STRA6 (signaling receptor and transporter of retinol STRA6) - Rat Genome Database

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Gene: STRA6 (signaling receptor and transporter of retinol STRA6) Homo sapiens
Analyze
Symbol: STRA6
Name: signaling receptor and transporter of retinol STRA6
RGD ID: 1347443
HGNC Page HGNC:30650
Description: Enables retinol transmembrane transporter activity. Involved in several processes, including camera-type eye development; circulatory system development; and respiratory system development. Located in plasma membrane. Part of protein-containing complex. Implicated in syndromic microphthalmia 9. Biomarker of colorectal adenocarcinoma and exfoliation syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ12541; MCOPCB8; MCOPS9; PP14296; RBP receptor; receptor for retinol uptake STRA6; retinol binding protein 4 receptor; retinol-binding protein receptor STRA6; SLC69A1; stimulated by retinoic acid 6; stimulated by retinoic acid 6 homolog; stimulated by retinoic acid gene 6 homolog; stimulated by retinoic acid gene 6 protein homolog
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
GRCh381574,179,466 - 74,212,259 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1574,179,466 - 74,212,267 (-)Ensemblhg38GRCh38
GRCh371574,471,807 - 74,502,046 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,258,860 - 72,282,245 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341572,258,862 - 72,282,245NCBI
Celera1551,418,988 - 51,448,552 (-)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1551,265,478 - 51,295,736 (-)NCBIHuRef
CHM1_11574,590,002 - 74,620,238 (-)NCBICHM1_1
T2T-CHM13v2.01572,045,386 - 72,078,184 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP)
amitrole  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cefaloridine  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (EXP)
D-glucose  (ISO)
DDE  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
glucose  (ISO)
hydrogen sulfide  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
malathion  (EXP)
mercury dichloride  (ISO)
methamphetamine  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
ochratoxin A  (ISO)
paclitaxel  (ISO)
panobinostat  (EXP)
pentane-2,3-dione  (ISO)
permethrin  (EXP)
pirinixic acid  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
SCH 23390  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sulfadimethoxine  (ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
thapsigargin  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,TAS)
protein-containing complex  (IDA)

Molecular Function

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

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal lung morphology  (IAGP)
Abnormal spleen morphology  (IAGP)
Abnormality of the uterus  (IAGP)
Agenesis of pulmonary vessels  (IAGP)
Alveolar capillary dysplasia  (IAGP)
Annular pancreas  (IAGP)
Anophthalmia  (IAGP)
Aplasia/Hypoplasia of the pancreas  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bicornuate uterus  (IAGP)
Bilateral lung agenesis  (IAGP)
Bilateral microphthalmos  (IAGP)
Blepharophimosis  (IAGP)
Coarctation of aorta  (IAGP)
Coloboma  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Diaphragmatic eventration  (IAGP)
Duodenal stenosis  (IAGP)
Failure to thrive  (IAGP)
Generalized hypotonia  (IAGP)
Horseshoe kidney  (IAGP)
Hydronephrosis  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hypoplastic left atrium  (IAGP)
Hypoplastic spleen  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Intrauterine growth retardation  (IAGP)
Low-set ears  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Multilobulated spleen  (IAGP)
Neonatal death  (IAGP)
Patent ductus arteriosus  (IAGP)
Pelvic kidney  (IAGP)
Profound global developmental delay  (IAGP)
Pulmonary artery atresia  (IAGP)
Pulmonary hypoplasia  (IAGP)
Pulmonic stenosis  (IAGP)
Renal hypoplasia  (IAGP)
Renal malrotation  (IAGP)
Respiratory insufficiency  (IAGP)
Right aortic arch with mirror image branching  (IAGP)
Schizophrenia  (IAGP)
Second trimester onset  (IAGP)
Severe short stature  (IAGP)
Short stature  (IAGP)
Single ventricle  (IAGP)
Tetralogy of Fallot  (IAGP)
Truncus arteriosus  (IAGP)
Ventricular septal defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome. Berner D, etal., Hum Mol Genet. 2019 Aug 1;28(15):2531-2548. doi: 10.1093/hmg/ddz075.
2. Signaling by vitamin A and retinol-binding protein in regulation of insulin responses and lipid homeostasis. Berry DC and Noy N, Biochim Biophys Acta. 2012 Jan;1821(1):168-76. Epub 2011 Jul 12.
3. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. Casey J, etal., Hum Mutat. 2011 Dec;32(12):1417-26. doi: 10.1002/humu.21590. Epub 2011 Sep 29.
4. Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. Chassaing N, etal., Hum Mutat. 2009 May;30(5):E673-81. doi: 10.1002/humu.21023.
5. Chrysin Ameliorates Malfunction of Retinoid Visual Cycle through Blocking Activation of AGE-RAGE-ER Stress in Glucose-Stimulated Retinal Pigment Epithelial Cells and Diabetic Eyes. Kang MK, etal., Nutrients. 2018 Aug 8;10(8). pii: nu10081046. doi: 10.3390/nu10081046.
6. Impaired Rhodopsin Generation in the Rat Model of Diabetic Retinopathy. Malechka VV, etal., Am J Pathol. 2017 Oct;187(10):2222-2231. doi: 10.1016/j.ajpath.2017.06.007. Epub 2017 Jul 19.
7. Physiological insights into all-trans-retinoic acid biosynthesis. Napoli JL Biochim Biophys Acta. 2012 Jan;1821(1):152-67. Epub 2011 May 19.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Pasutto F, etal., Am J Hum Genet. 2007 Mar;80(3):550-60. doi: 10.1086/512203. Epub 2007 Jan 29.
10. Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome. Pasutto F, etal., Am J Med Genet A. 2018 Jan;176(1):134-138. doi: 10.1002/ajmg.a.38529. Epub 2017 Nov 23.
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Overexpression of the retinoic acid-responsive gene Stra6 in human cancers and its synergistic induction by Wnt-1 and retinoic acid. Szeto W, etal., Cancer Res. 2001 May 15;61(10):4197-205.
15. Acidic retinoids synergize with vitamin A to enhance retinol uptake and STRA6, LRAT, and CYP26B1 expression in neonatal lung. Wu L and Ross AC, J Lipid Res. 2010 Feb;51(2):378-87. Epub 2009 Aug 20.
Additional References at PubMed
PMID:9203140   PMID:11256614   PMID:12477932   PMID:12975309   PMID:14702039   PMID:16344560   PMID:16712791   PMID:17255476   PMID:17503335   PMID:18316031   PMID:18387951   PMID:19112531  
PMID:19213032   PMID:19500772   PMID:20301533   PMID:20301552   PMID:20379614   PMID:20625434   PMID:21873635   PMID:22283518   PMID:22665496   PMID:22686418   PMID:22826435   PMID:23449393  
PMID:23464991   PMID:24223695   PMID:24284421   PMID:25237067   PMID:25921289   PMID:26373900   PMID:27446956   PMID:27563101   PMID:28689994   PMID:29067460   PMID:30204971   PMID:30325183  
PMID:30882700   PMID:31597015   PMID:31694721   PMID:32296183   PMID:32344865   PMID:32694731   PMID:32859629   PMID:33845483   PMID:33961781   PMID:36635482   PMID:36758416   PMID:36843593  
PMID:38117590  


Genomics

Comparative Map Data
STRA6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381574,179,466 - 74,212,259 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1574,179,466 - 74,212,267 (-)Ensemblhg38GRCh38
GRCh371574,471,807 - 74,502,046 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,258,860 - 72,282,245 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341572,258,862 - 72,282,245NCBI
Celera1551,418,988 - 51,448,552 (-)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1551,265,478 - 51,295,736 (-)NCBIHuRef
CHM1_11574,590,002 - 74,620,238 (-)NCBICHM1_1
T2T-CHM13v2.01572,045,386 - 72,078,184 (-)NCBIT2T-CHM13v2.0
Stra6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39957,971,076 - 58,061,287 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl957,971,071 - 58,061,279 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38958,063,793 - 58,154,004 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl958,063,788 - 58,153,996 (+)Ensemblmm10GRCm38
MGSCv37957,976,895 - 58,001,804 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36957,927,486 - 57,952,090 (+)NCBIMGSCv36mm8
Celera955,363,368 - 55,388,212 (+)NCBICelera
Cytogenetic Map9BNCBI
cM Map931.63NCBI
Stra6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8867,444,757 - 67,464,719 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl867,444,742 - 67,464,720 (+)EnsemblGRCr8
mRatBN7.2858,548,899 - 58,568,861 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl858,549,736 - 58,568,860 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx864,079,448 - 64,099,415 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0862,357,008 - 62,376,974 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0860,221,574 - 60,241,541 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0862,925,364 - 62,944,438 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl862,925,357 - 62,944,437 (+)Ensemblrn6Rnor6.0
Rnor_5.0862,701,454 - 62,720,528 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4861,920,772 - 61,939,791 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera858,013,586 - 58,032,719 (+)NCBICelera
RGSC_v3.1861,939,822 - 61,958,845 (+)NCBI
Cytogenetic Map8q24NCBI
Stra6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554503,580,662 - 3,602,600 (+)Ensembl
ChiLan1.0NW_0049554503,579,081 - 3,602,538 (+)NCBIChiLan1.0ChiLan1.0
STRA6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21663,403,177 - 63,433,441 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11567,566,763 - 67,597,027 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01553,117,891 - 53,150,790 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11572,740,868 - 72,773,802 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1572,741,482 - 72,770,876 (-)EnsemblpanPan2panpan1.1
STRA6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13037,331,834 - 37,359,449 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3037,331,832 - 37,353,529 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha3037,267,455 - 37,295,072 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.03037,538,888 - 37,566,524 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3037,538,924 - 37,560,014 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13037,491,016 - 37,518,679 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03037,516,933 - 37,544,523 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03037,772,499 - 37,800,122 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Stra6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640115,376,111 - 115,490,544 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647133,224,859 - 33,245,030 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493647133,224,174 - 33,245,076 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STRA6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl759,318,011 - 59,347,266 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1759,317,930 - 59,347,274 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2763,936,184 - 63,965,508 (+)NCBISscrofa10.2Sscrofa10.2susScr3
STRA6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1269,275,317 - 9,311,302 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl269,278,303 - 9,311,475 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_023666048132,311,962 - 132,346,794 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Stra6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624781389,481 - 413,728 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624781304,890 - 413,655 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in STRA6
283 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022369.4(STRA6):c.597+6C>T single nucleotide variant Matthew-Wood syndrome [RCV000548630]|STRA6-related disorder [RCV004541683] Chr15:74195296 [GRCh38]
Chr15:74487637 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1391T>G (p.Leu464Arg) single nucleotide variant Matthew-Wood syndrome [RCV000546496]|not provided [RCV001538701] Chr15:74182370 [GRCh38]
Chr15:74474711 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.910_911delinsAA (p.Gly304Lys) indel Matthew-Wood syndrome [RCV000032958]|Microphthalmia, isolated, with coloboma 8 [RCV000032957]|not provided [RCV000724612] Chr15:74190856..74190857 [GRCh38]
Chr15:74483197..74483198 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.35_36dup (p.Gly13fs) duplication Matthew-Wood syndrome [RCV000001200] Chr15:74202231..74202232 [GRCh38]
Chr15:74494572..74494573 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.147del (p.Gly50fs) deletion Matthew-Wood syndrome [RCV000001193] Chr15:74197785 [GRCh38]
Chr15:74490126 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.50_52delinsCC (p.Asp17fs) indel Matthew-Wood syndrome [RCV000001198] Chr15:74202216..74202218 [GRCh38]
Chr15:74494557..74494559 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.527dup (p.Ser177fs) duplication Matthew-Wood syndrome [RCV000001199]|not provided [RCV001008543] Chr15:74195371..74195372 [GRCh38]
Chr15:74487712..74487713 [GRCh37]
Chr15:15q24.1		 pathogenic|likely pathogenic
NM_022369.4(STRA6):c.598-199A>G single nucleotide variant not provided [RCV001571916] Chr15:74194121 [GRCh38]
Chr15:74486462 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1917G>A (p.Trp639Ter) single nucleotide variant not provided [RCV000722491] Chr15:74180167 [GRCh38]
Chr15:74472508 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.344_345del (p.Cys115fs) microsatellite not provided [RCV000520654] Chr15:74196069..74196070 [GRCh38]
Chr15:74488410..74488411 [GRCh37]
Chr15:15q24.1		 likely pathogenic
NM_022369.4(STRA6):c.878C>T (p.Pro293Leu) single nucleotide variant Matthew-Wood syndrome [RCV000001192]|not provided [RCV005234776] Chr15:74190889 [GRCh38]
Chr15:74483230 [GRCh37]
Chr15:15q24.1		 pathogenic|likely pathogenic
NM_022369.4(STRA6):c.1963C>T (p.Arg655Cys) single nucleotide variant Matthew-Wood syndrome [RCV000001194]|not provided [RCV000995400] Chr15:74180121 [GRCh38]
Chr15:74472462 [GRCh37]
Chr15:15q24.1		 pathogenic|uncertain significance
NM_022369.4(STRA6):c.1931C>T (p.Thr644Met) single nucleotide variant Matthew-Wood syndrome [RCV000001195] Chr15:74180153 [GRCh38]
Chr15:74472494 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.269C>T (p.Pro90Leu) single nucleotide variant Matthew-Wood syndrome [RCV000001196] Chr15:74196145 [GRCh38]
Chr15:74488486 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.961A>C (p.Thr321Pro) single nucleotide variant Matthew-Wood syndrome [RCV000001197]|STRA6-related disorder [RCV004532271] Chr15:74189244 [GRCh38]
Chr15:74481585 [GRCh37]
Chr15:15q24.1		 pathogenic|uncertain significance
NM_022369.4(STRA6):c.69G>A (p.Trp23Ter) single nucleotide variant Matthew-Wood syndrome [RCV000001201] Chr15:74202199 [GRCh38]
Chr15:74494540 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.1521-1G>A single nucleotide variant Matthew-Wood syndrome [RCV000074414] Chr15:74181459 [GRCh38]
Chr15:74473800 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.1678G>C (p.Asp560His) single nucleotide variant Matthew-Wood syndrome [RCV000033165] Chr15:74181301 [GRCh38]
Chr15:74473642 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.1964G>A (p.Arg655His) single nucleotide variant Matthew-Wood syndrome [RCV000033166]|STRA6-related disorder [RCV000509414]|not provided [RCV000493344] Chr15:74180120 [GRCh38]
Chr15:74472461 [GRCh37]
Chr15:15q24.1		 pathogenic|likely pathogenic|not provided
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1 copy number loss See cases [RCV000051128] Chr15:72671629..75662276 [GRCh38]
Chr15:72963970..75954617 [GRCh37]
Chr15:70751023..73741672 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3 copy number gain See cases [RCV000051821] Chr15:72629028..75242989 [GRCh38]
Chr15:72921369..75535330 [GRCh37]
Chr15:70708423..73322383 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] Chr15:70788624..76057736 [GRCh38]
Chr15:71080963..76350077 [GRCh37]
Chr15:68868017..74137132 [NCBI36]
Chr15:15q23-24.2		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:74106871-75727625)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|See cases [RCV000053220] Chr15:74106871..75727625 [GRCh38]
Chr15:74399212..76019966 [GRCh37]
Chr15:72186265..73807021 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
NM_001142617.1(STRA6):c.1419-1G>A single nucleotide variant Malignant melanoma [RCV000070884] Chr15:74182263 [GRCh38]
Chr15:74474604 [GRCh37]
Chr15:72261657 [NCBI36]
Chr15:15q24.1		 not provided
NM_001142617.1(STRA6):c.114G>A (p.Gly38=) single nucleotide variant Malignant melanoma [RCV000070885] Chr15:74197818 [GRCh38]
Chr15:74490159 [GRCh37]
Chr15:72277212 [NCBI36]
Chr15:15q24.1		 not provided
NM_005545.3(ISLR):c.564C>T (p.Ile188=) single nucleotide variant Malignant melanoma [RCV000062922] Chr15:74175422 [GRCh38]
Chr15:74467763 [GRCh37]
Chr15:72254816 [NCBI36]
Chr15:15q24.1		 not provided
NM_005545.3(ISLR):c.917C>T (p.Ala306Val) single nucleotide variant Malignant melanoma [RCV000070883] Chr15:74175775 [GRCh38]
Chr15:74468116 [GRCh37]
Chr15:72255169 [NCBI36]
Chr15:15q24.1		 not provided
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln) single nucleotide variant Matthew-Wood syndrome [RCV000989358]|not provided [RCV000639564]|not specified [RCV000174795] Chr15:74183933 [GRCh38]
Chr15:74476274 [GRCh37]
Chr15:15q24.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022369.4(STRA6):c.267-1G>T single nucleotide variant Matthew-Wood syndrome [RCV002760512] Chr15:74196148 [GRCh38]
Chr15:74488489 [GRCh37]
Chr15:15q24.1		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1 copy number loss See cases [RCV000137347] Chr15:72671629..75199803 [GRCh38]
Chr15:72963970..75492144 [GRCh37]
Chr15:70751023..73279197 [NCBI36]
Chr15:15q24.1-24.2		 likely pathogenic|likely benign
NM_022369.4(STRA6):c.1605C>T (p.Leu535=) single nucleotide variant not provided [RCV000175230] Chr15:74181374 [GRCh38]
Chr15:74473715 [GRCh37]
Chr15:15q24.1		 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 15q24.1-24.2(chr15:72685231-75727625)x1 copy number loss See cases [RCV000141573] Chr15:72685231..75727625 [GRCh38]
Chr15:72977572..76019966 [GRCh37]
Chr15:70764625..73807021 [NCBI36]
Chr15:15q24.1-24.2		 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
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 15q24.1-24.2(chr15:72671629-75242989)x1 copy number loss See cases [RCV000142748] Chr15:72671629..75242989 [GRCh38]
Chr15:72963970..75535330 [GRCh37]
Chr15:70751023..73322383 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
NM_022369.4(STRA6):c.217C>A (p.Arg73Ser) single nucleotide variant not provided [RCV000178337] Chr15:74197387 [GRCh38]
Chr15:74489728 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1313A>G (p.Gln438Arg) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV000207353] Chr15:74182448 [GRCh38]
Chr15:74474789 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.1735C>G (p.Pro579Ala) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV000207384] Chr15:74180887 [GRCh38]
Chr15:74473228 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.1913G>C (p.Arg638Pro) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV000207387] Chr15:74180171 [GRCh38]
Chr15:74472512 [GRCh37]
Chr15:15q24.1		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3 copy number gain See cases [RCV000240066] Chr15:72998989..76069787 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1 copy number loss See cases [RCV000240271] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2		 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
NM_022369.4(STRA6):c.1167-10C>G single nucleotide variant Matthew-Wood syndrome [RCV000329298]|not provided [RCV001610730]|not specified [RCV000248979] Chr15:74183999 [GRCh38]
Chr15:74476340 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1581G>A (p.Met527Ile) single nucleotide variant Matthew-Wood syndrome [RCV000401354]|not provided [RCV001610731]|not specified [RCV000253939] Chr15:74181398 [GRCh38]
Chr15:74473739 [GRCh37]
Chr15:15q24.1		 benign
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_022369.4(STRA6):c.406+5C>T single nucleotide variant Matthew-Wood syndrome [RCV000878796]|STRA6-related disorder [RCV004537788]|not provided [RCV002461071] Chr15:74196003 [GRCh38]
Chr15:74488344 [GRCh37]
Chr15:15q24.1		 likely benign|uncertain significance
NM_022369.4(STRA6):c.*569T>C single nucleotide variant Matthew-Wood syndrome [RCV000301642]|not provided [RCV004714992] Chr15:74179511 [GRCh38]
Chr15:74471852 [GRCh37]
Chr15:15q24.1		 benign|likely benign
NM_022369.4(STRA6):c.1903G>A (p.Gly635Ser) single nucleotide variant Inborn genetic diseases [RCV002522806]|Matthew-Wood syndrome [RCV000550092]|not provided [RCV002285312] Chr15:74180181 [GRCh38]
Chr15:74472522 [GRCh37]
Chr15:15q24.1		 benign|likely benign|uncertain significance
NM_022369.4(STRA6):c.*75C>A single nucleotide variant Matthew-Wood syndrome [RCV000325620]|not provided [RCV001557140] Chr15:74180005 [GRCh38]
Chr15:74472346 [GRCh37]
Chr15:15q24.1		 benign|likely benign
NM_022369.4(STRA6):c.1992T>C (p.Gly664=) single nucleotide variant Matthew-Wood syndrome [RCV000290516] Chr15:74180092 [GRCh38]
Chr15:74472433 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.*381C>T single nucleotide variant Matthew-Wood syndrome [RCV000353409] Chr15:74179699 [GRCh38]
Chr15:74472040 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.*189G>T single nucleotide variant Matthew-Wood syndrome [RCV000273801] Chr15:74179891 [GRCh38]
Chr15:74472232 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.*178C>T single nucleotide variant Matthew-Wood syndrome [RCV000333582] Chr15:74179902 [GRCh38]
Chr15:74472243 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.597+9T>G single nucleotide variant Matthew-Wood syndrome [RCV000878589] Chr15:74195293 [GRCh38]
Chr15:74487634 [GRCh37]
Chr15:15q24.1		 benign|likely benign
NM_022369.4(STRA6):c.1416G>A (p.Ser472=) single nucleotide variant Matthew-Wood syndrome [RCV000556770]|not provided [RCV004705328] Chr15:74182345 [GRCh38]
Chr15:74474686 [GRCh37]
Chr15:15q24.1		 benign|likely benign
NM_022369.4(STRA6):c.*399G>A single nucleotide variant Matthew-Wood syndrome [RCV000298495] Chr15:74179681 [GRCh38]
Chr15:74472022 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.720+15C>T single nucleotide variant Matthew-Wood syndrome [RCV000278682] Chr15:74193785 [GRCh38]
Chr15:74486126 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1771G>A (p.Ala591Thr) single nucleotide variant Matthew-Wood syndrome [RCV001084805]|not provided [RCV000515101] Chr15:74180851 [GRCh38]
Chr15:74473192 [GRCh37]
Chr15:15q24.1		 benign|likely benign|uncertain significance
NM_022369.4(STRA6):c.*324C>T single nucleotide variant Matthew-Wood syndrome [RCV000263049] Chr15:74179756 [GRCh38]
Chr15:74472097 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.993G>A (p.Thr331=) single nucleotide variant Matthew-Wood syndrome [RCV000877871]|not provided [RCV001815310] Chr15:74189212 [GRCh38]
Chr15:74481553 [GRCh37]
Chr15:15q24.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022369.4(STRA6):c.1840+12C>T single nucleotide variant Matthew-Wood syndrome [RCV000342683]|not provided [RCV003389800] Chr15:74180770 [GRCh38]
Chr15:74473111 [GRCh37]
Chr15:15q24.1		 benign|likely benign|uncertain significance
NM_022369.4(STRA6):c.865+7G>A single nucleotide variant Matthew-Wood syndrome [RCV000323575] Chr15:74191160 [GRCh38]
Chr15:74483501 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1418+10del deletion Matthew-Wood syndrome [RCV000878456]|Syndromic Microphthalmia, Recessive [RCV000368037] Chr15:74182333 [GRCh38]
Chr15:74474674 [GRCh37]
Chr15:15q24.1		 benign|uncertain significance
NM_022369.3(STRA6):c.-113A>G single nucleotide variant Syndromic Microphthalmia, Recessive [RCV000272414] Chr15:74202810 [GRCh38]
Chr15:74495151 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.388G>A (p.Ala130Thr) single nucleotide variant Matthew-Wood syndrome [RCV000348992] Chr15:74196026 [GRCh38]
Chr15:74488367 [GRCh37]
Chr15:15q24.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022369.4(STRA6):c.1840+4C>T single nucleotide variant not provided [RCV000344017] Chr15:74180778 [GRCh38]
Chr15:74473119 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1349C>A (p.Ala450Asp) single nucleotide variant Matthew-Wood syndrome [RCV000307273] Chr15:74182412 [GRCh38]
Chr15:74474753 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.597+7G>A single nucleotide variant Matthew-Wood syndrome [RCV000374447] Chr15:74195295 [GRCh38]
Chr15:74487636 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.91G>A (p.Gly31Ser) single nucleotide variant Matthew-Wood syndrome [RCV000639565]|STRA6-related disorder [RCV004537789]|not provided [RCV004714993] Chr15:74202177 [GRCh38]
Chr15:74494518 [GRCh37]
Chr15:15q24.1		 benign|likely benign|uncertain significance
NM_022369.4(STRA6):c.386T>C (p.Leu129Pro) single nucleotide variant Matthew-Wood syndrome [RCV000399101] Chr15:74196028 [GRCh38]
Chr15:74488369 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.4T>C (p.Ser2Pro) single nucleotide variant Matthew-Wood syndrome [RCV000307673] Chr15:74202264 [GRCh38]
Chr15:74494605 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.331C>T (p.Leu111=) single nucleotide variant Matthew-Wood syndrome [RCV000352583]|not provided [RCV001675805] Chr15:74196083 [GRCh38]
Chr15:74488424 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1957G>A (p.Val653Ile) single nucleotide variant Matthew-Wood syndrome [RCV000687639]|not provided [RCV004693244] Chr15:74180127 [GRCh38]
Chr15:74472468 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.*426G>A single nucleotide variant Syndromic Microphthalmia, Recessive [RCV000406860]|not provided [RCV004693243] Chr15:74179654 [GRCh38]
Chr15:74471995 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.366C>T (p.Asp122=) single nucleotide variant Matthew-Wood syndrome [RCV000314148]|not provided [RCV003884467] Chr15:74196048 [GRCh38]
Chr15:74488389 [GRCh37]
Chr15:15q24.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022369.4(STRA6):c.357C>T (p.Pro119=) single nucleotide variant Matthew-Wood syndrome [RCV001087374]|not provided [RCV000325843] Chr15:74196057 [GRCh38]
Chr15:74488398 [GRCh37]
Chr15:15q24.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022369.4(STRA6):c.1685-5C>G single nucleotide variant Matthew-Wood syndrome [RCV000878312]|STRA6-related disorder [RCV004544566]|not provided [RCV001357472] Chr15:74180942 [GRCh38]
Chr15:74473283 [GRCh37]
Chr15:15q24.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022369.4(STRA6):c.*489T>C single nucleotide variant Matthew-Wood syndrome [RCV000361025]|not provided [RCV004715920] Chr15:74179591 [GRCh38]
Chr15:74471932 [GRCh37]
Chr15:15q24.1		 benign|likely benign
NM_022369.4(STRA6):c.*127T>C single nucleotide variant Matthew-Wood syndrome [RCV000388260]|not provided [RCV001642989] Chr15:74179953 [GRCh38]
Chr15:74472294 [GRCh37]
Chr15:15q24.1		 benign|likely benign
NM_022369.4(STRA6):c.*222G>A single nucleotide variant Matthew-Wood syndrome [RCV000318472]|not provided [RCV001690057] Chr15:74179858 [GRCh38]
Chr15:74179858..74179859 [GRCh38]
Chr15:74472199 [GRCh37]
Chr15:74472199..74472200 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1970C>T (p.Thr657Met) single nucleotide variant Matthew-Wood syndrome [RCV000340862] Chr15:74180114 [GRCh38]
Chr15:74472455 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.3(STRA6):c.-100G>A single nucleotide variant Syndromic Microphthalmia, Recessive [RCV000364576] Chr15:74202797 [GRCh38]
Chr15:74495138 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1260G>C (p.Trp420Cys) single nucleotide variant Matthew-Wood syndrome [RCV000364312] Chr15:74183896 [GRCh38]
Chr15:74476237 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1836C>T (p.Asp612=) single nucleotide variant Matthew-Wood syndrome [RCV000878352]|not provided [RCV001636898] Chr15:74180786 [GRCh38]
Chr15:74473127 [GRCh37]
Chr15:15q24.1		 benign|uncertain significance
NM_022369.4(STRA6):c.113+3_113+4del deletion Matthew-Wood syndrome [RCV000515456]|not provided [RCV005255593] Chr15:74202151..74202152 [GRCh38]
Chr15:74494492..74494493 [GRCh37]
Chr15:15q24.1		 pathogenic|likely pathogenic
NM_022369.4(STRA6):c.1518C>A (p.Asn506Lys) single nucleotide variant not provided [RCV000723044] Chr15:74182163 [GRCh38]
Chr15:74474504 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1594C>G (p.Arg532Gly) single nucleotide variant not provided [RCV000723148] Chr15:74181385 [GRCh38]
Chr15:74473726 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.853A>T (p.Thr285Ser) single nucleotide variant Matthew-Wood syndrome [RCV000380564] Chr15:74191179 [GRCh38]
Chr15:74483520 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.946G>A (p.Val316Met) single nucleotide variant Matthew-Wood syndrome [RCV000527023] Chr15:74189259 [GRCh38]
Chr15:74481600 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.*32G>T single nucleotide variant Matthew-Wood syndrome [RCV000384808] Chr15:74180048 [GRCh38]
Chr15:74472389 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.*209G>C single nucleotide variant Syndromic Microphthalmia, Recessive [RCV000368439] Chr15:74179871 [GRCh38]
Chr15:74472212 [GRCh37]
Chr15:15q24.1		 uncertain significance
NC_000015.10:g.74179452C>T single nucleotide variant Syndromic Microphthalmia, Recessive [RCV000269792]|not provided [RCV004703905] Chr15:74179452 [GRCh38]
Chr15:74471793 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1566G>T (p.Val522=) single nucleotide variant Matthew-Wood syndrome [RCV000937196] Chr15:74181413 [GRCh38]
Chr15:74473754 [GRCh37]
Chr15:15q24.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022369.4(STRA6):c.*89T>C single nucleotide variant Matthew-Wood syndrome [RCV000289182] Chr15:74179991 [GRCh38]
Chr15:74472332 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.3(STRA6):c.-139C>A single nucleotide variant Syndromic Microphthalmia, Recessive [RCV000301595] Chr15:74202836 [GRCh38]
Chr15:74495177 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1079G>T (p.Trp360Leu) single nucleotide variant Inborn genetic diseases [RCV004965404]|Matthew-Wood syndrome [RCV000377151] Chr15:74189126 [GRCh38]
Chr15:74481467 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1027G>T (p.Val343Leu) single nucleotide variant Matthew-Wood syndrome [RCV002532377]|not provided [RCV000592599] Chr15:74189178 [GRCh38]
Chr15:74481519 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.-15-3A>G single nucleotide variant not provided [RCV000592894] Chr15:74202285 [GRCh38]
Chr15:74494626 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.630G>A (p.Leu210=) single nucleotide variant not provided [RCV000593668] Chr15:74193890 [GRCh38]
Chr15:74486231 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.653T>C (p.Phe218Ser) single nucleotide variant Matthew-Wood syndrome [RCV001342543]|not provided [RCV000523907] Chr15:74193867 [GRCh38]
Chr15:74486208 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.386_387delinsCA (p.Leu129Pro) indel Matthew-Wood syndrome [RCV002499333]|not provided [RCV000722346] Chr15:74196027..74196028 [GRCh38]
Chr15:74488368..74488369 [GRCh37]
Chr15:15q24.1		 uncertain significance
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
NM_022369.4(STRA6):c.1605C>A (p.Leu535=) single nucleotide variant Matthew-Wood syndrome [RCV000951922]|STRA6-related disorder [RCV004540065]|not provided [RCV004705779]|not specified [RCV000732345] Chr15:74181374 [GRCh38]
Chr15:74473715 [GRCh37]
Chr15:15q24.1		 benign|likely benign
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 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_022369.4(STRA6):c.582_583insTTGGCAGAGGGCAGAGTGT (p.Pro195fs) microsatellite not provided [RCV000484337] Chr15:74195316..74195317 [GRCh38]
Chr15:74487657..74487658 [GRCh37]
Chr15:15q24.1		 pathogenic
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 15q24.1-24.2(chr15:72958539-76063285)x1 copy number loss not provided [RCV000509167] Chr15:72958539..76063285 [GRCh37]
Chr15:15q24.1-24.2		 not provided
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss See cases [RCV000510609] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2		 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_022369.4(STRA6):c.1957G>T (p.Val653Phe) single nucleotide variant Inborn genetic diseases [RCV003294928] Chr15:74180127 [GRCh38]
Chr15:74472468 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1935G>A (p.Leu645=) single nucleotide variant not provided [RCV000596412] Chr15:74180149 [GRCh38]
Chr15:74472490 [GRCh37]
Chr15:15q24.1		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
NM_022369.4(STRA6):c.367G>C (p.Ala123Pro) single nucleotide variant Matthew-Wood syndrome [RCV000533739]|not provided [RCV001536885] Chr15:74196047 [GRCh38]
Chr15:74488388 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.2001C>T (p.Pro667=) single nucleotide variant Matthew-Wood syndrome [RCV000559820] Chr15:74180083 [GRCh38]
Chr15:74472424 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.173C>T (p.Ser58Leu) single nucleotide variant Matthew-Wood syndrome [RCV000535196]|not provided [RCV001712500] Chr15:74197759 [GRCh38]
Chr15:74490100 [GRCh37]
Chr15:15q24.1		 benign
Single allele deletion not provided [RCV000677994] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1(chr15:74408834-74622533)x3 copy number gain not provided [RCV000683706] Chr15:74408834..74622533 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q24.1(chr15:74315568-74654641)x3 copy number gain not provided [RCV000683705] Chr15:74315568..74654641 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1 copy number loss not provided [RCV000683704] Chr15:72943184..76072324 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_022369.4(STRA6):c.1676dup (p.Asp560fs) duplication Matthew-Wood syndrome [RCV000694327] Chr15:74181302..74181303 [GRCh38]
Chr15:74473643..74473644 [GRCh37]
Chr15:15q24.1		 pathogenic
Single allele duplication Schizophrenia [RCV000754166] Chr15:72640623..75277317 [GRCh38]
Chr15:15q24.1-24.2		 likely pathogenic
GRCh37/hg19 15q24.1(chr15:74431715-74494621)x3 copy number gain not provided [RCV000738821] Chr15:74431715..74494621 [GRCh37]
Chr15:15q24.1		 benign
Single allele duplication Schizophrenia [RCV000754167] Chr15:74071509..77878298 [GRCh38]
Chr15:15q24.1-24.3		 likely 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
GRCh37/hg19 15q24.1-24.2(chr15:72965159-75513545)x1 copy number loss not provided [RCV000751338] Chr15:72965159..75513545 [GRCh37]
Chr15:15q24.1-24.2		 uncertain significance
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
NM_001142617.2(STRA6):c.-16+1161G>A single nucleotide variant not provided [RCV001693071] Chr15:74207639 [GRCh38]
Chr15:74499980 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1300+27A>G single nucleotide variant not provided [RCV001585318] Chr15:74183829 [GRCh38]
Chr15:74476170 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.963T>C (p.Thr321=) single nucleotide variant Matthew-Wood syndrome [RCV005092643] Chr15:74189242 [GRCh38]
Chr15:74481583 [GRCh37]
Chr15:15q24.1		 likely benign
NM_001142617.2(STRA6):c.-16+411G>A single nucleotide variant not provided [RCV001709908] Chr15:74208389 [GRCh38]
Chr15:74500730 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.-15-29C>T single nucleotide variant not provided [RCV001546030] Chr15:74202311 [GRCh38]
Chr15:74494652 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1341G>A (p.Thr447=) single nucleotide variant Matthew-Wood syndrome [RCV001116206] Chr15:74182420 [GRCh38]
Chr15:74474761 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.*368G>C single nucleotide variant Matthew-Wood syndrome [RCV001116088] Chr15:74179712 [GRCh38]
Chr15:74472053 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.105G>A (p.Gln35=) single nucleotide variant Matthew-Wood syndrome [RCV000945920] Chr15:74202163 [GRCh38]
Chr15:74494504 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.315T>C (p.Ala105=) single nucleotide variant not provided [RCV000946020] Chr15:74196099 [GRCh38]
Chr15:74488440 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.915G>A (p.Thr305=) single nucleotide variant not provided [RCV000946282] Chr15:74190852 [GRCh38]
Chr15:74483193 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.828C>T (p.Arg276=) single nucleotide variant not provided [RCV000950918] Chr15:74191204 [GRCh38]
Chr15:74483545 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1053G>A (p.Val351=) single nucleotide variant Matthew-Wood syndrome [RCV000981477] Chr15:74189152 [GRCh38]
Chr15:74481493 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1221T>C (p.His407=) single nucleotide variant not provided [RCV000920559] Chr15:74183935 [GRCh38]
Chr15:74476276 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.239G>A (p.Cys80Tyr) single nucleotide variant Inborn genetic diseases [RCV002549617]|Matthew-Wood syndrome [RCV002549616]|STRA6-related disorder [RCV004544983] Chr15:74197365 [GRCh38]
Chr15:74489706 [GRCh37]
Chr15:15q24.1		 likely benign|uncertain significance
NM_022369.4(STRA6):c.973G>T (p.Val325Leu) single nucleotide variant Inborn genetic diseases [RCV002549618]|Matthew-Wood syndrome [RCV002549619]|STRA6-related disorder [RCV004544984] Chr15:74189232 [GRCh38]
Chr15:74481573 [GRCh37]
Chr15:15q24.1		 likely benign|uncertain significance
NM_022369.4(STRA6):c.1668C>T (p.Ala556=) single nucleotide variant Matthew-Wood syndrome [RCV000964607] Chr15:74181311 [GRCh38]
Chr15:74473652 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1692C>T (p.Tyr564=) single nucleotide variant Matthew-Wood syndrome [RCV002548390] Chr15:74180930 [GRCh38]
Chr15:74473271 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.598-256CTC[2] microsatellite not provided [RCV000833310] Chr15:74194170..74194172 [GRCh38]
Chr15:74486511..74486513 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1166+82C>T single nucleotide variant not provided [RCV000834282] Chr15:74184898 [GRCh38]
Chr15:74184898..74184899 [GRCh38]
Chr15:74477239 [GRCh37]
Chr15:74477239..74477240 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1166+105C>T single nucleotide variant not provided [RCV000834283] Chr15:74184875 [GRCh38]
Chr15:74477216 [GRCh37]
Chr15:15q24.1		 benign
GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1 copy number loss not provided [RCV000848080] Chr15:72926922..75544524 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_022369.3(STRA6):c.-5200G>A single nucleotide variant not provided [RCV000834445] Chr15:74207897 [GRCh38]
Chr15:74500238 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.3(STRA6):c.-5067C>T single nucleotide variant not provided [RCV000834446] Chr15:74207764 [GRCh38]
Chr15:74500105 [GRCh37]
Chr15:15q24.1		 benign
GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3 copy number gain not provided [RCV000848212] Chr15:72963271..76064900 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1 copy number loss not provided [RCV000849229] Chr15:72943184..75544524 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_022369.4(STRA6):c.1520+14T>C single nucleotide variant Matthew-Wood syndrome [RCV001116203] Chr15:74182147 [GRCh38]
Chr15:74474488 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1519C>T (p.Arg507Trp) single nucleotide variant Matthew-Wood syndrome [RCV001116204] Chr15:74182162 [GRCh38]
Chr15:74474503 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.*190C>T single nucleotide variant Matthew-Wood syndrome [RCV001116089] Chr15:74179890 [GRCh38]
Chr15:74472231 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.-28G>C single nucleotide variant Matthew-Wood syndrome [RCV001116312] Chr15:74202725 [GRCh38]
Chr15:74495066 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.*10A>C single nucleotide variant Matthew-Wood syndrome [RCV001119125]|STRA6-related disorder [RCV004545071]|not provided [RCV004693735] Chr15:74180070 [GRCh38]
Chr15:74472411 [GRCh37]
Chr15:15q24.1		 likely benign|uncertain significance
NM_022369.4(STRA6):c.1867T>G (p.Ser623Ala) single nucleotide variant Matthew-Wood syndrome [RCV001119126] Chr15:74180217 [GRCh38]
Chr15:74472558 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.608A>G (p.Tyr203Cys) single nucleotide variant Matthew-Wood syndrome [RCV001119230] Chr15:74193912 [GRCh38]
Chr15:74486253 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.108A>G (p.Pro36=) single nucleotide variant not provided [RCV000918137] Chr15:74202160 [GRCh38]
Chr15:74494501 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1565T>G (p.Val522Gly) single nucleotide variant Matthew-Wood syndrome [RCV001116202] Chr15:74181414 [GRCh38]
Chr15:74473755 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss not provided [RCV001006709] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_022369.4(STRA6):c.431-2A>G single nucleotide variant Matthew-Wood syndrome [RCV001229031] Chr15:74195470 [GRCh38]
Chr15:74487811 [GRCh37]
Chr15:15q24.1		 likely pathogenic
NM_022369.4(STRA6):c.1418+1_1418+3del microsatellite Matthew-Wood syndrome [RCV001222856] Chr15:74182340..74182342 [GRCh38]
Chr15:74474681..74474683 [GRCh37]
Chr15:15q24.1		 likely pathogenic
NM_022369.4(STRA6):c.1670C>T (p.Ala557Val) single nucleotide variant Matthew-Wood syndrome [RCV001121114] Chr15:74181309 [GRCh38]
Chr15:74473650 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1685-15G>A single nucleotide variant Matthew-Wood syndrome [RCV001121113] Chr15:74180952 [GRCh38]
Chr15:74473293 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1300+10C>T single nucleotide variant Matthew-Wood syndrome [RCV001117646] Chr15:74183846 [GRCh38]
Chr15:74476187 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1377T>C (p.His459=) single nucleotide variant Matthew-Wood syndrome [RCV001116205] Chr15:74182384 [GRCh38]
Chr15:74474725 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.181A>T (p.Ile61Phe) single nucleotide variant Matthew-Wood syndrome [RCV001116309] Chr15:74197423 [GRCh38]
Chr15:74489764 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1661C>T (p.Pro554Leu) single nucleotide variant not provided [RCV003236973] Chr15:74181318 [GRCh38]
Chr15:74473659 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1520+200G>A single nucleotide variant not provided [RCV001559959] Chr15:74181961 [GRCh38]
Chr15:74474302 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.721-42G>A single nucleotide variant not provided [RCV001555926] Chr15:74191533 [GRCh38]
Chr15:74483874 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.720+59C>T single nucleotide variant not provided [RCV001671541] Chr15:74193741 [GRCh38]
Chr15:74486082 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.406+97A>G single nucleotide variant not provided [RCV001709093] Chr15:74195911 [GRCh38]
Chr15:74488252 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1685-113T>A single nucleotide variant not provided [RCV001561787] Chr15:74181050 [GRCh38]
Chr15:74473391 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.865+93A>G single nucleotide variant not provided [RCV001639277] Chr15:74191074 [GRCh38]
Chr15:74483415 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1841-132C>T single nucleotide variant not provided [RCV001643954] Chr15:74180375 [GRCh38]
Chr15:74472716 [GRCh37]
Chr15:15q24.1		 benign
NM_001142617.2(STRA6):c.-16+1061C>G single nucleotide variant not provided [RCV001570309] Chr15:74207739 [GRCh38]
Chr15:74500080 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1685-24T>C single nucleotide variant not provided [RCV001639961] Chr15:74180961 [GRCh38]
Chr15:74473302 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.927+284C>A single nucleotide variant not provided [RCV001570683] Chr15:74190556 [GRCh38]
Chr15:74482897 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1191A>G (p.Arg397=) single nucleotide variant Matthew-Wood syndrome [RCV003495203] Chr15:74183965 [GRCh38]
Chr15:74476306 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.597+7G>T single nucleotide variant not provided [RCV000883420] Chr15:74195295 [GRCh38]
Chr15:74487636 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.407-9A>T single nucleotide variant Matthew-Wood syndrome [RCV000945334] Chr15:74195684 [GRCh38]
Chr15:74488025 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.902C>T (p.Thr301Ile) single nucleotide variant Matthew-Wood syndrome [RCV000952396]|STRA6-related disorder [RCV004543584]|not provided [RCV001528668] Chr15:74190865 [GRCh38]
Chr15:74483206 [GRCh37]
Chr15:15q24.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022369.4(STRA6):c.1242C>T (p.Arg414=) single nucleotide variant Matthew-Wood syndrome [RCV000879705] Chr15:74183914 [GRCh38]
Chr15:74476255 [GRCh37]
Chr15:15q24.1		 likely benign|conflicting interpretations of pathogenicity
NM_022369.4(STRA6):c.1091-5A>G single nucleotide variant not provided [RCV000931254] Chr15:74185060 [GRCh38]
Chr15:74477401 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.36C>T (p.Pro12=) single nucleotide variant not provided [RCV000894845] Chr15:74202232 [GRCh38]
Chr15:74494573 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.591G>A (p.Val197=) single nucleotide variant Matthew-Wood syndrome [RCV000946003]|not provided [RCV003392703] Chr15:74195308 [GRCh38]
Chr15:74487649 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1677C>T (p.Leu559=) single nucleotide variant Matthew-Wood syndrome [RCV003495215] Chr15:74181302 [GRCh38]
Chr15:74473643 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.826C>T (p.Arg276Cys) single nucleotide variant Matthew-Wood syndrome [RCV002066252]|STRA6-related disorder [RCV004543551]|not provided [RCV004705953] Chr15:74191206 [GRCh38]
Chr15:74483547 [GRCh37]
Chr15:15q24.1		 likely benign|conflicting interpretations of pathogenicity
NM_022369.4(STRA6):c.1026C>T (p.Ile342=) single nucleotide variant Matthew-Wood syndrome [RCV000951957]|not provided [RCV001564473] Chr15:74189179 [GRCh38]
Chr15:74481520 [GRCh37]
Chr15:15q24.1		 benign|likely benign
NM_022369.4(STRA6):c.*105G>A single nucleotide variant Matthew-Wood syndrome [RCV001117530] Chr15:74179975 [GRCh38]
Chr15:74472316 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.387C>A (p.Leu129=) single nucleotide variant Matthew-Wood syndrome [RCV001121228]|not provided [RCV000913313] Chr15:74196027 [GRCh38]
Chr15:74488368 [GRCh37]
Chr15:15q24.1		 likely benign|uncertain significance
NM_022369.4(STRA6):c.645C>A (p.Gly215=) single nucleotide variant Matthew-Wood syndrome [RCV005092636]|STRA6-related disorder [RCV004530969] Chr15:74193875 [GRCh38]
Chr15:74486216 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1685-93A>C single nucleotide variant not provided [RCV001562845] Chr15:74181030 [GRCh38]
Chr15:74473371 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1521-284A>G single nucleotide variant not provided [RCV001709913] Chr15:74181742 [GRCh38]
Chr15:74474083 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.113+108G>A single nucleotide variant not provided [RCV001676238] Chr15:74202047 [GRCh38]
Chr15:74494388 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.430+24T>A single nucleotide variant not provided [RCV001540945] Chr15:74195628 [GRCh38]
Chr15:74487969 [GRCh37]
Chr15:15q24.1		 benign
NM_001142617.2(STRA6):c.-16+1185C>G single nucleotide variant not provided [RCV001608551] Chr15:74207615 [GRCh38]
Chr15:74499956 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1840+88G>A single nucleotide variant not provided [RCV001528059] Chr15:74180694 [GRCh38]
Chr15:74473035 [GRCh37]
Chr15:15q24.1		 benign
NM_001142617.2(STRA6):c.-16+794G>C single nucleotide variant not provided [RCV001654687] Chr15:74208006 [GRCh38]
Chr15:74500347 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.406+111A>G single nucleotide variant not provided [RCV001715571] Chr15:74195897 [GRCh38]
Chr15:74488238 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.181-119T>C single nucleotide variant not provided [RCV001637929] Chr15:74197542 [GRCh38]
Chr15:74489883 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.721-114C>T single nucleotide variant not provided [RCV001677233] Chr15:74191605 [GRCh38]
Chr15:74483946 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.-83G>A single nucleotide variant Matthew-Wood syndrome [RCV001117754] Chr15:74202780 [GRCh38]
Chr15:74495121 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.438G>A (p.Trp146Ter) single nucleotide variant Matthew-Wood syndrome [RCV001169873] Chr15:74195461 [GRCh38]
Chr15:74487802 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.1803C>T (p.Ala601=) single nucleotide variant Matthew-Wood syndrome [RCV001121111] Chr15:74180819 [GRCh38]
Chr15:74473160 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1167-300T>G single nucleotide variant not provided [RCV001695950] Chr15:74184289 [GRCh38]
Chr15:74476630 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1840+50T>C single nucleotide variant not provided [RCV001667990] Chr15:74180732 [GRCh38]
Chr15:74473073 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.598-181G>A single nucleotide variant not provided [RCV001708237] Chr15:74194103 [GRCh38]
Chr15:74486444 [GRCh37]
Chr15:15q24.1		 benign
NM_001142617.2(STRA6):c.-15-751T>G single nucleotide variant not provided [RCV001669221] Chr15:74203033 [GRCh38]
Chr15:74495374 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1300+102G>T single nucleotide variant not provided [RCV001616289] Chr15:74183754 [GRCh38]
Chr15:74476095 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.407-129A>G single nucleotide variant not provided [RCV001671876] Chr15:74195804 [GRCh38]
Chr15:74488145 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.266+266G>A single nucleotide variant not provided [RCV001648571] Chr15:74197072 [GRCh38]
Chr15:74489413 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.-16+108C>A single nucleotide variant not provided [RCV001681522] Chr15:74202605 [GRCh38]
Chr15:74494946 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.927+161C>A single nucleotide variant not provided [RCV001690695] Chr15:74190679 [GRCh38]
Chr15:74483020 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.*141G>A single nucleotide variant Matthew-Wood syndrome [RCV001117529] Chr15:74179939 [GRCh38]
Chr15:74472280 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.*582T>C single nucleotide variant Matthew-Wood syndrome [RCV001121004] Chr15:74179498 [GRCh38]
Chr15:74471839 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1871T>C (p.Met624Thr) single nucleotide variant Inborn genetic diseases [RCV004033646]|Matthew-Wood syndrome [RCV001205376] Chr15:74180213 [GRCh38]
Chr15:74472554 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.741T>G (p.Ser247=) single nucleotide variant Matthew-Wood syndrome [RCV001119229] Chr15:74191471 [GRCh38]
Chr15:74483812 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.481del (p.Leu161fs) deletion Matthew-Wood syndrome [RCV001205377] Chr15:74195418 [GRCh38]
Chr15:74487759 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.1693A>G (p.Thr565Ala) single nucleotide variant Matthew-Wood syndrome [RCV001121112]|not provided [RCV004693755] Chr15:74180929 [GRCh38]
Chr15:74473270 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.-15-167G>A single nucleotide variant Matthew-Wood syndrome [RCV001199279] Chr15:74202449 [GRCh38]
Chr15:74494790 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.945G>A (p.Leu315=) single nucleotide variant Matthew-Wood syndrome [RCV001119228] Chr15:74189260 [GRCh38]
Chr15:74481601 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1942A>C (p.Asn648His) single nucleotide variant Matthew-Wood syndrome [RCV001232775] Chr15:74180142 [GRCh38]
Chr15:74472483 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.*72C>T single nucleotide variant Matthew-Wood syndrome [RCV001117531] Chr15:74180008 [GRCh38]
Chr15:74472349 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1301-12C>T single nucleotide variant Matthew-Wood syndrome [RCV001117645]|not provided [RCV004704416] Chr15:74182472 [GRCh38]
Chr15:74474813 [GRCh37]
Chr15:15q24.1		 benign|likely benign
NM_022369.4(STRA6):c.1419-9C>A single nucleotide variant Matthew-Wood syndrome [RCV001203399] Chr15:74182271 [GRCh38]
Chr15:74474612 [GRCh37]
Chr15:15q24.1		 likely benign|uncertain significance
NM_022369.4(STRA6):c.785G>T (p.Ser262Ile) single nucleotide variant Matthew-Wood syndrome [RCV001197367] Chr15:74191427 [GRCh38]
Chr15:74483768 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.180A>G (p.Ser60=) single nucleotide variant Matthew-Wood syndrome [RCV001116310] Chr15:74197752 [GRCh38]
Chr15:74490093 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.-15-14G>T single nucleotide variant Matthew-Wood syndrome [RCV001116311] Chr15:74202296 [GRCh38]
Chr15:74494637 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.347del (p.Leu116fs) deletion Matthew-Wood syndrome [RCV001265555] Chr15:74196067 [GRCh38]
Chr15:74488408 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.1301-6T>A single nucleotide variant Matthew-Wood syndrome [RCV001265556] Chr15:74182466 [GRCh38]
Chr15:74474807 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.62dup (p.Ser22fs) duplication Matthew-Wood syndrome [RCV001332463] Chr15:74202205..74202206 [GRCh38]
Chr15:74494546..74494547 [GRCh37]
Chr15:15q24.1		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1 copy number loss not provided [RCV001259708] Chr15:74398162..76054094 [GRCh37]
Chr15:15q24.1-24.2		 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_022369.4(STRA6):c.1520G>A (p.Arg507Gln) single nucleotide variant Matthew-Wood syndrome [RCV001303308] Chr15:74182161 [GRCh38]
Chr15:74474502 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001142617.2(STRA6):c.-16+1080T>G single nucleotide variant not provided [RCV001355206] Chr15:74207720 [GRCh38]
Chr15:74500061 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.480T>G (p.Pro160=) single nucleotide variant Matthew-Wood syndrome [RCV001443277] Chr15:74195419 [GRCh38]
Chr15:74487760 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.-15-62del deletion not provided [RCV001645728] Chr15:74202344 [GRCh38]
Chr15:74494685 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1521-211T>G single nucleotide variant not provided [RCV001615422] Chr15:74181669 [GRCh38]
Chr15:74474010 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.431-37C>T single nucleotide variant not provided [RCV001716119] Chr15:74195505 [GRCh38]
Chr15:74487846 [GRCh37]
Chr15:15q24.1		 benign
NM_001142617.2(STRA6):c.-15-934_-15-933del deletion not provided [RCV001710199] Chr15:74203215..74203216 [GRCh38]
Chr15:74495556..74495557 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1300+262A>G single nucleotide variant not provided [RCV001652485] Chr15:74183594 [GRCh38]
Chr15:74475935 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.-16+157_-16+158insGACGA insertion not provided [RCV001590289] Chr15:74202555..74202556 [GRCh38]
Chr15:74494896..74494897 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.649G>A (p.Gly217Arg) single nucleotide variant not provided [RCV001767110] Chr15:74193871 [GRCh38]
Chr15:74486212 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1167-2_1167-1del deletion not provided [RCV001797203] Chr15:74183990..74183991 [GRCh38]
Chr15:74476331..74476332 [GRCh37]
Chr15:15q24.1		 likely pathogenic
NM_022369.4(STRA6):c.92dup (p.Glu32fs) duplication Matthew-Wood syndrome [RCV005367845] Chr15:74202175..74202176 [GRCh38]
Chr15:74494516..74494517 [GRCh37]
Chr15:15q24.1		 likely pathogenic
NM_022369.4(STRA6):c.1594C>T (p.Arg532Ter) single nucleotide variant Matthew-Wood syndrome [RCV001814902]|not provided [RCV002473301] Chr15:74181385 [GRCh38]
Chr15:74473726 [GRCh37]
Chr15:15q24.1		 pathogenic
NC_000015.9:g.(?_72978569)_(75722716_?)del deletion not provided [RCV001863697] Chr15:72978569..75722716 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_022369.4(STRA6):c.1694C>T (p.Thr565Met) single nucleotide variant Inborn genetic diseases [RCV002547904]|Matthew-Wood syndrome [RCV001863564] Chr15:74180928 [GRCh38]
Chr15:74473269 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.985del (p.Val329fs) deletion Matthew-Wood syndrome [RCV001884155] Chr15:74189220 [GRCh38]
Chr15:74481561 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.1418+18T>G single nucleotide variant Matthew-Wood syndrome [RCV002109306] Chr15:74182325 [GRCh38]
Chr15:74474666 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1419-11C>T single nucleotide variant Matthew-Wood syndrome [RCV002113554] Chr15:74182273 [GRCh38]
Chr15:74474614 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1300+18G>A single nucleotide variant Matthew-Wood syndrome [RCV002122441] Chr15:74183838 [GRCh38]
Chr15:74476179 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1521-208del deletion not provided [RCV002286105] Chr15:74181666 [GRCh38]
Chr15:74474007 [GRCh37]
Chr15:15q24.1		 likely benign
NM_001199040.2(STRA6):c.96+123C>T single nucleotide variant not provided [RCV002286115] Chr15:74209236 [GRCh38]
Chr15:74501577 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1091-118G>C single nucleotide variant not provided [RCV002286293] Chr15:74185173 [GRCh38]
Chr15:74477514 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1300+187G>T single nucleotide variant not provided [RCV002286316] Chr15:74183669 [GRCh38]
Chr15:74476010 [GRCh37]
Chr15:15q24.1		 likely benign
GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094) copy number loss Hearing impairment [RCV002280767] Chr15:74398068..76054094 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_022369.4(STRA6):c.1699C>T (p.Arg567Ter) single nucleotide variant Microphthalmia [RCV002291349] Chr15:74180923 [GRCh38]
Chr15:74473264 [GRCh37]
Chr15:15q24.1		 likely pathogenic
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
NM_022369.4(STRA6):c.1037A>C (p.Glu346Ala) single nucleotide variant not specified [RCV002470125] Chr15:74189168 [GRCh38]
Chr15:74481509 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.141A>G (p.Ile47Met) single nucleotide variant Inborn genetic diseases [RCV002779311] Chr15:74197791 [GRCh38]
Chr15:74490132 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.794A>T (p.His265Leu) single nucleotide variant Matthew-Wood syndrome [RCV002904873] Chr15:74191238 [GRCh38]
Chr15:74483579 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.160G>T (p.Ala54Ser) single nucleotide variant Inborn genetic diseases [RCV003367939]|Matthew-Wood syndrome [RCV002996542] Chr15:74197772 [GRCh38]
Chr15:74490113 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1035C>T (p.Ser345=) single nucleotide variant Matthew-Wood syndrome [RCV002996296] Chr15:74189170 [GRCh38]
Chr15:74481511 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1912C>T (p.Arg638Cys) single nucleotide variant Inborn genetic diseases [RCV002799990] Chr15:74180172 [GRCh38]
Chr15:74472513 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.221G>A (p.Arg74His) single nucleotide variant Inborn genetic diseases [RCV002660548] Chr15:74197383 [GRCh38]
Chr15:74489724 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1817T>G (p.Leu606Arg) single nucleotide variant Inborn genetic diseases [RCV002704761] Chr15:74180805 [GRCh38]
Chr15:74473146 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1157T>C (p.Val386Ala) single nucleotide variant Inborn genetic diseases [RCV002976859] Chr15:74184989 [GRCh38]
Chr15:74477330 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1714A>T (p.Ile572Phe) single nucleotide variant Inborn genetic diseases [RCV002873143] Chr15:74180908 [GRCh38]
Chr15:74473249 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1167-18C>T single nucleotide variant Matthew-Wood syndrome [RCV002721203] Chr15:74184007 [GRCh38]
Chr15:74476348 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.583C>A (p.Pro195Thr) single nucleotide variant Inborn genetic diseases [RCV002809070] Chr15:74195316 [GRCh38]
Chr15:74487657 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001199040.2(STRA6):c.35T>A (p.Val12Asp) single nucleotide variant Inborn genetic diseases [RCV002723467] Chr15:74209420 [GRCh38]
Chr15:74501761 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.928-17C>T single nucleotide variant Matthew-Wood syndrome [RCV003072109] Chr15:74189294 [GRCh38]
Chr15:74481635 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1385del (p.Asn462fs) deletion not provided [RCV000413306] Chr15:74182376 [GRCh38]
Chr15:74474717 [GRCh37]
Chr15:15q24.1		 pathogenic
NM_022369.4(STRA6):c.842A>G (p.His281Arg) single nucleotide variant Inborn genetic diseases [RCV004026967]|not provided [RCV000729239] Chr15:74191190 [GRCh38]
Chr15:74483531 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.927+184T>C single nucleotide variant not provided [RCV001641168] Chr15:74190656 [GRCh38]
Chr15:74482997 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.145C>T (p.Pro49Ser) single nucleotide variant Matthew-Wood syndrome [RCV001435864] Chr15:74197787 [GRCh38]
Chr15:74490128 [GRCh37]
Chr15:15q24.1		 likely benign
NM_001142617.2(STRA6):c.-16+1088G>A single nucleotide variant not provided [RCV001654924] Chr15:74207712 [GRCh38]
Chr15:74500053 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1285G>C (p.Ala429Pro) single nucleotide variant Matthew-Wood syndrome [RCV001374460] Chr15:74183871 [GRCh38]
Chr15:74476212 [GRCh37]
Chr15:15q24.1		 likely pathogenic
NC_000015.9:g.(?_72978569)_(75190071_?)dup duplication Bardet-Biedl syndrome [RCV003122929] Chr15:72978569..75190071 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1595G>T (p.Arg532Leu) single nucleotide variant Matthew-Wood syndrome [RCV002226818] Chr15:74181384 [GRCh38]
Chr15:74473725 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.65G>C (p.Ser22Thr) single nucleotide variant Matthew-Wood syndrome [RCV002903083] Chr15:74202203 [GRCh38]
Chr15:74494544 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1337C>G (p.Thr446Ser) single nucleotide variant Inborn genetic diseases [RCV003280808] Chr15:74182424 [GRCh38]
Chr15:74474765 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1631T>C (p.Leu544Pro) single nucleotide variant not provided [RCV003218928] Chr15:74181348 [GRCh38]
Chr15:74473689 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.256G>A (p.Gly86Ser) single nucleotide variant Inborn genetic diseases [RCV003175385] Chr15:74197348 [GRCh38]
Chr15:74489689 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232) copy number loss Chromosome 15q24 deletion syndrome [RCV003319589] Chr15:72943184..76085232 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_022369.4(STRA6):c.1669G>A (p.Ala557Thr) single nucleotide variant Inborn genetic diseases [RCV003309818] Chr15:74181310 [GRCh38]
Chr15:74473651 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1135C>T (p.Leu379=) single nucleotide variant not provided [RCV003394991] Chr15:74185011 [GRCh38]
Chr15:74477352 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1900C>T (p.Arg634Cys) single nucleotide variant STRA6-related disorder [RCV004529363] Chr15:74180184 [GRCh38]
Chr15:74472525 [GRCh37]
Chr15:15q24.1		 uncertain significance
NC_000015.10:g.74217353C>A single nucleotide variant not provided [RCV003394994] Chr15:74217353 [GRCh38]
Chr15:74509694 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.147C>T (p.Pro49=) single nucleotide variant not provided [RCV003394993] Chr15:74197785 [GRCh38]
Chr15:74490126 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1222C>G (p.Arg408Gly) single nucleotide variant STRA6-related disorder [RCV004528732] Chr15:74183934 [GRCh38]
Chr15:74476275 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.534G>A (p.Thr178=) single nucleotide variant not provided [RCV003394992] Chr15:74195365 [GRCh38]
Chr15:74487706 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.927+11C>A single nucleotide variant Matthew-Wood syndrome [RCV003601377] Chr15:74190829 [GRCh38]
Chr15:74483170 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.431-16T>C single nucleotide variant Matthew-Wood syndrome [RCV003601455] Chr15:74195484 [GRCh38]
Chr15:74487825 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.498G>A (p.Thr166=) single nucleotide variant Matthew-Wood syndrome [RCV003863577] Chr15:74195401 [GRCh38]
Chr15:74487742 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.648C>T (p.Leu216=) single nucleotide variant Matthew-Wood syndrome [RCV005103043]|STRA6-related disorder [RCV004540825] Chr15:74193872 [GRCh38]
Chr15:74486213 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1839A>T (p.Glu613Asp) single nucleotide variant STRA6-related disorder [RCV004531977] Chr15:74180783 [GRCh38]
Chr15:74473124 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001199040.2(STRA6):c.57G>A (p.Arg19=) single nucleotide variant STRA6-related disorder [RCV004537042] Chr15:74209398 [GRCh38]
Chr15:74501739 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.267-4C>T single nucleotide variant STRA6-related disorder [RCV004542490] Chr15:74196151 [GRCh38]
Chr15:74488492 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.354C>T (p.Leu118=) single nucleotide variant STRA6-related disorder [RCV004537053] Chr15:74196060 [GRCh38]
Chr15:74488401 [GRCh37]
Chr15:15q24.1		 likely benign
NM_001199040.2(STRA6):c.96+1623C>T single nucleotide variant STRA6-related disorder [RCV004539238] Chr15:74207736 [GRCh38]
Chr15:74500077 [GRCh37]
Chr15:15q24.1		 likely benign
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
NC_000015.9:g.(?_72978569)_(75190071_?)del deletion Brugada syndrome 8 [RCV004583054] Chr15:72978569..75190071 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.602A>G (p.Tyr201Cys) single nucleotide variant Inborn genetic diseases [RCV004681701] Chr15:74193918 [GRCh38]
Chr15:74486259 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.151C>G (p.Leu51Val) single nucleotide variant Inborn genetic diseases [RCV004681702] Chr15:74197781 [GRCh38]
Chr15:74490122 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1669G>T (p.Ala557Ser) single nucleotide variant Inborn genetic diseases [RCV004668185] Chr15:74181310 [GRCh38]
Chr15:74473651 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.244C>T (p.Arg82Cys) single nucleotide variant Inborn genetic diseases [RCV004668186] Chr15:74197360 [GRCh38]
Chr15:74489701 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.553G>C (p.Gly185Arg) single nucleotide variant Inborn genetic diseases [RCV004969099] Chr15:74195346 [GRCh38]
Chr15:74487687 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.94G>A (p.Glu32Lys) single nucleotide variant Inborn genetic diseases [RCV004969096] Chr15:74202174 [GRCh38]
Chr15:74494515 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.697C>T (p.Arg233Cys) single nucleotide variant Inborn genetic diseases [RCV004969095] Chr15:74193823 [GRCh38]
Chr15:74486164 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.580T>A (p.Cys194Ser) single nucleotide variant Inborn genetic diseases [RCV004969097] Chr15:74195319 [GRCh38]
Chr15:74487660 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.92G>A (p.Gly31Asp) single nucleotide variant Inborn genetic diseases [RCV004969098] Chr15:74202176 [GRCh38]
Chr15:74494517 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.903A>G (p.Thr301=) single nucleotide variant Matthew-Wood syndrome [RCV005195418] Chr15:74190864 [GRCh38]
Chr15:74483205 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.927+12A>G single nucleotide variant Matthew-Wood syndrome [RCV005105727] Chr15:74190828 [GRCh38]
Chr15:74483169 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.255C>T (p.Pro85=) single nucleotide variant Matthew-Wood syndrome [RCV005192857] Chr15:74197349 [GRCh38]
Chr15:74489690 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.396A>C (p.Ala132=) single nucleotide variant Matthew-Wood syndrome [RCV005143836] Chr15:74196018 [GRCh38]
Chr15:74488359 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1167-11T>A single nucleotide variant Matthew-Wood syndrome [RCV005150406] Chr15:74184000 [GRCh38]
Chr15:74476341 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.266+9C>A single nucleotide variant Matthew-Wood syndrome [RCV005123351] Chr15:74197329 [GRCh38]
Chr15:74489670 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1365G>C (p.Met455Ile) single nucleotide variant Matthew-Wood syndrome [RCV005160069] Chr15:74182396 [GRCh38]
Chr15:74474737 [GRCh37]
Chr15:15q24.1		 benign
NM_022369.4(STRA6):c.1477G>A (p.Val493Ile) single nucleotide variant Inborn genetic diseases [RCV005291417] Chr15:74182204 [GRCh38]
Chr15:74474545 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.766T>C (p.Cys256Arg) single nucleotide variant Inborn genetic diseases [RCV005291418] Chr15:74191446 [GRCh38]
Chr15:74483787 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.605A>G (p.Lys202Arg) single nucleotide variant Inborn genetic diseases [RCV005291421] Chr15:74193915 [GRCh38]
Chr15:74486256 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1399C>T (p.Arg467Cys) single nucleotide variant Inborn genetic diseases [RCV005283649]|Matthew-Wood syndrome [RCV005255832] Chr15:74182362 [GRCh38]
Chr15:74474703 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1713G>T (p.Lys571Asn) single nucleotide variant Inborn genetic diseases [RCV005291415] Chr15:74180909 [GRCh38]
Chr15:74473250 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.913A>G (p.Thr305Ala) single nucleotide variant Inborn genetic diseases [RCV005291420] Chr15:74190854 [GRCh38]
Chr15:74483195 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.695G>C (p.Ser232Thr) single nucleotide variant Inborn genetic diseases [RCV005291422] Chr15:74193825 [GRCh38]
Chr15:74486166 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1558C>T (p.Leu520Phe) single nucleotide variant Inborn genetic diseases [RCV005291416] Chr15:74181421 [GRCh38]
Chr15:74473762 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.70T>G (p.Tyr24Asp) single nucleotide variant Inborn genetic diseases [RCV005291419] Chr15:74202198 [GRCh38]
Chr15:74494539 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001199040.2(STRA6):c.45G>A (p.Trp15Ter) single nucleotide variant Matthew-Wood syndrome [RCV005393981] Chr15:74209410 [GRCh38]
Chr15:74501751 [GRCh37]
Chr15:15q24.1		 likely pathogenic
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_022369.4(STRA6):c.138C>G (p.Ser46Arg) single nucleotide variant Inborn genetic diseases [RCV003343051] Chr15:74197794 [GRCh38]
Chr15:74490135 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1190G>A (p.Arg397Gln) single nucleotide variant Inborn genetic diseases [RCV003355070] Chr15:74183966 [GRCh38]
Chr15:74476307 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1880G>A (p.Gly627Glu) single nucleotide variant Inborn genetic diseases [RCV003374853] Chr15:74180204 [GRCh38]
Chr15:74472545 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1841-12C>T single nucleotide variant Matthew-Wood syndrome [RCV003601922] Chr15:74180255 [GRCh38]
Chr15:74472596 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1922T>A (p.Leu641Gln) single nucleotide variant Matthew-Wood syndrome [RCV003990315] Chr15:74180162 [GRCh38]
Chr15:74472503 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1440C>T (p.Ala480=) single nucleotide variant STRA6-related disorder [RCV004544141] Chr15:74182241 [GRCh38]
Chr15:74474582 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.1148G>A (p.Arg383His) single nucleotide variant Inborn genetic diseases [RCV004458431] Chr15:74184998 [GRCh38]
Chr15:74477339 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1810G>C (p.Asp604His) single nucleotide variant Inborn genetic diseases [RCV004458434] Chr15:74180812 [GRCh38]
Chr15:74473153 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1848G>C (p.Gln616His) single nucleotide variant Inborn genetic diseases [RCV004458435] Chr15:74180236 [GRCh38]
Chr15:74472577 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1054G>C (p.Val352Leu) single nucleotide variant Inborn genetic diseases [RCV004458429] Chr15:74189151 [GRCh38]
Chr15:74481492 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1678G>A (p.Asp560Asn) single nucleotide variant Inborn genetic diseases [RCV004458433] Chr15:74181301 [GRCh38]
Chr15:74473642 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.358G>A (p.Asp120Asn) single nucleotide variant Inborn genetic diseases [RCV004458437] Chr15:74196056 [GRCh38]
Chr15:74488397 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1147C>T (p.Arg383Cys) single nucleotide variant Inborn genetic diseases [RCV004458430] Chr15:74184999 [GRCh38]
Chr15:74477340 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1208T>G (p.Leu403Trp) single nucleotide variant Inborn genetic diseases [RCV004458432] Chr15:74183948 [GRCh38]
Chr15:74476289 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1891G>A (p.Gly631Arg) single nucleotide variant Inborn genetic diseases [RCV004458436] Chr15:74180193 [GRCh38]
Chr15:74472534 [GRCh37]
Chr15:15q24.1		 likely benign
NM_022369.4(STRA6):c.712G>A (p.Gly238Ser) single nucleotide variant Inborn genetic diseases [RCV004458438] Chr15:74193808 [GRCh38]
Chr15:74486149 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.966C>G (p.Ile322Met) single nucleotide variant Inborn genetic diseases [RCV004458439]|Matthew-Wood syndrome [RCV005392798] Chr15:74189239 [GRCh38]
Chr15:74481580 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1496A>C (p.Asp499Ala) single nucleotide variant Inborn genetic diseases [RCV004668188] Chr15:74182185 [GRCh38]
Chr15:74474526 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.1624A>T (p.Ile542Phe) single nucleotide variant Inborn genetic diseases [RCV004668187]|Matthew-Wood syndrome [RCV005103470] Chr15:74181355 [GRCh38]
Chr15:74473696 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_022369.4(STRA6):c.928-11G>A single nucleotide variant not provided [RCV004781055] Chr15:74189288 [GRCh38]
Chr15:74481629 [GRCh37]
Chr15:15q24.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:7818
Count of miRNA genes:1211
Interacting mature miRNAs:1561
Transcripts:ENST00000323940, ENST00000395105, ENST00000416286, ENST00000423167, ENST00000432245, ENST00000449139, ENST00000535552, ENST00000545137, ENST00000563965, ENST00000569936, ENST00000571341, ENST00000572785, ENST00000572975, ENST00000573214, ENST00000573391, ENST00000573456, ENST00000573724, ENST00000574278, ENST00000574439, ENST00000574570, ENST00000575272
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
597195407GWAS1291481_Himmunoglobulin superfamily containing leucine-rich repeat protein 2 measurement QTL GWAS1291481 (human)1e-11immunoglobulin superfamily containing leucine-rich repeat protein 2 measurement157418037574180376Human
597099865GWAS1195939_Hcups of coffee per day measurement QTL GWAS1195939 (human)1e-19drinking behavior trait (VT:0001422)157418037574180376Human
597073512GWAS1169586_Hbehavioural inhibitory control measurement QTL GWAS1169586 (human)0.000007impulsivity behavior trait (VT:0010473)157418833874188339Human

Markers in Region
G30105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,471,810 - 74,471,919UniSTSGRCh37
Build 361572,258,863 - 72,258,972RGDNCBI36
Celera1551,418,991 - 51,419,100RGD
Cytogenetic Map15q24.1UniSTS
HuRef1551,265,481 - 51,265,590UniSTS
RH45099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,471,907 - 74,472,099UniSTSGRCh37
Build 361572,258,960 - 72,259,152RGDNCBI36
Celera1551,419,088 - 51,419,280RGD
Cytogenetic Map15q24.1UniSTS
HuRef1551,265,578 - 51,265,770UniSTS
GeneMap99-GB4 RH Map15255.98UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1126 2303 2408 2094 4835 1517 2100 4 427 1247 269 2165 5805 5555 42 3641 794 1717 1564 171 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001437994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC023545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF352728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF352729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF370419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX083364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX196266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY359089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB131492 (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
  DA700543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA746408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000323940   ⟹   ENSP00000326085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,179,466 - 74,209,030 (-)Ensembl
Ensembl Acc Id: ENST00000395105   ⟹   ENSP00000378537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,179,466 - 74,202,787 (-)Ensembl
Ensembl Acc Id: ENST00000416286   ⟹   ENSP00000400403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,179,466 - 74,212,267 (-)Ensembl
Ensembl Acc Id: ENST00000423167   ⟹   ENSP00000413012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,179,466 - 74,208,969 (-)Ensembl
Ensembl Acc Id: ENST00000432245   ⟹   ENSP00000407176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,194,387 - 74,208,978 (-)Ensembl
Ensembl Acc Id: ENST00000449139   ⟹   ENSP00000410221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,179,466 - 74,212,225 (-)Ensembl
Ensembl Acc Id: ENST00000535552   ⟹   ENSP00000440238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,179,815 - 74,209,705 (-)Ensembl
Ensembl Acc Id: ENST00000545137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,179,469 - 74,196,289 (-)Ensembl
Ensembl Acc Id: ENST00000563965   ⟹   ENSP00000456609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,179,975 - 74,202,858 (-)Ensembl
Ensembl Acc Id: ENST00000569936   ⟹   ENSP00000461799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,182,448 - 74,203,092 (-)Ensembl
Ensembl Acc Id: ENST00000571341   ⟹   ENSP00000458204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,197,338 - 74,202,450 (-)Ensembl
Ensembl Acc Id: ENST00000572785   ⟹   ENSP00000459546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,180,142 - 74,189,233 (-)Ensembl
Ensembl Acc Id: ENST00000572975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,190,885 - 74,192,008 (-)Ensembl
Ensembl Acc Id: ENST00000573214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,195,585 - 74,202,450 (-)Ensembl
Ensembl Acc Id: ENST00000573391   ⟹   ENSP00000458734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,197,339 - 74,203,056 (-)Ensembl
Ensembl Acc Id: ENST00000573456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,195,423 - 74,202,503 (-)Ensembl
Ensembl Acc Id: ENST00000573724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,195,331 - 74,202,405 (-)Ensembl
Ensembl Acc Id: ENST00000574278   ⟹   ENSP00000458827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,180,002 - 74,208,054 (-)Ensembl
Ensembl Acc Id: ENST00000574439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,179,469 - 74,203,215 (-)Ensembl
Ensembl Acc Id: ENST00000574570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,196,104 - 74,202,849 (-)Ensembl
Ensembl Acc Id: ENST00000575272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,182,227 - 74,182,878 (-)Ensembl
Ensembl Acc Id: ENST00000616000   ⟹   ENSP00000479112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,179,469 - 74,203,215 (-)Ensembl
RefSeq Acc Id: NM_001142617   ⟹   NP_001136089
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,179,466 - 74,208,989 (-)NCBI
GRCh371574,471,802 - 74,502,046 (-)NCBI
HuRef1551,265,478 - 51,295,736 (-)ENTREZGENE
CHM1_11574,590,002 - 74,619,563 (-)NCBI
T2T-CHM13v2.01572,045,386 - 72,074,912 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142618   ⟹   NP_001136090
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,179,466 - 74,203,057 (-)NCBI
GRCh371574,471,802 - 74,502,046 (-)NCBI
HuRef1551,265,478 - 51,295,736 (-)ENTREZGENE
CHM1_11574,590,002 - 74,613,748 (-)NCBI
T2T-CHM13v2.01572,045,386 - 72,068,977 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142619   ⟹   NP_001136091
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,179,466 - 74,208,989 (-)NCBI
GRCh371574,471,802 - 74,502,046 (-)NCBI
HuRef1551,265,478 - 51,295,736 (-)ENTREZGENE
CHM1_11574,590,002 - 74,619,563 (-)NCBI
T2T-CHM13v2.01572,045,386 - 72,074,912 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142620   ⟹   NP_001136092
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,194,387 - 74,208,989 (-)NCBI
GRCh371574,471,802 - 74,502,046 (-)NCBI
HuRef1551,265,478 - 51,295,736 (-)ENTREZGENE
CHM1_11574,604,920 - 74,619,563 (-)NCBI
T2T-CHM13v2.01572,060,307 - 72,074,912 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001199040   ⟹   NP_001185969
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,179,466 - 74,209,705 (-)NCBI
GRCh371574,471,802 - 74,502,046 (-)NCBI
HuRef1551,265,478 - 51,295,736 (-)ENTREZGENE
CHM1_11574,590,002 - 74,620,238 (-)NCBI
T2T-CHM13v2.01572,045,386 - 72,075,628 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001199041   ⟹   NP_001185970
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,179,466 - 74,208,054 (-)NCBI
GRCh371574,471,802 - 74,502,046 (-)NCBI
HuRef1551,265,478 - 51,295,736 (-)ENTREZGENE
CHM1_11574,590,002 - 74,618,587 (-)NCBI
T2T-CHM13v2.01572,045,386 - 72,073,977 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001199042   ⟹   NP_001185971
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,179,466 - 74,202,787 (-)NCBI
GRCh371574,471,802 - 74,502,046 (-)NCBI
HuRef1551,265,478 - 51,295,736 (-)ENTREZGENE
CHM1_11574,590,002 - 74,613,412 (-)NCBI
T2T-CHM13v2.01572,045,386 - 72,068,707 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022369   ⟹   NP_071764
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,179,466 - 74,202,787 (-)NCBI
GRCh371574,471,802 - 74,502,046 (-)NCBI
Build 361572,258,860 - 72,282,245 (-)NCBI Archive
HuRef1551,265,478 - 51,295,736 (-)ENTREZGENE
CHM1_11574,590,002 - 74,613,412 (-)NCBI
T2T-CHM13v2.01572,045,386 - 72,068,707 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521883   ⟹   XP_011520185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,179,466 - 74,212,259 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521885   ⟹   XP_011520187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,185,311 - 74,202,787 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022478   ⟹   XP_016877967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,179,466 - 74,202,787 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022479   ⟹   XP_016877968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,179,466 - 74,212,259 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054378604   ⟹   XP_054234579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,045,386 - 72,068,707 (-)NCBI
RefSeq Acc Id: XM_054378605   ⟹   XP_054234580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,045,386 - 72,078,184 (-)NCBI
RefSeq Acc Id: XM_054378606   ⟹   XP_054234581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,045,386 - 72,078,131 (-)NCBI
RefSeq Acc Id: XM_054378607   ⟹   XP_054234582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,051,231 - 72,068,707 (-)NCBI
RefSeq Acc Id: XR_008489003
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01572,047,360 - 72,068,707 (-)NCBI
RefSeq Acc Id: XR_931877
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,181,440 - 74,202,787 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001136089 (Get FASTA)   NCBI Sequence Viewer  
  NP_001136090 (Get FASTA)   NCBI Sequence Viewer  
  NP_001136091 (Get FASTA)   NCBI Sequence Viewer  
  NP_001136092 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185969 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185970 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185971 (Get FASTA)   NCBI Sequence Viewer  
  NP_001424923 (Get FASTA)   NCBI Sequence Viewer  
  NP_071764 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520185 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520187 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877967 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877968 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188523 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188524 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188525 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188526 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234579 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234580 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234581 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234582 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH15881 (Get FASTA)   NCBI Sequence Viewer  
  AAH25256 (Get FASTA)   NCBI Sequence Viewer  
  AAK30289 (Get FASTA)   NCBI Sequence Viewer  
  AAK30290 (Get FASTA)   NCBI Sequence Viewer  
  AAQ15255 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89108 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89447 (Get FASTA)   NCBI Sequence Viewer  
  BAB14122 (Get FASTA)   NCBI Sequence Viewer  
  BAF84655 (Get FASTA)   NCBI Sequence Viewer  
  BAG51630 (Get FASTA)   NCBI Sequence Viewer  
  BAG52293 (Get FASTA)   NCBI Sequence Viewer  
  BAG52498 (Get FASTA)   NCBI Sequence Viewer  
  BAH12903 (Get FASTA)   NCBI Sequence Viewer  
  BAH12904 (Get FASTA)   NCBI Sequence Viewer  
  BAH12965 (Get FASTA)   NCBI Sequence Viewer  
  BAH13848 (Get FASTA)   NCBI Sequence Viewer  
  CAC33287 (Get FASTA)   NCBI Sequence Viewer  
  CAC60092 (Get FASTA)   NCBI Sequence Viewer  
  CAD97655 (Get FASTA)   NCBI Sequence Viewer  
  EAW99353 (Get FASTA)   NCBI Sequence Viewer  
  EAW99354 (Get FASTA)   NCBI Sequence Viewer  
  EAW99355 (Get FASTA)   NCBI Sequence Viewer  
  EAW99356 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000326085
  ENSP00000326085.5
  ENSP00000378537
  ENSP00000378537.4
  ENSP00000407176
  ENSP00000407176.2
  ENSP00000410221
  ENSP00000410221.2
  ENSP00000413012
  ENSP00000413012.2
  ENSP00000440238
  ENSP00000440238.1
  ENSP00000456609
  ENSP00000456609.1
  ENSP00000458827
  ENSP00000458827.1
  ENSP00000479112
  ENSP00000479112.1
  ENSP00000499866.1
  ENSP00000499878.1
  ENSP00000499915.1
  ENSP00000500033.1
  ENSP00000500241.1
  ENSP00000500334.1
  ENSP00000500335.1
  ENSP00000500345.1
  ENSP00000500590.1
GenBank Protein Q9BX79 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001185969   ⟸   NM_001199040
- Peptide Label: isoform d
- UniProtKB: B3KPB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001136091   ⟸   NM_001142619
- Peptide Label: isoform b
- UniProtKB: B3KPB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001136089   ⟸   NM_001142617
- Peptide Label: isoform a
- UniProtKB: Q9BX78 (UniProtKB/Swiss-Prot),   Q8TB21 (UniProtKB/Swiss-Prot),   Q7Z3U9 (UniProtKB/Swiss-Prot),   Q7L9G1 (UniProtKB/Swiss-Prot),   Q71RB9 (UniProtKB/Swiss-Prot),   Q6PJF8 (UniProtKB/Swiss-Prot),   I3L1G8 (UniProtKB/Swiss-Prot),   F5GYI8 (UniProtKB/Swiss-Prot),   D3DW54 (UniProtKB/Swiss-Prot),   B7Z862 (UniProtKB/Swiss-Prot),   B7Z5M9 (UniProtKB/Swiss-Prot),   A8K7F1 (UniProtKB/Swiss-Prot),   Q9H9U8 (UniProtKB/Swiss-Prot),   Q9BX79 (UniProtKB/Swiss-Prot),   B3KPB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185970   ⟸   NM_001199041
- Peptide Label: isoform e
- UniProtKB: B3KPB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001136090   ⟸   NM_001142618
- Peptide Label: isoform a
- UniProtKB: Q9BX78 (UniProtKB/Swiss-Prot),   Q8TB21 (UniProtKB/Swiss-Prot),   Q7Z3U9 (UniProtKB/Swiss-Prot),   Q7L9G1 (UniProtKB/Swiss-Prot),   Q71RB9 (UniProtKB/Swiss-Prot),   Q6PJF8 (UniProtKB/Swiss-Prot),   I3L1G8 (UniProtKB/Swiss-Prot),   F5GYI8 (UniProtKB/Swiss-Prot),   D3DW54 (UniProtKB/Swiss-Prot),   B7Z862 (UniProtKB/Swiss-Prot),   B7Z5M9 (UniProtKB/Swiss-Prot),   A8K7F1 (UniProtKB/Swiss-Prot),   Q9H9U8 (UniProtKB/Swiss-Prot),   Q9BX79 (UniProtKB/Swiss-Prot),   B3KPB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_071764   ⟸   NM_022369
- Peptide Label: isoform a
- UniProtKB: Q9BX78 (UniProtKB/Swiss-Prot),   Q8TB21 (UniProtKB/Swiss-Prot),   Q7Z3U9 (UniProtKB/Swiss-Prot),   Q7L9G1 (UniProtKB/Swiss-Prot),   Q71RB9 (UniProtKB/Swiss-Prot),   Q6PJF8 (UniProtKB/Swiss-Prot),   I3L1G8 (UniProtKB/Swiss-Prot),   F5GYI8 (UniProtKB/Swiss-Prot),   D3DW54 (UniProtKB/Swiss-Prot),   B7Z862 (UniProtKB/Swiss-Prot),   B7Z5M9 (UniProtKB/Swiss-Prot),   A8K7F1 (UniProtKB/Swiss-Prot),   Q9H9U8 (UniProtKB/Swiss-Prot),   Q9BX79 (UniProtKB/Swiss-Prot),   B3KPB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185971   ⟸   NM_001199042
- Peptide Label: isoform f
- UniProtKB: B7Z5G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001136092   ⟸   NM_001142620
- Peptide Label: isoform c
- UniProtKB: Q9BX79 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520185   ⟸   XM_011521883
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011520187   ⟸   XM_011521885
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016877968   ⟸   XM_017022479
- Peptide Label: isoform X2
- UniProtKB: Q9BX78 (UniProtKB/Swiss-Prot),   Q8TB21 (UniProtKB/Swiss-Prot),   Q7Z3U9 (UniProtKB/Swiss-Prot),   Q7L9G1 (UniProtKB/Swiss-Prot),   Q71RB9 (UniProtKB/Swiss-Prot),   Q6PJF8 (UniProtKB/Swiss-Prot),   I3L1G8 (UniProtKB/Swiss-Prot),   F5GYI8 (UniProtKB/Swiss-Prot),   D3DW54 (UniProtKB/Swiss-Prot),   B7Z862 (UniProtKB/Swiss-Prot),   B7Z5M9 (UniProtKB/Swiss-Prot),   A8K7F1 (UniProtKB/Swiss-Prot),   Q9H9U8 (UniProtKB/Swiss-Prot),   Q9BX79 (UniProtKB/Swiss-Prot),   B3KPB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877967   ⟸   XM_017022478
- Peptide Label: isoform X1
- UniProtKB: B3KPB8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000413012   ⟸   ENST00000423167
Ensembl Acc Id: ENSP00000461799   ⟸   ENST00000569936
Ensembl Acc Id: ENSP00000458204   ⟸   ENST00000571341
Ensembl Acc Id: ENSP00000459546   ⟸   ENST00000572785
Ensembl Acc Id: ENSP00000326085   ⟸   ENST00000323940
Ensembl Acc Id: ENSP00000400403   ⟸   ENST00000416286
Ensembl Acc Id: ENSP00000458734   ⟸   ENST00000573391
Ensembl Acc Id: ENSP00000440238   ⟸   ENST00000535552
Ensembl Acc Id: ENSP00000458827   ⟸   ENST00000574278
Ensembl Acc Id: ENSP00000479112   ⟸   ENST00000616000
Ensembl Acc Id: ENSP00000456609   ⟸   ENST00000563965
Ensembl Acc Id: ENSP00000407176   ⟸   ENST00000432245
Ensembl Acc Id: ENSP00000378537   ⟸   ENST00000395105
Ensembl Acc Id: ENSP00000410221   ⟸   ENST00000449139
RefSeq Acc Id: XP_054234580   ⟸   XM_054378605
- Peptide Label: isoform X2
- UniProtKB: Q9BX79 (UniProtKB/Swiss-Prot),   Q9BX78 (UniProtKB/Swiss-Prot),   Q8TB21 (UniProtKB/Swiss-Prot),   Q7Z3U9 (UniProtKB/Swiss-Prot),   Q7L9G1 (UniProtKB/Swiss-Prot),   Q71RB9 (UniProtKB/Swiss-Prot),   Q6PJF8 (UniProtKB/Swiss-Prot),   I3L1G8 (UniProtKB/Swiss-Prot),   F5GYI8 (UniProtKB/Swiss-Prot),   D3DW54 (UniProtKB/Swiss-Prot),   B7Z862 (UniProtKB/Swiss-Prot),   B7Z5M9 (UniProtKB/Swiss-Prot),   A8K7F1 (UniProtKB/Swiss-Prot),   Q9H9U8 (UniProtKB/Swiss-Prot),   B3KPB8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234581   ⟸   XM_054378606
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054234579   ⟸   XM_054378604
- Peptide Label: isoform X1
- UniProtKB: B3KPB8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234582   ⟸   XM_054378607
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BX79-F1-model_v2 AlphaFold Q9BX79 1-667 view protein structure

Promoters
RGD ID:6792553
Promoter ID:HG_KWN:21889
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC002AXI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361572,275,681 - 72,276,181 (-)MPROMDB
RGD ID:6792630
Promoter ID:HG_KWN:21890
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000272890,   UC002AXJ.1,   UC002AXL.1,   UC010BJI.1,   UC010BJJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361572,282,181 - 72,282,681 (-)MPROMDB
RGD ID:6792624
Promoter ID:HG_KWN:21891
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_001142620,   OTTHUMT00000272891,   UC002AXN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361572,288,336 - 72,288,836 (-)MPROMDB
RGD ID:7230073
Promoter ID:EPDNEW_H20782
Type:initiation region
Name:STRA6_3
Description:stimulated by retinoic acid 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20783  EPDNEW_H20785  EPDNEW_H20784  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,202,450 - 74,202,510EPDNEW
RGD ID:7230075
Promoter ID:EPDNEW_H20783
Type:initiation region
Name:STRA6_1
Description:stimulated by retinoic acid 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20782  EPDNEW_H20785  EPDNEW_H20784  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,202,783 - 74,202,843EPDNEW
RGD ID:7230079
Promoter ID:EPDNEW_H20784
Type:initiation region
Name:STRA6_4
Description:stimulated by retinoic acid 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20782  EPDNEW_H20783  EPDNEW_H20785  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,203,057 - 74,203,117EPDNEW
RGD ID:7230077
Promoter ID:EPDNEW_H20785
Type:initiation region
Name:STRA6_2
Description:stimulated by retinoic acid 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20782  EPDNEW_H20783  EPDNEW_H20784  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,208,989 - 74,209,049EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30650 AgrOrtholog
COSMIC STRA6 COSMIC
Ensembl Genes ENSG00000137868 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000288257 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000323940 ENTREZGENE
  ENST00000323940.9 UniProtKB/Swiss-Prot
  ENST00000395105 ENTREZGENE
  ENST00000395105.9 UniProtKB/Swiss-Prot
  ENST00000423167 ENTREZGENE
  ENST00000423167.6 UniProtKB/Swiss-Prot
  ENST00000432245 ENTREZGENE
  ENST00000432245.6 UniProtKB/Swiss-Prot
  ENST00000449139 ENTREZGENE
  ENST00000449139.6 UniProtKB/Swiss-Prot
  ENST00000535552 ENTREZGENE
  ENST00000535552.5 UniProtKB/Swiss-Prot
  ENST00000563965 ENTREZGENE
  ENST00000563965.5 UniProtKB/Swiss-Prot
  ENST00000574278 ENTREZGENE
  ENST00000574278.5 UniProtKB/Swiss-Prot
  ENST00000616000 ENTREZGENE
  ENST00000616000.4 UniProtKB/Swiss-Prot
  ENST00000672446.1 UniProtKB/Swiss-Prot
  ENST00000672526.1 UniProtKB/Swiss-Prot
  ENST00000672584.1 UniProtKB/Swiss-Prot
  ENST00000672836.1 UniProtKB/Swiss-Prot
  ENST00000673026.1 UniProtKB/Swiss-Prot
  ENST00000673039.1 UniProtKB/Swiss-Prot
  ENST00000673241.1 UniProtKB/Swiss-Prot
  ENST00000673414.1 UniProtKB/Swiss-Prot
  ENST00000673519.1 UniProtKB/Swiss-Prot
GTEx ENSG00000137868 GTEx
  ENSG00000288257 GTEx
HGNC ID HGNC:30650 ENTREZGENE
Human Proteome Map STRA6 Human Proteome Map
InterPro STRA6 UniProtKB/Swiss-Prot
KEGG Report hsa:64220 UniProtKB/Swiss-Prot
NCBI Gene 64220 ENTREZGENE
OMIM 610745 OMIM
PANTHER COILED-COIL DOMAIN-CONTAINING PROTEIN 180 UniProtKB/Swiss-Prot
  PTHR21444:SF16 UniProtKB/Swiss-Prot
Pfam RBP_receptor UniProtKB/Swiss-Prot
PharmGKB PA134956551 PharmGKB
RNAcentral URS0000D6DBB9 RNACentral
  URS0000D6E254 RNACentral
  URS000195628C RNACentral
UniProt A8K7F1 ENTREZGENE
  B3KPB8 ENTREZGENE, UniProtKB/TrEMBL
  B7Z5G7 ENTREZGENE, UniProtKB/TrEMBL
  B7Z5M9 ENTREZGENE
  B7Z862 ENTREZGENE
  D3DW54 ENTREZGENE
  F5GYI8 ENTREZGENE
  I3L0M6_HUMAN UniProtKB/TrEMBL
  I3L1C7_HUMAN UniProtKB/TrEMBL
  I3L1G8 ENTREZGENE
  I3L2B6_HUMAN UniProtKB/TrEMBL
  I3NI08_HUMAN UniProtKB/TrEMBL
  J3KQI6_HUMAN UniProtKB/TrEMBL
  L8E774_HUMAN UniProtKB/TrEMBL
  Q6PJF8 ENTREZGENE
  Q71RB9 ENTREZGENE
  Q7L9G1 ENTREZGENE
  Q7Z3U9 ENTREZGENE
  Q8TB21 ENTREZGENE
  Q9BX78 ENTREZGENE
  Q9BX79 ENTREZGENE
  Q9H9U8 ENTREZGENE
  STRA6_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K7F1 UniProtKB/Swiss-Prot
  B7Z5M9 UniProtKB/Swiss-Prot
  B7Z862 UniProtKB/Swiss-Prot
  D3DW54 UniProtKB/Swiss-Prot
  F5GYI8 UniProtKB/Swiss-Prot
  I3L1G8 UniProtKB/Swiss-Prot
  Q6PJF8 UniProtKB/Swiss-Prot
  Q71RB9 UniProtKB/Swiss-Prot
  Q7L9G1 UniProtKB/Swiss-Prot
  Q7Z3U9 UniProtKB/Swiss-Prot
  Q8TB21 UniProtKB/Swiss-Prot
  Q9BX78 UniProtKB/Swiss-Prot
  Q9H9U8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-10-16 STRA6  signaling receptor and transporter of retinol STRA6  STRA6  stimulated by retinoic acid 6  Symbol and/or name change 5135510 APPROVED
2012-12-12 STRA6  stimulated by retinoic acid 6  STRA6  stimulated by retinoic acid 6 homolog (mouse)  Symbol and/or name change 5135510 APPROVED
2012-11-20 STRA6  stimulated by retinoic acid 6 homolog (mouse)  STRA6  stimulated by retinoic acid gene 6 homolog (mouse)  Symbol and/or name change 5135510 APPROVED