SLC39A8 (solute carrier family 39 member 8) - Rat Genome Database

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Gene: SLC39A8 (solute carrier family 39 member 8) Homo sapiens
Analyze
Symbol: SLC39A8
Name: solute carrier family 39 member 8
RGD ID: 1317894
HGNC Page HGNC:20862
Description: Enables monoatomic cation:bicarbonate symporter activity. Involved in several processes, including cellular detoxification of cadmium ion; monoatomic cation transmembrane transport; and plasma membrane selenite transport. Acts upstream of with a negative effect on negative regulation of canonical NF-kappaB signal transduction and negative regulation of inflammatory response. Located in apical plasma membrane; basolateral plasma membrane; and lysosomal membrane. Implicated in congenital disorder of glycosylation type IIn.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BCG induced integral membrane protein BIGM103; BCG-induced integral membrane protein in monocyte clone 103 protein; BIGM103; CDG2N; LIV-1 subfamily of ZIP zinc transporter 6; LZT-Hs6; metal cation symporter ZIP8; PP3105; solute carrier family 39 (metal ion transporter), member 8; solute carrier family 39 (zinc transporter), member 8; Zinc transporter 8; zinc transporter ZIP8; ZIP-8; ZIP8; Zrt- and Irt-like protein 8; ZRT/IRT-like protein 8
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
GRCh384102,251,041 - 102,345,482 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4102,251,080 - 102,431,258 (-)EnsemblGRCh38hg38GRCh38
GRCh374103,172,198 - 103,266,639 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364103,401,844 - 103,485,371 (-)NCBINCBI36Build 36hg18NCBI36
Build 344103,539,998 - 103,623,526NCBI
Celera4100,470,678 - 100,565,146 (-)NCBICelera
Cytogenetic Map4q24NCBI
HuRef498,909,550 - 99,003,934 (-)NCBIHuRef
CHM1_14103,148,714 - 103,243,025 (-)NCBICHM1_1
T2T-CHM13v2.04105,565,252 - 105,659,701 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
amitrole  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
Azoxymethane  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzoates  (EXP)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (EXP)
calcitriol  (EXP)
carbon nanotube  (EXP,ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt atom  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diethylstilbestrol  (ISO)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
flutamide  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glafenine  (ISO)
hydrogencarbonate  (ISO)
indometacin  (ISO)
iron atom  (EXP,ISO)
iron(0)  (EXP,ISO)
isotretinoin  (EXP)
L-ethionine  (ISO)
lead diacetate  (EXP,ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (ISO)
mercury atom  (ISO)
mercury dibromide  (EXP)
mercury(0)  (ISO)
methapyrilene  (ISO)
methotrexate  (ISO)
methylmercury chloride  (EXP)
N-methylformamide  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP,ISO)
nimesulide  (ISO)
nitrofen  (ISO)
omeprazole  (ISO)
panobinostat  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium cyanide  (ISO)
progesterone  (EXP)
propanal  (EXP)
quercitrin  (EXP)
resveratrol  (EXP)
rimonabant  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium hydrogencarbonate  (ISO)
Soman  (ISO)
sunitinib  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vorinostat  (EXP)
zinc atom  (EXP,ISO)
zinc dichloride  (ISO)
zinc(0)  (EXP,ISO)
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
Abnormal blood zinc concentration  (IAGP)
Abnormality of the liver  (IAGP)
Astigmatism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Congenital onset  (IAGP)
Craniosynostosis  (IAGP)
Cutaneous syndactyly of toes  (IAGP)
Decreased activity of mitochondrial complex II  (IAGP)
Decreased activity of mitochondrial complex IV  (IAGP)
Decreased activity of the pyruvate dehydrogenase complex  (IAGP)
Decreased mitochondrial complex III activity in liver tissue  (IAGP)
Delayed ability to sit  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Dystonia  (IAGP)
Elbow flexion contracture  (IAGP)
Elevated brain lactate level by MRS  (IAGP)
Failure to thrive in infancy  (IAGP)
Flat face  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hypermetropia  (IAGP)
Hyperreflexia  (IAGP)
Hypomanganesemia  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Inability to walk  (IAGP)
Increased CSF lactate  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Joint hypermobility  (IAGP)
Knee flexion contracture  (IAGP)
Limb undergrowth  (IAGP)
Low-set ears  (IAGP)
Nystagmus  (IAGP)
Osteopenia  (IAGP)
Poor head control  (IAGP)
Poor speech  (IAGP)
Profound global developmental delay  (IAGP)
Recurrent infections  (IAGP)
Seizure  (IAGP)
Severe muscular hypotonia  (IAGP)
Short stature  (IAGP)
Strabismus  (IAGP)
Sudden episodic apnea  (IAGP)
Type II transferrin isoform profile  (IAGP)
Ventriculomegaly  (IAGP)
Visual fixation instability  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Regulators of Iron Homeostasis: New Players in Metabolism, Cell Death, and Disease. Bogdan AR, etal., Trends Biochem Sci. 2016 Mar;41(3):274-86. doi: 10.1016/j.tibs.2015.11.012. Epub 2015 Dec 23.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Cellular iron uptake, trafficking and metabolism: Key molecules and mechanisms and their roles in disease. Lane DJ, etal., Biochim Biophys Acta. 2015 May;1853(5):1130-44. doi: 10.1016/j.bbamcr.2015.01.021. Epub 2015 Feb 4.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12504855   PMID:12659941   PMID:12839489   PMID:14702039   PMID:16083285   PMID:18270315   PMID:18390834   PMID:18556457   PMID:19064571   PMID:19401385   PMID:20686565  
PMID:20864672   PMID:20935630   PMID:21873635   PMID:21909110   PMID:21909115   PMID:22078303   PMID:22898811   PMID:23403290   PMID:23688035   PMID:23921484   PMID:24097068   PMID:24514587  
PMID:25056061   PMID:26006263   PMID:26025379   PMID:26637978   PMID:26908625   PMID:27166256   PMID:27466201   PMID:27492617   PMID:27995398   PMID:28298427   PMID:28481222   PMID:28514442  
PMID:28917719   PMID:29117863   PMID:29120360   PMID:29333637   PMID:29337306   PMID:29453449   PMID:29749445   PMID:30301978   PMID:30649180   PMID:30703110   PMID:31151823   PMID:31261654  
PMID:31513097   PMID:31521203   PMID:31533672   PMID:31699897   PMID:32247823   PMID:32392784   PMID:32694731   PMID:32753748   PMID:32788640   PMID:32852845   PMID:32897876   PMID:33139556  
PMID:33608496   PMID:33795795   PMID:33961781   PMID:34198528   PMID:34672770   PMID:34768831   PMID:34924116   PMID:35271311   PMID:35636252   PMID:35642632   PMID:35787370   PMID:37023243  
PMID:37616343   PMID:38103342   PMID:38309537   PMID:38687342  


Genomics

Comparative Map Data
SLC39A8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384102,251,041 - 102,345,482 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4102,251,080 - 102,431,258 (-)EnsemblGRCh38hg38GRCh38
GRCh374103,172,198 - 103,266,639 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364103,401,844 - 103,485,371 (-)NCBINCBI36Build 36hg18NCBI36
Build 344103,539,998 - 103,623,526NCBI
Celera4100,470,678 - 100,565,146 (-)NCBICelera
Cytogenetic Map4q24NCBI
HuRef498,909,550 - 99,003,934 (-)NCBIHuRef
CHM1_14103,148,714 - 103,243,025 (-)NCBICHM1_1
T2T-CHM13v2.04105,565,252 - 105,659,701 (-)NCBIT2T-CHM13v2.0
Slc39a8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393135,522,644 - 135,594,333 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3135,531,040 - 135,594,333 (+)EnsemblGRCm39 Ensembl
GRCm383135,816,882 - 135,888,572 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3135,825,279 - 135,888,572 (+)EnsemblGRCm38mm10GRCm38
MGSCv373135,488,455 - 135,551,536 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363135,763,475 - 135,825,778 (+)NCBIMGSCv36mm8
Celera3142,245,991 - 142,312,950 (+)NCBICelera
Cytogenetic Map3G3NCBI
cM Map363.04NCBI
Slc39a8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82226,845,686 - 226,992,668 (+)NCBIGRCr8
mRatBN7.22224,171,787 - 224,319,326 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2224,256,654 - 224,319,129 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2231,982,580 - 232,044,754 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02229,882,319 - 229,944,486 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02224,746,913 - 224,809,087 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02241,028,851 - 241,092,584 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2241,029,693 - 241,092,582 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02259,584,747 - 259,648,098 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42233,340,397 - 233,403,461 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12233,327,136 - 233,390,197 (+)NCBI
Celera2216,458,405 - 216,522,357 (+)NCBICelera
Cytogenetic Map2q43NCBI
Slc39a8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554966,040,029 - 6,109,907 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554966,016,727 - 6,106,965 (+)NCBIChiLan1.0ChiLan1.0
SLC39A8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23100,339,570 - 100,430,481 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14100,626,388 - 100,716,146 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0494,675,458 - 94,770,380 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14105,339,488 - 105,433,813 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4105,339,488 - 105,433,568 (-)Ensemblpanpan1.1panPan2
SLC39A8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13223,727,920 - 23,801,459 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3223,729,476 - 23,800,941 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3218,223,143 - 18,296,028 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03223,949,019 - 24,021,586 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3223,949,029 - 24,022,702 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13223,928,002 - 24,000,562 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03223,708,061 - 23,781,012 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03216,083,043 - 16,156,566 (+)NCBIUU_Cfam_GSD_1.0
Slc39a8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530117,620,065 - 17,693,363 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936520962,756 - 1,037,274 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936520961,376 - 1,036,801 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC39A8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8118,605,402 - 118,678,107 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18118,604,852 - 118,678,115 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28127,753,647 - 127,825,292 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC39A8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1750,355,756 - 50,451,253 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl750,367,436 - 50,451,510 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603728,867,139 - 28,956,324 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc39a8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248305,514,780 - 5,574,894 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248305,514,595 - 5,573,250 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC39A8
181 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter) single nucleotide variant SLC39A8-CDG [RCV001332454] Chr4:102267894 [GRCh38]
Chr4:103189051 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_001135146.2(SLC39A8):c.923C>T (p.Thr308Met) single nucleotide variant SLC39A8-CDG [RCV001332456] Chr4:102267997 [GRCh38]
Chr4:103189154 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh38/hg38 4q24(chr4:101562032-102292685)x3 copy number gain See cases [RCV000137976] Chr4:101562032..102292685 [GRCh38]
Chr4:102483189..103213842 [GRCh37]
Chr4:102702212..103432865 [NCBI36]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg) single nucleotide variant SLC39A8-CDG [RCV000203234]|not provided [RCV001386978] Chr4:102344551 [GRCh38]
Chr4:103265708 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic
NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn) single nucleotide variant SLC39A8-CDG [RCV000203240]|not provided [RCV000492852] Chr4:102267901 [GRCh38]
Chr4:103189058 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic|uncertain significance
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) single nucleotide variant SLC39A8-CDG [RCV000203248]|not provided [RCV000733882]|not specified [RCV003226248] Chr4:102305054 [GRCh38]
Chr4:103226211 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001135146.2(SLC39A8):c.611G>T (p.Gly204Val) single nucleotide variant not provided [RCV001765025] Chr4:102305053 [GRCh38]
Chr4:103226210 [GRCh37]
Chr4:4q24		 likely pathogenic|uncertain significance
NM_001135146.2(SLC39A8):c.357del (p.His119fs) deletion not provided [RCV000489149] Chr4:102315693 [GRCh38]
Chr4:103236850 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1 copy number loss See cases [RCV000445741] Chr4:85805268..103678797 [GRCh37]
Chr4:4q21.23-24		 pathogenic
NM_001135146.2(SLC39A8):c.978C>A (p.Cys326Ter) single nucleotide variant not provided [RCV000439449] Chr4:102267942 [GRCh38]
Chr4:103189099 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_001135146.2(SLC39A8):c.523dup (p.Ser175fs) duplication not provided [RCV000478582] Chr4:102307464..102307465 [GRCh38]
Chr4:103228621..103228622 [GRCh37]
Chr4:4q24		 likely pathogenic|uncertain significance
NM_001135146.2(SLC39A8):c.1166A>G (p.Asn389Ser) single nucleotide variant Inborn genetic diseases [RCV002526991]|SLC39A8-CDG [RCV002226711]|SLC39A8-related disorder [RCV004730954]|not provided [RCV000487100] Chr4:102267557 [GRCh38]
Chr4:103188714 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs) duplication SLC39A8-CDG [RCV003139700]|not provided [RCV000497410] Chr4:102267625..102267626 [GRCh38]
Chr4:103188782..103188783 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001135146.2(SLC39A8):c.1091A>G (p.Gln364Arg) single nucleotide variant not provided [RCV000493164] Chr4:102267632 [GRCh38]
Chr4:103188789 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001135146.2(SLC39A8):c.310_320del (p.Val104fs) deletion not provided [RCV000658184] Chr4:102315730..102315740 [GRCh38]
Chr4:103236887..103236897 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001135147.1(SLC39A8):c.1267-204G>A single nucleotide variant not provided [RCV001535075] Chr4:102259718 [GRCh38]
Chr4:103180875 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) single nucleotide variant Inflammatory bowel disease 1 [RCV003227984]|not provided [RCV001680696] Chr4:102267552 [GRCh38]
Chr4:103188709 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.1041C>T (p.His347=) single nucleotide variant not provided [RCV001641281] Chr4:102267879 [GRCh38]
Chr4:103189036 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.228T>C (p.Thr76=) single nucleotide variant not provided [RCV000982430] Chr4:102315822 [GRCh38]
Chr4:103236979 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.1170C>T (p.Phe390=) single nucleotide variant not provided [RCV000899665] Chr4:102267553 [GRCh38]
Chr4:103188710 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.477A>G (p.Pro159=) single nucleotide variant SLC39A8-related disorder [RCV003942832]|not provided [RCV000919906] Chr4:102307511 [GRCh38]
Chr4:103228668 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.81A>C (p.Leu27=) single nucleotide variant SLC39A8-related disorder [RCV003920789]|not provided [RCV000892859] Chr4:102344582 [GRCh38]
Chr4:103265739 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_001135146.2(SLC39A8):c.1049-17TCT[4] microsatellite not provided [RCV000831389] Chr4:102267677..102267679 [GRCh38]
Chr4:103188834..103188836 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys) single nucleotide variant SLC39A8-CDG [RCV000984964] Chr4:102268005 [GRCh38]
Chr4:103189162 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg) single nucleotide variant SLC39A8-CDG [RCV000785949] Chr4:102315713 [GRCh38]
Chr4:103236870 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.608T>C (p.Phe203Ser) single nucleotide variant not provided [RCV001090879] Chr4:102305056 [GRCh38]
Chr4:103226213 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1049-6T>C single nucleotide variant not provided [RCV000918369] Chr4:102267680 [GRCh38]
Chr4:103188837 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.1371C>T (p.Ile457=) single nucleotide variant not provided [RCV000915862] Chr4:102263056 [GRCh38]
Chr4:103184213 [GRCh37]
Chr4:4q24		 likely benign
GRCh37/hg19 4q24(chr4:102980012-103706640)x1 copy number loss not provided [RCV000848913] Chr4:102980012..103706640 [GRCh37]
Chr4:4q24		 pathogenic
NM_001135146.2(SLC39A8):c.463A>C (p.Lys155Gln) single nucleotide variant Inborn genetic diseases [RCV003247596] Chr4:102307525 [GRCh38]
Chr4:103228682 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.872G>C (p.Cys291Ser) single nucleotide variant Inborn genetic diseases [RCV003241169] Chr4:102268048 [GRCh38]
Chr4:103189205 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.19del (p.Val7fs) deletion not provided [RCV001577110] Chr4:102344644 [GRCh38]
Chr4:103265801 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1233+153A>G single nucleotide variant not provided [RCV001551184] Chr4:102267337 [GRCh38]
Chr4:103188494 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.1234-2A>C single nucleotide variant not provided [RCV004812619] Chr4:102263195 [GRCh38]
Chr4:103184352 [GRCh37]		 uncertain significance
NM_001135146.2(SLC39A8):c.219+258T>G single nucleotide variant not provided [RCV001621219] Chr4:102344186 [GRCh38]
Chr4:103265343 [GRCh37]
Chr4:4q24		 benign
NM_001135147.1(SLC39A8):c.*88T>C single nucleotide variant not provided [RCV001647876] Chr4:102253334 [GRCh38]
Chr4:103174491 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.1049-44dup duplication not provided [RCV001560433] Chr4:102267708..102267709 [GRCh38]
Chr4:103188865..103188866 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.841-180C>T single nucleotide variant not provided [RCV001668073] Chr4:102268259 [GRCh38]
Chr4:103189416 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.220-206dup duplication not provided [RCV001713155] Chr4:102316025..102316026 [GRCh38]
Chr4:103237182..103237183 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.-7G>A single nucleotide variant not provided [RCV001598522] Chr4:102344669 [GRCh38]
Chr4:103265826 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.675+157T>C single nucleotide variant not provided [RCV001671361] Chr4:102304832 [GRCh38]
Chr4:103225989 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.*112T>C single nucleotide variant not provided [RCV001534459] Chr4:102262932 [GRCh38]
Chr4:103184089 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.552+236C>G single nucleotide variant not provided [RCV001638394] Chr4:102307200 [GRCh38]
Chr4:103228357 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.383-68G>A single nucleotide variant not provided [RCV001641098] Chr4:102307673 [GRCh38]
Chr4:103228830 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.1234-302C>G single nucleotide variant not provided [RCV001613612] Chr4:102263495 [GRCh38]
Chr4:103184652 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.841-201G>A single nucleotide variant not provided [RCV001592444] Chr4:102268280 [GRCh38]
Chr4:103189437 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.1049-44_1049-43dup duplication not provided [RCV001530876] Chr4:102267708..102267709 [GRCh38]
Chr4:103188865..103188866 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.841-109T>C single nucleotide variant not provided [RCV001694937] Chr4:102268188 [GRCh38]
Chr4:103189345 [GRCh37]
Chr4:4q24		 benign
NC_000004.11:g.(?_101947022)_(106061534_?)del deletion not provided [RCV003107794] Chr4:101947022..106061534 [GRCh37]
Chr4:4q24		 pathogenic
NM_001135146.2(SLC39A8):c.745C>G (p.Pro249Ala) single nucleotide variant SLC39A8-related disorder [RCV003912963]|not provided [RCV000907605] Chr4:102304412 [GRCh38]
Chr4:103225569 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_001135146.2(SLC39A8):c.627T>G (p.Leu209=) single nucleotide variant not provided [RCV000911750] Chr4:102305037 [GRCh38]
Chr4:103226194 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.801A>G (p.Gly267=) single nucleotide variant not provided [RCV001656657] Chr4:102304356 [GRCh38]
Chr4:103225513 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.219+70G>C single nucleotide variant not provided [RCV001677086] Chr4:102344374 [GRCh38]
Chr4:103265531 [GRCh37]
Chr4:4q24		 benign
NM_001135147.1(SLC39A8):c.1327-66A>C single nucleotide variant not provided [RCV001548367] Chr4:102253496 [GRCh38]
Chr4:103174653 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.1233+230del deletion not provided [RCV001644001] Chr4:102267260 [GRCh38]
Chr4:103188417 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.220-196del deletion not provided [RCV001555522] Chr4:102316026 [GRCh38]
Chr4:103237183 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.16_28del (p.Ala6fs) deletion SLC39A8-CDG [RCV002471570] Chr4:102344635..102344647 [GRCh38]
Chr4:103265792..103265804 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.220-26dup duplication not provided [RCV001595318] Chr4:102315846..102315847 [GRCh38]
Chr4:103237003..103237004 [GRCh37]
Chr4:4q24		 benign
NM_001135147.1(SLC39A8):c.*270G>A single nucleotide variant not provided [RCV001639594] Chr4:102253152 [GRCh38]
Chr4:103174309 [GRCh37]
Chr4:4q24		 benign
NM_001135147.1(SLC39A8):c.1327-141A>G single nucleotide variant not provided [RCV001689015] Chr4:102253571 [GRCh38]
Chr4:103174728 [GRCh37]
Chr4:4q24		 benign
NM_001135147.1(SLC39A8):c.*258G>A single nucleotide variant not provided [RCV001656468] Chr4:102253164 [GRCh38]
Chr4:103174321 [GRCh37]
Chr4:4q24		 benign
NM_001135147.1(SLC39A8):c.1327-232C>T single nucleotide variant not provided [RCV001638530] Chr4:102253662 [GRCh38]
Chr4:103174819 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.*137G>A single nucleotide variant not provided [RCV001680719] Chr4:102262907 [GRCh38]
Chr4:103184064 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.1234-240A>G single nucleotide variant not provided [RCV001693988] Chr4:102263433 [GRCh38]
Chr4:103184590 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs) duplication SLC39A8-CDG [RCV001580614] Chr4:102344444..102344445 [GRCh38]
Chr4:103265601..103265602 [GRCh37]
Chr4:4q24		 pathogenic
NM_001135146.2(SLC39A8):c.*266A>G single nucleotide variant not provided [RCV001679211] Chr4:102262778 [GRCh38]
Chr4:103183935 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.840+219T>G single nucleotide variant not provided [RCV001614657] Chr4:102304098 [GRCh38]
Chr4:103225255 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.-254+22C>T single nucleotide variant not provided [RCV001566280] Chr4:102345323 [GRCh38]
Chr4:103266480 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.552+48C>T single nucleotide variant SLC39A8-CDG [RCV001810228]|not provided [RCV001683810] Chr4:102307388 [GRCh38]
Chr4:103228545 [GRCh37]
Chr4:4q24		 benign
NM_001135147.1(SLC39A8):c.*262dup duplication not provided [RCV001649521] Chr4:102253159..102253160 [GRCh38]
Chr4:103174316..103174317 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.-253-107T>G single nucleotide variant not provided [RCV001615756] Chr4:102345022 [GRCh38]
Chr4:103266179 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser) single nucleotide variant SLC39A8-CDG [RCV001089507] Chr4:102315712 [GRCh38]
Chr4:103236869 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_001135146.2(SLC39A8):c.675+200dup duplication not provided [RCV001663305] Chr4:102304784..102304785 [GRCh38]
Chr4:103225941..103225942 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.966del (p.Ile322fs) deletion not provided [RCV001538788] Chr4:102267954 [GRCh38]
Chr4:103189111 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1020C>G (p.Ile340Met) single nucleotide variant SLC39A8-CDG [RCV001332453] Chr4:102267900 [GRCh38]
Chr4:103189057 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter) single nucleotide variant SLC39A8-CDG [RCV001332455] Chr4:102315734 [GRCh38]
Chr4:103236891 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr) single nucleotide variant SLC39A8-CDG [RCV002246293]|not provided [RCV001312045] Chr4:102267955 [GRCh38]
Chr4:103189112 [GRCh37]
Chr4:4q24		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001135146.2(SLC39A8):c.841-186G>T single nucleotide variant not provided [RCV001670580] Chr4:102268265 [GRCh38]
Chr4:103189422 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.383-214C>T single nucleotide variant not provided [RCV001612731] Chr4:102307819 [GRCh38]
Chr4:103228976 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.411G>A (p.Thr137=) single nucleotide variant not provided [RCV001648711] Chr4:102307577 [GRCh38]
Chr4:103228734 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.676-66A>G single nucleotide variant not provided [RCV001670093] Chr4:102304547 [GRCh38]
Chr4:103225704 [GRCh37]
Chr4:4q24		 benign
NM_001135147.1(SLC39A8):c.*154A>G single nucleotide variant not provided [RCV001686809] Chr4:102253268 [GRCh38]
Chr4:103174425 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.675+199A>T single nucleotide variant not provided [RCV001665799] Chr4:102304790 [GRCh38]
Chr4:103225947 [GRCh37]
Chr4:4q24		 benign
NC_000004.11:g.(?_102001669)_(103806607_?)del deletion not provided [RCV003105379] Chr4:102001669..103806607 [GRCh37]
Chr4:4q24		 pathogenic
NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile) single nucleotide variant SLC39A8-CDG [RCV002246724] Chr4:102263144 [GRCh38]
Chr4:103184301 [GRCh37]
Chr4:4q24		 pathogenic
GRCh37/hg19 4q24(chr4:102851823-104641864) copy number loss Immunodeficiency, common variable, 12 [RCV002280616] Chr4:102851823..104641864 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_001135146.2(SLC39A8):c.383-2A>G single nucleotide variant not provided [RCV001772426] Chr4:102307607 [GRCh38]
Chr4:103228764 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1234-264G>A single nucleotide variant not provided [RCV001762871] Chr4:102263457 [GRCh38]
Chr4:103184614 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.157G>T (p.Glu53Ter) single nucleotide variant not provided [RCV001760542] Chr4:102344506 [GRCh38]
Chr4:103265663 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.446dup (p.Leu149fs) duplication not provided [RCV001756319] Chr4:102307541..102307542 [GRCh38]
Chr4:103228698..103228699 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.840+2T>C single nucleotide variant not provided [RCV001757010] Chr4:102304315 [GRCh38]
Chr4:103225472 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.840+4T>C single nucleotide variant not specified [RCV004799987] Chr4:102304313 [GRCh38]
Chr4:103225470 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NM_001135146.2(SLC39A8):c.841G>A (p.Asp281Asn) single nucleotide variant not provided [RCV002003464] Chr4:102268079 [GRCh38]
Chr4:103189236 [GRCh37]
Chr4:4q24		 uncertain significance
NC_000004.11:g.(?_101947022)_(104640832_?)del deletion Beta-D-mannosidosis [RCV001946800]|not provided [RCV003107924] Chr4:101947022..104640832 [GRCh37]
Chr4:4q24		 pathogenic|no classifications from unflagged records
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 copy number gain not provided [RCV001827745] Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25		 likely pathogenic
NM_001135146.2(SLC39A8):c.131C>A (p.Ser44Ter) single nucleotide variant not provided [RCV002039709] Chr4:102344532 [GRCh38]
Chr4:103265689 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.552+7A>T single nucleotide variant not provided [RCV002039354] Chr4:102307429 [GRCh38]
Chr4:103228586 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.500G>C (p.Gly167Ala) single nucleotide variant SLC39A8-CDG [RCV002226857] Chr4:102307488 [GRCh38]
Chr4:103228645 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.931G>A (p.Asp311Asn) single nucleotide variant not provided [RCV002223727] Chr4:102267989 [GRCh38]
Chr4:103189146 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1345C>T (p.Leu449Phe) single nucleotide variant not provided [RCV002176361] Chr4:102263082 [GRCh38]
Chr4:103184239 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.220-17del deletion not provided [RCV002118700] Chr4:102315847 [GRCh38]
Chr4:103237004 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.1234-11C>G single nucleotide variant not provided [RCV002154569] Chr4:102263204 [GRCh38]
Chr4:103184361 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.814G>C (p.Asp272His) single nucleotide variant Inborn genetic diseases [RCV004683747] Chr4:102304343 [GRCh38]
Chr4:103225500 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.410C>T (p.Thr137Met) single nucleotide variant See cases [RCV002252404] Chr4:102307578 [GRCh38]
Chr4:103228735 [GRCh37]
Chr4:4q24		 uncertain significance
A391T variation Inflammatory bowel disease 1 [RCV003152346]   benign
NM_001135146.2(SLC39A8):c.1233+169C>T single nucleotide variant not provided [RCV002285800] Chr4:102267321 [GRCh38]
Chr4:103188478 [GRCh37]
Chr4:4q24		 likely benign
GRCh37/hg19 4q24(chr4:102942671-103682051)x1 copy number loss not provided [RCV002263369] Chr4:102942671..103682051 [GRCh37]
Chr4:4q24		 pathogenic
NM_001135146.2(SLC39A8):c.274A>C (p.Ile92Leu) single nucleotide variant not provided [RCV002297753] Chr4:102315776 [GRCh38]
Chr4:103236933 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.382+1_382+12del deletion not provided [RCV002467090] Chr4:102315656..102315667 [GRCh38]
Chr4:103236813..103236824 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.97G>A (p.Val33Met) single nucleotide variant not provided [RCV002518400] Chr4:102344566 [GRCh38]
Chr4:103265723 [GRCh37]
Chr4:4q24		 benign|conflicting interpretations of pathogenicity
NM_001135146.2(SLC39A8):c.758G>T (p.Gly253Val) single nucleotide variant Inborn genetic diseases [RCV002816833] Chr4:102304399 [GRCh38]
Chr4:103225556 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.841-9T>G single nucleotide variant not provided [RCV002614732] Chr4:102268088 [GRCh38]
Chr4:103189245 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.1048+3A>T single nucleotide variant not provided [RCV002727020] Chr4:102267869 [GRCh38]
Chr4:103189026 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.98_99del (p.Val33fs) microsatellite not provided [RCV002839388] Chr4:102344564..102344565 [GRCh38]
Chr4:103265721..103265722 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.59G>C (p.Gly20Ala) single nucleotide variant Inborn genetic diseases [RCV002979779]|not provided [RCV002995520] Chr4:102344604 [GRCh38]
Chr4:103265761 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_001135146.2(SLC39A8):c.1131T>C (p.Tyr377=) single nucleotide variant not provided [RCV003015626] Chr4:102267592 [GRCh38]
Chr4:103188749 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.1259G>C (p.Arg420Thr) single nucleotide variant not provided [RCV002726890] Chr4:102263168 [GRCh38]
Chr4:103184325 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.7C>T (p.Pro3Ser) single nucleotide variant Inborn genetic diseases [RCV002682623] Chr4:102344656 [GRCh38]
Chr4:103265813 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.571A>G (p.Lys191Glu) single nucleotide variant Inborn genetic diseases [RCV002754306] Chr4:102305093 [GRCh38]
Chr4:103226250 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.552+1G>A single nucleotide variant not provided [RCV002994389] Chr4:102307435 [GRCh38]
Chr4:103228592 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.783T>A (p.Ala261=) single nucleotide variant not provided [RCV002750396] Chr4:102304374 [GRCh38]
Chr4:103225531 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.219+17C>T single nucleotide variant not provided [RCV003034070] Chr4:102344427 [GRCh38]
Chr4:103265584 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.77G>A (p.Gly26Glu) single nucleotide variant not provided [RCV002971436] Chr4:102344586 [GRCh38]
Chr4:103265743 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1287T>C (p.Asp429=) single nucleotide variant not provided [RCV002843057] Chr4:102263140 [GRCh38]
Chr4:103184297 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.272A>T (p.Gln91Leu) single nucleotide variant Inborn genetic diseases [RCV003012939] Chr4:102315778 [GRCh38]
Chr4:103236935 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1380G>A (p.Glu460=) single nucleotide variant not provided [RCV002842748] Chr4:102263047 [GRCh38]
Chr4:103184204 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.1337C>A (p.Ala446Asp) single nucleotide variant not provided [RCV002819009] Chr4:102263090 [GRCh38]
Chr4:103184247 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.137C>T (p.Ala46Val) single nucleotide variant Inborn genetic diseases [RCV002981217] Chr4:102344526 [GRCh38]
Chr4:103265683 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.842A>G (p.Asp281Gly) single nucleotide variant Inborn genetic diseases [RCV002981254] Chr4:102268078 [GRCh38]
Chr4:103189235 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.552+6G>T single nucleotide variant Inborn genetic diseases [RCV002738185]|not provided [RCV003730277] Chr4:102307430 [GRCh38]
Chr4:103228587 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1042G>A (p.Glu348Lys) single nucleotide variant not provided [RCV002736188] Chr4:102267878 [GRCh38]
Chr4:103189035 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1075G>A (p.Gly359Arg) single nucleotide variant not provided [RCV002510205] Chr4:102267648 [GRCh38]
Chr4:103188805 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.940_948dup (p.Phe316_Ile317insHisAsnPhe) duplication not provided [RCV002510228] Chr4:102267971..102267972 [GRCh38]
Chr4:103189128..103189129 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.70G>T (p.Gly24Trp) single nucleotide variant Inborn genetic diseases [RCV002660395] Chr4:102344593 [GRCh38]
Chr4:103265750 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.78G>A (p.Gly26=) single nucleotide variant not provided [RCV002979791] Chr4:102344585 [GRCh38]
Chr4:103265742 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.930C>T (p.Cys310=) single nucleotide variant not provided [RCV002781187] Chr4:102267990 [GRCh38]
Chr4:103189147 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.219+18G>C single nucleotide variant not provided [RCV002760376] Chr4:102344426 [GRCh38]
Chr4:103265583 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.153G>C (p.Leu51Phe) single nucleotide variant Inborn genetic diseases [RCV002844237] Chr4:102344510 [GRCh38]
Chr4:103265667 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1049-17TCT[7] microsatellite not provided [RCV002662377] Chr4:102267676..102267677 [GRCh38]
Chr4:103188833..103188834 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.69G>C (p.Glu23Asp) single nucleotide variant not provided [RCV003042447] Chr4:102344594 [GRCh38]
Chr4:103265751 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.751A>G (p.Ile251Val) single nucleotide variant not provided [RCV002700780] Chr4:102304406 [GRCh38]
Chr4:103225563 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.532A>C (p.Ile178Leu) single nucleotide variant not provided [RCV002958987] Chr4:102307456 [GRCh38]
Chr4:103228613 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.87C>T (p.Phe29=) single nucleotide variant not provided [RCV002666539] Chr4:102344576 [GRCh38]
Chr4:103265733 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.389G>T (p.Gly130Val) single nucleotide variant not provided [RCV003043504] Chr4:102307599 [GRCh38]
Chr4:103228756 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.10G>C (p.Gly4Arg) single nucleotide variant not provided [RCV002933384] Chr4:102344653 [GRCh38]
Chr4:103265810 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1049-12T>A single nucleotide variant not provided [RCV002597333] Chr4:102267686 [GRCh38]
Chr4:103188843 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.676-9C>G single nucleotide variant not provided [RCV002643867] Chr4:102304490 [GRCh38]
Chr4:103225647 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.360A>C (p.Lys120Asn) single nucleotide variant not provided [RCV002666728] Chr4:102315690 [GRCh38]
Chr4:103236847 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.8C>T (p.Pro3Leu) single nucleotide variant not provided [RCV002919010] Chr4:102344655 [GRCh38]
Chr4:103265812 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.48C>T (p.Ala16=) single nucleotide variant not provided [RCV002576110] Chr4:102344615 [GRCh38]
Chr4:103265772 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.167del (p.Gly56fs) deletion not provided [RCV002958215] Chr4:102344496 [GRCh38]
Chr4:103265653 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.165G>T (p.Met55Ile) single nucleotide variant not provided [RCV002928978] Chr4:102344498 [GRCh38]
Chr4:103265655 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.219+17C>A single nucleotide variant not provided [RCV002800907] Chr4:102344427 [GRCh38]
Chr4:103265584 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.82G>A (p.Ala28Thr) single nucleotide variant not provided [RCV002851236] Chr4:102344581 [GRCh38]
Chr4:103265738 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.676-4A>G single nucleotide variant Inborn genetic diseases [RCV002673553]|SLC39A8-related disorder [RCV003946356]|not provided [RCV003730262] Chr4:102304485 [GRCh38]
Chr4:103225642 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_001135146.2(SLC39A8):c.521T>C (p.Phe174Ser) single nucleotide variant not provided [RCV002807119] Chr4:102307467 [GRCh38]
Chr4:103228624 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.824G>T (p.Ser275Ile) single nucleotide variant not provided [RCV002961972] Chr4:102304333 [GRCh38]
Chr4:103225490 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.133G>T (p.Ala45Ser) single nucleotide variant not provided [RCV002601061] Chr4:102344530 [GRCh38]
Chr4:103265687 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1253T>C (p.Met418Thr) single nucleotide variant not provided [RCV002602012] Chr4:102263174 [GRCh38]
Chr4:103184331 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1049-10C>A single nucleotide variant not provided [RCV003086339] Chr4:102267684 [GRCh38]
Chr4:103188841 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.69G>A (p.Glu23=) single nucleotide variant not provided [RCV002833547] Chr4:102344594 [GRCh38]
Chr4:103265751 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.960G>C (p.Leu320=) single nucleotide variant not provided [RCV002580020] Chr4:102267960 [GRCh38]
Chr4:103189117 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.219+13G>A single nucleotide variant not provided [RCV002653489] Chr4:102344431 [GRCh38]
Chr4:103265588 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.676-18G>T single nucleotide variant not provided [RCV002604164] Chr4:102304499 [GRCh38]
Chr4:103225656 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.1191A>G (p.Ala397=) single nucleotide variant not provided [RCV002604883] Chr4:102267532 [GRCh38]
Chr4:103188689 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.1233+15A>G single nucleotide variant not provided [RCV002604005] Chr4:102267475 [GRCh38]
Chr4:103188632 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.1049-13C>T single nucleotide variant not provided [RCV002586492] Chr4:102267687 [GRCh38]
Chr4:103188844 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.1234-18A>G single nucleotide variant not provided [RCV002589132] Chr4:102263211 [GRCh38]
Chr4:103184368 [GRCh37]
Chr4:4q24		 likely benign
NC_000004.11:g.(?_101947022)_(107268849_?)dup duplication not provided [RCV003154901] Chr4:101947022..107268849 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.689A>G (p.His230Arg) single nucleotide variant Inborn genetic diseases [RCV003203865] Chr4:102304468 [GRCh38]
Chr4:103225625 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.*1062C>T single nucleotide variant SLC39A8-CDG [RCV003136780] Chr4:102261982 [GRCh38]
Chr4:103183139 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1372G>C (p.Glu458Gln) single nucleotide variant SLC39A8-CDG [RCV003136779] Chr4:102263055 [GRCh38]
Chr4:103184212 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.716A>G (p.Gln239Arg) single nucleotide variant Inborn genetic diseases [RCV003263134] Chr4:102304441 [GRCh38]
Chr4:103225598 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.524C>G (p.Ser175Ter) single nucleotide variant not provided [RCV003329620] Chr4:102307464 [GRCh38]
Chr4:103228621 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.346C>T (p.Arg116Trp) single nucleotide variant Inborn genetic diseases [RCV003342704] Chr4:102315704 [GRCh38]
Chr4:103236861 [GRCh37]
Chr4:4q24		 likely benign
GRCh37/hg19 4q23-24(chr4:100542119-103793167)x1 copy number loss not provided [RCV003485432] Chr4:100542119..103793167 [GRCh37]
Chr4:4q23-24		 pathogenic
NM_001135146.2(SLC39A8):c.382+2T>C single nucleotide variant not provided [RCV003442377] Chr4:102315666 [GRCh38]
Chr4:103236823 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.309A>T (p.Ala103=) single nucleotide variant not provided [RCV003849704] Chr4:102315741 [GRCh38]
Chr4:103236898 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.99G>A (p.Val33=) single nucleotide variant not provided [RCV003839864] Chr4:102344564 [GRCh38]
Chr4:103265721 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.54C>G (p.Leu18=) single nucleotide variant not provided [RCV003838730] Chr4:102344609 [GRCh38]
Chr4:103265766 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.322T>C (p.Leu108=) single nucleotide variant not provided [RCV003832421] Chr4:102315728 [GRCh38]
Chr4:103236885 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.1093G>A (p.Ala365Thr) single nucleotide variant not provided [RCV003558997] Chr4:102267630 [GRCh38]
Chr4:103188787 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.88A>G (p.Ser30Gly) single nucleotide variant not provided [RCV003728433] Chr4:102344575 [GRCh38]
Chr4:103265732 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1071T>C (p.Asn357=) single nucleotide variant not provided [RCV003861194] Chr4:102267652 [GRCh38]
Chr4:103188809 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.660A>G (p.Leu220=) single nucleotide variant not provided [RCV003866026] Chr4:102305004 [GRCh38]
Chr4:103226161 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.841-13G>T single nucleotide variant not provided [RCV003685042] Chr4:102268092 [GRCh38]
Chr4:103189249 [GRCh37]
Chr4:4q24		 likely benign
GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1 copy number loss not specified [RCV003986486] Chr4:99355670..107274288 [GRCh37]
Chr4:4q23-24		 pathogenic
NM_001135146.2(SLC39A8):c.963G>A (p.Ala321=) single nucleotide variant not provided [RCV003731687] Chr4:102267957 [GRCh38]
Chr4:103189114 [GRCh37]
Chr4:4q24		 likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1 copy number loss not specified [RCV003986501] Chr4:100172302..107880077 [GRCh37]
Chr4:4q23-25		 pathogenic
NM_001135146.2(SLC39A8):c.190C>T (p.Pro64Ser) single nucleotide variant not provided [RCV003730052] Chr4:102344473 [GRCh38]
Chr4:103265630 [GRCh37]
Chr4:4q24		 benign
NM_001135146.2(SLC39A8):c.1359T>C (p.Tyr453=) single nucleotide variant not provided [RCV003854148] Chr4:102263068 [GRCh38]
Chr4:103184225 [GRCh37]
Chr4:4q24		 likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_001135147.1(SLC39A8):c.1267-4G>C single nucleotide variant SLC39A8-related disorder [RCV003957150] Chr4:102259518 [GRCh38]
Chr4:103180675 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.951C>T (p.Ile317=) single nucleotide variant SLC39A8-related disorder [RCV003946781] Chr4:102267969 [GRCh38]
Chr4:103189126 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.1049-17TCT[6] microsatellite SLC39A8-related disorder [RCV003902229] Chr4:102267676..102267677 [GRCh38]
Chr4:103188833..103188834 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.1007C>A (p.Thr336Asn) single nucleotide variant Inborn genetic diseases [RCV004461602] Chr4:102267913 [GRCh38]
Chr4:103189070 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.880G>A (p.Gly294Arg) single nucleotide variant Inborn genetic diseases [RCV004461604] Chr4:102268040 [GRCh38]
Chr4:103189197 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1120T>A (p.Cys374Ser) single nucleotide variant SLC39A8-CDG [RCV004560485] Chr4:102267603 [GRCh38]
Chr4:103188760 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.876G>C (p.Leu292Phe) single nucleotide variant not provided [RCV004592409] Chr4:102268044 [GRCh38]
Chr4:103189201 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.495del (p.Phe165fs) deletion not provided [RCV004592101] Chr4:102307493 [GRCh38]
Chr4:103228650 [GRCh37]
Chr4:4q24		 uncertain significance
NC_000004.11:g.(?_101947022)_(104640852_?)del deletion not provided [RCV004580833] Chr4:101947022..104640852 [GRCh37]
Chr4:4q24		 pathogenic
NM_001135146.2(SLC39A8):c.902G>A (p.Gly301Glu) single nucleotide variant Inborn genetic diseases [RCV004674707] Chr4:102268018 [GRCh38]
Chr4:103189175 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.1301T>C (p.Met434Thr) single nucleotide variant Inborn genetic diseases [RCV004674708] Chr4:102263126 [GRCh38]
Chr4:103184283 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.513G>T (p.Gly171=) single nucleotide variant not specified [RCV004702730] Chr4:102307475 [GRCh38]
Chr4:103228632 [GRCh37]
Chr4:4q24		 likely benign
NM_001135146.2(SLC39A8):c.781G>A (p.Ala261Thr) single nucleotide variant not provided [RCV004767954] Chr4:102304376 [GRCh38]
Chr4:103225533 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.863del (p.Ser288fs) deletion not provided [RCV004767955] Chr4:102268057 [GRCh38]
Chr4:103189214 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.227C>T (p.Thr76Ile) single nucleotide variant not specified [RCV004702719] Chr4:102315823 [GRCh38]
Chr4:103236980 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001135146.2(SLC39A8):c.220-1G>T single nucleotide variant not provided [RCV004775205] Chr4:102315831 [GRCh38]
Chr4:103236988 [GRCh37]
Chr4:4q24		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2482
Count of miRNA genes:1020
Interacting mature miRNAs:1227
Transcripts:ENST00000356736, ENST00000394833, ENST00000424970, ENST00000502903, ENST00000510255, ENST00000512337, ENST00000512657, ENST00000514000
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
596961044GWAS1080563_Hneuroimaging measurement QTL GWAS1080563 (human)6e-21neuroimaging measurement4102267552102267553Human
596958102GWAS1077621_Hhigh density lipoprotein cholesterol measurement QTL GWAS1077621 (human)4e-16blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
406970690GWAS619666_Herythrocyte cadmium measurement QTL GWAS619666 (human)0.0000003erythrocyte cadmium measurement4102334535102334536Human
406893642GWAS542618_Hdiastolic blood pressure QTL GWAS542618 (human)5e-33diastolic blood pressurediastolic blood pressure (CMO:0000005)4102267552102267553Human
406942673GWAS591649_Hinsomnia measurement QTL GWAS591649 (human)3e-16insomnia measurement4102276925102276926Human
596955520GWAS1075039_Halcohol use disorder measurement, alcohol consumption measurement QTL GWAS1075039 (human)3e-09alcohol use disorder measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)4102276925102276926Human
407004375GWAS653351_Hhemoglobin measurement QTL GWAS653351 (human)7e-32hemoglobin measurementhemoglobin measurement (CMO:0000508)4102267552102267553Human
407161694GWAS810670_Hdiastolic blood pressure QTL GWAS810670 (human)2e-17body height (VT:0001253)body height (CMO:0000106)4102267552102267553Human
596962575GWAS1082094_Hgastroesophageal reflux disease, vital capacity QTL GWAS1082094 (human)6e-11hypertension4102267552102267553Human
407161688GWAS810664_Hhypertension QTL GWAS810664 (human)0.0000005hypertension4102267552102267553Human
407041631GWAS690607_Hsitting height ratio QTL GWAS690607 (human)0.000004sitting height ratio4102283688102283689Human
407003618GWAS652594_HBMI-adjusted waist circumference QTL GWAS652594 (human)5e-20body size trait (VT:0100005)systolic blood pressure (CMO:0000004)4102267552102267553Human
407136355GWAS785331_Hhigh density lipoprotein cholesterol measurement QTL GWAS785331 (human)7e-11blood HDL phospholipid amount (VT:0010504)blood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
406887402GWAS536378_Hbody mass index QTL GWAS536378 (human)0.0000003body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
596952767GWAS1072286_Hsexual dimorphism measurement QTL GWAS1072286 (human)3e-08sexual dimorphism measurement4102276925102276926Human
407096046GWAS745022_Halcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS745022 (human)2e-32alcohol consumption measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102276925102276926Human
596956986GWAS1076505_Htriglyceride:HDL cholesterol ratio QTL GWAS1076505 (human)1e-31triglyceride:HDL cholesterol ratio4102267552102267553Human
406986477GWAS635453_Hintelligence QTL GWAS635453 (human)2e-09intelligence4102269072102269073Human
596966820GWAS1086339_Hdiastolic blood pressure QTL GWAS1086339 (human)9e-33diastolic blood pressurediastolic blood pressure (CMO:0000005)4102267552102267553Human
406944628GWAS593604_Hobese body mass index status QTL GWAS593604 (human)1e-08taste liking measurementbody mass index (BMI) (CMO:0000105)4102276925102276926Human
596952482GWAS1072001_Hbody mass index QTL GWAS1072001 (human)4e-09neuroimaging measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407003641GWAS652617_Hhematocrit QTL GWAS652617 (human)2e-31body mass index, osteoarthritisbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407162106GWAS811082_Hbody mass index QTL GWAS811082 (human)2e-13body size trait (VT:0100005)blood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
596960592GWAS1080111_Hmetabolic syndrome QTL GWAS1080111 (human)7e-13metabolic syndrome4102312050102312051Human
407083781GWAS732757_Hbody fat percentage QTL GWAS732757 (human)4e-10Agents acting on the renin-angiotensin system use measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407404559GWAS1053535_Hobsolete_red blood cell distribution width QTL GWAS1053535 (human)6e-11obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)4102326283102326284Human
596951517GWAS1071036_Hphysical activity measurement, body mass index QTL GWAS1071036 (human)3e-10alcohol consumption measurementblood very low density lipoprotein cholesterol level (CMO:0000648)4102267552102267553Human
407161481GWAS810457_Hsystolic blood pressure QTL GWAS810457 (human)3e-14body size trait (VT:0100005)blood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407097229GWAS746205_Hwaist-hip ratio QTL GWAS746205 (human)1e-20waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)4102267552102267553Human
407085714GWAS734690_Halcohol consumption measurement QTL GWAS734690 (human)1e-24free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
596963525GWAS1083044_Hcholesteryl ester measurement, high density lipoprotein cholesterol measurement QTL GWAS1083044 (human)6e-22blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
596958278GWAS1077797_HRed cell distribution width QTL GWAS1077797 (human)6e-11Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)4102326283102326284Human
406900628GWAS549604_Hdiastolic blood pressure QTL GWAS549604 (human)4e-11phospholipid measurementmean arterial blood pressure (CMO:0000009)4102267552102267553Human
406900632GWAS549608_Hdiastolic blood pressure QTL GWAS549608 (human)8e-11diastolic blood pressure, unipolar depressiondiastolic blood pressure (CMO:0000005)4102267552102267553Human
407321375GWAS970351_Hliver fat measurement, liver disease biomarker QTL GWAS970351 (human)1e-133liver lipid amount (VT:0010764)liver fat morphological measurement (CMO:0002187)4102267552102267553Human
596954572GWAS1074091_Hpain measurement QTL GWAS1074091 (human)9e-24nociception system physiology trait (VT:0015100)4102267552102267553Human
596960590GWAS1080109_Hmetabolic syndrome QTL GWAS1080109 (human)7e-65metabolic syndrome4102267552102267553Human
407115167GWAS764143_Halcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS764143 (human)2e-33alcohol consumption measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102276925102276926Human
596960591GWAS1080110_Hmetabolic syndrome QTL GWAS1080110 (human)2e-11metabolic syndrome4102271086102271087Human
596953547GWAS1073066_Halcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS1073066 (human)2e-31alcohol drinking, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102276925102276926Human
596951542GWAS1071061_Hsystolic blood pressure QTL GWAS1071061 (human)6e-10urate measurementblood uric acid level (CMO:0000501)4102267552102267553Human
406904483GWAS553459_Hsystolic blood pressure QTL GWAS553459 (human)2e-21intelligencesystolic blood pressure (CMO:0000004)4102267552102267553Human
407076518GWAS725494_Hrisk-taking behaviour QTL GWAS725494 (human)4e-13neuroimaging measurement4102267552102267553Human
407002789GWAS651765_Hhemoglobin measurement QTL GWAS651765 (human)1e-37neuroimaging measurementhemoglobin measurement (CMO:0000508)4102267552102267553Human
596952573GWAS1072092_Hbody mass index QTL GWAS1072092 (human)1e-12enzyme/coenzyme activity trait (VT:0005584)both kidneys wet weight as percentage of body weight (CMO:0000140)4102267552102267553Human
406986408GWAS635384_Hintelligence QTL GWAS635384 (human)1e-09intelligence4102290097102290098Human
406979759GWAS628735_Hintelligence QTL GWAS628735 (human)3e-11intelligence4102307673102307674Human
596962299GWAS1081818_Hbrain measurement QTL GWAS1081818 (human)3e-27brain measurementbrain measurement (CMO:0000911)4102267552102267553Human
406892978GWAS541954_Hsystolic blood pressure QTL GWAS541954 (human)3e-09cortical thicknessblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407072560GWAS721536_Hvisceral adipose tissue measurement QTL GWAS721536 (human)7e-13visceral adipose tissue measurementabdominal fat morphological measurement (CMO:0000311)4102276925102276926Human
596966247GWAS1085766_Hbody mass index QTL GWAS1085766 (human)2e-32body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
406892980GWAS541956_Hsystolic blood pressure QTL GWAS541956 (human)1e-08cortical thicknessbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407126705GWAS775681_Hdiastolic blood pressure QTL GWAS775681 (human)2e-14blood lipid amount (VT:0003949)serum gamma-glutamyltransferase activity level (CMO:0002241)4102267552102267553Human
406947895GWAS596871_Halcohol consumption measurement QTL GWAS596871 (human)2e-35alcohol consumption measurementethanol drink intake rate (CMO:0001407)4102276925102276926Human
596954979GWAS1074498_Hsystolic blood pressure QTL GWAS1074498 (human)5e-11neuroimaging measurementsystolic blood pressure (CMO:0000004)4102267552102267553Human
406999994GWAS648970_Hhematocrit QTL GWAS648970 (human)3e-38hematocrithematocrit (CMO:0000037)4102267552102267553Human
596951533GWAS1071052_Hphysical activity measurement, body mass index QTL GWAS1071052 (human)2e-10triglyceride measurementblood triglyceride level (CMO:0000118)4102267552102267553Human
407081273GWAS730249_Hdiastolic blood pressure QTL GWAS730249 (human)8e-12diastolic blood pressurediastolic blood pressure (CMO:0000005)4102267552102267553Human
596953966GWAS1073485_Hbody mass index QTL GWAS1073485 (human)0.000008body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
596959214GWAS1078733_Hfat body mass QTL GWAS1078733 (human)2e-19body fat mass (VT:0010482)total body fat mass (CMO:0000305)4102276925102276926Human
407001790GWAS650766_Hhemoglobin measurement QTL GWAS650766 (human)1e-38hemoglobin measurementhemoglobin measurement (CMO:0000508)4102267552102267553Human
596952170GWAS1071689_Heducational attainment QTL GWAS1071689 (human)2e-08pulse pressure measurementpulse pressure (CMO:0000292)4102267552102267553Human
596951531GWAS1071050_Hphysical activity measurement, body mass index QTL GWAS1071050 (human)1e-09neuroimaging measurementblood uric acid level (CMO:0000501)4102267552102267553Human

Markers in Region
G34418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,234,040 - 103,234,210UniSTSGRCh37
Build 364103,453,063 - 103,453,233RGDNCBI36
Celera4100,532,528 - 100,532,698RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,971,400 - 98,971,570UniSTS
TNG Radiation Hybrid Map462988.0UniSTS
SHGC-50443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,182,910 - 103,183,014UniSTSGRCh37
Build 364103,401,933 - 103,402,037RGDNCBI36
Celera4100,481,389 - 100,481,493RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,920,261 - 98,920,365UniSTS
TNG Radiation Hybrid Map462976.0UniSTS
RH92985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,183,762 - 103,183,928UniSTSGRCh37
Build 364103,402,785 - 103,402,951RGDNCBI36
Celera4100,482,241 - 100,482,407RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,921,113 - 98,921,279UniSTS
GeneMap99-GB4 RH Map4489.89UniSTS
RH65581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,254,726 - 103,254,867UniSTSGRCh37
Build 364103,473,749 - 103,473,890RGDNCBI36
Celera4100,553,215 - 100,553,356RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,992,003 - 98,992,144UniSTS
GeneMap99-GB4 RH Map4494.25UniSTS
NCBI RH Map41163.1UniSTS
PMC321570P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,183,687 - 103,184,000UniSTSGRCh37
Build 364103,402,710 - 103,403,023RGDNCBI36
Celera4100,482,166 - 100,482,479RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,921,038 - 98,921,351UniSTS
SHGC-36631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,182,833 - 103,182,958UniSTSGRCh37
Build 364103,401,856 - 103,401,981RGDNCBI36
Celera4100,481,312 - 100,481,437RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,920,184 - 98,920,309UniSTS
Stanford-G3 RH Map45740.0UniSTS
GeneMap99-G3 RH Map45668.0UniSTS
G20730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,182,871 - 103,183,098UniSTSGRCh37
Build 364103,401,894 - 103,402,121RGDNCBI36
Celera4100,481,350 - 100,481,577RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,920,222 - 98,920,449UniSTS
A006D35  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,182,871 - 103,183,098UniSTSGRCh37
Build 364103,401,894 - 103,402,121RGDNCBI36
Celera4100,481,350 - 100,481,577RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,920,222 - 98,920,449UniSTS
GeneMap99-GB4 RH Map4489.89UniSTS
NCBI RH Map41161.8UniSTS
D4S2644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,234,080 - 103,234,210UniSTSGRCh37
Build 364103,453,103 - 103,453,233RGDNCBI36
Celera4100,532,568 - 100,532,698RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,971,440 - 98,971,570UniSTS
Stanford-G3 RH Map45775.0UniSTS
Whitehead-RH Map4533.9UniSTS
Whitehead-YAC Contig Map4 UniSTS
RH78848  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q22-q24UniSTS
GeneMap99-GB4 RH Map1596.32UniSTS


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 2436 2788 2248 4956 1724 2349 5 624 1951 464 2269 7293 6461 53 3720 1 850 1738 1615 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB020969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB020970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB040120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF193052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF000600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI823248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA438467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR006301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000356736   ⟹   ENSP00000349174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,666 - 102,345,482 (-)Ensembl
Ensembl Acc Id: ENST00000394833   ⟹   ENSP00000378310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,666 - 102,345,139 (-)Ensembl
Ensembl Acc Id: ENST00000424970   ⟹   ENSP00000394548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,251,080 - 102,345,501 (-)Ensembl
Ensembl Acc Id: ENST00000502903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,307,557 - 102,431,258 (-)Ensembl
Ensembl Acc Id: ENST00000510255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,304,407 - 102,353,000 (-)Ensembl
Ensembl Acc Id: ENST00000512337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,269,716 - 102,304,488 (-)Ensembl
Ensembl Acc Id: ENST00000512657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,305,025 - 102,345,482 (-)Ensembl
Ensembl Acc Id: ENST00000514000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,304,448 - 102,345,437 (-)Ensembl
Ensembl Acc Id: ENST00000682227   ⟹   ENSP00000508363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,677 - 102,345,207 (-)Ensembl
Ensembl Acc Id: ENST00000682243   ⟹   ENSP00000507952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,681 - 102,345,461 (-)Ensembl
Ensembl Acc Id: ENST00000682549   ⟹   ENSP00000507483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,257,209 - 102,345,461 (-)Ensembl
Ensembl Acc Id: ENST00000682932   ⟹   ENSP00000507414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,677 - 102,345,531 (-)Ensembl
Ensembl Acc Id: ENST00000683173   ⟹   ENSP00000508032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,677 - 102,345,461 (-)Ensembl
Ensembl Acc Id: ENST00000683221   ⟹   ENSP00000508093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,266,682 - 102,345,801 (-)Ensembl
Ensembl Acc Id: ENST00000683401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,677 - 102,345,837 (-)Ensembl
Ensembl Acc Id: ENST00000683412   ⟹   ENSP00000507538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,677 - 102,345,205 (-)Ensembl
Ensembl Acc Id: ENST00000683462   ⟹   ENSP00000507170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,681 - 102,345,492 (-)Ensembl
Ensembl Acc Id: ENST00000683634   ⟹   ENSP00000507087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,266,677 - 102,345,461 (-)Ensembl
Ensembl Acc Id: ENST00000683706   ⟹   ENSP00000506745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,687 - 102,345,495 (-)Ensembl
Ensembl Acc Id: ENST00000683916   ⟹   ENSP00000508106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,681 - 102,345,440 (-)Ensembl
Ensembl Acc Id: ENST00000684289   ⟹   ENSP00000506748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,679 - 102,345,482 (-)Ensembl
Ensembl Acc Id: ENST00000684386   ⟹   ENSP00000507611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,687 - 102,345,461 (-)Ensembl
RefSeq Acc Id: NM_001135146   ⟹   NP_001128618
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,261,666 - 102,345,482 (-)NCBI
GRCh374103,172,198 - 103,266,655 (-)RGD
Celera4100,470,678 - 100,565,146 (-)RGD
HuRef498,909,550 - 99,003,934 (-)RGD
CHM1_14103,159,336 - 103,243,025 (-)NCBI
T2T-CHM13v2.04105,575,877 - 105,659,701 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001135147   ⟹   NP_001128619
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,251,041 - 102,345,253 (-)NCBI
GRCh374103,172,198 - 103,266,655 (-)RGD
Celera4100,470,678 - 100,565,146 (-)RGD
HuRef498,909,550 - 99,003,934 (-)RGD
CHM1_14103,148,714 - 103,242,780 (-)NCBI
T2T-CHM13v2.04105,565,252 - 105,659,472 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001135148   ⟹   NP_001128620
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,261,666 - 102,324,312 (-)NCBI
GRCh374103,172,198 - 103,266,655 (-)RGD
Celera4100,470,678 - 100,565,146 (-)RGD
HuRef498,909,550 - 99,003,934 (-)RGD
CHM1_14103,159,336 - 103,221,839 (-)NCBI
T2T-CHM13v2.04105,575,877 - 105,638,528 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022154   ⟹   NP_071437
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,261,664 - 102,345,191 (-)NCBI
GRCh374103,172,198 - 103,266,655 (-)RGD
Build 364103,401,844 - 103,485,371 (-)NCBI Archive
Celera4100,470,678 - 100,565,146 (-)RGD
HuRef498,909,550 - 99,003,934 (-)RGD
CHM1_14103,159,336 - 103,242,718 (-)NCBI
T2T-CHM13v2.04105,575,875 - 105,659,410 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008541   ⟹   XP_016864030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,261,664 - 102,344,915 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024454183   ⟹   XP_024309951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,300,950 - 102,345,482 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024454184   ⟹   XP_024309952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,257,358 - 102,345,482 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047416070   ⟹   XP_047272026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,261,664 - 102,345,482 (-)NCBI
RefSeq Acc Id: XM_047416071   ⟹   XP_047272027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,261,664 - 102,307,523 (-)NCBI
RefSeq Acc Id: XM_054350705   ⟹   XP_054206680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04105,575,875 - 105,659,701 (-)NCBI
RefSeq Acc Id: XM_054350706   ⟹   XP_054206681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04105,575,875 - 105,659,134 (-)NCBI
RefSeq Acc Id: XM_054350707   ⟹   XP_054206682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04105,615,167 - 105,659,701 (-)NCBI
RefSeq Acc Id: XM_054350708   ⟹   XP_054206683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04105,575,875 - 105,621,740 (-)NCBI
RefSeq Acc Id: XM_054350709   ⟹   XP_054206684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04105,571,569 - 105,659,701 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001128618 (Get FASTA)   NCBI Sequence Viewer  
  NP_001128619 (Get FASTA)   NCBI Sequence Viewer  
  NP_001128620 (Get FASTA)   NCBI Sequence Viewer  
  NP_071437 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864030 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309951 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309952 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272026 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272027 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206680 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206681 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206682 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206683 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206684 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG22480 (Get FASTA)   NCBI Sequence Viewer  
  AAH01320 (Get FASTA)   NCBI Sequence Viewer  
  AAH12125 (Get FASTA)   NCBI Sequence Viewer  
  BAA96442 (Get FASTA)   NCBI Sequence Viewer  
  BAB21559 (Get FASTA)   NCBI Sequence Viewer  
  BAB55268 (Get FASTA)   NCBI Sequence Viewer  
  BAG65135 (Get FASTA)   NCBI Sequence Viewer  
  EAX06129 (Get FASTA)   NCBI Sequence Viewer  
  EAX06130 (Get FASTA)   NCBI Sequence Viewer  
  EAX06131 (Get FASTA)   NCBI Sequence Viewer  
  EAX06132 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000349174
  ENSP00000349174.4
  ENSP00000378310
  ENSP00000378310.2
  ENSP00000394548.3
  ENSP00000506745.1
  ENSP00000506748.1
  ENSP00000507087.1
  ENSP00000507170.1
  ENSP00000507414.1
  ENSP00000507483.1
  ENSP00000507538.1
  ENSP00000507611
  ENSP00000507611.1
  ENSP00000507952.1
  ENSP00000508032.1
  ENSP00000508093.1
  ENSP00000508106.1
  ENSP00000508363.1
GenBank Protein Q9C0K1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001128619   ⟸   NM_001135147
- Peptide Label: isoform b precursor
- UniProtKB: A0A804HKW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001128618   ⟸   NM_001135146
- Peptide Label: isoform a precursor
- UniProtKB: Q9BVC0 (UniProtKB/Swiss-Prot),   Q96SM9 (UniProtKB/Swiss-Prot),   B4E2H3 (UniProtKB/Swiss-Prot),   Q9NSA4 (UniProtKB/Swiss-Prot),   Q9C0K1 (UniProtKB/Swiss-Prot),   A0A804HKW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_071437   ⟸   NM_022154
- Peptide Label: isoform a precursor
- UniProtKB: Q9BVC0 (UniProtKB/Swiss-Prot),   Q96SM9 (UniProtKB/Swiss-Prot),   B4E2H3 (UniProtKB/Swiss-Prot),   Q9NSA4 (UniProtKB/Swiss-Prot),   Q9C0K1 (UniProtKB/Swiss-Prot),   A0A804HKW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001128620   ⟸   NM_001135148
- Peptide Label: isoform c
- UniProtKB: Q9C0K1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016864030   ⟸   XM_017008541
- Peptide Label: isoform X2
- UniProtKB: Q9C0K1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024309952   ⟸   XM_024454184
- Peptide Label: isoform X5
- UniProtKB: A0A804HKW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309951   ⟸   XM_024454183
- Peptide Label: isoform X3
- UniProtKB: A0A804HJR0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000394548   ⟸   ENST00000424970
Ensembl Acc Id: ENSP00000378310   ⟸   ENST00000394833
Ensembl Acc Id: ENSP00000349174   ⟸   ENST00000356736
Ensembl Acc Id: ENSP00000507611   ⟸   ENST00000684386
Ensembl Acc Id: ENSP00000508032   ⟸   ENST00000683173
Ensembl Acc Id: ENSP00000508093   ⟸   ENST00000683221
Ensembl Acc Id: ENSP00000506748   ⟸   ENST00000684289
Ensembl Acc Id: ENSP00000507538   ⟸   ENST00000683412
Ensembl Acc Id: ENSP00000507414   ⟸   ENST00000682932
Ensembl Acc Id: ENSP00000507952   ⟸   ENST00000682243
Ensembl Acc Id: ENSP00000507170   ⟸   ENST00000683462
Ensembl Acc Id: ENSP00000508363   ⟸   ENST00000682227
Ensembl Acc Id: ENSP00000507087   ⟸   ENST00000683634
Ensembl Acc Id: ENSP00000507483   ⟸   ENST00000682549
Ensembl Acc Id: ENSP00000508106   ⟸   ENST00000683916
Ensembl Acc Id: ENSP00000506745   ⟸   ENST00000683706
RefSeq Acc Id: XP_047272026   ⟸   XM_047416070
- Peptide Label: isoform X1
- UniProtKB: Q9C0K1 (UniProtKB/Swiss-Prot),   Q9BVC0 (UniProtKB/Swiss-Prot),   Q96SM9 (UniProtKB/Swiss-Prot),   B4E2H3 (UniProtKB/Swiss-Prot),   Q9NSA4 (UniProtKB/Swiss-Prot),   A0A804HKW0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272027   ⟸   XM_047416071
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054206684   ⟸   XM_054350709
- Peptide Label: isoform X5
- UniProtKB: A0A804HKW0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054206680   ⟸   XM_054350705
- Peptide Label: isoform X1
- UniProtKB: Q9C0K1 (UniProtKB/Swiss-Prot),   Q9BVC0 (UniProtKB/Swiss-Prot),   Q96SM9 (UniProtKB/Swiss-Prot),   B4E2H3 (UniProtKB/Swiss-Prot),   Q9NSA4 (UniProtKB/Swiss-Prot),   A0A804HKW0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054206681   ⟸   XM_054350706
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054206683   ⟸   XM_054350708
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054206682   ⟸   XM_054350707
- Peptide Label: isoform X3
- UniProtKB: A0A804HJR0 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9C0K1-F1-model_v2 AlphaFold Q9C0K1 1-460 view protein structure

Promoters
RGD ID:6868142
Promoter ID:EPDNEW_H7236
Type:initiation region
Name:SLC39A8_2
Description:solute carrier family 39 member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7237  EPDNEW_H7238  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,345,023 - 102,345,083EPDNEW
RGD ID:6868144
Promoter ID:EPDNEW_H7237
Type:initiation region
Name:SLC39A8_3
Description:solute carrier family 39 member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7236  EPDNEW_H7238  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,345,205 - 102,345,265EPDNEW
RGD ID:6868146
Promoter ID:EPDNEW_H7238
Type:initiation region
Name:SLC39A8_1
Description:solute carrier family 39 member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7236  EPDNEW_H7237  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,345,482 - 102,345,542EPDNEW
RGD ID:6802611
Promoter ID:HG_KWN:48819
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001135146,   NM_001135147,   NM_022154
Position:
Human AssemblyChrPosition (strand)Source
Build 364103,484,746 - 103,485,797 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20862 AgrOrtholog
COSMIC SLC39A8 COSMIC
Ensembl Genes ENSG00000138821 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000356736 ENTREZGENE
  ENST00000356736.5 UniProtKB/Swiss-Prot
  ENST00000394833 ENTREZGENE
  ENST00000394833.6 UniProtKB/Swiss-Prot
  ENST00000424970.7 UniProtKB/TrEMBL
  ENST00000682227.1 UniProtKB/Swiss-Prot
  ENST00000682243.1 UniProtKB/TrEMBL
  ENST00000682549.1 UniProtKB/TrEMBL
  ENST00000682932.1 UniProtKB/Swiss-Prot
  ENST00000683173.1 UniProtKB/TrEMBL
  ENST00000683221.1 UniProtKB/TrEMBL
  ENST00000683401 ENTREZGENE
  ENST00000683412.1 UniProtKB/Swiss-Prot
  ENST00000683462.1 UniProtKB/TrEMBL
  ENST00000683634.1 UniProtKB/TrEMBL
  ENST00000683706.1 UniProtKB/TrEMBL
  ENST00000683916.1 UniProtKB/TrEMBL
  ENST00000684289.1 UniProtKB/TrEMBL
  ENST00000684386 ENTREZGENE
  ENST00000684386.1 UniProtKB/TrEMBL
GTEx ENSG00000138821 GTEx
HGNC ID HGNC:20862 ENTREZGENE
Human Proteome Map SLC39A8 Human Proteome Map
InterPro ZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZIP_Transporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64116 UniProtKB/Swiss-Prot
NCBI Gene 64116 ENTREZGENE
OMIM 608732 OMIM
PANTHER METAL CATION SYMPORTER ZIP8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOLUTE CARRIER FAMILY 39 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Zip UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134931507 PharmGKB
UniProt A0A804HHS9_HUMAN UniProtKB/TrEMBL
  A0A804HHT0_HUMAN UniProtKB/TrEMBL
  A0A804HJR0 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKQ9_HUMAN UniProtKB/TrEMBL
  A0A804HKW0 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKX2_HUMAN UniProtKB/TrEMBL
  B4E2H3 ENTREZGENE
  Q96SM9 ENTREZGENE
  Q9BVC0 ENTREZGENE
  Q9C0K1 ENTREZGENE
  Q9NSA4 ENTREZGENE
  S39A8_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4E2H3 UniProtKB/Swiss-Prot
  Q96SM9 UniProtKB/Swiss-Prot
  Q9BVC0 UniProtKB/Swiss-Prot
  Q9NSA4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC39A8  solute carrier family 39 member 8  SLC39A8  solute carrier family 39 (zinc transporter), member 8  Symbol and/or name change 5135510 APPROVED