SLC12A4 (solute carrier family 12 member 4) - Rat Genome Database

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Gene: SLC12A4 (solute carrier family 12 member 4) Homo sapiens
Analyze
Symbol: SLC12A4
Name: solute carrier family 12 member 4
RGD ID: 736767
HGNC Page HGNC:10913
Description: Enables ATP binding activity; potassium:chloride symporter activity; and protein kinase binding activity. Predicted to be involved in several processes, including chloride ion homeostasis; monoatomic ion transmembrane transport; and potassium ion homeostasis. Located in lysosomal membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CTC-479C5.17; electroneutral potassium-chloride cotransporter 1; erythroid K-Cl cotransporter 1; erythroid K:Cl cotransporter; FLJ17069; FLJ40489; hKCC1; K-Cl cotransporter; KCC1; potassium/chloride cotransporter 1; solute carrier family 12 (potassium/chloride transporter), member 4; solute carrier family 12 (potassium/chloride transporters), member 4; solute carrier family 12, member 4
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
GRCh381667,943,474 - 67,968,694 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1667,943,474 - 67,969,601 (-)EnsemblGRCh38hg38GRCh38
GRCh371667,977,377 - 68,002,597 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361666,535,731 - 66,560,026 (-)NCBINCBI36Build 36hg18NCBI36
Build 341666,535,730 - 66,560,026NCBI
Celera1652,485,834 - 52,511,054 (-)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1653,850,947 - 53,876,165 (-)NCBIHuRef
CHM1_11669,385,448 - 69,410,667 (-)NCBICHM1_1
T2T-CHM13v2.01673,739,247 - 73,764,467 (-)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
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amiloride  (ISO)
ammonium chloride  (ISO)
arsenite(3-)  (ISO)
Azoxymethane  (ISO)
barium(0)  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
caffeine  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
coumestrol  (EXP)
Cuprizon  (ISO)
dextran sulfate  (ISO)
diazinon  (ISO)
Dibutyl phosphate  (EXP)
dieldrin  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
Enterolactone  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
folic acid  (ISO)
FR900359  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
magnesium atom  (ISO)
methotrexate  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
nickel dichloride  (ISO)
orphenadrine  (ISO)
ozone  (EXP)
paracetamol  (ISO)
potassium atom  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
sodium arsenite  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
valproic acid  (EXP)
zidovudine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
lysosomal membrane  (HDA)
membrane  (IEA,TAS)
plasma membrane  (IBA,IEA,ISS,TAS)
synapse  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Molecular cloning and functional expression of the K-Cl cotransporter from rabbit, rat, and human. A new member of the cation-chloride cotransporter family. Gillen CM, etal., J Biol Chem 1996 Jul 5;271(27):16237-44.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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:8268911   PMID:9516379   PMID:10564083   PMID:11551954   PMID:12477932   PMID:12637262   PMID:12739168   PMID:12902337   PMID:14702039   PMID:14976052   PMID:15039017   PMID:15231748  
PMID:15262997   PMID:15489334   PMID:16943364   PMID:17897319   PMID:18391953   PMID:19317253   PMID:19913121   PMID:20602615   PMID:20628086   PMID:21613606   PMID:21666489   PMID:21733850  
PMID:21873635   PMID:22810586   PMID:22939629   PMID:23177987   PMID:23503679   PMID:24393035   PMID:25056061   PMID:26186194   PMID:26344197   PMID:26514267   PMID:26638075   PMID:26760575  
PMID:27880917   PMID:28093242   PMID:28514442   PMID:28986522   PMID:29117863   PMID:29568061   PMID:29872149   PMID:30442766   PMID:30471916   PMID:30639242   PMID:31056421   PMID:31296230  
PMID:31871319   PMID:32296183   PMID:32694731   PMID:33087821   PMID:33845483   PMID:33961781   PMID:34031912   PMID:34079125   PMID:34315543   PMID:34432599   PMID:34709727   PMID:35337019  
PMID:35575683   PMID:35748872   PMID:35759661   PMID:35906200   PMID:35944360   PMID:36215168   PMID:37478010   PMID:37689310   PMID:37774976   PMID:38117590   PMID:38569033   PMID:38878854  


Genomics

Comparative Map Data
SLC12A4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381667,943,474 - 67,968,694 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1667,943,474 - 67,969,601 (-)EnsemblGRCh38hg38GRCh38
GRCh371667,977,377 - 68,002,597 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361666,535,731 - 66,560,026 (-)NCBINCBI36Build 36hg18NCBI36
Build 341666,535,730 - 66,560,026NCBI
Celera1652,485,834 - 52,511,054 (-)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1653,850,947 - 53,876,165 (-)NCBIHuRef
CHM1_11669,385,448 - 69,410,667 (-)NCBICHM1_1
T2T-CHM13v2.01673,739,247 - 73,764,467 (-)NCBIT2T-CHM13v2.0
Slc12a4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398106,670,222 - 106,692,781 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8106,670,222 - 106,692,729 (-)EnsemblGRCm39 Ensembl
GRCm388105,943,590 - 105,966,149 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8105,943,590 - 105,966,097 (-)EnsemblGRCm38mm10GRCm38
MGSCv378108,467,493 - 108,489,939 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368108,832,722 - 108,855,168 (-)NCBIMGSCv36mm8
Celera8110,171,642 - 110,194,085 (-)NCBICelera
Cytogenetic Map8D3NCBI
cM Map853.06NCBI
Slc12a4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81950,748,268 - 50,770,217 (-)NCBIGRCr8
mRatBN7.21933,838,418 - 33,860,369 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1933,838,419 - 33,860,331 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1940,653,965 - 40,675,808 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01941,307,280 - 41,329,122 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01943,605,822 - 43,627,712 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01937,917,003 - 37,938,952 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1937,917,014 - 37,938,857 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01948,784,035 - 48,805,888 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41935,785,181 - 35,807,024 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11935,790,067 - 35,811,905 (-)NCBI
Celera1933,265,978 - 33,287,821 (-)NCBICelera
Cytogenetic Map19q12NCBI
Slc12a4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554848,749,194 - 8,772,599 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554848,749,194 - 8,772,599 (+)NCBIChiLan1.0ChiLan1.0
SLC12A4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21877,470,550 - 77,494,899 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11683,381,969 - 83,406,307 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01648,285,265 - 48,309,614 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11667,673,087 - 67,698,223 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1667,673,087 - 67,697,280 (-)Ensemblpanpan1.1panPan2
SLC12A4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1581,533,491 - 81,555,901 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl581,533,470 - 81,559,313 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha581,523,512 - 81,545,458 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0581,968,814 - 81,991,227 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl581,968,753 - 81,994,636 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1581,795,063 - 81,817,008 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0581,477,196 - 81,499,140 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0582,119,391 - 82,141,353 (+)NCBIUU_Cfam_GSD_1.0
Slc12a4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934941,269,207 - 41,291,720 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647518,297,394 - 18,321,892 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647518,297,394 - 18,319,191 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC12A4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl628,553,616 - 28,576,504 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1628,554,162 - 28,576,458 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2626,043,412 - 26,056,523 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC12A4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1559,472,831 - 59,495,690 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl559,472,874 - 59,495,669 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604722,198,442 - 22,221,522 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc12a4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474618,414,520 - 18,441,806 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474618,414,589 - 18,438,278 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC12A4
114 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1 copy number loss See cases [RCV000053335] Chr16:64311275..68062011 [GRCh38]
Chr16:64345179..68095914 [GRCh37]
Chr16:62902680..66653415 [NCBI36]
Chr16:16q21-22.1		 pathogenic
NM_000229.2(LCAT):c.101C>T (p.Pro34Leu) single nucleotide variant Fish-eye disease [RCV000003847]|Fish-eye disease [RCV002504740] Chr16:67944001 [GRCh38]
Chr16:67977904 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_000229.1(LCAT):c.1231C>T (p.Leu411=) single nucleotide variant Malignant melanoma [RCV000071188] Chr16:67939996 [GRCh38]
Chr16:67973899 [GRCh37]
Chr16:66531400 [NCBI36]
Chr16:16q22.1		 not provided
NM_000229.1(LCAT):c.1230C>T (p.Thr410=) single nucleotide variant Malignant melanoma [RCV000071189] Chr16:67939997 [GRCh38]
Chr16:67973900 [GRCh37]
Chr16:66531401 [NCBI36]
Chr16:16q22.1		 not provided
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1 copy number loss See cases [RCV000449234] Chr16:67654566..68404073 [GRCh37]
Chr16:16q22.1		 likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_005072.5(SLC12A4):c.2116G>A (p.Val706Met) single nucleotide variant not specified [RCV004331569] Chr16:67947062 [GRCh38]
Chr16:67980965 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2447G>T (p.Arg816Leu) single nucleotide variant not specified [RCV004318978] Chr16:67946331 [GRCh38]
Chr16:67980234 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.57C>T (p.Asn19=) single nucleotide variant not specified [RCV004302783] Chr16:67968497 [GRCh38]
Chr16:68002400 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1249G>A (p.Ala417Thr) single nucleotide variant not specified [RCV004286459] Chr16:67951188 [GRCh38]
Chr16:67985091 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_005072.5(SLC12A4):c.3221G>A (p.Arg1074His) single nucleotide variant not specified [RCV004319665] Chr16:67944877 [GRCh38]
Chr16:67978780 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 copy number loss not provided [RCV001006797] Chr16:65669673..70180183 [GRCh37]
Chr16:16q21-22.1		 pathogenic
NM_000229.2(LCAT):c.102G>A (p.Pro34=) single nucleotide variant Cardiovascular phenotype [RCV002382049]|not provided [RCV000899873] Chr16:67944000 [GRCh38]
Chr16:67977903 [GRCh37]
Chr16:16q22.1		 likely benign
GRCh37/hg19 16q22.1(chr16:67132790-68166320) copy number loss not provided [RCV000767617] Chr16:67132790..68166320 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_005072.5(SLC12A4):c.761A>T (p.Tyr254Phe) single nucleotide variant not specified [RCV004318189] Chr16:67952340 [GRCh38]
Chr16:67986243 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_000229.2(LCAT):c.10C>T (p.Pro4Ser) single nucleotide variant Cardiovascular phenotype [RCV004291589] Chr16:67944092 [GRCh38]
Chr16:67977995 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.*1361A>G single nucleotide variant not provided [RCV001598806] Chr16:67943479 [GRCh38]
Chr16:67943479..67943480 [GRCh38]
Chr16:67977382 [GRCh37]
Chr16:67977382..67977383 [GRCh37]
Chr16:16q22.1		 benign
NC_000016.10:g.67944124A>G single nucleotide variant not provided [RCV001556503] Chr16:67944124 [GRCh38]
Chr16:67978027 [GRCh37]
Chr16:16q22.1		 likely benign
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_000229.2(LCAT):c.154+155T>G single nucleotide variant not provided [RCV001695853] Chr16:67943793 [GRCh38]
Chr16:67977696 [GRCh37]
Chr16:16q22.1		 benign
GRCh37/hg19 16q22.1(chr16:67765964-68246270)x1 copy number loss not provided [RCV001259860] Chr16:67765964..68246270 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_000229.2(LCAT):c.101dup (p.His35fs) duplication Cardiovascular phenotype [RCV002362554]|LCAT deficiency [RCV000003846]|not provided [RCV003555909] Chr16:67944000..67944001 [GRCh38]
Chr16:67977903..67977904 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_000229.2(LCAT):c.110C>T (p.Thr37Met) single nucleotide variant Cardiovascular phenotype [RCV002458885]|Fish-eye disease [RCV002479585]|not provided [RCV001946938] Chr16:67943992 [GRCh38]
Chr16:67977895 [GRCh37]
Chr16:16q22.1		 pathogenic|likely pathogenic|uncertain significance
NM_000229.2(LCAT):c.35C>T (p.Thr12Met) single nucleotide variant Fish-eye disease [RCV002468342]|not provided [RCV002033242] Chr16:67944067 [GRCh38]
Chr16:67977970 [GRCh37]
Chr16:16q22.1		 uncertain significance
NC_000016.9:g.(?_66545871)_(72146396_?)dup duplication Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]|Immunodeficiency [RCV001900385]|not provided [RCV001900386] Chr16:66545871..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NC_000016.9:g.(?_65821800)_(72146396_?)del deletion Dyskeratosis congenita, autosomal dominant 6 [RCV003122496] Chr16:65821800..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
NM_000229.2(LCAT):c.36G>A (p.Thr12=) single nucleotide variant Cardiovascular phenotype [RCV002348912] Chr16:67944066 [GRCh38]
Chr16:67977969 [GRCh37]
Chr16:16q22.1		 likely benign
NM_000229.2(LCAT):c.66C>T (p.Ala22=) single nucleotide variant Cardiovascular phenotype [RCV002367135] Chr16:67944036 [GRCh38]
Chr16:67977939 [GRCh37]
Chr16:16q22.1		 likely benign
NM_005072.5(SLC12A4):c.784A>G (p.Met262Val) single nucleotide variant not specified [RCV004321988] Chr16:67952317 [GRCh38]
Chr16:67986220 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.31G>C (p.Gly11Arg) single nucleotide variant not specified [RCV004326761] Chr16:67968523 [GRCh38]
Chr16:68002426 [GRCh37]
Chr16:16q22.1		 likely benign
NM_000229.2(LCAT):c.72C>G (p.Pro24=) single nucleotide variant Cardiovascular phenotype [RCV002382758] Chr16:67944030 [GRCh38]
Chr16:67977933 [GRCh37]
Chr16:16q22.1		 likely benign
NM_000229.2(LCAT):c.93C>T (p.Leu31=) single nucleotide variant Cardiovascular phenotype [RCV002373912] Chr16:67944009 [GRCh38]
Chr16:67977912 [GRCh37]
Chr16:16q22.1		 likely benign
NM_000229.2(LCAT):c.18C>A (p.Ser6=) single nucleotide variant Cardiovascular phenotype [RCV002408216] Chr16:67944084 [GRCh38]
Chr16:67977987 [GRCh37]
Chr16:16q22.1		 likely benign
NM_000229.2(LCAT):c.136A>T (p.Thr46Ser) single nucleotide variant Cardiovascular phenotype [RCV002383664] Chr16:67943966 [GRCh38]
Chr16:67977869 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_000229.2(LCAT):c.116A>G (p.Lys39Arg) single nucleotide variant Cardiovascular phenotype [RCV002329867] Chr16:67943986 [GRCh38]
Chr16:67977889 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_000229.2(LCAT):c.12C>T (p.Pro4=) single nucleotide variant Cardiovascular phenotype [RCV002380798] Chr16:67944090 [GRCh38]
Chr16:67977993 [GRCh37]
Chr16:16q22.1		 likely benign
NM_000229.2(LCAT):c.75C>T (p.Phe25=) single nucleotide variant Cardiovascular phenotype [RCV002394232] Chr16:67944027 [GRCh38]
Chr16:67977930 [GRCh37]
Chr16:16q22.1		 likely benign
NM_000229.2(LCAT):c.8C>T (p.Pro3Leu) single nucleotide variant Cardiovascular phenotype [RCV002376346]|not provided [RCV003103552] Chr16:67944094 [GRCh38]
Chr16:67977997 [GRCh37]
Chr16:16q22.1		 likely benign|uncertain significance
NM_000229.2(LCAT):c.67G>A (p.Ala23Thr) single nucleotide variant Cardiovascular phenotype [RCV002369481] Chr16:67944035 [GRCh38]
Chr16:67977938 [GRCh37]
Chr16:16q22.1		 likely benign
NM_000229.2(LCAT):c.114C>G (p.Pro38=) single nucleotide variant Cardiovascular phenotype [RCV002346618] Chr16:67943988 [GRCh38]
Chr16:67977891 [GRCh37]
Chr16:16q22.1		 likely benign
NM_005072.5(SLC12A4):c.-65G>A single nucleotide variant not specified [RCV004603337] Chr16:67968618 [GRCh38]
Chr16:68002521 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2567G>A (p.Gly856Asp) single nucleotide variant not specified [RCV004164206] Chr16:67946211 [GRCh38]
Chr16:67980114 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1627C>T (p.Arg543Trp) single nucleotide variant not specified [RCV004181040] Chr16:67950321 [GRCh38]
Chr16:67984224 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.393T>A (p.Asn131Lys) single nucleotide variant not specified [RCV004222999] Chr16:67957994 [GRCh38]
Chr16:67991897 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2399G>A (p.Arg800Gln) single nucleotide variant not specified [RCV004144786] Chr16:67946476 [GRCh38]
Chr16:67980379 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2837G>A (p.Arg946Gln) single nucleotide variant not specified [RCV004075904] Chr16:67945774 [GRCh38]
Chr16:67979677 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1933G>A (p.Ala645Thr) single nucleotide variant not specified [RCV004087449] Chr16:67947703 [GRCh38]
Chr16:67981606 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2443G>A (p.Val815Met) single nucleotide variant not specified [RCV004197271] Chr16:67946335 [GRCh38]
Chr16:67980238 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2882G>A (p.Arg961Gln) single nucleotide variant not specified [RCV004202712] Chr16:67945519 [GRCh38]
Chr16:67979422 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1171G>A (p.Val391Met) single nucleotide variant not specified [RCV004233841] Chr16:67951266 [GRCh38]
Chr16:67985169 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1726A>G (p.Met576Val) single nucleotide variant not specified [RCV004223785] Chr16:67949822 [GRCh38]
Chr16:67983725 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1972G>A (p.Glu658Lys) single nucleotide variant not specified [RCV004231173] Chr16:67947431 [GRCh38]
Chr16:67981334 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.532G>A (p.Gly178Ser) single nucleotide variant not specified [RCV004099876] Chr16:67957754 [GRCh38]
Chr16:67991657 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2036G>A (p.Arg679Gln) single nucleotide variant not specified [RCV004140433] Chr16:67947367 [GRCh38]
Chr16:67981270 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.3232C>T (p.Arg1078Cys) single nucleotide variant not specified [RCV004215437] Chr16:67944866 [GRCh38]
Chr16:67978769 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_000229.2(LCAT):c.154+15G>A single nucleotide variant not provided [RCV002667025] Chr16:67943933 [GRCh38]
Chr16:67977836 [GRCh37]
Chr16:16q22.1		 likely benign
NM_005072.5(SLC12A4):c.2623C>T (p.Arg875Trp) single nucleotide variant not specified [RCV004215654] Chr16:67946067 [GRCh38]
Chr16:67979970 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2597G>A (p.Arg866His) single nucleotide variant not specified [RCV004243934] Chr16:67946181 [GRCh38]
Chr16:67980084 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2900C>T (p.Ser967Leu) single nucleotide variant not specified [RCV004095979] Chr16:67945501 [GRCh38]
Chr16:67979404 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1318C>T (p.Arg440Cys) single nucleotide variant not specified [RCV004206037] Chr16:67951040 [GRCh38]
Chr16:67984943 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2440A>G (p.Thr814Ala) single nucleotide variant not specified [RCV004175715] Chr16:67946338 [GRCh38]
Chr16:67980241 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_000229.2(LCAT):c.107C>T (p.Thr36Ile) single nucleotide variant not provided [RCV002626912] Chr16:67943995 [GRCh38]
Chr16:67977898 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.724G>A (p.Asp242Asn) single nucleotide variant not specified [RCV004079849] Chr16:67952377 [GRCh38]
Chr16:67986280 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2873C>T (p.Ser958Leu) single nucleotide variant not specified [RCV004071151] Chr16:67945528 [GRCh38]
Chr16:67979431 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2495C>T (p.Ala832Val) single nucleotide variant not specified [RCV004177316] Chr16:67946283 [GRCh38]
Chr16:67980186 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_000229.2(LCAT):c.13G>A (p.Gly5Ser) single nucleotide variant Cardiovascular phenotype [RCV004066859]|not provided [RCV002676247] Chr16:67944089 [GRCh38]
Chr16:67977992 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.66G>T (p.Gly22=) single nucleotide variant not specified [RCV004148843] Chr16:67968488 [GRCh38]
Chr16:68002391 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.3206G>A (p.Arg1069Gln) single nucleotide variant not specified [RCV004081295] Chr16:67944892 [GRCh38]
Chr16:67978795 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1430T>C (p.Ile477Thr) single nucleotide variant not specified [RCV004198058] Chr16:67950678 [GRCh38]
Chr16:67984581 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2905G>A (p.Glu969Lys) single nucleotide variant not specified [RCV004180380] Chr16:67945496 [GRCh38]
Chr16:67979399 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_000229.2(LCAT):c.23G>A (p.Trp8Ter) single nucleotide variant not provided [RCV002717215] Chr16:67944079 [GRCh38]
Chr16:67977982 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_005072.5(SLC12A4):c.-22G>T single nucleotide variant not specified [RCV004141023] Chr16:67968575 [GRCh38]
Chr16:68002478 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1384A>G (p.Thr462Ala) single nucleotide variant not specified [RCV004283746] Chr16:67950974 [GRCh38]
Chr16:67984877 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.463C>T (p.Leu155Phe) single nucleotide variant not specified [RCV004277739] Chr16:67957924 [GRCh38]
Chr16:67991827 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.325C>T (p.Arg109Cys) single nucleotide variant not specified [RCV004249497] Chr16:67961592 [GRCh38]
Chr16:67995495 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2777C>T (p.Thr926Met) single nucleotide variant not specified [RCV004263471] Chr16:67945834 [GRCh38]
Chr16:67979737 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.728C>T (p.Thr243Met) single nucleotide variant not specified [RCV004251502] Chr16:67952373 [GRCh38]
Chr16:67986276 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2035C>T (p.Arg679Trp) single nucleotide variant not specified [RCV004276497] Chr16:67947368 [GRCh38]
Chr16:67981271 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2134C>T (p.Leu712Phe) single nucleotide variant not specified [RCV004264784] Chr16:67947044 [GRCh38]
Chr16:67980947 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2798C>T (p.Ser933Leu) single nucleotide variant not specified [RCV004253512] Chr16:67945813 [GRCh38]
Chr16:67979716 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2021G>A (p.Arg674His) single nucleotide variant not specified [RCV004273993] Chr16:67947382 [GRCh38]
Chr16:67981285 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.911T>C (p.Val304Ala) single nucleotide variant not specified [RCV004264423] Chr16:67952190 [GRCh38]
Chr16:67986093 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.3050G>A (p.Arg1017Gln) single nucleotide variant not specified [RCV004254571] Chr16:67945203 [GRCh38]
Chr16:67979106 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2027C>T (p.Ala676Val) single nucleotide variant not specified [RCV004256134] Chr16:67947376 [GRCh38]
Chr16:67981279 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.3011G>A (p.Arg1004Gln) single nucleotide variant not specified [RCV004257816] Chr16:67945390 [GRCh38]
Chr16:67979293 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2537T>C (p.Ile846Thr) single nucleotide variant not specified [RCV004248474] Chr16:67946241 [GRCh38]
Chr16:67980144 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_000229.2(LCAT):c.118G>C (p.Ala40Pro) single nucleotide variant Cardiovascular phenotype [RCV003339161] Chr16:67943984 [GRCh38]
Chr16:67977887 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1583G>A (p.Arg528His) single nucleotide variant not specified [RCV004334346] Chr16:67950365 [GRCh38]
Chr16:67984268 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.469G>A (p.Val157Met) single nucleotide variant not specified [RCV004363466] Chr16:67957918 [GRCh38]
Chr16:67991821 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.3001G>T (p.Asp1001Tyr) single nucleotide variant not provided [RCV004696489]|not specified [RCV004341134] Chr16:67945400 [GRCh38]
Chr16:67979303 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.340G>A (p.Glu114Lys) single nucleotide variant not specified [RCV004344118] Chr16:67961577 [GRCh38]
Chr16:67995480 [GRCh37]
Chr16:16q22.1		 likely benign
GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3 copy number gain not provided [RCV003485117] Chr16:67498380..68754276 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2409G>A (p.Glu803=) single nucleotide variant not provided [RCV003419380] Chr16:67946466 [GRCh38]
Chr16:67980369 [GRCh37]
Chr16:16q22.1		 likely benign
NM_000229.2(LCAT):c.144C>T (p.Pro48=) single nucleotide variant not provided [RCV003876966] Chr16:67943958 [GRCh38]
Chr16:67977861 [GRCh37]
Chr16:16q22.1		 likely benign
GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3 copy number gain not specified [RCV003987175] Chr16:67583728..69977397 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_000229.2(LCAT):c.145G>A (p.Val49Ile) single nucleotide variant Cardiovascular phenotype [RCV004522814] Chr16:67943957 [GRCh38]
Chr16:67977860 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_000229.2(LCAT):c.93C>G (p.Leu31=) single nucleotide variant Cardiovascular phenotype [RCV004522823] Chr16:67944009 [GRCh38]
Chr16:67977912 [GRCh37]
Chr16:16q22.1		 likely benign
NM_005072.5(SLC12A4):c.2795G>A (p.Arg932Gln) single nucleotide variant not specified [RCV004456259] Chr16:67945816 [GRCh38]
Chr16:67979719 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.-31A>T single nucleotide variant not specified [RCV004456264] Chr16:67968584 [GRCh38]
Chr16:68002487 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.84C>T (p.Tyr28=) single nucleotide variant not specified [RCV004456254] Chr16:67968470 [GRCh38]
Chr16:68002373 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.686C>T (p.Ala229Val) single nucleotide variant not specified [RCV004456262] Chr16:67952415 [GRCh38]
Chr16:67986318 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.323C>G (p.Thr108Ser) single nucleotide variant not specified [RCV004456261] Chr16:67961594 [GRCh38]
Chr16:67995497 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1052A>G (p.Asp351Gly) single nucleotide variant not specified [RCV004456249] Chr16:67951903 [GRCh38]
Chr16:67985806 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2810G>A (p.Arg937Gln) single nucleotide variant not specified [RCV004456260] Chr16:67945801 [GRCh38]
Chr16:67979704 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1447C>T (p.Arg483Trp) single nucleotide variant not specified [RCV004456252] Chr16:67950661 [GRCh38]
Chr16:67984564 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2363A>C (p.His788Pro) single nucleotide variant not specified [RCV004456255] Chr16:67946512 [GRCh38]
Chr16:67980415 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2494G>A (p.Ala832Thr) single nucleotide variant not specified [RCV004456256] Chr16:67946284 [GRCh38]
Chr16:67980187 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2773C>T (p.Arg925Trp) single nucleotide variant not specified [RCV004456258] Chr16:67945838 [GRCh38]
Chr16:67979741 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1147G>A (p.Ala383Thr) single nucleotide variant not specified [RCV004456250] Chr16:67951290 [GRCh38]
Chr16:67985193 [GRCh37]
Chr16:16q22.1		 likely benign
NM_005072.5(SLC12A4):c.1393G>C (p.Val465Leu) single nucleotide variant not specified [RCV004456251] Chr16:67950965 [GRCh38]
Chr16:67984868 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1558C>T (p.Leu520Phe) single nucleotide variant not specified [RCV004456253] Chr16:67950390 [GRCh38]
Chr16:67984293 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.713C>T (p.Ser238Leu) single nucleotide variant not specified [RCV004456263] Chr16:67952388 [GRCh38]
Chr16:67986291 [GRCh37]
Chr16:16q22.1		 likely benign
NM_000229.2(LCAT):c.111G>A (p.Thr37=) single nucleotide variant Cardiovascular phenotype [RCV004642161] Chr16:67943991 [GRCh38]
Chr16:67977894 [GRCh37]
Chr16:16q22.1		 likely benign
NC_000016.9:g.(?_48799549)_(70756330_?)dup duplication Chromosome 16q12 duplication syndrome [RCV004595820] Chr16:48799549..70756330 [GRCh37]
Chr16:16q12.1-22.1		 likely pathogenic
NM_005072.5(SLC12A4):c.1780C>T (p.Leu594Phe) single nucleotide variant not specified [RCV004670055] Chr16:67948128 [GRCh38]
Chr16:67982031 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.731C>T (p.Ser244Leu) single nucleotide variant not specified [RCV004670057] Chr16:67952370 [GRCh38]
Chr16:67986273 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1273G>A (p.Gly425Ser) single nucleotide variant not specified [RCV004670058] Chr16:67951164 [GRCh38]
Chr16:67985067 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2624G>A (p.Arg875Gln) single nucleotide variant not specified [RCV004670059] Chr16:67946066 [GRCh38]
Chr16:67979969 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2969T>C (p.Met990Thr) single nucleotide variant not specified [RCV004670060] Chr16:67945432 [GRCh38]
Chr16:67979335 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2271G>C (p.Lys757Asn) single nucleotide variant not specified [RCV004670062] Chr16:67946604 [GRCh38]
Chr16:67980507 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.1418T>C (p.Phe473Ser) single nucleotide variant not specified [RCV004670063] Chr16:67950690 [GRCh38]
Chr16:67984593 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2940C>G (p.Ile980Met) single nucleotide variant not specified [RCV004670064] Chr16:67945461 [GRCh38]
Chr16:67979364 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2723T>C (p.Val908Ala) single nucleotide variant not specified [RCV004676501] Chr16:67945967 [GRCh38]
Chr16:67979870 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.2578C>T (p.Leu860Phe) single nucleotide variant not specified [RCV004676502] Chr16:67946200 [GRCh38]
Chr16:67980103 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_005072.5(SLC12A4):c.3037C>A (p.Gln1013Lys) single nucleotide variant not specified [RCV004670061] Chr16:67945216 [GRCh38]
Chr16:67979119 [GRCh37]
Chr16:16q22.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6797
Count of miRNA genes:1129
Interacting mature miRNAs:1471
Transcripts:ENST00000316341, ENST00000338335, ENST00000422611, ENST00000537830, ENST00000541864, ENST00000570616, ENST00000570802, ENST00000571299, ENST00000572010, ENST00000572037, ENST00000572476, ENST00000572766, ENST00000573023, ENST00000573702, ENST00000574665, ENST00000575857, ENST00000576377, ENST00000576462, ENST00000576513, ENST00000576616
Prediction methods:Microtar, Miranda, 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
597371227GWAS1467301_HBMI-adjusted waist circumference QTL GWAS1467301 (human)3e-19body size trait (VT:0100005)166795090167950902Human
597152343GWAS1248417_Hvery low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS1248417 (human)2e-10blood VLDL cholesterol amount (VT:0005144)blood very low density lipoprotein cholesterol level (CMO:0000648)166795180367951804Human
406962880GWAS611856_Hhigh density lipoprotein cholesterol measurement QTL GWAS611856 (human)3e-57high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)166795180367951804Human
597617693GWAS1674553_Htotal cholesterol measurement QTL GWAS1674553 (human)4e-22total cholesterol measurementblood total cholesterol level (CMO:0000051)166795607367956074Human
597154321GWAS1250395_Hvery low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1250395 (human)5e-11very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)166795180367951804Human
597516763GWAS1612837_Htriglycerides to total lipids in large VLDL percentage QTL GWAS1612837 (human)7e-10blood VLDL triglyceride amount (VT:0010700)166796401767964018Human
597320605GWAS1416679_Hhigh density lipoprotein cholesterol measurement QTL GWAS1416679 (human)2e-12high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)166796531267965313Human
597202579GWAS1298653_Hlean body mass QTL GWAS1298653 (human)6e-13body lean mass (VT:0010483)total body lean mass (CMO:0003950)166795806967958070Human
596971609GWAS1091128_Hglomerular filtration rate, bipolar disorder QTL GWAS1091128 (human)8e-11glomerular filtration rate, bipolar disorderglomerular filtration rate (CMO:0000490)166795068667950687Human
597449042GWAS1545116_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS1545116 (human)5e-11triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)166796401767964018Human
597169238GWAS1265312_Hhigh density lipoprotein cholesterol measurement QTL GWAS1265312 (human)3e-22high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)166796531267965313Human
597291913GWAS1387987_HAstigmatism, refractive error measurement QTL GWAS1387987 (human)8e-10Astigmatism, refractive error measurement166795974067959741Human
597123713GWAS1219787_Hhigh density lipoprotein cholesterol measurement QTL GWAS1219787 (human)2e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)166795180367951804Human
597142926GWAS1239000_Hhigh density lipoprotein cholesterol measurement QTL GWAS1239000 (human)2e-13high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)166795607367956074Human
597466309GWAS1562383_Hhigh density lipoprotein cholesterol measurement QTL GWAS1562383 (human)9e-37high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)166796401767964018Human
597466310GWAS1562384_Hhigh density lipoprotein cholesterol measurement QTL GWAS1562384 (human)0.000004high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)166796401767964018Human
597466311GWAS1562385_Hhigh density lipoprotein cholesterol measurement QTL GWAS1562385 (human)5e-44high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)166796401767964018Human
597042440GWAS1138514_Happendicular lean mass QTL GWAS1138514 (human)2e-09appendicular lean mass166795806967958070Human
596955659GWAS1075178_HAstigmatism, refractive error measurement QTL GWAS1075178 (human)8e-10Astigmatism, refractive error measurement166795974067959741Human
597322617GWAS1418691_Hhigh density lipoprotein cholesterol measurement QTL GWAS1418691 (human)5e-300high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)166795180367951804Human
597289277GWAS1385351_Hglomerular filtration rate, bipolar disorder QTL GWAS1385351 (human)8e-11glomerular filtration rate, bipolar disorderglomerular filtration rate (CMO:0000490)166795068667950687Human
597363133GWAS1459207_Hhigh density lipoprotein cholesterol measurement QTL GWAS1459207 (human)3e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)166794347967943480Human
597431093GWAS1527167_Herythrocyte count QTL GWAS1527167 (human)1e-15erythrocyte countred blood cell count (CMO:0000025)166794347967943480Human
597472439GWAS1568513_Hmean corpuscular volume QTL GWAS1568513 (human)2e-32mean corpuscular volumemean corpuscular volume (CMO:0000038)166794347967943480Human
597439415GWAS1535489_Htotal cholesterol measurement QTL GWAS1535489 (human)0.000002total cholesterol measurementblood total cholesterol level (CMO:0000051)166796401767964018Human
597442353GWAS1538427_Hvery low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS1538427 (human)4e-08very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)166796401767964018Human
597285293GWAS1381367_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1381367 (human)4e-14cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)166795180367951804Human
597176046GWAS1272120_Hphospholipids:total lipids ratio QTL GWAS1272120 (human)2e-15phospholipids:total lipids ratio166795180367951804Human
597286830GWAS1382904_Hhigh density lipoprotein cholesterol measurement QTL GWAS1382904 (human)1e-83high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)166795180367951804Human
597362787GWAS1458861_Hhigh density lipoprotein cholesterol measurement QTL GWAS1458861 (human)4e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)166794347967943480Human
597110572GWAS1206646_Hmathematical ability QTL GWAS1206646 (human)1e-14mathematical ability166795562067955621Human

Markers in Region
RH79953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,979,037 - 67,979,419UniSTSGRCh37
Build 361666,536,538 - 66,536,920RGDNCBI36
Celera1652,487,494 - 52,487,876RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,852,607 - 53,852,989UniSTS
RH70676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,978,507 - 67,978,691UniSTSGRCh37
Build 361666,536,008 - 66,536,192RGDNCBI36
Celera1652,486,964 - 52,487,148RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,852,077 - 53,852,261UniSTS
GeneMap99-GB4 RH Map16408.75UniSTS
NCBI RH Map16508.6UniSTS
SLC12A4_2007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,978,050 - 67,978,767UniSTSGRCh37
Build 361666,535,551 - 66,536,268RGDNCBI36
Celera1652,486,507 - 52,487,224RGD
HuRef1653,851,620 - 53,852,337UniSTS
RH77895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,980,401 - 67,980,543UniSTSGRCh37
Build 361666,537,902 - 66,538,044RGDNCBI36
Celera1652,488,858 - 52,489,000RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,853,970 - 53,854,112UniSTS
GeneMap99-GB4 RH Map16407.22UniSTS
NCBI RH Map16508.6UniSTS
RH44404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,981,569 - 67,981,988UniSTSGRCh37
Build 361666,539,070 - 66,539,489RGDNCBI36
Celera1652,490,026 - 52,490,445RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,855,138 - 53,855,557UniSTS
GeneMap99-GB4 RH Map16405.38UniSTS
NCBI RH Map16508.6UniSTS
SLC12A4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,980,950 - 67,981,260UniSTSGRCh37
Celera1652,489,407 - 52,489,717UniSTS
HuRef1653,854,519 - 53,854,829UniSTS
D7S3207  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
ksks15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,978,803 - 67,979,287UniSTSGRCh37
Celera1652,487,260 - 52,487,744UniSTS
HuRef1653,852,373 - 53,852,857UniSTS
RH70236  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
GeneMap99-GB4 RH Map16405.05UniSTS
NCBI RH Map16508.6UniSTS


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 2437 2788 2252 4960 1725 2348 6 623 1949 465 2269 7300 6468 53 3721 1 852 1742 1613 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC040162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF047338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF053402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF054505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF054506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI368074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY026038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY211326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF272417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC321966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC333904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC402650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U55054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000316341   ⟹   ENSP00000318557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,943,474 - 67,968,637 (-)Ensembl
Ensembl Acc Id: ENST00000422611   ⟹   ENSP00000395983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,943,474 - 67,968,694 (-)Ensembl
Ensembl Acc Id: ENST00000537830   ⟹   ENSP00000445962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,944,593 - 67,964,065 (-)Ensembl
Ensembl Acc Id: ENST00000541864   ⟹   ENSP00000438334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,944,342 - 67,966,878 (-)Ensembl
Ensembl Acc Id: ENST00000570616   ⟹   ENSP00000463148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,944,738 - 67,945,405 (-)Ensembl
Ensembl Acc Id: ENST00000570802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,944,485 - 67,968,553 (-)Ensembl
Ensembl Acc Id: ENST00000571299   ⟹   ENSP00000464168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,952,216 - 67,969,601 (-)Ensembl
Ensembl Acc Id: ENST00000572010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,945,790 - 67,969,192 (-)Ensembl
Ensembl Acc Id: ENST00000572037   ⟹   ENSP00000461403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,944,414 - 67,968,584 (-)Ensembl
Ensembl Acc Id: ENST00000572476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,949,571 - 67,950,421 (-)Ensembl
Ensembl Acc Id: ENST00000572766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,949,907 - 67,951,467 (-)Ensembl
Ensembl Acc Id: ENST00000573023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,947,101 - 67,968,654 (-)Ensembl
Ensembl Acc Id: ENST00000573702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,950,369 - 67,951,929 (-)Ensembl
Ensembl Acc Id: ENST00000574665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,949,799 - 67,951,534 (-)Ensembl
Ensembl Acc Id: ENST00000575857   ⟹   ENSP00000464660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,945,545 - 67,947,105 (-)Ensembl
Ensembl Acc Id: ENST00000576377   ⟹   ENSP00000458975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,944,336 - 67,968,616 (-)Ensembl
Ensembl Acc Id: ENST00000576462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,957,529 - 67,968,469 (-)Ensembl
Ensembl Acc Id: ENST00000576513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,948,061 - 67,950,112 (-)Ensembl
Ensembl Acc Id: ENST00000576616   ⟹   ENSP00000458902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,944,485 - 67,968,553 (-)Ensembl
Ensembl Acc Id: ENST00000705485   ⟹   ENSP00000516131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,957,961 - 67,964,052 (-)Ensembl
RefSeq Acc Id: NM_001145961   ⟹   NP_001139433
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,943,474 - 67,968,637 (-)NCBI
GRCh371667,977,377 - 68,002,597 (-)ENTREZGENE
HuRef1653,850,947 - 53,876,165 (-)ENTREZGENE
CHM1_11669,385,448 - 69,410,667 (-)NCBI
T2T-CHM13v2.01673,739,247 - 73,764,410 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145962   ⟹   NP_001139434
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,943,474 - 67,968,694 (-)NCBI
GRCh371667,977,377 - 68,002,597 (-)ENTREZGENE
HuRef1653,850,947 - 53,876,165 (-)ENTREZGENE
CHM1_11669,385,448 - 69,410,667 (-)NCBI
T2T-CHM13v2.01673,739,247 - 73,764,467 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145963   ⟹   NP_001139435
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,943,474 - 67,964,052 (-)NCBI
GRCh371667,977,377 - 68,002,597 (-)ENTREZGENE
HuRef1653,850,947 - 53,876,165 (-)ENTREZGENE
CHM1_11669,385,448 - 69,406,038 (-)NCBI
T2T-CHM13v2.01673,739,247 - 73,759,825 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145964   ⟹   NP_001139436
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,943,474 - 67,966,794 (-)NCBI
GRCh371667,977,377 - 68,002,597 (-)ENTREZGENE
HuRef1653,850,947 - 53,876,165 (-)ENTREZGENE
CHM1_11669,385,448 - 69,408,851 (-)NCBI
T2T-CHM13v2.01673,739,247 - 73,762,567 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005072   ⟹   NP_005063
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,943,474 - 67,968,637 (-)NCBI
GRCh371667,977,377 - 68,002,597 (-)ENTREZGENE
Build 361666,535,731 - 66,560,026 (-)NCBI Archive
HuRef1653,850,947 - 53,876,165 (-)ENTREZGENE
CHM1_11669,385,448 - 69,410,667 (-)NCBI
T2T-CHM13v2.01673,739,247 - 73,764,410 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001139433 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139434 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139435 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139436 (Get FASTA)   NCBI Sequence Viewer  
  NP_005063 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC32815 (Get FASTA)   NCBI Sequence Viewer  
  AAC35282 (Get FASTA)   NCBI Sequence Viewer  
  AAC39684 (Get FASTA)   NCBI Sequence Viewer  
  AAC39685 (Get FASTA)   NCBI Sequence Viewer  
  AAC50563 (Get FASTA)   NCBI Sequence Viewer  
  AAH21193 (Get FASTA)   NCBI Sequence Viewer  
  AAK01946 (Get FASTA)   NCBI Sequence Viewer  
  AAO83657 (Get FASTA)   NCBI Sequence Viewer  
  BAG53532 (Get FASTA)   NCBI Sequence Viewer  
  BAG57291 (Get FASTA)   NCBI Sequence Viewer  
  BAG57330 (Get FASTA)   NCBI Sequence Viewer  
  BAG61116 (Get FASTA)   NCBI Sequence Viewer  
  BAG63994 (Get FASTA)   NCBI Sequence Viewer  
  BAH14786 (Get FASTA)   NCBI Sequence Viewer  
  EAW83191 (Get FASTA)   NCBI Sequence Viewer  
  EAW83192 (Get FASTA)   NCBI Sequence Viewer  
  EAW83193 (Get FASTA)   NCBI Sequence Viewer  
  EAW83194 (Get FASTA)   NCBI Sequence Viewer  
  EAW83195 (Get FASTA)   NCBI Sequence Viewer  
  EAW83196 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000318557
  ENSP00000318557.3
  ENSP00000438334
  ENSP00000438334.2
  ENSP00000445962
  ENSP00000445962.2
  ENSP00000458902.1
  ENSP00000458975.1
  ENSP00000461403.2
  ENSP00000463148.1
  ENSP00000464168.1
  ENSP00000464660.2
  ENSP00000516131.1
GenBank Protein Q9UP95 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001139434   ⟸   NM_001145962
- Peptide Label: isoform c
- UniProtKB: B4DF30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139433   ⟸   NM_001145961
- Peptide Label: isoform b
- UniProtKB: B4DF30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005063   ⟸   NM_005072
- Peptide Label: isoform a
- UniProtKB: Q9UP95 (UniProtKB/Swiss-Prot),   Q13953 (UniProtKB/Swiss-Prot),   O75893 (UniProtKB/Swiss-Prot),   O60632 (UniProtKB/Swiss-Prot),   F5H3C0 (UniProtKB/Swiss-Prot),   F5H0S9 (UniProtKB/Swiss-Prot),   F5H066 (UniProtKB/Swiss-Prot),   B7ZAV0 (UniProtKB/Swiss-Prot),   B4DZ82 (UniProtKB/Swiss-Prot),   B4DR04 (UniProtKB/Swiss-Prot),   B4DF69 (UniProtKB/Swiss-Prot),   Q96LD5 (UniProtKB/Swiss-Prot),   B4DF30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139436   ⟸   NM_001145964
- Peptide Label: isoform e
- UniProtKB: B4DF30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139435   ⟸   NM_001145963
- Peptide Label: isoform d
- UniProtKB: B4DF30 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000438334   ⟸   ENST00000541864
Ensembl Acc Id: ENSP00000463148   ⟸   ENST00000570616
Ensembl Acc Id: ENSP00000464168   ⟸   ENST00000571299
Ensembl Acc Id: ENSP00000461403   ⟸   ENST00000572037
Ensembl Acc Id: ENSP00000464660   ⟸   ENST00000575857
Ensembl Acc Id: ENSP00000458975   ⟸   ENST00000576377
Ensembl Acc Id: ENSP00000445962   ⟸   ENST00000537830
Ensembl Acc Id: ENSP00000458902   ⟸   ENST00000576616
Ensembl Acc Id: ENSP00000318557   ⟸   ENST00000316341
Ensembl Acc Id: ENSP00000395983   ⟸   ENST00000422611
Ensembl Acc Id: ENSP00000516131   ⟸   ENST00000705485
Protein Domains
Amino acid permease/ SLC12A   SLC12A transporter C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UP95-F1-model_v2 AlphaFold Q9UP95 1-1085 view protein structure

Promoters
RGD ID:6811045
Promoter ID:HG_ACW:31198
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SLC12A4ANDLCAT.KAPR07,   SLC12A4ANDLCAT.UAPR07,   SLC12A4ANDLCAT.VAAPR07,   SLC12A4ANDLCAT.VCAPR07,   SLC12A4ANDLCAT.VDAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361666,534,176 - 66,534,676 (-)MPROMDB
RGD ID:6792784
Promoter ID:HG_KWN:24065
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000268885,   UC010CEU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361666,535,161 - 66,536,882 (-)MPROMDB
RGD ID:6793218
Promoter ID:HG_KWN:24066
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC010CEV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361666,538,406 - 66,539,767 (-)MPROMDB
RGD ID:6793465
Promoter ID:HG_KWN:24067
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_001145963,   UC002EVB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361666,555,311 - 66,556,062 (-)MPROMDB
RGD ID:6793448
Promoter ID:HG_KWN:24068
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001145964
Position:
Human AssemblyChrPosition (strand)Source
Build 361666,558,411 - 66,559,267 (-)MPROMDB
RGD ID:6793461
Promoter ID:HG_KWN:24069
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000338335,   NM_001145961,   NM_001145962,   NM_005072,   UC002EVA.1,   UC010CEW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361666,559,911 - 66,561,127 (-)MPROMDB
RGD ID:7232607
Promoter ID:EPDNEW_H22048
Type:multiple initiation site
Name:SLC12A4_1
Description:solute carrier family 12 member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22050  EPDNEW_H22051  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,943,765 - 67,943,825EPDNEW
RGD ID:7232609
Promoter ID:EPDNEW_H22050
Type:initiation region
Name:SLC12A4_2
Description:solute carrier family 12 member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22048  EPDNEW_H22051  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,968,613 - 67,968,673EPDNEW
RGD ID:7232611
Promoter ID:EPDNEW_H22051
Type:initiation region
Name:SLC12A4_3
Description:solute carrier family 12 member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22048  EPDNEW_H22050  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,969,624 - 67,969,684EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10913 AgrOrtholog
COSMIC SLC12A4 COSMIC
Ensembl Genes ENSG00000124067 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000316341 ENTREZGENE
  ENST00000316341.8 UniProtKB/Swiss-Prot
  ENST00000537830 ENTREZGENE
  ENST00000537830.6 UniProtKB/Swiss-Prot
  ENST00000541864 ENTREZGENE
  ENST00000541864.7 UniProtKB/Swiss-Prot
  ENST00000570616.1 UniProtKB/TrEMBL
  ENST00000571299.5 UniProtKB/TrEMBL
  ENST00000572037.5 UniProtKB/TrEMBL
  ENST00000575857.3 UniProtKB/TrEMBL
  ENST00000576377.2 UniProtKB/TrEMBL
  ENST00000576616.5 UniProtKB/Swiss-Prot
  ENST00000705485.1 UniProtKB/TrEMBL
Gene3D-CATH Amino acid/polyamine transporter I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000124067 GTEx
HGNC ID HGNC:10913 ENTREZGENE
Human Proteome Map SLC12A4 Human Proteome Map
InterPro AA-permease/SLC12A_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCL_cotranspt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC12_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC12A_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6560 UniProtKB/Swiss-Prot
NCBI Gene 6560 ENTREZGENE
OMIM 604119 OMIM
PANTHER PTHR11827 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11827:SF46 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AA_permease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35807 PharmGKB
PRINTS KCLTRNSPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCLTRNSPORT1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A994J5J8_HUMAN UniProtKB/TrEMBL
  B3KUS0_HUMAN UniProtKB/TrEMBL
  B4DF30 ENTREZGENE, UniProtKB/TrEMBL
  B4DF69 ENTREZGENE
  B4DR04 ENTREZGENE
  B4DZ82 ENTREZGENE
  B7ZAV0 ENTREZGENE
  F5H066 ENTREZGENE
  F5H0S9 ENTREZGENE
  F5H3C0 ENTREZGENE
  I3L1N8_HUMAN UniProtKB/TrEMBL
  I3L4N6_HUMAN UniProtKB/TrEMBL
  J3QKM4_HUMAN UniProtKB/TrEMBL
  J3QRE2_HUMAN UniProtKB/TrEMBL
  J3QSF2_HUMAN UniProtKB/TrEMBL
  O60632 ENTREZGENE
  O75893 ENTREZGENE
  Q13953 ENTREZGENE
  Q96LD5 ENTREZGENE
  Q9UP95 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DF69 UniProtKB/Swiss-Prot
  B4DR04 UniProtKB/Swiss-Prot
  B4DZ82 UniProtKB/Swiss-Prot
  B7ZAV0 UniProtKB/Swiss-Prot
  F5H066 UniProtKB/Swiss-Prot
  F5H0S9 UniProtKB/Swiss-Prot
  F5H3C0 UniProtKB/Swiss-Prot
  O60632 UniProtKB/Swiss-Prot
  O75893 UniProtKB/Swiss-Prot
  Q13953 UniProtKB/Swiss-Prot
  Q96LD5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC12A4  solute carrier family 12 member 4    solute carrier family 12 (potassium/chloride transporter), member 4  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC12A4  solute carrier family 12 (potassium/chloride transporter), member 4    solute carrier family 12 (potassium/chloride transporters), member 4  Symbol and/or name change 5135510 APPROVED