SLC47A1 (solute carrier family 47 member 1) - Rat Genome Database

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Gene: SLC47A1 (solute carrier family 47 member 1) Homo sapiens
Analyze
Symbol: SLC47A1
Name: solute carrier family 47 member 1
RGD ID: 1605371
HGNC Page HGNC:25588
Description: Enables organic cation transmembrane transporter activity; polyspecific organic cation:proton antiporter activity; and xenobiotic transmembrane transporter activity. Involved in L-arginine import across plasma membrane; putrescine transport; and xenobiotic detoxification by transmembrane export across the plasma membrane. Located in apical plasma membrane and basolateral plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ10847; hMATE-1; MATE-1; MATE1; MGC64822; multidrug and toxin extrusion 1; multidrug and toxin extrusion protein 1; solute carrier family 47 (multidrug and toxin extrusion), member 1; solute carrier family 47, member 1
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SLC47A1P1   SLC47A1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381719,533,854 - 19,579,034 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1719,495,385 - 19,579,034 (+)EnsemblGRCh38hg38GRCh38
GRCh371719,437,167 - 19,482,347 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361719,377,759 - 19,422,938 (+)NCBINCBI36Build 36hg18NCBI36
Celera1716,849,963 - 16,895,249 (+)NCBICelera
Cytogenetic Map17p11.2NCBI
HuRef1718,816,528 - 18,861,586 (+)NCBIHuRef
CHM1_11719,446,156 - 19,491,334 (+)NCBICHM1_1
T2T-CHM13v2.01719,482,011 - 19,527,180 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R,R)-tramadol  (EXP)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
2-Ethyl-1,3-hexanediol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-[[oxo(pyridin-4-yl)methyl]hydrazo]-N-(phenylmethyl)propanamide  (EXP)
3-Amino-1-methyl-5H-pyrido[4,3-b]indole  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
agmatine  (EXP)
alpha-Zearalanol  (ISO)
amantadine  (EXP)
amiloride  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atropine  (EXP)
Azoxymethane  (ISO)
Bardoxolone methyl  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
captan  (ISO)
chloramphenicol  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
cimetidine  (EXP,ISO)
cinchonidine  (EXP)
cinchonine  (EXP)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clonidine  (EXP)
clonidine (amino form)  (EXP)
clonidine (imino form)  (EXP)
copper(II) sulfate  (EXP)
creatinine  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP)
dextran sulfate  (ISO)
diiodine  (ISO)
dioxygen  (EXP)
dipyridamole  (EXP)
dorsomorphin  (EXP)
entinostat  (EXP)
famotidine  (EXP)
fenthion  (ISO)
folpet  (ISO)
fulvestrant  (EXP)
genistein  (ISO)
gentamycin  (ISO)
Guanfacine  (EXP)
guanidine  (EXP)
hexane  (ISO)
histamine  (EXP)
imipramine  (EXP)
imiquimod  (EXP)
inulin  (ISO)
ketoconazole  (EXP)
mebendazole  (EXP)
medroxyprogesterone acetate  (EXP)
metformin  (EXP,ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
midodrine  (EXP)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (EXP)
naloxone  (EXP)
nickel atom  (EXP)
nickel sulfate  (EXP)
nicotine  (EXP)
NMN zwitterion  (EXP)
O-methyleugenol  (EXP)
Ondansetron  (EXP,ISO)
oxaliplatin  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (EXP)
phentolamine  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
procainamide  (EXP)
progesterone  (EXP)
proguanil  (EXP)
propranolol  (EXP)
pyrimethamine  (EXP)
quinidine  (EXP)
quinine  (EXP)
ranitidine  (EXP)
rifampicin  (EXP)
SB 431542  (EXP)
scopolamine  (EXP)
serotonin  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Soman  (ISO)
sulfadimethoxine  (EXP)
sulfamerazine  (EXP)
sulforaphane  (EXP)
sunitinib  (EXP)
tacrine  (EXP)
tebufenpyrad  (EXP)
testosterone  (ISO)
tetrabutylammonium  (EXP,ISO)
tetrachloromethane  (ISO)
tetraethylammonium  (EXP,ISO)
tetramethylammonium  (EXP,ISO)
tetrapentylammonium  (EXP)
tetrapropylammonium  (EXP,ISO)
ticlopidine  (EXP)
titanium dioxide  (ISO)
topiramate  (EXP)
topotecan  (ISO)
tramadol  (EXP)
triazines  (ISO)
trichlormethiazide  (EXP)
triclosan  (EXP)
trimethoprim  (EXP)
triptonide  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (EXP)
tyramine  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
verapamil  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
zafirlukast  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Membrane transporters as mediators of Cisplatin effects and side effects. Ciarimboli G Scientifica (Cairo). 2012;2012:473829. doi: 10.6064/2012/473829. Epub 2012 Nov 25.
2. Metformin pathways: pharmacokinetics and pharmacodynamics. Gong L, etal., Pharmacogenet Genomics. 2012 Nov;22(11):820-7. doi: 10.1097/FPC.0b013e3283559b22.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:11997338   PMID:12477932   PMID:14702039   PMID:16330770   PMID:16928787   PMID:16996621   PMID:17047166   PMID:17495125   PMID:17509534   PMID:17855482   PMID:18305230  
PMID:19158817   PMID:19172157   PMID:19228809   PMID:19536068   PMID:19745787   PMID:19898263   PMID:20016398   PMID:20047987   PMID:20053795   PMID:20067714   PMID:20682687   PMID:21128598  
PMID:21873635   PMID:22242910   PMID:22569819   PMID:22722930   PMID:22735389   PMID:22882994   PMID:23267855   PMID:23303678   PMID:23630107   PMID:23864433   PMID:24961373   PMID:25241911  
PMID:25753371   PMID:25862351   PMID:26004431   PMID:26186194   PMID:26538438   PMID:26784938   PMID:27025966   PMID:27178732   PMID:27226103   PMID:27271370   PMID:27418674   PMID:27590272  
PMID:27635733   PMID:28112518   PMID:28321905   PMID:28514442   PMID:28992563   PMID:29070695   PMID:29704007   PMID:30433870   PMID:30910922   PMID:31073040   PMID:31791063   PMID:32296183  
PMID:32708212   PMID:33961781   PMID:35163393   PMID:36575162   PMID:36786075  


Genomics

Comparative Map Data
SLC47A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381719,533,854 - 19,579,034 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1719,495,385 - 19,579,034 (+)EnsemblGRCh38hg38GRCh38
GRCh371719,437,167 - 19,482,347 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361719,377,759 - 19,422,938 (+)NCBINCBI36Build 36hg18NCBI36
Celera1716,849,963 - 16,895,249 (+)NCBICelera
Cytogenetic Map17p11.2NCBI
HuRef1718,816,528 - 18,861,586 (+)NCBIHuRef
CHM1_11719,446,156 - 19,491,334 (+)NCBICHM1_1
T2T-CHM13v2.01719,482,011 - 19,527,180 (+)NCBIT2T-CHM13v2.0
Slc47a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391161,234,226 - 61,269,668 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1161,234,227 - 61,269,171 (-)EnsemblGRCm39 Ensembl
GRCm381161,343,400 - 61,378,842 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1161,343,401 - 61,378,345 (-)EnsemblGRCm38mm10GRCm38
MGSCv371161,156,902 - 61,191,577 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361161,159,595 - 61,194,259 (-)NCBIMGSCv36mm8
MGSCv361161,773,092 - 61,807,757 (-)NCBIMGSCv36mm8
Cytogenetic Map11B2NCBI
cM Map1137.96NCBI
Slc47a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81046,533,580 - 46,590,128 (-)NCBIGRCr8
mRatBN7.21046,034,115 - 46,088,617 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1046,034,122 - 46,087,637 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1050,738,327 - 50,772,534 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01050,228,852 - 50,263,054 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01045,732,272 - 45,766,477 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01047,631,425 - 47,685,379 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1047,632,192 - 47,666,921 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01047,405,592 - 47,440,116 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41047,514,258 - 47,548,353 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11047,526,815 - 47,561,996 (-)NCBI
Celera1045,287,837 - 45,321,882 (-)NCBICelera
Cytogenetic Map10q22NCBI
SLC47A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21954,546,053 - 54,590,827 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11759,357,895 - 59,403,316 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01731,532,821 - 31,577,523 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11736,697,753 - 36,741,618 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1736,695,965 - 36,741,618 (-)Ensemblpanpan1.1panPan2
SLC47A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1540,643,420 - 40,679,130 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl540,642,784 - 40,679,946 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha540,784,775 - 40,821,055 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0540,751,334 - 40,787,406 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl540,750,862 - 40,788,216 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1540,719,937 - 40,756,209 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0540,666,150 - 40,702,838 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0540,858,535 - 40,895,055 (-)NCBIUU_Cfam_GSD_1.0
SLC47A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1260,021,188 - 60,056,938 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11260,021,176 - 60,114,488 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SLC47A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11618,124,681 - 18,168,702 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1618,125,252 - 18,169,552 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660592,677,293 - 2,726,316 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc47a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248495,776,180 - 5,830,871 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248495,775,925 - 5,831,941 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC47A1
59 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 copy number loss See cases [RCV000050602] Chr17:15898032..20620700 [GRCh38]
Chr17:15801346..20524013 [GRCh37]
Chr17:15742071..20464605 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3 copy number gain See cases [RCV000050622] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1 copy number loss See cases [RCV000050624] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 copy number gain See cases [RCV000051852] Chr17:15259164..20925299 [GRCh38]
Chr17:15162481..20828612 [GRCh37]
Chr17:15103206..20769204 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3 copy number gain See cases [RCV000051853] Chr17:15897832..20620841 [GRCh38]
Chr17:15801146..20524154 [GRCh37]
Chr17:15741871..20464746 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3 copy number gain See cases [RCV000051876] Chr17:16836827..20340442 [GRCh38]
Chr17:16740141..20243755 [GRCh37]
Chr17:16680866..20184347 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3 copy number gain See cases [RCV000051855] Chr17:16656168..20390725 [GRCh38]
Chr17:16559482..20294038 [GRCh37]
Chr17:16500207..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3 copy number gain See cases [RCV000051877] Chr17:16836827..20504849 [GRCh38]
Chr17:16740141..20408162 [GRCh37]
Chr17:16680866..20348754 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3 copy number gain See cases [RCV000051879] Chr17:16919369..20289856 [GRCh38]
Chr17:16822683..20193169 [GRCh37]
Chr17:16763408..20133761 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3 copy number gain See cases [RCV000051858] Chr17:16692462..20390725 [GRCh38]
Chr17:16595776..20294038 [GRCh37]
Chr17:16536501..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3 copy number gain See cases [RCV000051860] Chr17:16713514..20582527 [GRCh38]
Chr17:16616828..20485840 [GRCh37]
Chr17:16557553..20426432 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3 copy number gain See cases [RCV000051871] Chr17:16713515..20340442 [GRCh38]
Chr17:16616829..20243755 [GRCh37]
Chr17:16557554..20184347 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 copy number gain See cases [RCV000051849] Chr17:15234685..20620700 [GRCh38]
Chr17:15138002..20524013 [GRCh37]
Chr17:15078727..20464605 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3 copy number gain See cases [RCV000051872] Chr17:16760817..20429770 [GRCh38]
Chr17:16664131..20333083 [GRCh37]
Chr17:16604856..20273675 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3 copy number gain See cases [RCV000051873] Chr17:16760818..20504849 [GRCh38]
Chr17:16664132..20408162 [GRCh37]
Chr17:16604857..20348754 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1 copy number loss See cases [RCV000054330] Chr17:16060129..20620841 [GRCh38]
Chr17:15963443..20524154 [GRCh37]
Chr17:15904168..20464746 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1 copy number loss See cases [RCV000054337] Chr17:16760818..20390725 [GRCh38]
Chr17:16664132..20294038 [GRCh37]
Chr17:16604857..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3 copy number gain See cases [RCV000054008] Chr17:18828089..20467764 [GRCh38]
Chr17:18731402..20371077 [GRCh37]
Chr17:18672127..20311669 [NCBI36]
Chr17:17p11.2		 uncertain significance
GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3 copy number gain See cases [RCV000054009] Chr17:19070690..21619442 [GRCh38]
Chr17:18974003..21522709 [GRCh37]
Chr17:18914728..21463302 [NCBI36]
Chr17:17p11.2		 uncertain significance
GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1 copy number loss See cases [RCV000054355] Chr17:16836827..20465067 [GRCh38]
Chr17:16740141..20368380 [GRCh37]
Chr17:16680866..20308972 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1 copy number loss See cases [RCV000054356] Chr17:16858444..20340442 [GRCh38]
Chr17:16761758..20243755 [GRCh37]
Chr17:16702483..20184347 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:19239860-21530183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054010]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054010]|See cases [RCV000054010] Chr17:19239860..21530183 [GRCh38]
Chr17:19143173..21433444 [GRCh37]
Chr17:19083766..21374037 [NCBI36]
Chr17:17p11.2		 uncertain significance
GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1 copy number loss See cases [RCV000054357] Chr17:16858444..20465067 [GRCh38]
Chr17:16761758..20368380 [GRCh37]
Chr17:16702483..20308972 [NCBI36]
Chr17:17p11.2		 pathogenic
NM_018242.2(SLC47A1):c.777C>T (p.Phe259=) single nucleotide variant Malignant melanoma [RCV000071367] Chr17:19555833 [GRCh38]
Chr17:19459146 [GRCh37]
Chr17:19399738 [NCBI36]
Chr17:17p11.2		 not provided
NM_018242.2(SLC47A1):c.936C>T (p.Phe312=) single nucleotide variant Malignant melanoma [RCV000071368] Chr17:19560202 [GRCh38]
Chr17:19463515 [GRCh37]
Chr17:19404107 [NCBI36]
Chr17:17p11.2		 not provided
NM_018242.2(SLC47A1):c.1107-1109C>T single nucleotide variant Lung cancer [RCV000100378] Chr17:19565681 [GRCh38]
Chr17:19468994 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh38/hg38 17p11.2(chr17:18872617-20316151)x1 copy number loss See cases [RCV000133724] Chr17:18872617..20316151 [GRCh38]
Chr17:18775930..20219464 [GRCh37]
Chr17:18716655..20160056 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3 copy number gain See cases [RCV000133695] Chr17:16879232..20316151 [GRCh38]
Chr17:16782546..20219464 [GRCh37]
Chr17:16723271..20160056 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3 copy number gain See cases [RCV000134467] Chr17:16854250..20492169 [GRCh38]
Chr17:16757564..20395482 [GRCh37]
Chr17:16698289..20336074 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1 copy number loss See cases [RCV000135874] Chr17:17331511..20022528 [GRCh38]
Chr17:17234825..19925841 [GRCh37]
Chr17:17175550..19866433 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1 copy number loss See cases [RCV000135996] Chr17:16879233..20390697 [GRCh38]
Chr17:16782547..20294010 [GRCh37]
Chr17:16723272..20234602 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3 copy number gain See cases [RCV000135997] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1 copy number loss See cases [RCV000135998] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1 copy number loss See cases [RCV000136906] Chr17:16734588..20390725 [GRCh38]
Chr17:16637902..20294038 [GRCh37]
Chr17:16578627..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1 copy number loss See cases [RCV000136951] Chr17:16734588..20316151 [GRCh38]
Chr17:16637902..20219464 [GRCh37]
Chr17:16578627..20160056 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:18859289-20316151)x1 copy number loss See cases [RCV000137991] Chr17:18859289..20316151 [GRCh38]
Chr17:18762602..20219464 [GRCh37]
Chr17:18703327..20160056 [NCBI36]
Chr17:17p11.2		 likely pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1 copy number loss See cases [RCV000137974] Chr17:16699816..20390725 [GRCh38]
Chr17:16603130..20294038 [GRCh37]
Chr17:16543855..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic|likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3 copy number gain See cases [RCV000138255] Chr17:16854250..20492214 [GRCh38]
Chr17:16757564..20395527 [GRCh37]
Chr17:16698289..20336119 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1 copy number loss See cases [RCV000139239] Chr17:16989087..20370816 [GRCh38]
Chr17:16892401..20274129 [GRCh37]
Chr17:16833126..20214721 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3 copy number gain See cases [RCV000139188] Chr17:16854250..20560048 [GRCh38]
Chr17:16757564..20463361 [GRCh37]
Chr17:16698289..20403953 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3 copy number gain See cases [RCV000140217] Chr17:16699694..20530646 [GRCh38]
Chr17:16603008..20433959 [GRCh37]
Chr17:16543733..20374551 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 copy number loss See cases [RCV000139510] Chr17:15883037..20620700 [GRCh38]
Chr17:15786351..20524013 [GRCh37]
Chr17:15727076..20464605 [NCBI36]
Chr17:17p12-11.2		 pathogenic|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1 copy number loss See cases [RCV000139558] Chr17:16656162..20390697 [GRCh38]
Chr17:16559476..20294010 [GRCh37]
Chr17:16500201..20234602 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1 copy number loss See cases [RCV000141105] Chr17:17018951..20148630 [GRCh38]
Chr17:16922265..20051943 [GRCh37]
Chr17:16862990..19992535 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3 copy number gain See cases [RCV000140852] Chr17:16699816..20492214 [GRCh38]
Chr17:16603130..20395527 [GRCh37]
Chr17:16543855..20336119 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1 copy number loss See cases [RCV000141975] Chr17:16838097..20436415 [GRCh38]
Chr17:16741411..20339728 [GRCh37]
Chr17:16682136..20280320 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:19533508-19751472)x1 copy number loss See cases [RCV000141707] Chr17:19533508..19751472 [GRCh38]
Chr17:19436821..19654785 [GRCh37]
Chr17:19377413..19595377 [NCBI36]
Chr17:17p11.2		 likely benign
GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3 copy number gain See cases [RCV000142075] Chr17:16858500..20570955 [GRCh38]
Chr17:16761814..20474268 [GRCh37]
Chr17:16702539..20414860 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3 copy number gain See cases [RCV000143381] Chr17:16696708..20492860 [GRCh38]
Chr17:16600022..20396173 [GRCh37]
Chr17:16540747..20336765 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3 copy number gain See cases [RCV000143417] Chr17:16718415..20546210 [GRCh38]
Chr17:16621729..20449523 [GRCh37]
Chr17:16562454..20390115 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1 copy number loss See cases [RCV000143181] Chr17:16699816..20428292 [GRCh38]
Chr17:16603130..20331605 [GRCh37]
Chr17:16543855..20272197 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1 copy number loss See cases [RCV000143210] Chr17:16858500..20559337 [GRCh38]
Chr17:16761814..20462650 [GRCh37]
Chr17:16702539..20403242 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 copy number loss See cases [RCV000143177] Chr17:15883037..20658018 [GRCh38]
Chr17:15786351..20561331 [GRCh37]
Chr17:15727076..20501923 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3 copy number gain See cases [RCV000143715] Chr17:16426633..20998588 [GRCh38]
Chr17:16329947..20901901 [GRCh37]
Chr17:16270672..20842493 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 copy number loss See cases [RCV000143650] Chr17:15850859..20649235 [GRCh38]
Chr17:15754173..20552548 [GRCh37]
Chr17:15694898..20493140 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1 copy number loss See cases [RCV000143596] Chr17:16853120..20436482 [GRCh38]
Chr17:16756434..20339795 [GRCh37]
Chr17:16697159..20280387 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 copy number loss See cases [RCV000143485] Chr17:15729893..20510251 [GRCh38]
Chr17:15633207..20413564 [GRCh37]
Chr17:15573932..20354156 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1 copy number loss See cases [RCV000449069] Chr17:16603130..20261191 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3 copy number gain See cases [RCV000240104] Chr17:15767020..20261250 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1 copy number loss See cases [RCV000239910] Chr17:17053390..19893098 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1 copy number loss See cases [RCV000240274] Chr17:16654302..20261250 [GRCh37]
Chr17:17p11.2		 pathogenic
arr[hg19]17p11.2(16,757,111-20,219,651)x3 duplication Potocki-Lupski syndrome [RCV000591005] Chr17:16757111..20219651 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3 copy number gain See cases [RCV000449384] Chr17:16740141..20261191 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 copy number loss See cases [RCV000447345] Chr17:10771948..21510992 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1 copy number loss See cases [RCV000446498] Chr17:15745315..20261191 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20304295)x1 copy number loss See cases [RCV000446300] Chr17:16761814..20304295 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1 copy number loss See cases [RCV000446465] Chr17:16637902..20261250 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741771-20430791)x3 copy number gain See cases [RCV000445753] Chr17:16741771..20430791 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1 copy number loss See cases [RCV000448145] Chr17:16757564..20261191 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20304154)x1 copy number loss See cases [RCV000448636] Chr17:16741411..20304154 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:19417785-19579313) copy number loss Abnormal esophagus morphology [RCV000416761] Chr17:19417785..19579313 [GRCh37]
Chr17:17p11.2		 likely benign
GRCh37/hg19 17p11.2(chr17:16741411-20449523)x1 copy number loss See cases [RCV000448404] Chr17:16741411..20449523 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20408379)x1 copy number loss See cases [RCV000447955] Chr17:16741411..20408379 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20462723)x1 copy number loss See cases [RCV000448752] Chr17:16761814..20462723 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20433502)x3 copy number gain See cases [RCV000448097] Chr17:16772264..20433502 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1 copy number loss See cases [RCV000510506] Chr17:16745600..20396173 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1 copy number loss See cases [RCV000510254] Chr17:17200426..21900910 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3 copy number gain See cases [RCV000510267] Chr17:16761814..20339795 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1 copy number loss See cases [RCV000511412] Chr17:16727264..20413564 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1 copy number loss See cases [RCV000511915] Chr17:16772264..20297091 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1 copy number loss See cases [RCV000511460] Chr17:16741411..20410218 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3 copy number gain See cases [RCV000511433] Chr17:16738161..20338182 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3 copy number gain See cases [RCV000511042] Chr17:16651292..20437532 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:19144143-20231379)x1 copy number loss See cases [RCV000510808] Chr17:19144143..20231379 [GRCh37]
Chr17:17p11.2		 likely pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1 copy number loss See cases [RCV000511111] Chr17:16727264..20395889 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_018242.3(SLC47A1):c.872A>T (p.Glu291Val) single nucleotide variant not specified [RCV004300606] Chr17:19556013 [GRCh38]
Chr17:19459326 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16842163-20217777) copy number gain Delayed speech and language development [RCV000626511] Chr17:16842163..20217777 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16782546-20294038) copy number loss Sleep abnormality [RCV000626510] Chr17:16782546..20294038 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_018242.3(SLC47A1):c.340G>A (p.Val114Met) single nucleotide variant not specified [RCV004285850] Chr17:19548018 [GRCh38]
Chr17:19451331 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3 copy number gain See cases [RCV000512356] Chr17:16591260..20473937 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1 copy number loss See cases [RCV000512446] Chr17:16741411..20489023 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3 copy number gain See cases [RCV000512434] Chr17:19144143..20231379 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1 copy number loss not provided [RCV000683901] Chr17:16999980..20298979 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:18743223-20246715)x3 copy number gain not provided [RCV000683907] Chr17:18743223..20246715 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1 copy number loss not provided [RCV000683897] Chr17:16727264..20310241 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3 copy number gain not provided [RCV000683900] Chr17:16761814..20292897 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1 copy number loss not provided [RCV000683898] Chr17:16741411..20430791 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1 copy number loss not provided [RCV000683902] Chr17:17021607..20015978 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p11.2(chr17:16768248-20391959)x1 copy number loss not provided [RCV000739423] Chr17:16768248..20391959 [GRCh37]
Chr17:17p11.2		 pathogenic
Single allele duplication Autism [RCV000754201] Chr17:16770855..20422847 [GRCh38]
Chr17:17p11.2		 pathogenic
NC_000017.11:g.(?_16770855)_(20585863_?)del deletion Autism [RCV000754202] Chr17:16770855..20585863 [GRCh38]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16660721-20417975)x1 copy number loss not provided [RCV000739417] Chr17:16660721..20417975 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_018242.3(SLC47A1):c.621T>C (p.His207=) single nucleotide variant not provided [RCV000897281] Chr17:19555289 [GRCh38]
Chr17:19458602 [GRCh37]
Chr17:17p11.2		 likely benign
GRCh37/hg19 17p12-11.2(chr17:15796140-20331131)x3 copy number gain not provided [RCV000751941] Chr17:15796140..20331131 [GRCh37]
Chr17:17p12-11.2		 pathogenic
NM_018242.3(SLC47A1):c.1490G>T (p.Cys497Phe) single nucleotide variant not provided [RCV000966410] Chr17:19577330 [GRCh38]
Chr17:19480643 [GRCh37]
Chr17:17p11.2		 benign
NM_018242.3(SLC47A1):c.765C>T (p.Asp255=) single nucleotide variant not provided [RCV000901444] Chr17:19555821 [GRCh38]
Chr17:19459134 [GRCh37]
Chr17:17p11.2		 benign
NM_018242.3(SLC47A1):c.270C>T (p.Phe90=) single nucleotide variant not provided [RCV000966409] Chr17:19546467 [GRCh38]
Chr17:19449780 [GRCh37]
Chr17:17p11.2		 benign
NM_018242.3(SLC47A1):c.1081G>A (p.Val361Met) single nucleotide variant not specified [RCV004293442] Chr17:19560468 [GRCh38]
Chr17:19463781 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16842991-20217316) copy number loss Smith-Magenis syndrome [RCV000767738] Chr17:16842991..20217316 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3 copy number gain not provided [RCV000848946] Chr17:19144143..20231379 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.1280T>G (p.Leu427Arg) single nucleotide variant not specified [RCV004306230] Chr17:19567199 [GRCh38]
Chr17:19470512 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:19356083-19917814)x3 copy number gain not provided [RCV001006882] Chr17:19356083..19917814 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1 copy number loss not provided [RCV001259291] Chr17:16763370..20395611 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:18746987-20231379)x1 copy number loss not provided [RCV001259295] Chr17:18746987..20231379 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16651292-20286898) copy number loss Smith-Magenis syndrome [RCV002280651] Chr17:16651292..20286898 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17151140-20187953) copy number loss Smith-Magenis syndrome [RCV002280652] Chr17:17151140..20187953 [GRCh37]
Chr17:17p11.2		 pathogenic
Single allele complex PMP22-RAI1 contiguous gene duplication syndrome [RCV002280690] Chr17:14876984..22124952 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3 copy number gain not provided [RCV001259290] Chr17:16761814..20330062 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17145361-20137943) copy number loss Smith-Magenis syndrome [RCV001352632] Chr17:17145361..20137943 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16601603-20063369) copy number gain Potocki-Lupski syndrome [RCV001352635] Chr17:16601603..20063369 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3 copy number gain Potocki-Lupski syndrome [RCV001801179] Chr17:16829153..20361747 [GRCh37]
Chr17:17p11.2		 pathogenic
NC_000017.10:g.(?_16842861)_(19578885_?)del deletion Immunodeficiency, common variable, 2 [RCV002049406]|Joubert syndrome [RCV002047402] Chr17:16842861..19578885 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1 copy number loss not provided [RCV002211424] Chr17:16664739..20217378 [GRCh37]
Chr17:17p11.2		 pathogenic
NC_000017.10:g.(?_19246632)_(19578885_?)dup duplication not provided [RCV003111130] Chr17:19246632..19578885 [GRCh37]
Chr17:17p11.2		 uncertain significance
NC_000017.10:g.(?_16842861)_(19578885_?)dup duplication Familial aplasia of the vermis [RCV003116613]|Immunodeficiency, common variable, 2 [RCV003116614] Chr17:16842861..19578885 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3 copy number gain See cases [RCV002292216] Chr17:16736709..20339460 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16664739-20370783) copy number gain Potocki-Lupski syndrome [RCV003236713] Chr17:16664739..20370783 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_018242.3(SLC47A1):c.1640G>C (p.Gly547Ala) single nucleotide variant not specified [RCV004316983] Chr17:19577480 [GRCh38]
Chr17:19480793 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:19423469-19588176)x1 copy number loss not provided [RCV002474946] Chr17:19423469..19588176 [GRCh37]
Chr17:17p11.2		 uncertain significance
NC_000017.11:g.(?_18856298)_(20402192_?)del deletion Meckel syndrome, type 9 [RCV000024099] Chr17:18856298..20402192 [GRCh38]
Chr17:17p11.2		 pathogenic
NM_018242.3(SLC47A1):c.955C>T (p.Arg319Trp) single nucleotide variant not specified [RCV004201971] Chr17:19560221 [GRCh38]
Chr17:19463534 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.934T>G (p.Phe312Val) single nucleotide variant not specified [RCV004128521] Chr17:19560200 [GRCh38]
Chr17:19463513 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.585C>A (p.Asn195Lys) single nucleotide variant not specified [RCV004111051] Chr17:19555253 [GRCh38]
Chr17:19458566 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.71G>T (p.Arg24Leu) single nucleotide variant not specified [RCV004152811] Chr17:19534010 [GRCh38]
Chr17:19437323 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.997C>T (p.Arg333Trp) single nucleotide variant not specified [RCV004190288] Chr17:19560263 [GRCh38]
Chr17:19463576 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.1658T>A (p.Val553Asp) single nucleotide variant not specified [RCV004118189] Chr17:19577498 [GRCh38]
Chr17:19480811 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.97G>A (p.Glu33Lys) single nucleotide variant not specified [RCV004244471] Chr17:19534036 [GRCh38]
Chr17:19437349 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.359C>T (p.Ala120Val) single nucleotide variant not specified [RCV004095338] Chr17:19548037 [GRCh38]
Chr17:19451350 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.919A>G (p.Met307Val) single nucleotide variant not specified [RCV004214861] Chr17:19556060 [GRCh38]
Chr17:19459373 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.806T>C (p.Met269Thr) single nucleotide variant not specified [RCV004231387] Chr17:19555862 [GRCh38]
Chr17:19459175 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.1655G>A (p.Gly552Glu) single nucleotide variant not specified [RCV004196401] Chr17:19577495 [GRCh38]
Chr17:19480808 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.854G>T (p.Gly285Val) single nucleotide variant not specified [RCV004149318] Chr17:19555995 [GRCh38]
Chr17:19459308 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.989A>T (p.Glu330Val) single nucleotide variant not specified [RCV004212209] Chr17:19560255 [GRCh38]
Chr17:19463568 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.662T>C (p.Leu221Ser) single nucleotide variant not specified [RCV004089779] Chr17:19555613 [GRCh38]
Chr17:19458926 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.1462C>T (p.Leu488Phe) single nucleotide variant not specified [RCV004192156] Chr17:19572837 [GRCh38]
Chr17:19476150 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.557C>T (p.Pro186Leu) single nucleotide variant not specified [RCV004173151] Chr17:19555225 [GRCh38]
Chr17:19458538 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.889A>G (p.Ile297Val) single nucleotide variant not specified [RCV004273638] Chr17:19556030 [GRCh38]
Chr17:19459343 [GRCh37]
Chr17:17p11.2		 likely benign
GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1 copy number loss not provided [RCV003222939] Chr17:17116969..20217378 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_018242.3(SLC47A1):c.1634G>A (p.Arg545Gln) single nucleotide variant not specified [RCV004257111] Chr17:19577474 [GRCh38]
Chr17:19480787 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.1517C>T (p.Thr506Met) single nucleotide variant not specified [RCV004252121] Chr17:19577357 [GRCh38]
Chr17:19480670 [GRCh37]
Chr17:17p11.2		 likely benign
NM_018242.3(SLC47A1):c.827C>T (p.Ala276Val) single nucleotide variant not specified [RCV004253020] Chr17:19555883 [GRCh38]
Chr17:19459196 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.1633C>T (p.Arg545Trp) single nucleotide variant not specified [RCV004347087] Chr17:19577473 [GRCh38]
Chr17:19480786 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.1255G>T (p.Val419Phe) single nucleotide variant not specified [RCV004343333] Chr17:19567174 [GRCh38]
Chr17:19470487 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1 copy number loss not provided [RCV003483315] Chr17:16651293..20450566 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3 copy number gain not provided [RCV003485147] Chr17:18614422..22227823 [GRCh37]
Chr17:17p11.2-11.1		 uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1 copy number loss not provided [RCV003483314] Chr17:15694772..20582794 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1 copy number loss not specified [RCV003987246] Chr17:15759103..20564268 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_018242.3(SLC47A1):c.877G>A (p.Gly293Ser) single nucleotide variant not specified [RCV004461821] Chr17:19556018 [GRCh38]
Chr17:19459331 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.271G>A (p.Gly91Ser) single nucleotide variant not specified [RCV004461818] Chr17:19546468 [GRCh38]
Chr17:19449781 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.370C>T (p.Leu124Phe) single nucleotide variant not specified [RCV004461819] Chr17:19548048 [GRCh38]
Chr17:19451361 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.452C>T (p.Ser151Phe) single nucleotide variant not specified [RCV004461820] Chr17:19548130 [GRCh38]
Chr17:19451443 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.62G>A (p.Arg21His) single nucleotide variant not specified [RCV004674793] Chr17:19534001 [GRCh38]
Chr17:19437314 [GRCh37]
Chr17:17p11.2		 likely benign
NM_018242.3(SLC47A1):c.1276G>A (p.Ala426Thr) single nucleotide variant not specified [RCV004862263] Chr17:19567195 [GRCh38]
Chr17:19470508 [GRCh37]
Chr17:17p11.2		 likely benign
NM_018242.3(SLC47A1):c.593A>G (p.Asn198Ser) single nucleotide variant not specified [RCV004862265] Chr17:19555261 [GRCh38]
Chr17:19458574 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.125C>T (p.Ala42Val) single nucleotide variant not specified [RCV004862261] Chr17:19534064 [GRCh38]
Chr17:19437377 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.1450G>A (p.Gly484Arg) single nucleotide variant not specified [RCV004862264] Chr17:19572825 [GRCh38]
Chr17:19476138 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.620A>G (p.His207Arg) single nucleotide variant not specified [RCV004862262] Chr17:19555288 [GRCh38]
Chr17:19458601 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:19157572-19587022)x3 copy number gain not provided [RCV004819630] Chr17:19157572..19587022 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.1313T>C (p.Leu438Pro) single nucleotide variant not specified [RCV004870647] Chr17:19571481 [GRCh38]
Chr17:19474794 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.892G>A (p.Val298Met) single nucleotide variant not specified [RCV004870643] Chr17:19556033 [GRCh38]
Chr17:19459346 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.1441C>G (p.Pro481Ala) single nucleotide variant not specified [RCV004870644] Chr17:19572816 [GRCh38]
Chr17:19476129 [GRCh37]
Chr17:17p11.2		 likely benign
NM_018242.3(SLC47A1):c.881C>T (p.Ala294Val) single nucleotide variant not specified [RCV004870645] Chr17:19556022 [GRCh38]
Chr17:19459335 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_018242.3(SLC47A1):c.239T>C (p.Val80Ala) single nucleotide variant not specified [RCV004870646] Chr17:19546436 [GRCh38]
Chr17:19449749 [GRCh37]
Chr17:17p11.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3609
Count of miRNA genes:1099
Interacting mature miRNAs:1360
Transcripts:ENST00000270570, ENST00000395585, ENST00000436810, ENST00000457293, ENST00000495425, ENST00000497548, ENST00000542886, ENST00000571335, ENST00000573009, ENST00000574596, ENST00000575023, ENST00000575362, ENST00000575377, ENST00000576095, ENST00000581558, ENST00000584348
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
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
597324121GWAS1420195_HN-acetylarginine measurement QTL GWAS1420195 (human)1e-14N-acetylarginine measurement171957156219571563Human
407225825GWAS874801_Hlymphocyte count QTL GWAS874801 (human)3e-18lymphocyte countblood lymphocyte count (CMO:0000031)171953722519537226Human
597320863GWAS1416937_Hmetabolite measurement QTL GWAS1416937 (human)2e-25metabolite measurement171953872319538724Human
597183613GWAS1279687_HN-acetylarginine measurement QTL GWAS1279687 (human)1e-11N-acetylarginine measurement171953872319538724Human
597425948GWAS1522022_Hurate measurement QTL GWAS1522022 (human)4e-11urate measurementblood uric acid level (CMO:0000501)171953722519537226Human
597270193GWAS1366267_Hmetabolite measurement QTL GWAS1366267 (human)4e-23metabolite measurement171956027819560279Human
597140669GWAS1236743_HN,N,N-trimethyl-5-aminovalerate measurement QTL GWAS1236743 (human)7e-15N,N,N-trimethyl-5-aminovalerate measurement171957156219571563Human
406940716GWAS589692_Hbrain aneurysm QTL GWAS589692 (human)1e-08brain aneurysm171954167419541675Human
596960345GWAS1079864_Hglomerular filtration rate QTL GWAS1079864 (human)3e-41glomerular filtration rate171957156219571563Human
597415444GWAS1511518_Hurate measurement QTL GWAS1511518 (human)7e-10urate measurementblood uric acid level (CMO:0000501)171953500819535009Human
597295083GWAS1391157_Hcarnitine measurement QTL GWAS1391157 (human)2e-10blood carnitine amount (VT:0003977)171957156219571563Human
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
597320908GWAS1416982_Hmetabolite measurement QTL GWAS1416982 (human)6e-32metabolite measurement171957156219571563Human
597321549GWAS1417623_HX-12798 measurement QTL GWAS1417623 (human)6e-20X-12798 measurement171955126219551263Human
597501669GWAS1597743_HN-acetyl-isoputreanine measurement QTL GWAS1597743 (human)5e-14N-acetyl-isoputreanine measurement171953500819535009Human
597270688GWAS1366762_Hmetabolite measurement QTL GWAS1366762 (human)4e-15metabolite measurement171953872319538724Human
597127500GWAS1223574_Hurate measurement QTL GWAS1223574 (human)1e-08urate measurementblood uric acid level (CMO:0000501)171953722519537226Human
596959528GWAS1079047_Hglomerular filtration rate QTL GWAS1079047 (human)1e-103glomerular filtration rate171957156219571563Human
597477091GWAS1573165_Hurate measurement QTL GWAS1573165 (human)3e-10urate measurementblood uric acid level (CMO:0000501)171953500819535009Human

Markers in Region
STS-W85883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371719,481,924 - 19,482,056UniSTSGRCh37
Build 361719,422,516 - 19,422,648RGDNCBI36
Celera1716,894,827 - 16,894,959RGD
Cytogenetic Map17p11.2UniSTS
HuRef1718,861,164 - 18,861,296UniSTS
GeneMap99-GB4 RH Map17119.07UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2423 2788 2247 4973 1726 2348 6 624 1835 465 2270 7180 6358 52 3733 1 845 1742 1614 174 1

Sequence


Ensembl Acc Id: ENST00000270570   ⟹   ENSP00000270570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1719,533,854 - 19,579,034 (+)Ensembl
Ensembl Acc Id: ENST00000395585   ⟹   ENSP00000378951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1719,533,880 - 19,578,906 (+)Ensembl
Ensembl Acc Id: ENST00000436810   ⟹   ENSP00000407155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1719,533,828 - 19,577,611 (+)Ensembl
Ensembl Acc Id: ENST00000495425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1719,555,509 - 19,577,640 (+)Ensembl
Ensembl Acc Id: ENST00000497548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1719,533,878 - 19,578,906 (+)Ensembl
Ensembl Acc Id: ENST00000571335   ⟹   ENSP00000462630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1719,533,462 - 19,577,597 (+)Ensembl
Ensembl Acc Id: ENST00000573009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1719,555,832 - 19,577,829 (+)Ensembl
Ensembl Acc Id: ENST00000574596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1719,533,860 - 19,535,614 (+)Ensembl
Ensembl Acc Id: ENST00000575023   ⟹   ENSP00000460164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1719,533,876 - 19,578,906 (+)Ensembl
Ensembl Acc Id: ENST00000575362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1719,567,139 - 19,568,084 (+)Ensembl
Ensembl Acc Id: ENST00000575377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1719,555,573 - 19,577,937 (+)Ensembl
Ensembl Acc Id: ENST00000576095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1719,533,876 - 19,548,104 (+)Ensembl
Ensembl Acc Id: ENST00000581558   ⟹   ENSP00000462225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1719,572,797 - 19,578,904 (+)Ensembl
Ensembl Acc Id: ENST00000584348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1719,495,385 - 19,555,309 (+)Ensembl
RefSeq Acc Id: NM_018242   ⟹   NP_060712
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381719,533,854 - 19,579,034 (+)NCBI
GRCh371719,437,167 - 19,482,346 (+)ENTREZGENE
GRCh371719,437,167 - 19,482,346 (+)NCBI
Build 361719,377,759 - 19,422,938 (+)NCBI Archive
HuRef1718,816,528 - 18,861,586 (+)ENTREZGENE
CHM1_11719,446,156 - 19,491,334 (+)NCBI
T2T-CHM13v2.01719,482,011 - 19,527,180 (+)NCBI
Sequence:
RefSeq Acc Id: NP_060712   ⟸   NM_018242
- UniProtKB: Q86VL4 (UniProtKB/Swiss-Prot),   Q6PD77 (UniProtKB/Swiss-Prot),   Q53HF5 (UniProtKB/Swiss-Prot),   Q9NVA3 (UniProtKB/Swiss-Prot),   Q96FL8 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000462225   ⟸   ENST00000581558
Ensembl Acc Id: ENSP00000462630   ⟸   ENST00000571335
Ensembl Acc Id: ENSP00000270570   ⟸   ENST00000270570
Ensembl Acc Id: ENSP00000460164   ⟸   ENST00000575023
Ensembl Acc Id: ENSP00000378951   ⟸   ENST00000395585
Ensembl Acc Id: ENSP00000407155   ⟸   ENST00000436810

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96FL8-F1-model_v2 AlphaFold Q96FL8 1-570 view protein structure

Promoters
RGD ID:6793685
Promoter ID:HG_KWN:25368
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000132250,   OTTHUMT00000132252,   UC002GVX.2,   UC010CQP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361719,377,551 - 19,378,051 (+)MPROMDB
RGD ID:7234275
Promoter ID:EPDNEW_H22882
Type:initiation region
Name:SLC47A1_1
Description:solute carrier family 47 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22881  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381719,533,867 - 19,533,927EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25588 AgrOrtholog
COSMIC SLC47A1 COSMIC
Ensembl Genes ENSG00000142494 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000270570 ENTREZGENE
  ENST00000270570.8 UniProtKB/Swiss-Prot
  ENST00000395585.5 UniProtKB/Swiss-Prot
GTEx ENSG00000142494 GTEx
HGNC ID HGNC:25588 ENTREZGENE
Human Proteome Map SLC47A1 Human Proteome Map
InterPro MATE_euk UniProtKB/Swiss-Prot
  MATE_fam UniProtKB/Swiss-Prot
KEGG Report hsa:55244 UniProtKB/Swiss-Prot
NCBI Gene 55244 ENTREZGENE
OMIM 609832 OMIM
PANTHER MULTIDRUG RESISTANCE PROTEIN UniProtKB/Swiss-Prot
Pfam MatE UniProtKB/Swiss-Prot
PharmGKB PA162403808 PharmGKB, RGD
UniProt E7EX57_HUMAN UniProtKB/TrEMBL
  I3L345_HUMAN UniProtKB/TrEMBL
  J3KRZ3_HUMAN UniProtKB/TrEMBL
  J3KSS8_HUMAN UniProtKB/TrEMBL
  Q53HF5 ENTREZGENE
  Q6PD77 ENTREZGENE
  Q86VL4 ENTREZGENE
  Q96FL8 ENTREZGENE
  Q9NVA3 ENTREZGENE
  S47A1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q53HF5 UniProtKB/Swiss-Prot
  Q6PD77 UniProtKB/Swiss-Prot
  Q86VL4 UniProtKB/Swiss-Prot
  Q9NVA3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC47A1  solute carrier family 47 member 1  SLC47A1  solute carrier family 47 (multidrug and toxin extrusion), member 1  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC47A1  solute carrier family 47 (multidrug and toxin extrusion), member 1  SLC47A1  solute carrier family 47, member 1  Symbol and/or name change 5135510 APPROVED