cys) single nucleotide variant Inborn genetic diseases [RCV003364799]|not provided [RCV004696530] Chr15:76795289 [GRCh38]
Chr15:77087630 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1621G>T (p.Ala541Ser) single nucleotide variant Inborn genetic diseases [RCV003372143] Chr15:76765065 [GRCh38]
Chr15:77057406 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3267dup (p.Ser1090fs) duplication SCAPER-related disorder [RCV003400295] Chr15:76434121..76434122 [GRCh38]
Chr15:76726462..76726463 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.195+6G>A single nucleotide variant not provided [RCV003400953] Chr15:76857803 [GRCh38]
Chr15:77150144 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3311G>A (p.Ser1104Asn) single nucleotide variant not provided [RCV003400950] Chr15:76434078 [GRCh38]
Chr15:76726419 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2511G>A (p.Glu837=) single nucleotide variant SCAPER-related disorder [RCV003938928]|not provided [RCV003411187] Chr15:76665787 [GRCh38]
Chr15:76958128 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3079-8T>C single nucleotide variant not provided [RCV003411186] Chr15:76434318 [GRCh38]
Chr15:76726659 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.2973C>A (p.Ile991=) single nucleotide variant not provided [RCV003400951] Chr15:76471317 [GRCh38]
Chr15:76763658 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.2444_2445dup (p.His816fs) duplication SCAPER-related disorder [RCV003397443] Chr15:76701820..76701821 [GRCh38]
Chr15:76994161..76994162 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.3861C>T (p.Ile1287=) single nucleotide variant not provided [RCV003400949] Chr15:76354135 [GRCh38]
Chr15:76646476 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.2775A>G (p.Ala925=) single nucleotide variant SCAPER-related disorder [RCV003929060]|not provided [RCV003400952] Chr15:76574221 [GRCh38]
Chr15:76866562 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.2364T>A (p.Tyr788Ter) single nucleotide variant Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV003989435] Chr15:76702886 [GRCh38]
Chr15:76995227 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.3969del (p.Ala1324fs) deletion Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV003991799] Chr15:76354027 [GRCh38]
Chr15:76646368 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1365A>G (p.Glu455=) single nucleotide variant not provided [RCV003884279] Chr15:76766972 [GRCh38]
Chr15:77059313 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.726C>T (p.Ala242=) single nucleotide variant SCAPER-related disorder [RCV003909717] Chr15:76795326 [GRCh38]
Chr15:77087667 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.627A>T (p.Thr209=) single nucleotide variant SCAPER-related disorder [RCV003924175] Chr15:76795425 [GRCh38]
Chr15:77087766 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.1866+8A>G single nucleotide variant SCAPER-related disorder [RCV003919786] Chr15:76753800 [GRCh38]
Chr15:77046141 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.2496A>G (p.Ser832=) single nucleotide variant SCAPER-related disorder [RCV003932287] Chr15:76701770 [GRCh38]
Chr15:76994111 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.1496-9T>C single nucleotide variant SCAPER-related disorder [RCV003927054] Chr15:76765463 [GRCh38]
Chr15:77057804 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.2622G>A (p.Lys874=) single nucleotide variant SCAPER-related disorder [RCV003949270] Chr15:76665676 [GRCh38]
Chr15:76958017 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.1473C>T (p.Asn491=) single nucleotide variant SCAPER-related disorder [RCV003971436] Chr15:76765585 [GRCh38]
Chr15:77057926 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.2712-7A>G single nucleotide variant SCAPER-related disorder [RCV003924029] Chr15:76574291 [GRCh38]
Chr15:76866632 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.1905G>A (p.Gln635=) single nucleotide variant SCAPER-related disorder [RCV003919525] Chr15:76733346 [GRCh38]
Chr15:77025687 [GRCh37]
Chr15:15q24.3		 benign
NM_020843.4(SCAPER):c.3844C>A (p.Pro1282Thr) single nucleotide variant SCAPER-related disorder [RCV004755247] Chr15:76376173 [GRCh38]
Chr15:76668514 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3200A>G (p.Asn1067Ser) single nucleotide variant SCAPER-related disorder [RCV003941912] Chr15:76434189 [GRCh38]
Chr15:76726530 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3986A>C (p.His1329Pro) single nucleotide variant SCAPER-related disorder [RCV004755486] Chr15:76354010 [GRCh38]
Chr15:76646351 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.909A>G (p.Val303=) single nucleotide variant SCAPER-related disorder [RCV004755668] Chr15:76774981 [GRCh38]
Chr15:77067322 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.495-4G>T single nucleotide variant SCAPER-related disorder [RCV004755673] Chr15:76800368 [GRCh38]
Chr15:77092709 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.1060G>T (p.Val354Leu) single nucleotide variant Inborn genetic diseases [RCV004452670] Chr15:76771930 [GRCh38]
Chr15:77064271 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1165C>T (p.Pro389Ser) single nucleotide variant Inborn genetic diseases [RCV004452671] Chr15:76771825 [GRCh38]
Chr15:77064166 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2458G>A (p.Val820Met) single nucleotide variant Inborn genetic diseases [RCV004452674] Chr15:76701808 [GRCh38]
Chr15:76994149 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2486G>A (p.Arg829His) single nucleotide variant Inborn genetic diseases [RCV004452675] Chr15:76701780 [GRCh38]
Chr15:76994121 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2558C>G (p.Thr853Arg) single nucleotide variant Inborn genetic diseases [RCV004452676] Chr15:76665740 [GRCh38]
Chr15:76958081 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.568A>G (p.Arg190Gly) single nucleotide variant Inborn genetic diseases [RCV004452684] Chr15:76800291 [GRCh38]
Chr15:77092632 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.652A>G (p.Thr218Ala) single nucleotide variant Inborn genetic diseases [RCV004452685] Chr15:76795400 [GRCh38]
Chr15:77087741 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2944A>G (p.Ile982Val) single nucleotide variant Inborn genetic diseases [RCV004452678]|SCAPER-related disorder [RCV004755040] Chr15:76504869 [GRCh38]
Chr15:76797210 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1684C>T (p.Arg562Cys) single nucleotide variant Inborn genetic diseases [RCV004452673] Chr15:76765002 [GRCh38]
Chr15:77057343 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3022G>A (p.Val1008Ile) single nucleotide variant Inborn genetic diseases [RCV004452680] Chr15:76471268 [GRCh38]
Chr15:76763609 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1600C>T (p.Pro534Ser) single nucleotide variant Inborn genetic diseases [RCV004452672] Chr15:76765350 [GRCh38]
Chr15:77057691 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2593C>T (p.Arg865Trp) single nucleotide variant Inborn genetic diseases [RCV004452677] Chr15:76665705 [GRCh38]
Chr15:76958046 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2966A>G (p.Asn989Ser) single nucleotide variant Inborn genetic diseases [RCV004452679] Chr15:76471324 [GRCh38]
Chr15:76763665 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3958T>C (p.Ser1320Pro) single nucleotide variant Inborn genetic diseases [RCV004452681] Chr15:76354038 [GRCh38]
Chr15:76646379 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3982A>C (p.Asn1328His) single nucleotide variant Inborn genetic diseases [RCV004452682] Chr15:76354014 [GRCh38]
Chr15:76646355 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.4174C>A (p.Gln1392Lys) single nucleotide variant Inborn genetic diseases [RCV004452683] Chr15:76348662 [GRCh38]
Chr15:76641003 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.965C>A (p.Ser322Tyr) single nucleotide variant Inborn genetic diseases [RCV004452687] Chr15:76774925 [GRCh38]
Chr15:77067266 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.689A>G (p.His230Arg) single nucleotide variant Inborn genetic diseases [RCV004452686]|SCAPER-related disorder [RCV004755041] Chr15:76795363 [GRCh38]
Chr15:77087704 [GRCh37]
Chr15:15q24.3		 uncertain significance
NC_000015.9:g.(?_74219125)_(77329517_?)del deletion Pyogenic arthritis-pyoderma gangrenosum-acne syndrome [RCV004583017] Chr15:74219125..77329517 [GRCh37]
Chr15:15q24.1-24.3		 uncertain significance
NM_020843.4(SCAPER):c.221C>T (p.Thr74Ile) single nucleotide variant Inborn genetic diseases [RCV004658648] Chr15:76841906 [GRCh38]
Chr15:77134247 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.212G>A (p.Cys71Tyr) single nucleotide variant Inborn genetic diseases [RCV004674537] Chr15:76841915 [GRCh38]
Chr15:77134256 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1378A>G (p.Asn460Asp) single nucleotide variant Inborn genetic diseases [RCV004674538] Chr15:76766959 [GRCh38]
Chr15:77059300 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1411G>A (p.Asp471Asn) single nucleotide variant Inborn genetic diseases [RCV004674539] Chr15:76766926 [GRCh38]
Chr15:77059267 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2582A>T (p.Asp861Val) single nucleotide variant Inborn genetic diseases [RCV004674540] Chr15:76665716 [GRCh38]
Chr15:76958057 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1091A>G (p.Tyr364Cys) single nucleotide variant Inborn genetic diseases [RCV004658649] Chr15:76771899 [GRCh38]
Chr15:77064240 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.724G>A (p.Ala242Thr) single nucleotide variant Inborn genetic diseases [RCV004674536]|SCAPER-related disorder [RCV004755054] Chr15:76795328 [GRCh38]
Chr15:77087669 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.2839-10T>G single nucleotide variant SCAPER-related disorder [RCV004755499] Chr15:76504984 [GRCh38]
Chr15:76797325 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.2247G>A (p.Lys749=) single nucleotide variant SCAPER-related disorder [RCV004755685] Chr15:76705903 [GRCh38]
Chr15:76998244 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.2464G>C (p.Glu822Gln) single nucleotide variant SCAPER-related disorder [RCV004732374] Chr15:76701802 [GRCh38]
Chr15:76994143 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.510A>C (p.Ala170=) single nucleotide variant SCAPER-related disorder [RCV004755336] Chr15:76800349 [GRCh38]
Chr15:77092690 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.306C>G (p.Tyr102Ter) single nucleotide variant SCAPER-related disorder [RCV004754191] Chr15:76841821 [GRCh38]
Chr15:77134162 [GRCh37]
Chr15:15q24.3		 likely pathogenic
NM_020843.4(SCAPER):c.3874C>T (p.Arg1292Cys) single nucleotide variant SCAPER-related disorder [RCV004754195] Chr15:76354122 [GRCh38]
Chr15:76646463 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1760T>C (p.Leu587Pro) single nucleotide variant SCAPER-related disorder [RCV004755629] Chr15:76753914 [GRCh38]
Chr15:77046255 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1426A>G (p.Met476Val) single nucleotide variant SCAPER-related disorder [RCV004730494] Chr15:76765632 [GRCh38]
Chr15:77057973 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1726-4G>A single nucleotide variant SCAPER-related disorder [RCV004755229] Chr15:76753952 [GRCh38]
Chr15:77046293 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.1036-9T>A single nucleotide variant SCAPER-related disorder [RCV004755298] Chr15:76771963 [GRCh38]
Chr15:77064304 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3178G>A (p.Val1060Ile) single nucleotide variant SCAPER-related disorder [RCV004755475] Chr15:76434211 [GRCh38]
Chr15:76726552 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3341A>C (p.Lys1114Thr) single nucleotide variant SCAPER-related disorder [RCV004755520] Chr15:76404650 [GRCh38]
Chr15:76696991 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.772+7G>T single nucleotide variant SCAPER-related disorder [RCV004754197] Chr15:76795273 [GRCh38]
Chr15:77087614 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.880T>C (p.Ser294Pro) single nucleotide variant not provided [RCV004773674] Chr15:76775010 [GRCh38]
Chr15:77067351 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1884T>A (p.Phe628Leu) single nucleotide variant SCAPER-related disorder [RCV004730501] Chr15:76733367 [GRCh38]
Chr15:77025708 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2346C>A (p.Ala782=) single nucleotide variant SCAPER-related disorder [RCV004755341] Chr15:76702904 [GRCh38]
Chr15:76995245 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.775C>T (p.Arg259Trp) single nucleotide variant SCAPER-related disorder [RCV004754163] Chr15:76775115 [GRCh38]
Chr15:77067456 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.802G>A (p.Val268Ile) single nucleotide variant SCAPER-related disorder [RCV004755419] Chr15:76775088 [GRCh38]
Chr15:77067429 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3143G>T (p.Gly1048Val) single nucleotide variant SCAPER-related disorder [RCV004755506] Chr15:76434246 [GRCh38]
Chr15:76726587 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.967A>C (p.Asn323His) single nucleotide variant SCAPER-related disorder [RCV004730488] Chr15:76774923 [GRCh38]
Chr15:77067264 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3476G>A (p.Ser1159Asn) single nucleotide variant SCAPER-related disorder [RCV004730612] Chr15:76381607 [GRCh38]
Chr15:76673948 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2846C>T (p.Ala949Val) single nucleotide variant SCAPER-related disorder [RCV004731811] Chr15:76504967 [GRCh38]
Chr15:76797308 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.720A>G (p.Thr240=) single nucleotide variant SCAPER-related disorder [RCV004732044] Chr15:76795332 [GRCh38]
Chr15:77087673 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.1218A>C (p.Glu406Asp) single nucleotide variant SCAPER-related disorder [RCV004732268] Chr15:76771772 [GRCh38]
Chr15:77064113 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3534C>T (p.Thr1178=) single nucleotide variant SCAPER-related disorder [RCV004755378] Chr15:76381549 [GRCh38]
Chr15:76673890 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.1420-8C>T single nucleotide variant SCAPER-related disorder [RCV004755485] Chr15:76765646 [GRCh38]
Chr15:77057987 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.2593C>G (p.Arg865Gly) single nucleotide variant SCAPER-related disorder [RCV004755665] Chr15:76665705 [GRCh38]
Chr15:76958046 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1082G>A (p.Arg361Gln) single nucleotide variant SCAPER-related disorder [RCV004755049] Chr15:76771908 [GRCh38]
Chr15:77064249 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.839C>T (p.Ala280Val) single nucleotide variant SCAPER-related disorder [RCV004755050] Chr15:76775051 [GRCh38]
Chr15:77067392 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3063G>A (p.Leu1021=) single nucleotide variant SCAPER-related disorder [RCV004730522] Chr15:76471227 [GRCh38]
Chr15:76763568 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3870C>T (p.Ser1290=) single nucleotide variant SCAPER-related disorder [RCV004755174] Chr15:76354126 [GRCh38]
Chr15:76646467 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3875G>A (p.Arg1292His) single nucleotide variant SCAPER-related disorder [RCV004755224] Chr15:76354121 [GRCh38]
Chr15:76646462 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1248+25A>G single nucleotide variant SCAPER-related disorder [RCV004755258] Chr15:76771717 [GRCh38]
Chr15:77064058 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3170G>A (p.Ser1057Asn) single nucleotide variant SCAPER-related disorder [RCV004755264] Chr15:76434219 [GRCh38]
Chr15:76726560 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3327G>A (p.Met1109Ile) single nucleotide variant SCAPER-related disorder [RCV004755408] Chr15:76404664 [GRCh38]
Chr15:76697005 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.2996A>G (p.Asn999Ser) single nucleotide variant SCAPER-related disorder [RCV004755550] Chr15:76471294 [GRCh38]
Chr15:76763635 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3445C>T (p.Leu1149=) single nucleotide variant SCAPER-related disorder [RCV004731462] Chr15:76404546 [GRCh38]
Chr15:76696887 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.1011C>T (p.Asp337=) single nucleotide variant SCAPER-related disorder [RCV004732202] Chr15:76774879 [GRCh38]
Chr15:77067220 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.3443C>T (p.Thr1148Ile) single nucleotide variant SCAPER-related disorder [RCV004755051] Chr15:76404548 [GRCh38]
Chr15:76696889 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3274G>A (p.Gly1092Ser) single nucleotide variant SCAPER-related disorder [RCV004754192] Chr15:76434115 [GRCh38]
Chr15:76726456 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.3926G>T (p.Ser1309Ile) single nucleotide variant SCAPER-related disorder [RCV004754171] Chr15:76354070 [GRCh38]
Chr15:76646411 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_020843.4(SCAPER):c.1496-4A>G single nucleotide variant SCAPER-related disorder [RCV004754180] Chr15:76765458 [GRCh38]
Chr15:77057799 [GRCh37]
Chr15:15q24.3		 likely benign
NM_020843.4(SCAPER):c.2384C>T (p.Ser795Phe) single nucleotide variant SCAPER-related disorder [RCV004754225] Chr15:76702866 [GRCh38]
Chr15:76995207 [GRCh37]
Chr15:15q24.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2906
Count of miRNA genes:1104
Interacting mature miRNAs:1373
Transcripts:ENST00000303521, ENST00000324767, ENST00000538941, ENST00000562890, ENST00000562948, ENST00000563246, ENST00000563290, ENST00000563688, ENST00000563919, ENST00000564022, ENST00000564177, ENST00000564590, ENST00000564757, ENST00000565372, ENST00000565507, ENST00000565970, ENST00000567601, ENST00000567618, ENST00000568382, ENST00000568428, ENST00000568549, ENST00000569395, ENST00000569784
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407193223GWAS842199_Hpeptide measurement QTL GWAS842199 (human)0.00001peptide metabolism trait (VT:0010634)157650049876500499Human
407090752GWAS739728_Hlate-onset Alzheimers disease QTL GWAS739728 (human)0.000003late-onset Alzheimers disease157671382276713823Human
407264129GWAS913105_Hclostridium difficile infection QTL GWAS913105 (human)0.000007clostridium difficile infection157688551476885515Human
407016778GWAS665754_Hurate measurement QTL GWAS665754 (human)4e-09urate measurementblood uric acid level (CMO:0000501)157652337276523373Human
406943754GWAS592730_Hcoronary thrombosis, GM11992 QTL GWAS592730 (human)0.000009coronary thrombosis, GM11992157648098576480986Human
407294602GWAS943578_Hbrain measurement QTL GWAS943578 (human)2e-12brain measurementbrain measurement (CMO:0000911)157650774376507744Human
406921164GWAS570140_Hsubstance abuse, antisocial behaviour measurement QTL GWAS570140 (human)0.0000003substance abuse, antisocial behaviour measurement157648148976481490Human
407342984GWAS991960_Hurate measurement QTL GWAS991960 (human)4e-13urate measurementblood uric acid level (CMO:0000501)157653594876535949Human
407076818GWAS725794_Hlate-onset Alzheimers disease QTL GWAS725794 (human)0.000002late-onset Alzheimers disease157635268676352687Human
406984659GWAS633635_Hbitter alcoholic beverage consumption measurement QTL GWAS633635 (human)0.000006bitter alcoholic beverage consumption measurementdrink intake measurement (CMO:0000771)157662785676627857Human
407160021GWAS808997_Hisobutyrylcarnitine measurement QTL GWAS808997 (human)4e-13isobutyrylcarnitine measurement157673845176738452Human
407175511GWAS824487_Happendicular lean mass QTL GWAS824487 (human)2e-09appendicular lean mass157642564876425649Human
407190032GWAS839008_HFEV/FVC ratio QTL GWAS839008 (human)3e-12FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)157654931476549315Human
407275795GWAS924771_Hbody height QTL GWAS924771 (human)3e-46body height (VT:0001253)body height (CMO:0000106)157655006076550061Human
407074901GWAS723877_Hglomerular filtration rate QTL GWAS723877 (human)2e-15glomerular filtration rateglomerular filtration rate (CMO:0000490)157652544776525448Human
407129950GWAS778926_Hschizophrenia QTL GWAS778926 (human)0.000005schizophrenia157640824876408249Human
407092636GWAS741612_Hacute myeloid leukemia QTL GWAS741612 (human)3e-22acute myeloid leukemia157673845176738452Human
407316964GWAS965940_Halcohol consumption measurement QTL GWAS965940 (human)8e-11alcohol consumption measurementethanol drink intake rate (CMO:0001407)157652410776524109Human
407276069GWAS925045_Hbody height QTL GWAS925045 (human)9e-166body height (VT:0001253)body height (CMO:0000106)157676552376765524Human
407038246GWAS687222_Hwhite matter microstructure measurement QTL GWAS687222 (human)0.000005white matter microstructure measurement157671508176715082Human
407321698GWAS970674_Hglomerular filtration rate QTL GWAS970674 (human)3e-17glomerular filtration rateglomerular filtration rate (CMO:0000490)157650983476509835Human
407382830GWAS1031806_Hobsolete_red blood cell distribution width QTL GWAS1031806 (human)2e-09obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)157660751576607516Human
407291887GWAS940863_Halcohol consumption measurement QTL GWAS940863 (human)6e-15alcohol consumption measurementethanol drink intake rate (CMO:0001407)157643082976430830Human
407330796GWAS979772_HAlzheimer disease, polygenic risk score QTL GWAS979772 (human)5e-23Alzheimer disease, polygenic risk score157647972176479722Human
407083240GWAS732216_Hglomerular filtration rate QTL GWAS732216 (human)5e-13glomerular filtration rateglomerular filtration rate (CMO:0000490)157650983476509835Human
406939626GWAS588602_Hobstructive sleep apnea QTL GWAS588602 (human)7e-09obstructive sleep apnea157656912076569121Human
407037998GWAS686974_HDental enamel hypoplasia QTL GWAS686974 (human)0.000003Dental enamel hypoplasia157643254176432542Human
406938285GWAS587261_Hobstructive sleep apnea QTL GWAS587261 (human)1e-08obstructive sleep apnea157648523676485237Human
406992626GWAS641602_Hdiverticular disease QTL GWAS641602 (human)0.0000001diverticular disease157653366276533663Human
407098676GWAS747652_Hacute myeloid leukemia QTL GWAS747652 (human)7e-10acute myeloid leukemia157673845176738452Human
406931321GWAS580297_Hmeningitis QTL GWAS580297 (human)8e-11meningitis157648946576489466Human
407341565GWAS990541_Hurate measurement QTL GWAS990541 (human)7e-13urate measurementblood uric acid level (CMO:0000501)157652337276523373Human
407039807GWAS688783_Hrecalcitrant atopic dermatitis QTL GWAS688783 (human)0.0000003recalcitrant atopic dermatitis157681251576812516Human
407127162GWAS776138_HCleft palate QTL GWAS776138 (human)2e-10Cleft palate157638137576381376Human

Markers in Region
D15S114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,865,195 - 76,865,371UniSTSGRCh37
GRCh371576,865,204 - 76,865,370UniSTSGRCh37
Build 361574,652,250 - 74,652,426RGDNCBI36
Celera1553,792,429 - 53,792,595UniSTS
Celera1553,792,420 - 53,792,596RGD
Cytogenetic Map15q21-q25UniSTS
Cytogenetic Map15q24UniSTS
HuRef1553,622,054 - 53,622,228UniSTS
HuRef1553,622,045 - 53,622,229UniSTS
Marshfield Genetic Map1572.94UniSTS
Marshfield Genetic Map1572.94RGD
Genethon Genetic Map1572.3UniSTS
TNG Radiation Hybrid Map1529386.0UniSTS
deCODE Assembly Map1580.36UniSTS
Stanford-G3 RH Map152684.0UniSTS
GeneMap99-GB4 RH Map15265.55UniSTS
Whitehead-RH Map15247.6UniSTS
Whitehead-YAC Contig Map15 UniSTS
GeneMap99-G3 RH Map152679.0UniSTS
Z94581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372025,660,034 - 25,660,199UniSTSGRCh37
GRCh371576,719,630 - 76,719,803UniSTSGRCh37
Build 361574,506,685 - 74,506,858RGDNCBI36
Celera2025,733,649 - 25,733,814UniSTS
Celera1553,646,873 - 53,647,046RGD
Cytogenetic Map20p11.1UniSTS
Cytogenetic Map15q24UniSTS
HuRef2025,617,859 - 25,618,024UniSTS
HuRef1553,476,479 - 53,476,652UniSTS
RH91340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,659,852 - 76,659,979UniSTSGRCh37
Build 361574,446,907 - 74,447,034RGDNCBI36
Celera1553,586,069 - 53,586,196RGD
Cytogenetic Map15q24UniSTS
HuRef1553,416,843 - 53,416,970UniSTS
GeneMap99-GB4 RH Map15270.05UniSTS
RH93976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,765,525 - 76,765,653UniSTSGRCh37
Build 361574,552,580 - 74,552,708RGDNCBI36
Celera1553,692,769 - 53,692,897RGD
Cytogenetic Map15q24UniSTS
HuRef1553,522,404 - 53,522,532UniSTS
GeneMap99-GB4 RH Map15265.55UniSTS
SHGC-81874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,696,789 - 76,697,085UniSTSGRCh37
Build 361574,483,844 - 74,484,140RGDNCBI36
Celera1553,624,032 - 53,624,328RGD
Cytogenetic Map15q24UniSTS
HuRef1553,453,635 - 53,453,931UniSTS
TNG Radiation Hybrid Map1529442.0UniSTS
RH119435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371577,062,791 - 77,063,117UniSTSGRCh37
Build 361574,849,846 - 74,850,172RGDNCBI36
Celera1553,994,153 - 53,994,479RGD
Cytogenetic Map15q24UniSTS
HuRef1553,819,607 - 53,819,933UniSTS
TNG Radiation Hybrid Map1529248.0UniSTS
SHGC-112341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,669,806 - 76,670,086UniSTSGRCh37
Build 361574,456,861 - 74,457,141RGDNCBI36
Celera1553,596,016 - 53,596,296RGD
Cytogenetic Map15q24UniSTS
HuRef1553,426,640 - 53,426,920UniSTS
TNG Radiation Hybrid Map1529446.0UniSTS
SHGC-106495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,936,859 - 76,937,139UniSTSGRCh37
Build 361574,723,914 - 74,724,194RGDNCBI36
Celera1553,868,200 - 53,868,480RGD
Cytogenetic Map15q24UniSTS
HuRef1553,693,658 - 53,693,938UniSTS
TNG Radiation Hybrid Map1529303.0UniSTS
SHGC-146203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,940,446 - 76,940,730UniSTSGRCh37
Build 361574,727,501 - 74,727,785RGDNCBI36
Celera1553,871,787 - 53,872,071RGD
Cytogenetic Map15q24UniSTS
HuRef1553,697,245 - 53,697,530UniSTS
TNG Radiation Hybrid Map1529315.0UniSTS
WI-21800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,640,566 - 76,640,765UniSTSGRCh37
Build 361574,427,621 - 74,427,820RGDNCBI36
Celera1553,566,787 - 53,566,986RGD
Cytogenetic Map15q24UniSTS
HuRef1553,397,543 - 53,397,742UniSTS
GeneMap99-GB4 RH Map15265.55UniSTS
Whitehead-RH Map15282.8UniSTS
SHGC-37692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,660,092 - 76,660,197UniSTSGRCh37
Build 361574,447,147 - 74,447,252RGDNCBI36
Celera1553,586,309 - 53,586,414RGD
Cytogenetic Map15q24UniSTS
HuRef1553,417,083 - 53,417,188UniSTS
TNG Radiation Hybrid Map1529450.0UniSTS
GeneMap99-G3 RH Map152518.0UniSTS
SHGC-111446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371577,008,486 - 77,008,684UniSTSGRCh37
Build 361574,795,541 - 74,795,739RGDNCBI36
Celera1553,939,843 - 53,940,041RGD
Cytogenetic Map15q24UniSTS
HuRef1553,765,302 - 53,765,500UniSTS
TNG Radiation Hybrid Map1529278.0UniSTS
G17864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,724,427 - 76,724,545UniSTSGRCh37
Build 361574,511,482 - 74,511,600RGDNCBI36
Celera1553,651,670 - 53,651,788RGD
Cytogenetic Map15q24UniSTS
HuRef1553,481,299 - 53,481,417UniSTS
A004S31  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371577,141,271 - 77,141,421UniSTSGRCh37
Build 361574,928,326 - 74,928,476RGDNCBI36
Celera1554,072,640 - 54,072,790RGD
Cytogenetic Map15q24UniSTS
HuRef1553,898,210 - 53,898,360UniSTS
GeneMap99-GB4 RH Map15268.71UniSTS
Whitehead-RH Map15301.5UniSTS
D15S833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,727,663 - 76,727,817UniSTSGRCh37
Build 361574,514,718 - 74,514,872RGDNCBI36
Celera1553,654,906 - 53,655,060RGD
Cytogenetic Map15q24UniSTS
HuRef1553,484,535 - 53,484,689UniSTS
Whitehead-YAC Contig Map15 UniSTS
G20765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,640,604 - 76,640,854UniSTSGRCh37
Build 361574,427,659 - 74,427,909RGDNCBI36
Celera1553,566,825 - 53,567,075RGD
Cytogenetic Map15q24UniSTS
HuRef1553,397,581 - 53,397,831UniSTS
A006F29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,640,604 - 76,640,854UniSTSGRCh37
Build 361574,427,659 - 74,427,909RGDNCBI36
Celera1553,566,825 - 53,567,075RGD
Cytogenetic Map15q24UniSTS
HuRef1553,397,581 - 53,397,831UniSTS
GeneMap99-GB4 RH Map15265.55UniSTS
G30961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,640,609 - 76,640,752UniSTSGRCh37
Build 361574,427,664 - 74,427,807RGDNCBI36
Celera1553,566,830 - 53,566,973RGD
Cytogenetic Map15q24UniSTS
HuRef1553,397,586 - 53,397,729UniSTS
D15S825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,957,521 - 76,957,723UniSTSGRCh37
Build 361574,744,576 - 74,744,778RGDNCBI36
Celera1553,888,888 - 53,889,090RGD
Cytogenetic Map15q24UniSTS
HuRef1553,714,333 - 53,714,535UniSTS
Whitehead-RH Map15279.9UniSTS
Whitehead-YAC Contig Map15 UniSTS
D15S114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q24UniSTS
TNG Radiation Hybrid Map1529386.0UniSTS
Stanford-G3 RH Map152684.0UniSTS
GeneMap99-G3 RH Map152679.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2252 4972 1726 2350 5 624 1950 465 2269 7302 6469 52 3734 1 852 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005254417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB040887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC051643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF119814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF242528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000303521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,379,709 - 76,905,403 (-)Ensembl
Ensembl Acc Id: ENST00000324767   ⟹   ENSP00000326924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,348,188 - 76,883,876 (-)Ensembl
Ensembl Acc Id: ENST00000538941   ⟹   ENSP00000442190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,348,185 - 76,861,944 (-)Ensembl
Ensembl Acc Id: ENST00000562890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,774,932 - 76,797,543 (-)Ensembl
Ensembl Acc Id: ENST00000562948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,348,197 - 76,354,651 (-)Ensembl
Ensembl Acc Id: ENST00000563246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,348,453 - 76,354,547 (-)Ensembl
Ensembl Acc Id: ENST00000563290   ⟹   ENSP00000454973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,347,904 - 76,905,340 (-)Ensembl
Ensembl Acc Id: ENST00000563688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,471,096 - 76,621,829 (-)Ensembl
Ensembl Acc Id: ENST00000563919   ⟹   ENSP00000455231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,841,792 - 76,905,367 (-)Ensembl
Ensembl Acc Id: ENST00000564022   ⟹   ENSP00000456987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,766,980 - 76,775,064 (-)Ensembl
Ensembl Acc Id: ENST00000564177   ⟹   ENSP00000457382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,800,275 - 76,905,349 (-)Ensembl
Ensembl Acc Id: ENST00000564590   ⟹   ENSP00000456508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,702,966 - 76,905,444 (-)Ensembl
Ensembl Acc Id: ENST00000564757   ⟹   ENSP00000457234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,434,260 - 76,665,658 (-)Ensembl
Ensembl Acc Id: ENST00000565372   ⟹   ENSP00000455751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,795,392 - 76,905,349 (-)Ensembl
Ensembl Acc Id: ENST00000565507   ⟹   ENSP00000455623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,702,966 - 76,905,337 (-)Ensembl
Ensembl Acc Id: ENST00000565970   ⟹   ENSP00000455378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,705,926 - 76,905,279 (-)Ensembl
Ensembl Acc Id: ENST00000567601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,381,564 - 76,385,251 (-)Ensembl
Ensembl Acc Id: ENST00000567618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,771,883 - 76,797,608 (-)Ensembl
Ensembl Acc Id: ENST00000568382   ⟹   ENSP00000456065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,795,304 - 76,905,351 (-)Ensembl
Ensembl Acc Id: ENST00000568428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,434,181 - 76,576,951 (-)Ensembl
Ensembl Acc Id: ENST00000568549   ⟹   ENSP00000457434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,771,813 - 76,800,267 (-)Ensembl
Ensembl Acc Id: ENST00000569395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,434,133 - 76,498,597 (-)Ensembl
Ensembl Acc Id: ENST00000569784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1576,471,262 - 76,576,985 (-)Ensembl
RefSeq Acc Id: NM_001145923   ⟹   NP_001139395
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,861,944 (-)NCBI
GRCh371576,640,526 - 77,197,796 (-)NCBI
Celera1553,566,747 - 54,107,576 (-)RGD
HuRef1553,397,503 - 53,933,142 (-)RGD
CHM1_11576,759,947 - 77,272,483 (-)NCBI
T2T-CHM13v2.01574,219,067 - 74,721,011 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353009   ⟹   NP_001339938
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,905,340 (-)NCBI
T2T-CHM13v2.01574,219,067 - 74,764,374 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353010   ⟹   NP_001339939
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,905,340 (-)NCBI
T2T-CHM13v2.01574,219,067 - 74,764,374 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353011   ⟹   NP_001339940
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,905,340 (-)NCBI
T2T-CHM13v2.01574,219,067 - 74,764,374 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353012   ⟹   NP_001339941
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,905,340 (-)NCBI
T2T-CHM13v2.01574,219,067 - 74,764,374 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020843   ⟹   NP_065894
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,905,340 (-)NCBI
GRCh371576,640,526 - 77,197,796 (-)NCBI
Build 361574,427,592 - 74,963,247 (-)NCBI Archive
Celera1553,566,747 - 54,107,576 (-)RGD
HuRef1553,397,503 - 53,933,142 (-)RGD
CHM1_11576,759,947 - 77,294,404 (-)NCBI
T2T-CHM13v2.01574,219,067 - 74,764,374 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148227
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,905,340 (-)NCBI
T2T-CHM13v2.01574,219,067 - 74,764,374 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521653   ⟹   XP_011519955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,905,340 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521656   ⟹   XP_011519958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,739,411 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022273   ⟹   XP_016877762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,905,340 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022283   ⟹   XP_016877772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,697,044 - 76,883,876 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449940   ⟹   XP_024305708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,461,496 - 76,905,340 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449941   ⟹   XP_024305709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,457,420 - 76,905,340 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449942   ⟹   XP_024305710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,457,420 - 76,905,340 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449944   ⟹   XP_024305712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,697,044 - 76,905,340 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432620   ⟹   XP_047288576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,905,340 (-)NCBI
RefSeq Acc Id: XM_047432621   ⟹   XP_047288577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,905,340 (-)NCBI
RefSeq Acc Id: XM_047432622   ⟹   XP_047288578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,905,340 (-)NCBI
RefSeq Acc Id: XM_047432623   ⟹   XP_047288579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,905,340 (-)NCBI
RefSeq Acc Id: XM_047432624   ⟹   XP_047288580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,905,340 (-)NCBI
RefSeq Acc Id: XM_047432625   ⟹   XP_047288581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,905,340 (-)NCBI
RefSeq Acc Id: XM_047432626   ⟹   XP_047288582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,883,876 (-)NCBI
RefSeq Acc Id: XM_047432627   ⟹   XP_047288583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,793,362 (-)NCBI
RefSeq Acc Id: XM_047432628   ⟹   XP_047288584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,457,420 - 76,905,340 (-)NCBI
RefSeq Acc Id: XM_047432629   ⟹   XP_047288585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,435,044 - 76,905,340 (-)NCBI
RefSeq Acc Id: XM_047432630   ⟹   XP_047288586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,567,270 - 76,905,340 (-)NCBI
RefSeq Acc Id: XM_047432631   ⟹   XP_047288587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,697,044 - 76,905,340 (-)NCBI
RefSeq Acc Id: XM_047432632   ⟹   XP_047288588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,697,044 - 76,905,340 (-)NCBI
RefSeq Acc Id: XM_047432633   ⟹   XP_047288589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,347,904 - 76,732,242 (-)NCBI
RefSeq Acc Id: XM_047432634   ⟹   XP_047288590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,733,319 - 76,905,340 (-)NCBI
RefSeq Acc Id: XM_054378104   ⟹   XP_054234079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,219,067 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378105   ⟹   XP_054234080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,219,067 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378106   ⟹   XP_054234081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,219,067 - 74,764,338 (-)NCBI
RefSeq Acc Id: XM_054378107   ⟹   XP_054234082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,219,067 - 74,764,338 (-)NCBI
RefSeq Acc Id: XM_054378108   ⟹   XP_054234083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,219,067 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378109   ⟹   XP_054234084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,219,067 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378110   ⟹   XP_054234085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,219,067 - 74,742,918 (-)NCBI
RefSeq Acc Id: XM_054378111   ⟹   XP_054234086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,219,067 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378112   ⟹   XP_054234087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,219,067 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378113   ⟹   XP_054234088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,219,067 - 74,652,171 (-)NCBI
RefSeq Acc Id: XM_054378114   ⟹   XP_054234089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,332,944 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378115   ⟹   XP_054234090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,329,009 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378116   ⟹   XP_054234091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,329,009 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378117   ⟹   XP_054234092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,329,010 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378118   ⟹   XP_054234093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,306,202 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378119   ⟹   XP_054234094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,438,443 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378120   ⟹   XP_054234095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,553,428 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378121   ⟹   XP_054234096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,553,428 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378122   ⟹   XP_054234097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,553,428 - 74,742,918 (-)NCBI
RefSeq Acc Id: XM_054378123   ⟹   XP_054234098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,219,067 - 74,598,230 (-)NCBI
RefSeq Acc Id: XM_054378124   ⟹   XP_054234099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,553,428 - 74,764,374 (-)NCBI
RefSeq Acc Id: XM_054378125   ⟹   XP_054234100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,219,067 - 74,591,060 (-)NCBI
RefSeq Acc Id: XM_054378126   ⟹   XP_054234101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01574,592,111 - 74,764,374 (-)NCBI
RefSeq Acc Id: XR_007064448
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,457,420 - 76,905,340 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001139395 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339938 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339939 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339940 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339941 (Get FASTA)   NCBI Sequence Viewer  
  NP_065894 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519955 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519958 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877762 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877772 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305708 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305709 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305710 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305712 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288576 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288577 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288578 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288579 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288580 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288581 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288582 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288583 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288584 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288585 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288586 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288587 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288588 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288589 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288590 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234079 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234080 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234081 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234082 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234083 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234084 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234085 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234086 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234087 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234088 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234089 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234090 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234091 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234092 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234093 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234094 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234095 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234096 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234097 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234098 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234099 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234100 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234101 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG47945 (Get FASTA)   NCBI Sequence Viewer  
  AAH15212 (Get FASTA)   NCBI Sequence Viewer  
  AAH70197 (Get FASTA)   NCBI Sequence Viewer  
  AAI07416 (Get FASTA)   NCBI Sequence Viewer  
  AAK29205 (Get FASTA)   NCBI Sequence Viewer  
  AAP35408 (Get FASTA)   NCBI Sequence Viewer  
  BAA95978 (Get FASTA)   NCBI Sequence Viewer  
  CAB70841 (Get FASTA)   NCBI Sequence Viewer  
  EAW99217 (Get FASTA)   NCBI Sequence Viewer  
  EAW99218 (Get FASTA)   NCBI Sequence Viewer  
  EAW99219 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000326924.7
  ENSP00000442190
  ENSP00000442190.2
  ENSP00000454973
  ENSP00000454973.1
  ENSP00000455231.1
  ENSP00000455378.1
  ENSP00000455623.1
  ENSP00000455751.1
  ENSP00000456065.1
  ENSP00000456508
  ENSP00000456508.1
  ENSP00000456987.1
  ENSP00000457234.1
  ENSP00000457382.1
  ENSP00000457434.1
GenBank Protein Q9BY12 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_065894   ⟸   NM_020843
- Peptide Label: isoform a
- UniProtKB: Q9NT03 (UniProtKB/Swiss-Prot),   Q9H3D8 (UniProtKB/Swiss-Prot),   Q96BS9 (UniProtKB/Swiss-Prot),   Q3B7X7 (UniProtKB/Swiss-Prot),   H3BNR7 (UniProtKB/Swiss-Prot),   F5H7X8 (UniProtKB/Swiss-Prot),   Q9P274 (UniProtKB/Swiss-Prot),   Q9BY12 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139395   ⟸   NM_001145923
- Peptide Label: isoform b
- UniProtKB: Q9BY12 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519955   ⟸   XM_011521653
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011519958   ⟸   XM_011521656
- Peptide Label: isoform X20
- Sequence:
RefSeq Acc Id: XP_016877762   ⟸   XM_017022273
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016877772   ⟸   XM_017022283
- Peptide Label: isoform X19
- UniProtKB: H3BS25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339940   ⟸   NM_001353011
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001339941   ⟸   NM_001353012
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001339938   ⟸   NM_001353009
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001339939   ⟸   NM_001353010
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: XP_024305710   ⟸   XM_024449942
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_024305709   ⟸   XM_024449941
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_024305708   ⟸   XM_024449940
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_024305712   ⟸   XM_024449944
- Peptide Label: isoform X17
- Sequence:
Ensembl Acc Id: ENSP00000326924   ⟸   ENST00000324767
Ensembl Acc Id: ENSP00000454973   ⟸   ENST00000563290
Ensembl Acc Id: ENSP00000455231   ⟸   ENST00000563919
Ensembl Acc Id: ENSP00000442190   ⟸   ENST00000538941
Ensembl Acc Id: ENSP00000456987   ⟸   ENST00000564022
Ensembl Acc Id: ENSP00000457382   ⟸   ENST00000564177
Ensembl Acc Id: ENSP00000457234   ⟸   ENST00000564757
Ensembl Acc Id: ENSP00000456508   ⟸   ENST00000564590
Ensembl Acc Id: ENSP00000455751   ⟸   ENST00000565372
Ensembl Acc Id: ENSP00000455623   ⟸   ENST00000565507
Ensembl Acc Id: ENSP00000455378   ⟸   ENST00000565970
Ensembl Acc Id: ENSP00000456065   ⟸   ENST00000568382
Ensembl Acc Id: ENSP00000457434   ⟸   ENST00000568549
RefSeq Acc Id: XP_047288581   ⟸   XM_047432625
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047288577   ⟸   XM_047432621
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047288580   ⟸   XM_047432624
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047288576   ⟸   XM_047432620
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047288579   ⟸   XM_047432623
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047288578   ⟸   XM_047432622
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047288582   ⟸   XM_047432626
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047288583   ⟸   XM_047432627
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047288589   ⟸   XM_047432633
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047288585   ⟸   XM_047432629
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047288584   ⟸   XM_047432628
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047288586   ⟸   XM_047432630
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047288588   ⟸   XM_047432632
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047288587   ⟸   XM_047432631
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047288590   ⟸   XM_047432634
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054234087   ⟸   XM_054378112
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054234086   ⟸   XM_054378111
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054234084   ⟸   XM_054378109
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054234080   ⟸   XM_054378105
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054234083   ⟸   XM_054378108
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054234079   ⟸   XM_054378104
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054234082   ⟸   XM_054378107
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054234081   ⟸   XM_054378106
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054234085   ⟸   XM_054378110
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054234088   ⟸   XM_054378113
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054234098   ⟸   XM_054378123
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054234100   ⟸   XM_054378125
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054234093   ⟸   XM_054378118
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054234091   ⟸   XM_054378116
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054234090   ⟸   XM_054378115
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054234092   ⟸   XM_054378117
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054234089   ⟸   XM_054378114
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054234094   ⟸   XM_054378119
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054234099   ⟸   XM_054378124
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054234096   ⟸   XM_054378121
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054234095   ⟸   XM_054378120
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054234097   ⟸   XM_054378122
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054234101   ⟸   XM_054378126
- Peptide Label: isoform X23
Protein Domains
S phase cyclin A-associated protein in the

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BY12-F1-model_v2 AlphaFold Q9BY12 1-1400 view protein structure

Promoters
RGD ID:7230189
Promoter ID:EPDNEW_H20839
Type:multiple initiation site
Name:SCAPER_2
Description:S-phase cyclin A associated protein in the ER
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20848  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,883,880 - 76,883,940EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13081 AgrOrtholog
COSMIC SCAPER COSMIC
Ensembl Genes ENSG00000140386 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000324767.11 UniProtKB/Swiss-Prot
  ENST00000538941 ENTREZGENE
  ENST00000538941.6 UniProtKB/Swiss-Prot
  ENST00000563290 ENTREZGENE
  ENST00000563290.6 UniProtKB/Swiss-Prot
  ENST00000563919.1 UniProtKB/TrEMBL
  ENST00000564022.1 UniProtKB/TrEMBL
  ENST00000564177.1 UniProtKB/TrEMBL
  ENST00000564590 ENTREZGENE
  ENST00000564590.5 UniProtKB/TrEMBL
  ENST00000564757.5 UniProtKB/TrEMBL
  ENST00000565372.5 UniProtKB/TrEMBL
  ENST00000565507.5 UniProtKB/TrEMBL
  ENST00000565970.5 UniProtKB/TrEMBL
  ENST00000568382.5 UniProtKB/TrEMBL
  ENST00000568549.5 UniProtKB/TrEMBL
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000140386 GTEx
HGNC ID HGNC:13081 ENTREZGENE
Human Proteome Map SCAPER Human Proteome Map
InterPro Matrin/U1-like-C_Znf_C2H2 UniProtKB/Swiss-Prot
  SCAPER_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:49855 UniProtKB/Swiss-Prot
NCBI Gene 49855 ENTREZGENE
OMIM 611611 OMIM
PANTHER S PHASE CYCLIN A-ASSOCIATED PROTEIN IN THE ENDOPLASMIC RETICULUM UniProtKB/Swiss-Prot
  S PHASE CYCLIN A-ASSOCIATED PROTEIN IN THE ENDOPLASMIC RETICULUM UniProtKB/Swiss-Prot
  S PHASE CYCLIN A-ASSOCIATED PROTEIN IN THE ENDOPLASMIC RETICULUM UniProtKB/TrEMBL
  S PHASE CYCLIN A-ASSOCIATED PROTEIN IN THE ENDOPLASMIC RETICULUM UniProtKB/TrEMBL
Pfam SCAPER_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-met UniProtKB/Swiss-Prot
PharmGKB PA162402512 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
SMART ZnF_U1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot
UniProt F5H7X8 ENTREZGENE
  H3BNR7 ENTREZGENE
  H3BPB0_HUMAN UniProtKB/TrEMBL
  H3BPM0_HUMAN UniProtKB/TrEMBL
  H3BQ61_HUMAN UniProtKB/TrEMBL
  H3BQF3_HUMAN UniProtKB/TrEMBL
  H3BR40_HUMAN UniProtKB/TrEMBL
  H3BS25 ENTREZGENE, UniProtKB/TrEMBL
  H3BT27_HUMAN UniProtKB/TrEMBL
  H3BTL8_HUMAN UniProtKB/TrEMBL
  H3BTY2_HUMAN UniProtKB/TrEMBL
  H3BU24_HUMAN UniProtKB/TrEMBL
  Q3B7X7 ENTREZGENE
  Q6NSF1_HUMAN UniProtKB/TrEMBL
  Q96BS9 ENTREZGENE
  Q9BY12 ENTREZGENE
  Q9H3D8 ENTREZGENE
  Q9NT03 ENTREZGENE
  Q9P274 ENTREZGENE
  SCAPE_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary F5H7X8 UniProtKB/Swiss-Prot
  H3BNR7 UniProtKB/Swiss-Prot
  Q3B7X7 UniProtKB/Swiss-Prot
  Q96BS9 UniProtKB/Swiss-Prot
  Q9H3D8 UniProtKB/Swiss-Prot
  Q9NT03 UniProtKB/Swiss-Prot
  Q9P274 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-19 SCAPER  S-phase cyclin A associated protein in the ER    S-phase cyclin A-associated protein in the ER  Symbol and/or name change 5135510 APPROVED