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Gene: SLC12A4 (solute carrier family 12 member 4) Homo sapiens

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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

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	67,943,474 - 67,968,694 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	67,943,474 - 67,969,601 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	67,977,377 - 68,002,597 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	66,535,731 - 66,560,026 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	66,535,730 - 66,560,026	NCBI
Celera	16	52,485,834 - 52,511,054 (-)	NCBI		Celera
Cytogenetic Map	16	q22.1	NCBI
HuRef	16	53,850,947 - 53,876,165 (-)	NCBI		HuRef
CHM1_1	16	69,385,448 - 69,410,667 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	73,739,247 - 73,764,467 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC12A4	Human	autosomal dominant dyskeratosis congenita 6		IAGP	RGD:156450340	8554872	ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6	ClinVar	PMID:28492532
SLC12A4	Human	Chromosome 16q12 Duplication Syndrome		IAGP	RGD:407429775	8554872	ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome	ClinVar	PMID:25741868
SLC12A4	Human	Norum disease		IAGP	RGD:151739288	8554872	ClinVar Annotator: match by term: Fish-eye disease	ClinVar	PMID:21875686\|PMID:24636183\|PMID:24715031\|PMID:25741868\|PMID:28492532\|PMID:30333156\|PMID:9741700
SLC12A4	Human	Norum disease		IAGP	RGD:156234354	8554872	ClinVar Annotator: match by term: Fish-eye disease	ClinVar	PMID:25741868\|PMID:28492532\|PMID:32041611
SLC12A4	Human	Norum disease		IAGP	RGD:405713483\|RGD:597660865\|RGD:597758064\|RGD:597758070\|RGD:597758082\|RGD:597758653	8554872	ClinVar Annotator: match by term: Fish-eye disease \| ClinVar Annotator: match by term: Norum disease	ClinVar	PMID:25741868
SLC12A4	Human	Norum disease		IAGP	RGD:156360986	8554872	ClinVar Annotator: match by term: Fish-eye disease	ClinVar	PMID:25741868\|PMID:28492532
SLC12A4	Human	Norum disease		IAGP	RGD:8596195	8554872	ClinVar Annotator: match by term: Fish-eye disease	ClinVar	PMID:1571050\|PMID:24636183\|PMID:25741868\|PMID:28492532
SLC12A4	Human	Norum disease		IAGP	RGD:151851528	8554872	ClinVar Annotator: match by term: Fish-eye disease	ClinVar	PMID:15994445\|PMID:21901787\|PMID:25741868\|PMID:28492532\|PMID:33816482
SLC12A4	Human	Norum disease		IAGP	RGD:8557571	8554872	ClinVar Annotator: match by term: LCAT deficiency	ClinVar	PMID:15994445\|PMID:1662503\|PMID:22189200\|PMID:25727495\|PMID:26195816\|PMID:28492532\|PMID:29030428\|PMID:30333156\|PMID:7613477\|PMID:9541390

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC12A4	Human	(+)-schisandrin B	multiple interactions	ISO	RGD:3687	6480464	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of SLC12A4 mRNA]	CTD	PMID:31150632
SLC12A4	Human	1,1-dichloroethene	increases expression	ISO	RGD:736768	6480464	vinylidene chloride results in increased expression of SLC12A4 mRNA	CTD	PMID:26682919
SLC12A4	Human	1,2-dichloroethane	decreases expression	ISO	RGD:736768	6480464	ethylene dichloride results in decreased expression of SLC12A4 mRNA	CTD	PMID:28960355
SLC12A4	Human	1,2-dimethylhydrazine	multiple interactions	ISO	RGD:736768	6480464	[1,2-Dimethylhydrazine co-treated with Folic Acid] results in increased expression of SLC12A4 mRNA	CTD	PMID:22206623
SLC12A4	Human	1,2-dimethylhydrazine	increases expression	ISO	RGD:736768	6480464	1,2-Dimethylhydrazine results in increased expression of SLC12A4 mRNA	CTD	PMID:22206623
SLC12A4	Human	17alpha-ethynylestradiol	increases expression	ISO	RGD:736768	6480464	Ethinyl Estradiol results in increased expression of SLC12A4 mRNA	CTD	PMID:17942748
SLC12A4	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of SLC12A4 mRNA	CTD	PMID:19167446
SLC12A4	Human	2,2',4,4'-Tetrabromodiphenyl ether	increases expression	ISO	RGD:3687	6480464	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of SLC12A4 mRNA	CTD	PMID:27291303
SLC12A4	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:736768	6480464	Tetrachlorodibenzodioxin affects the expression of SLC12A4 mRNA	CTD	PMID:21570461
SLC12A4	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:3687	6480464	Tetrachlorodibenzodioxin results in increased expression of SLC12A4 mRNA	CTD	PMID:33387578
SLC12A4	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:736768	6480464	Tetrachlorodibenzodioxin results in decreased expression of SLC12A4 mRNA	CTD	PMID:33956508
SLC12A4	Human	2,4-dinitrotoluene	affects expression	ISO	RGD:3687	6480464	2,4-dinitrotoluene affects the expression of SLC12A4 mRNA	CTD	PMID:21346803
SLC12A4	Human	2,6-dinitrotoluene	affects expression	ISO	RGD:3687	6480464	2,6-dinitrotoluene affects the expression of SLC12A4 mRNA	CTD	PMID:21346803
SLC12A4	Human	4,4'-sulfonyldiphenol	decreases expression	ISO	RGD:736768	6480464	bisphenol S results in decreased expression of SLC12A4 mRNA	CTD	PMID:39298647
SLC12A4	Human	4,4'-sulfonyldiphenol	affects methylation	ISO	RGD:736768	6480464	bisphenol S affects the methylation of SLC12A4 gene	CTD	PMID:31683443
SLC12A4	Human	5-aza-2'-deoxycytidine	increases expression	EXP		6480464	Decitabine results in increased expression of SLC12A4 mRNA	CTD	PMID:17908484
SLC12A4	Human	6-propyl-2-thiouracil	decreases expression	ISO	RGD:3687	6480464	Propylthiouracil results in decreased expression of SLC12A4 mRNA	CTD	PMID:25825206
SLC12A4	Human	acrylamide	decreases expression	EXP		6480464	Acrylamide results in decreased expression of SLC12A4 mRNA	CTD	PMID:32763439
SLC12A4	Human	aflatoxin B1	increases expression	ISO	RGD:736768	6480464	Aflatoxin B1 results in increased expression of SLC12A4 mRNA	CTD	PMID:19770486
SLC12A4	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of SLC12A4 mRNA	CTD	PMID:23724009
SLC12A4	Human	all-trans-retinoic acid	multiple interactions	ISO	RGD:736768	6480464	[bisphenol F co-treated with Tretinoin] results in decreased expression of SLC12A4 mRNA	CTD	PMID:30951980
SLC12A4	Human	amiloride	multiple interactions	ISO	RGD:736768	6480464	Amiloride inhibits the reaction [SLC12A4 protein results in increased transport of Potassium]	CTD	PMID:11703599
SLC12A4	Human	ammonium chloride	affects expression	ISO	RGD:3687	6480464	Ammonium Chloride affects the expression of SLC12A4 mRNA	CTD	PMID:16483693
SLC12A4	Human	arsane	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
SLC12A4	Human	arsenic atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
SLC12A4	Human	arsenite(3-)	increases expression	ISO	RGD:736768	6480464	arsenite results in increased expression of SLC12A4 protein	CTD	PMID:37955338
SLC12A4	Human	Azoxymethane	multiple interactions	ISO	RGD:736768	6480464	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of SLC12A4 more ...	CTD	PMID:29950665
SLC12A4	Human	barium(0)	multiple interactions	ISO	RGD:736768	6480464	Barium inhibits the reaction [SLC12A4 protein results in increased transport of Potassium]	CTD	PMID:11703599
SLC12A4	Human	benzo[a]pyrene	increases expression	ISO	RGD:736768	6480464	Benzo(a)pyrene results in increased expression of SLC12A4 mRNA	CTD	PMID:22610609
SLC12A4	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of SLC12A4 mRNA	CTD	PMID:32234424
SLC12A4	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of SLC12A4 promoter	CTD	PMID:27901495
SLC12A4	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of SLC12A4 exon	CTD	PMID:27901495
SLC12A4	Human	benzo[b]fluoranthene	increases expression	ISO	RGD:736768	6480464	benzo(b)fluoranthene results in increased expression of SLC12A4 mRNA	CTD	PMID:26377693
SLC12A4	Human	bisphenol A	increases expression	ISO	RGD:3687	6480464	bisphenol A results in increased expression of SLC12A4 mRNA	CTD	PMID:25181051
SLC12A4	Human	bisphenol A	increases expression	ISO	RGD:736768	6480464	bisphenol A results in increased expression of SLC12A4 mRNA	CTD	PMID:33221593
SLC12A4	Human	bisphenol A	decreases expression	ISO	RGD:3687	6480464	bisphenol A results in decreased expression of SLC12A4 mRNA	CTD	PMID:30816183\|PMID:33296240\|PMID:34947998
SLC12A4	Human	bisphenol A	decreases expression	ISO	RGD:736768	6480464	bisphenol A results in decreased expression of SLC12A4 mRNA	CTD	PMID:29161229
SLC12A4	Human	bisphenol A	decreases methylation	ISO	RGD:736768	6480464	bisphenol A results in decreased methylation of SLC12A4 promoter	CTD	PMID:27312807
SLC12A4	Human	Bisphenol B	increases expression	EXP		6480464	bisphenol B results in increased expression of SLC12A4 protein	CTD	PMID:34186270
SLC12A4	Human	bisphenol F	multiple interactions	ISO	RGD:736768	6480464	[bisphenol F co-treated with Tretinoin] results in decreased expression of SLC12A4 mRNA	CTD	PMID:30951980
SLC12A4	Human	bisphenol F	increases expression	EXP		6480464	bisphenol F results in increased expression of SLC12A4 protein	CTD	PMID:34186270
SLC12A4	Human	caffeine	decreases phosphorylation	EXP		6480464	Caffeine results in decreased phosphorylation of SLC12A4 protein	CTD	PMID:35688186
SLC12A4	Human	chlorpyrifos	multiple interactions	ISO	RGD:3687	6480464	FMR1 inhibits the reaction [Chlorpyrifos results in increased expression of SLC12A4 mRNA]	CTD	PMID:35802248
SLC12A4	Human	choline	multiple interactions	ISO	RGD:736768	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation more ...	CTD	PMID:20938992
SLC12A4	Human	clofibrate	decreases expression	ISO	RGD:736768	6480464	Clofibrate results in decreased expression of SLC12A4 mRNA	CTD	PMID:17585979
SLC12A4	Human	copper atom	increases expression	ISO	RGD:3687	6480464	Copper results in increased expression of SLC12A4 mRNA	CTD	PMID:30556269
SLC12A4	Human	copper(0)	increases expression	ISO	RGD:3687	6480464	Copper results in increased expression of SLC12A4 mRNA	CTD	PMID:30556269
SLC12A4	Human	coumestrol	multiple interactions	EXP		6480464	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of SLC12A4 mRNA; [Coumestrol co-treated with resveratrol] more ...	CTD	PMID:19167446
SLC12A4	Human	coumestrol	increases expression	EXP		6480464	Coumestrol results in increased expression of SLC12A4 mRNA	CTD	PMID:19167446
SLC12A4	Human	Cuprizon	increases expression	ISO	RGD:3687	6480464	Cuprizone results in increased expression of SLC12A4 mRNA	CTD	PMID:26577399
SLC12A4	Human	dextran sulfate	multiple interactions	ISO	RGD:736768	6480464	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of SLC12A4 more ...	CTD	PMID:29950665
SLC12A4	Human	diazinon	affects expression	ISO	RGD:3687	6480464	Diazinon affects the expression of SLC12A4 mRNA	CTD	PMID:22546817
SLC12A4	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of SLC12A4 mRNA	CTD	PMID:37042841
SLC12A4	Human	dieldrin	affects expression	ISO	RGD:3687	6480464	Dieldrin affects the expression of SLC12A4 mRNA	CTD	PMID:22546817
SLC12A4	Human	diuron	decreases expression	ISO	RGD:3687	6480464	Diuron results in decreased expression of SLC12A4 mRNA	CTD	PMID:25152437
SLC12A4	Human	doxorubicin	increases expression	EXP		6480464	Doxorubicin results in increased expression of SLC12A4 mRNA	CTD	PMID:29803840
SLC12A4	Human	Enterolactone	multiple interactions	EXP		6480464	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of SLC12A4 mRNA	CTD	PMID:19167446
SLC12A4	Human	epoxiconazole	decreases expression	ISO	RGD:736768	6480464	epoxiconazole results in decreased expression of SLC12A4 mRNA	CTD	PMID:35436446
SLC12A4	Human	ethanol	increases expression	ISO	RGD:736768	6480464	Ethanol results in increased expression of SLC12A4 mRNA	CTD	PMID:30319688
SLC12A4	Human	fenamidone	increases expression	ISO	RGD:736768	6480464	fenamidone results in increased expression of SLC12A4 mRNA	CTD	PMID:27029645
SLC12A4	Human	folic acid	multiple interactions	ISO	RGD:736768	6480464	[1,2-Dimethylhydrazine co-treated with Folic Acid] results in increased expression of SLC12A4 mRNA; [Methionine deficiency co-treated more ...	CTD	PMID:20938992\|PMID:22206623
SLC12A4	Human	FR900359	affects phosphorylation	EXP		6480464	FR900359 affects the phosphorylation of SLC12A4 protein	CTD	PMID:37730182
SLC12A4	Human	genistein	decreases expression	EXP		6480464	Genistein results in decreased expression of SLC12A4 mRNA	CTD	PMID:16705744
SLC12A4	Human	genistein	decreases expression	ISO	RGD:736768	6480464	Genistein results in decreased expression of SLC12A4 mRNA	CTD	PMID:21048042
SLC12A4	Human	gentamycin	increases expression	ISO	RGD:3687	6480464	Gentamicins results in increased expression of SLC12A4 mRNA	CTD	PMID:33387578
SLC12A4	Human	L-methionine	multiple interactions	ISO	RGD:736768	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation more ...	CTD	PMID:20938992
SLC12A4	Human	lead(0)	affects expression	EXP		6480464	Lead affects the expression of SLC12A4 mRNA	CTD	PMID:28903495
SLC12A4	Human	leflunomide	increases expression	EXP		6480464	leflunomide results in increased expression of SLC12A4 mRNA	CTD	PMID:28988120
SLC12A4	Human	magnesium atom	affects expression	ISO	RGD:736768	6480464	Magnesium affects the expression of SLC12A4 mRNA	CTD	PMID:11703599
SLC12A4	Human	magnesium atom	multiple interactions	ISO	RGD:736768	6480464	Magnesium affects the reaction [SLC12A4 protein results in increased transport of Potassium]	CTD	PMID:11703599
SLC12A4	Human	manganese atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
SLC12A4	Human	manganese(0)	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
SLC12A4	Human	manganese(II) chloride	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
SLC12A4	Human	methotrexate	affects expression	ISO	RGD:736768	6480464	Methotrexate affects the expression of SLC12A4 mRNA	CTD	PMID:18502557
SLC12A4	Human	N-methyl-4-phenylpyridinium	increases expression	ISO	RGD:736768	6480464	1-Methyl-4-phenylpyridinium results in increased expression of SLC12A4 mRNA	CTD	PMID:22776087
SLC12A4	Human	N-methyl-4-phenylpyridinium	increases expression	EXP		6480464	1-Methyl-4-phenylpyridinium results in increased expression of SLC12A4 mRNA	CTD	PMID:24810058
SLC12A4	Human	nickel dichloride	affects expression	ISO	RGD:3687	6480464	nickel chloride affects the expression of SLC12A4 mRNA	CTD	PMID:22546817
SLC12A4	Human	orphenadrine	affects expression	ISO	RGD:3687	6480464	Orphenadrine affects the expression of SLC12A4 mRNA	CTD	PMID:23665939
SLC12A4	Human	ozone	multiple interactions	EXP		6480464	[Air Pollutants results in increased abundance of Ozone] which affects the expression of SLC12A4 mRNA	CTD	PMID:35430440
SLC12A4	Human	paracetamol	increases expression	ISO	RGD:736768	6480464	Acetaminophen results in increased expression of SLC12A4 mRNA	CTD	PMID:17585979
SLC12A4	Human	paracetamol	increases expression	ISO	RGD:3687	6480464	Acetaminophen results in increased expression of SLC12A4 mRNA	CTD	PMID:33387578
SLC12A4	Human	paracetamol	affects expression	ISO	RGD:736768	6480464	Acetaminophen affects the expression of SLC12A4 mRNA	CTD	PMID:17562736
SLC12A4	Human	potassium atom	multiple interactions	ISO	RGD:736768	6480464	Amiloride inhibits the reaction [SLC12A4 protein results in increased transport of Potassium]; Barium inhibits the more ...	CTD	PMID:11703599
SLC12A4	Human	potassium atom	increases transport	ISO	RGD:736768	6480464	SLC12A4 protein results in increased transport of Potassium	CTD	PMID:11703599
SLC12A4	Human	quercetin	increases expression	EXP		6480464	Quercetin results in increased expression of SLC12A4 mRNA	CTD	PMID:21632981
SLC12A4	Human	quercetin	increases phosphorylation	EXP		6480464	Quercetin results in increased phosphorylation of SLC12A4 protein	CTD	PMID:35688186
SLC12A4	Human	resveratrol	multiple interactions	EXP		6480464	[Coumestrol co-treated with resveratrol] results in increased expression of SLC12A4 mRNA	CTD	PMID:19167446
SLC12A4	Human	resveratrol	increases expression	EXP		6480464	resveratrol results in increased expression of SLC12A4 mRNA	CTD	PMID:25436977
SLC12A4	Human	rotenone	increases expression	EXP		6480464	Rotenone results in increased expression of SLC12A4 mRNA	CTD	PMID:29955902
SLC12A4	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of SLC12A4 mRNA	CTD	PMID:38568856
SLC12A4	Human	sodium arsenite	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
SLC12A4	Human	tetrachloromethane	multiple interactions	ISO	RGD:3687	6480464	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of SLC12A4 mRNA]	CTD	PMID:31150632
SLC12A4	Human	tetrachloromethane	increases expression	ISO	RGD:736768	6480464	Carbon Tetrachloride results in increased expression of SLC12A4 mRNA	CTD	PMID:31919559
SLC12A4	Human	tetrachloromethane	increases expression	ISO	RGD:3687	6480464	Carbon Tetrachloride results in increased expression of SLC12A4 mRNA	CTD	PMID:31150632
SLC12A4	Human	thioacetamide	increases expression	ISO	RGD:3687	6480464	Thioacetamide results in increased expression of SLC12A4 mRNA	CTD	PMID:34492290
SLC12A4	Human	thiram	increases expression	EXP		6480464	Thiram results in increased expression of SLC12A4 mRNA	CTD	PMID:38568856
SLC12A4	Human	titanium dioxide	increases expression	ISO	RGD:736768	6480464	titanium dioxide results in increased expression of SLC12A4 mRNA	CTD	PMID:27760801
SLC12A4	Human	titanium dioxide	decreases methylation	ISO	RGD:736768	6480464	titanium dioxide results in decreased methylation of SLC12A4 gene	CTD	PMID:35295148
SLC12A4	Human	titanium dioxide	multiple interactions	ISO	RGD:736768	6480464	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of SLC12A4 more ...	CTD	PMID:29950665
SLC12A4	Human	trichloroethene	increases expression	ISO	RGD:3687	6480464	Trichloroethylene results in increased expression of SLC12A4 mRNA	CTD	PMID:33387578
SLC12A4	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of SLC12A4 mRNA	CTD	PMID:37042841
SLC12A4	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of SLC12A4 gene	CTD	PMID:29154799
SLC12A4	Human	zidovudine	increases expression	EXP		6480464	Zidovudine results in increased expression of SLC12A4 mRNA	CTD	PMID:24292225
SLC12A4	Human	zinc atom	increases expression	EXP		6480464	Zinc deficiency results in increased expression of SLC12A4 mRNA	CTD	PMID:18356318
SLC12A4	Human	zinc(0)	increases expression	EXP		6480464	Zinc deficiency results in increased expression of SLC12A4 mRNA	CTD	PMID:18356318

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC12A4	Human	cell volume homeostasis	involved_in	TAS		150520179	PMID:9516379	PINC	PMID:9516379
SLC12A4	Human	cell volume homeostasis	involved_in	IBA	MGI:101924\|PANTHER:PTN000214719\|RGD:1359672\|RGD:620809\|UniProtKB:Q13621\|UniProtKB:Q9UHW9	150520179		GO_Central	GO_REF:0000033
SLC12A4	Human	chemical synaptic transmission	involved_in	IBA	MGI:1862037\|PANTHER:PTN000930408	150520179		GO_Central	GO_REF:0000033
SLC12A4	Human	chloride ion homeostasis	involved_in	ISS	UniProtKB:Q28677	150520179		UniProt	GO_REF:0000024
SLC12A4	Human	chloride ion homeostasis	involved_in	IBA	MGI:101924\|MGI:2135960\|PANTHER:PTN000214719\|UniProtKB:Q9H2X9\|ZFIN:ZDB-GENE-060503-425	150520179		GO_Central	GO_REF:0000033
SLC12A4	Human	chloride transmembrane transport	involved_in	IEA	GO:0015377	150520179		GOC	GO_REF:0000108
SLC12A4	Human	chloride transmembrane transport	involved_in	IBA	MGI:101924\|PANTHER:PTN000214719\|WB:WBGene00006504	150520179		GO_Central	GO_REF:0000033
SLC12A4	Human	monoatomic ion transport	involved_in	IEA	InterPro:IPR000076\|InterPro:IPR000622\|InterPro:IPR004842\|InterPro:IPR018491	150520179		InterPro	GO_REF:0000002
SLC12A4	Human	monoatomic ion transport	involved_in	IEA	UniProtKB-KW:KW-0406	150520179		UniProt	GO_REF:0000043
SLC12A4	Human	monoatomic ion transport	involved_in	TAS		150520179		Reactome	Reactome:R-HSA-425393
SLC12A4	Human	potassium ion homeostasis	involved_in	ISS	UniProtKB:Q28677	150520179		UniProt	GO_REF:0000024
SLC12A4	Human	potassium ion homeostasis	involved_in	IBA	MGI:101924\|MGI:2135960\|PANTHER:PTN000214719\|SGD:S000000439	150520179		GO_Central	GO_REF:0000033
SLC12A4	Human	potassium ion import across plasma membrane	involved_in	ISS	UniProtKB:Q28677	150520179		ARUK-UCL	GO_REF:0000024
SLC12A4	Human	potassium ion import across plasma membrane	involved_in	IBA	MGI:101924\|MGI:1342283\|PANTHER:PTN000214719\|UniProtKB:Q9UHW9	150520179		GO_Central	GO_REF:0000033
SLC12A4	Human	potassium ion transmembrane transport	involved_in	IEA	GO:0015379	150520179		GOC	GO_REF:0000108
SLC12A4	Human	potassium ion transmembrane transport	involved_in	ISS	UniProtKB:Q28677\|UniProtKB:Q9JIS8	150520179		UniProt	GO_REF:0000024
SLC12A4	Human	potassium ion transport	involved_in	IEA	UniProtKB-KW:KW-0633	150520179		UniProt	GO_REF:0000043
SLC12A4	Human	transmembrane transport	involved_in	IEA	GO:0022857	150520179		GOC	GO_REF:0000108
SLC12A4	Human	transmembrane transport	involved_in	IEA	InterPro:IPR004841	150520179		InterPro	GO_REF:0000002

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC12A4	Human	lysosomal membrane	located_in	HDA		150520179	PMID:17897319	UniProt	PMID:17897319
SLC12A4	Human	membrane	located_in	IEA	InterPro:IPR000076\|InterPro:IPR000622\|InterPro:IPR004841\|InterPro:IPR004842\|InterPro:IPR018491	150520179		InterPro	GO_REF:0000002
SLC12A4	Human	membrane	located_in	IEA	UniProtKB-SubCell:SL-0162	150520179		UniProt	GO_REF:0000044
SLC12A4	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
SLC12A4	Human	membrane	located_in	TAS		150520179	PMID:8663127	PINC	PMID:8663127
SLC12A4	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
SLC12A4	Human	plasma membrane	is_active_in	IBA	MGI:1862037\|MGI:2135960\|PANTHER:PTN000930407\|RGD:620811\|UniProtKB:Q9UHW9\|WB:WBGene00019289	150520179		GO_Central	GO_REF:0000033
SLC12A4	Human	plasma membrane	located_in	TAS		150520179	PMID:8663127	Reactome	PMID:8663127\|Reactome:R-HSA-426155
SLC12A4	Human	plasma membrane	located_in	ISS	UniProtKB:Q28677	150520179		UniProt	GO_REF:0000024
SLC12A4	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
SLC12A4	Human	synapse	located_in	IEA	GO:0007268	150520179		GOC	GO_REF:0000108

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC12A4	Human	ATP binding	enables	IDA		150520179	PMID:34031912	UniProt	PMID:34031912
SLC12A4	Human	chloride:monoatomic cation symporter activity	enables	IEA	InterPro:IPR004842	150520179		InterPro	GO_REF:0000002
SLC12A4	Human	potassium:chloride symporter activity	enables	ISS	UniProtKB:Q28677	150520179		ARUK-UCL	GO_REF:0000024
SLC12A4	Human	potassium:chloride symporter activity	enables	IBA	FB:FBgn0036279\|FB:FBgn0261794\|MGI:103150\|MGI:1309465\|MGI:1342283\|MGI:1862037\|MGI:2135960\|PANTHER:PTN000214719\|RGD:3685\|RGD:620809\|RGD:620811\|SGD:S000000439\|UniProtKB:P55011\|UniProtKB:Q13621\|UniProtKB:Q9H2X9\|UniProtKB:Q9UHW9\|UniProtKB:Q9UP95\|WB:WBGene00006504\|WB:WBGene00019205	150520179		GO_Central	GO_REF:0000033
SLC12A4	Human	potassium:chloride symporter activity	enables	IEA	InterPro:IPR000076	150520179		InterPro	GO_REF:0000002
SLC12A4	Human	potassium:chloride symporter activity	enables	TAS		150520179	PMID:8663127	Reactome	PMID:8663127\|Reactome:R-HSA-426155
SLC12A4	Human	potassium:chloride symporter activity	enables	ISS	UniProtKB:Q28677\|UniProtKB:Q9JIS8	150520179		UniProt	GO_REF:0000024
SLC12A4	Human	potassium:chloride symporter activity	enables	IDA		150520179	PMID:34031912	UniProt	PMID:34031912
SLC12A4	Human	protein binding	enables	IPI	UniProtKB:A8MQ03\|UniProtKB:P59991\|UniProtKB:Q3LHN2\|UniProtKB:Q8IYB1\|UniProtKB:Q8N720\|UniProtKB:Q8N9M5\|UniProtKB:Q9BYD5\|UniProtKB:Q9Y2T2	150520179	PMID:32296183	IntAct	PMID:32296183
SLC12A4	Human	protein serine/threonine kinase binding	enables	IPI	UniProtKB:O95747\|UniProtKB:Q9UEW8	150520179	PMID:24393035	ParkinsonsUK-UCL	PMID:24393035
SLC12A4	Human	symporter activity	enables	IEA	UniProtKB-KW:KW-0769	150520179		UniProt	GO_REF:0000043
SLC12A4	Human	transmembrane transporter activity	enables	IEA	InterPro:IPR000622\|InterPro:IPR018491	150520179		InterPro	GO_REF:0000002

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLC12A4	Human	Immunodeficiency		IAGP	RGD:151815659	8554872	ClinVar Annotator: match by term: Immunodeficiency	ClinVar

#	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

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

SLC12A4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	67,943,474 - 67,968,694 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	67,943,474 - 67,969,601 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	67,977,377 - 68,002,597 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	66,535,731 - 66,560,026 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	66,535,730 - 66,560,026	NCBI
Celera	16	52,485,834 - 52,511,054 (-)	NCBI		Celera
Cytogenetic Map	16	q22.1	NCBI
HuRef	16	53,850,947 - 53,876,165 (-)	NCBI		HuRef
CHM1_1	16	69,385,448 - 69,410,667 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	73,739,247 - 73,764,467 (-)	NCBI		T2T-CHM13v2.0

Slc12a4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	106,670,222 - 106,692,781 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	106,670,222 - 106,692,729 (-)	Ensembl		GRCm39 Ensembl
GRCm38	8	105,943,590 - 105,966,149 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	105,943,590 - 105,966,097 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	108,467,493 - 108,489,939 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	108,832,722 - 108,855,168 (-)	NCBI		MGSCv36	mm8
Celera	8	110,171,642 - 110,194,085 (-)	NCBI		Celera
Cytogenetic Map	8	D3	NCBI
cM Map	8	53.06	NCBI

Slc12a4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	19	50,748,268 - 50,770,217 (-)	NCBI		GRCr8
mRatBN7.2	19	33,838,418 - 33,860,369 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	19	33,838,419 - 33,860,331 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	19	40,653,965 - 40,675,808 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	19	41,307,280 - 41,329,122 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	19	43,605,822 - 43,627,712 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	19	37,917,003 - 37,938,952 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	19	37,917,014 - 37,938,857 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	19	48,784,035 - 48,805,888 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	35,785,181 - 35,807,024 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	19	35,790,067 - 35,811,905 (-)	NCBI
Celera	19	33,265,978 - 33,287,821 (-)	NCBI		Celera
Cytogenetic Map	19	q12	NCBI

Slc12a4
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955484	8,749,194 - 8,772,599 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955484	8,749,194 - 8,772,599 (+)	NCBI	ChiLan1.0	ChiLan1.0

SLC12A4
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	18	77,470,550 - 77,494,899 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	83,381,969 - 83,406,307 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	48,285,265 - 48,309,614 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	67,673,087 - 67,698,223 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	67,673,087 - 67,697,280 (-)	Ensembl	panpan1.1		panPan2

SLC12A4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	81,533,491 - 81,555,901 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	81,533,470 - 81,559,313 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	81,523,512 - 81,545,458 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	81,968,814 - 81,991,227 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	81,968,753 - 81,994,636 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	81,795,063 - 81,817,008 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	81,477,196 - 81,499,140 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	82,119,391 - 82,141,353 (+)	NCBI		UU_Cfam_GSD_1.0

Slc12a4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409349	41,269,207 - 41,291,720 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936475	18,297,394 - 18,321,892 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936475	18,297,394 - 18,319,191 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SLC12A4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	28,553,616 - 28,576,504 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	28,554,162 - 28,576,458 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	26,043,412 - 26,056,523 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SLC12A4
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	5	59,472,831 - 59,495,690 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	59,472,874 - 59,495,669 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666047	22,198,442 - 22,221,522 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Slc12a4
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624746	18,414,520 - 18,441,806 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624746	18,414,589 - 18,438,278 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in SLC12A4
142 total 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]\|not provided [RCV005089155]	Chr16:67944001 [GRCh38] Chr16:67977904 [GRCh37] Chr16:16q22.1	pathogenic
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 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
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
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 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.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 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
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
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 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
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
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
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]\|not provided [RCV005096356]	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.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.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.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.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.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_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]\|Fish-eye disease [RCV005019324]\|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.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.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_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.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]\|Fish-eye disease [RCV005015172]	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.-31A>T	single nucleotide variant	not specified [RCV004456264]	Chr16:67968584 [GRCh38] Chr16:68002487 [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.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
NM_000229.2(LCAT):c.21A>G (p.Pro7=)	single nucleotide variant	Cardiovascular phenotype [RCV004993643]	Chr16:67944081 [GRCh38] Chr16:67977984 [GRCh37] Chr16:16q22.1	likely benign
NM_000229.2(LCAT):c.153C>T (p.Leu51=)	single nucleotide variant	Cardiovascular phenotype [RCV004993641]	Chr16:67943949 [GRCh38] Chr16:67977852 [GRCh37] Chr16:16q22.1	likely benign
NM_000229.2(LCAT):c.120T>C (p.Ala40=)	single nucleotide variant	Cardiovascular phenotype [RCV004993647]	Chr16:67943982 [GRCh38] Chr16:67977885 [GRCh37] Chr16:16q22.1	likely benign
GRCh37/hg19 16q21-24.1(chr16:62746020-84485022)x3	copy number gain	not provided [RCV004819314]	Chr16:62746020..84485022 [GRCh37] Chr16:16q21-24.1	pathogenic
NM_000229.2(LCAT):c.154+5G>A	single nucleotide variant	Norum disease [RCV005002131]	Chr16:67943943 [GRCh38] Chr16:67977846 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.-70C>T	single nucleotide variant	not specified [RCV004864619]	Chr16:67968623 [GRCh38] Chr16:68002526 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.557A>G (p.Tyr186Cys)	single nucleotide variant	not specified [RCV004864620]	Chr16:67954761 [GRCh38] Chr16:67988664 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.460C>T (p.Leu154Phe)	single nucleotide variant	not specified [RCV004864621]	Chr16:67957927 [GRCh38] Chr16:67991830 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.1520T>C (p.Ile507Thr)	single nucleotide variant	not specified [RCV004864622]	Chr16:67950428 [GRCh38] Chr16:67984331 [GRCh37] Chr16:16q22.1	uncertain significance
NM_000229.2(LCAT):c.116A>T (p.Lys39Met)	single nucleotide variant	Fish-eye disease [RCV005017736]	Chr16:67943986 [GRCh38] Chr16:67977889 [GRCh37] Chr16:16q22.1	uncertain significance
NM_000229.2(LCAT):c.154+19C>G	single nucleotide variant	not provided [RCV005115807]	Chr16:67943929 [GRCh38] Chr16:67977832 [GRCh37] Chr16:16q22.1	likely benign
NM_005072.5(SLC12A4):c.2498T>C (p.Phe833Ser)	single nucleotide variant	not specified [RCV004864616]	Chr16:67946280 [GRCh38] Chr16:67980183 [GRCh37] Chr16:16q22.1	uncertain significance
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 16q22.1(chr16:67132790-68166320)	copy number loss	not provided [RCV000767617]	Chr16:67132790..68166320 [GRCh37] Chr16:16q22.1	pathogenic
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
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
NM_000229.2(LCAT):c.72C>G (p.Pro24=)	single nucleotide variant	Cardiovascular phenotype [RCV002382758]\|not provided [RCV005097095]	Chr16:67944030 [GRCh38] Chr16:67977933 [GRCh37] Chr16:16q22.1	likely benign
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.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.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.2623C>T (p.Arg875Trp)	single nucleotide variant	not specified [RCV004215654]	Chr16:67946067 [GRCh38] Chr16:67979970 [GRCh37] Chr16:16q22.1	uncertain significance
NM_000229.2(LCAT):c.107C>T (p.Thr36Ile)	single nucleotide variant	Fish-eye disease [RCV005019298]\|not provided [RCV002626912]	Chr16:67943995 [GRCh38] Chr16:67977898 [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.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.2537T>C (p.Ile846Thr)	single nucleotide variant	not specified [RCV004248474]	Chr16:67946241 [GRCh38] Chr16:67980144 [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.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.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.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.2371G>A (p.Val791Met)	single nucleotide variant	not specified [RCV004864605]	Chr16:67946504 [GRCh38] Chr16:67980407 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.2825C>A (p.Thr942Asn)	single nucleotide variant	not specified [RCV004864606]	Chr16:67945786 [GRCh38] Chr16:67979689 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.2948C>T (p.Thr983Met)	single nucleotide variant	not specified [RCV004864607]	Chr16:67945453 [GRCh38] Chr16:67979356 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.3094C>T (p.Arg1032Cys)	single nucleotide variant	not specified [RCV004864608]	Chr16:67945159 [GRCh38] Chr16:67979062 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.2719G>A (p.Glu907Lys)	single nucleotide variant	not specified [RCV004864609]	Chr16:67945971 [GRCh38] Chr16:67979874 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.3010C>T (p.Arg1004Trp)	single nucleotide variant	not specified [RCV004864610]	Chr16:67945391 [GRCh38] Chr16:67979294 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.1637G>C (p.Gly546Ala)	single nucleotide variant	not specified [RCV004864611]	Chr16:67949911 [GRCh38] Chr16:67983814 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.2924T>C (p.Val975Ala)	single nucleotide variant	not specified [RCV004864612]	Chr16:67945477 [GRCh38] Chr16:67979380 [GRCh37] Chr16:16q22.1	likely benign
NM_000229.2(LCAT):c.140G>A (p.Arg47Gln)	single nucleotide variant	not provided [RCV005175574]	Chr16:67943962 [GRCh38] Chr16:67977865 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.259G>A (p.Val87Ile)	single nucleotide variant	not specified [RCV004864614]	Chr16:67961658 [GRCh38] Chr16:67995561 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.1696G>A (p.Glu566Lys)	single nucleotide variant	not specified [RCV004864615]	Chr16:67949852 [GRCh38] Chr16:67983755 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.311G>A (p.Ser104Asn)	single nucleotide variant	not specified [RCV004864617]	Chr16:67961606 [GRCh38] Chr16:67995509 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.86G>A (p.Gly29Glu)	single nucleotide variant	not specified [RCV004864618]	Chr16:67968468 [GRCh38] Chr16:68002371 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.3181G>A (p.Glu1061Lys)	single nucleotide variant	not specified [RCV004864625]	Chr16:67944917 [GRCh38] Chr16:67978820 [GRCh37] Chr16:16q22.1	uncertain significance
NM_005072.5(SLC12A4):c.2866C>T (p.Arg956Trp)	single nucleotide variant	not specified [RCV004864626]	Chr16:67945535 [GRCh38] Chr16:67979438 [GRCh37] Chr16:16q22.1	uncertain significance
NM_000229.2(LCAT):c.142_154+1dup	duplication	Fish-eye disease [RCV005017734]	Chr16:67943946..67943947 [GRCh38] Chr16:67977849..67977850 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_000229.2(LCAT):c.118G>T (p.Ala40Ser)	single nucleotide variant	Fish-eye disease [RCV005017735]	Chr16:67943984 [GRCh38] Chr16:67977887 [GRCh37] Chr16:16q22.1	uncertain significance
NM_000229.2(LCAT):c.115A>T (p.Lys39Ter)	single nucleotide variant	Fish-eye disease [RCV005017737]	Chr16:67943987 [GRCh38] Chr16:67977890 [GRCh37] Chr16:16q22.1	likely pathogenic

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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597371227	GWAS1467301_H	BMI-adjusted waist circumference QTL GWAS1467301 (human)		3e-19	body size trait (VT:0100005)		16	67950901	67950902	Human
406962880	GWAS611856_H	high density lipoprotein cholesterol measurement QTL GWAS611856 (human)		3e-57	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	16	67951803	67951804	Human
597617693	GWAS1674553_H	total cholesterol measurement QTL GWAS1674553 (human)		4e-22	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	16	67956073	67956074	Human
597516763	GWAS1612837_H	triglycerides to total lipids in large VLDL percentage QTL GWAS1612837 (human)		7e-10	blood VLDL triglyceride amount (VT:0010700)		16	67964017	67964018	Human
597320605	GWAS1416679_H	high density lipoprotein cholesterol measurement QTL GWAS1416679 (human)		2e-12	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	16	67965312	67965313	Human
597202579	GWAS1298653_H	lean body mass QTL GWAS1298653 (human)		6e-13	body lean mass (VT:0010483)	total body lean mass (CMO:0003950)	16	67958069	67958070	Human
596971609	GWAS1091128_H	glomerular filtration rate, bipolar disorder QTL GWAS1091128 (human)		8e-11	glomerular filtration rate, bipolar disorder		16	67950686	67950687	Human
597169238	GWAS1265312_H	high density lipoprotein cholesterol measurement QTL GWAS1265312 (human)		3e-22	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	16	67965312	67965313	Human
597291913	GWAS1387987_H	Astigmatism, refractive error measurement QTL GWAS1387987 (human)		8e-10	Astigmatism, refractive error measurement		16	67959740	67959741	Human
597123713	GWAS1219787_H	high density lipoprotein cholesterol measurement QTL GWAS1219787 (human)		2e-08	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	16	67951803	67951804	Human
597142926	GWAS1239000_H	high density lipoprotein cholesterol measurement QTL GWAS1239000 (human)		2e-13	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	16	67956073	67956074	Human
597466309	GWAS1562383_H	high density lipoprotein cholesterol measurement QTL GWAS1562383 (human)		9e-37	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	16	67964017	67964018	Human
597466310	GWAS1562384_H	high density lipoprotein cholesterol measurement QTL GWAS1562384 (human)		0.000004	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	16	67964017	67964018	Human
597466311	GWAS1562385_H	high density lipoprotein cholesterol measurement QTL GWAS1562385 (human)		5e-44	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	16	67964017	67964018	Human
597042440	GWAS1138514_H	appendicular lean mass QTL GWAS1138514 (human)		2e-09	appendicular lean mass		16	67958069	67958070	Human
596955659	GWAS1075178_H	Astigmatism, refractive error measurement QTL GWAS1075178 (human)		8e-10	Astigmatism, refractive error measurement		16	67959740	67959741	Human
597322617	GWAS1418691_H	high density lipoprotein cholesterol measurement QTL GWAS1418691 (human)		5e-300	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	16	67951803	67951804	Human
597363133	GWAS1459207_H	high density lipoprotein cholesterol measurement QTL GWAS1459207 (human)		3e-09	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	16	67943479	67943480	Human
597431093	GWAS1527167_H	erythrocyte count QTL GWAS1527167 (human)		1e-15	erythrocyte count	red blood cell count (CMO:0000025)	16	67943479	67943480	Human
597439415	GWAS1535489_H	total cholesterol measurement QTL GWAS1535489 (human)		0.000002	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	16	67964017	67964018	Human
597285293	GWAS1381367_H	cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1381367 (human)		4e-14	cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	16	67951803	67951804	Human
597176046	GWAS1272120_H	phospholipids:total lipids ratio QTL GWAS1272120 (human)		2e-15	phospholipids:total lipids ratio		16	67951803	67951804	Human
597286830	GWAS1382904_H	high density lipoprotein cholesterol measurement QTL GWAS1382904 (human)		1e-83	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	16	67951803	67951804	Human
597362787	GWAS1458861_H	high density lipoprotein cholesterol measurement QTL GWAS1458861 (human)		4e-10	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	16	67943479	67943480	Human
597110572	GWAS1206646_H	mathematical ability QTL GWAS1206646 (human)		1e-14	mathematical ability		16	67955620	67955621	Human

RH79953

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	67,979,037 - 67,979,419	UniSTS	GRCh37
Build 36	16	66,536,538 - 66,536,920	RGD	NCBI36
Celera	16	52,487,494 - 52,487,876	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	53,852,607 - 53,852,989	UniSTS

RH70676

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	67,978,507 - 67,978,691	UniSTS	GRCh37
Build 36	16	66,536,008 - 66,536,192	RGD	NCBI36
Celera	16	52,486,964 - 52,487,148	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	53,852,077 - 53,852,261	UniSTS
GeneMap99-GB4 RH Map	16	408.75	UniSTS
NCBI RH Map	16	508.6	UniSTS

SLC12A4_2007

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	67,978,050 - 67,978,767	UniSTS	GRCh37
Build 36	16	66,535,551 - 66,536,268	RGD	NCBI36
Celera	16	52,486,507 - 52,487,224	RGD
HuRef	16	53,851,620 - 53,852,337	UniSTS

RH77895

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	67,980,401 - 67,980,543	UniSTS	GRCh37
Build 36	16	66,537,902 - 66,538,044	RGD	NCBI36
Celera	16	52,488,858 - 52,489,000	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	53,853,970 - 53,854,112	UniSTS
GeneMap99-GB4 RH Map	16	407.22	UniSTS
NCBI RH Map	16	508.6	UniSTS

RH44404

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	67,981,569 - 67,981,988	UniSTS	GRCh37
Build 36	16	66,539,070 - 66,539,489	RGD	NCBI36
Celera	16	52,490,026 - 52,490,445	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	53,855,138 - 53,855,557	UniSTS
GeneMap99-GB4 RH Map	16	405.38	UniSTS
NCBI RH Map	16	508.6	UniSTS

SLC12A4

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	67,980,950 - 67,981,260	UniSTS	GRCh37
Celera	16	52,489,407 - 52,489,717	UniSTS
HuRef	16	53,854,519 - 53,854,829	UniSTS

D7S3207

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	7	q36	UniSTS
Cytogenetic Map	5	q14.1	UniSTS
Cytogenetic Map	8	p11	UniSTS
Cytogenetic Map	2	q31.1	UniSTS
Cytogenetic Map	8	p21	UniSTS
Cytogenetic Map	13	q12.11	UniSTS
Cytogenetic Map	7	q36.1	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	7	p11.2	UniSTS
Cytogenetic Map	9	q33.2	UniSTS
Cytogenetic Map	1	q42.12	UniSTS
Cytogenetic Map	4	p13	UniSTS
Cytogenetic Map	3	p21.1-p14.2	UniSTS
Cytogenetic Map	5	q32	UniSTS
Cytogenetic Map	14	q21	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	15	q14-q15	UniSTS
Cytogenetic Map	2	p24.2	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
Cytogenetic Map	4	q13.3	UniSTS
Cytogenetic Map	10	p12.31	UniSTS
Cytogenetic Map	6	p12.3	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	X	p22.2	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	7	q21.2	UniSTS
Cytogenetic Map	19	q13.11	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	18	q11.1	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	2	q31.2-q33.1	UniSTS

ksks15

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	67,978,803 - 67,979,287	UniSTS	GRCh37
Celera	16	52,487,260 - 52,487,744	UniSTS
HuRef	16	53,852,373 - 53,852,857	UniSTS

RH70236

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	16	q22.1	UniSTS
GeneMap99-GB4 RH Map	16	405.05	UniSTS
NCBI RH Map	16	508.6	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

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


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 Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,943,474 - 67,968,637 (-)	Ensembl

Ensembl Acc Id:

ENST00000422611 ⟹ ENSP00000395983

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,943,474 - 67,968,694 (-)	Ensembl

Ensembl Acc Id:

ENST00000537830 ⟹ ENSP00000445962

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,944,593 - 67,964,065 (-)	Ensembl

Ensembl Acc Id:

ENST00000541864 ⟹ ENSP00000438334

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,944,342 - 67,966,878 (-)	Ensembl

Ensembl Acc Id:

ENST00000570616 ⟹ ENSP00000463148

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,944,738 - 67,945,405 (-)	Ensembl

Ensembl Acc Id:

ENST00000570802

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,944,485 - 67,968,553 (-)	Ensembl

Ensembl Acc Id:

ENST00000571299 ⟹ ENSP00000464168

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,952,216 - 67,969,601 (-)	Ensembl

Ensembl Acc Id:

ENST00000572010

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,945,790 - 67,969,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000572037 ⟹ ENSP00000461403

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,944,414 - 67,968,584 (-)	Ensembl

Ensembl Acc Id:

ENST00000572476

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,949,571 - 67,950,421 (-)	Ensembl

Ensembl Acc Id:

ENST00000572766

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,949,907 - 67,951,467 (-)	Ensembl

Ensembl Acc Id:

ENST00000573023

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,947,101 - 67,968,654 (-)	Ensembl

Ensembl Acc Id:

ENST00000573702

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,950,369 - 67,951,929 (-)	Ensembl

Ensembl Acc Id:

ENST00000574665

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,949,799 - 67,951,534 (-)	Ensembl

Ensembl Acc Id:

ENST00000575857 ⟹ ENSP00000464660

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,945,545 - 67,947,105 (-)	Ensembl

Ensembl Acc Id:

ENST00000576377 ⟹ ENSP00000458975

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,944,336 - 67,968,616 (-)	Ensembl

Ensembl Acc Id:

ENST00000576462

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,957,529 - 67,968,469 (-)	Ensembl

Ensembl Acc Id:

ENST00000576513

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,948,061 - 67,950,112 (-)	Ensembl

Ensembl Acc Id:

ENST00000576616 ⟹ ENSP00000458902

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,944,485 - 67,968,553 (-)	Ensembl

Ensembl Acc Id:

ENST00000705485 ⟹ ENSP00000516131

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,957,961 - 67,964,052 (-)	Ensembl

RefSeq Acc Id:

NM_001145961 ⟹ NP_001139433

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	67,943,474 - 67,968,637 (-)	NCBI
GRCh37	16	67,977,377 - 68,002,597 (-)	ENTREZGENE
HuRef	16	53,850,947 - 53,876,165 (-)	ENTREZGENE
CHM1_1	16	69,385,448 - 69,410,667 (-)	NCBI
T2T-CHM13v2.0	16	73,739,247 - 73,764,410 (-)	NCBI

Sequence:

show sequence

GTGTCGGCCCGGGGCGGCGGGGACAGCGGCGGGGACAGCGGCGGGCGGCTGGGACGGCGGGTGCGGCGGGGCCGAGCCCGCACGATGCCTCACTTCACCGTGGTGCCAGTGGACGGGCCGAGGCGCGG
CGACTATGACAACCTCGAGGGGCTCAGTTGGGTGGACTACGGGGAGCGCGCCGAGCTGGATGACTCGGACGGACATGGCAACCACAGAGAGAGCAGCCCTTTTCTTTCCCCCTTGGAGGCTTCCAGAG
GAATTGACTACTATGACAGGAACCTGGCACTGTTTGAGGAAGAGCTGGACATCCGCCCAAAGGTATCGTCTCTTCTGGGAAAGCTCGTCAGCTACACCAACCTCACCCAGGGCGCCAAAGAGCATGAG
GAGGCCGAGAGTGGGGAGGGCACCCGCCGGAGGGCAGCCGAGGCACCCAGCATGGGCACCCTCATGGGGGTGTACCTGCCCTGCCTGCAGAATATCTTTGGGGTTATCCTCTTCCTGCGGCTGACCTG
GATGGTGGGCACAGCAGGTGTGCTACAGGCCCTCCTCATCGTGCTTATCTGCTGCTGTTGTACCCTGCTGACGGCCATCTCCATGAGTGCCATCGCCACCAACGGTGTGGTTCCAGCTGGGGGCTCCT
ATTTCATGATCTCTCGTTCACTGGGGCCAGAATTTGGAGGTGCTGTGGGCCTGTGCTTCTACCTGGGAACAACATTCGCAGCAGCCATGTACATCCTGGGGGCCATCGAGATCTTGCTGACCTACATT
GCCCCACCAGCTGCCATTTTTTACCCATCGGGTGCTCATGACACGTCGAATGCCACTTTGAACAATATGCGTGTGTATGGGACCATTTTCCTGACCTTCATGACCCTGGTGGTGTTTGTGGGGGTCAA
GTATGTGAACAAATTTGCCTCGCTCTTCCTGGCCTGTGTGATCATCTCCATCCTCTCCATCTATGCTGGGGGCATAAAGTCTATATTTGACCCTCCCGTGTTTCCGGTATGCATGCTGGGCAACAGGA
CCCTGTCCCGGGACCAGTTTGACATCTGTGCCAAGACAGCTGTAGTGGACAATGAGACAGTGGCCACCCAGCTATGGAGTTTCTTCTGCCACAGCCCCAACCTTACGACCGACTCCTGTGACCCCTAC
TTCATGCTCAACAATGTGACCGAGATCCCTGGCATCCCCGGGGCAGCTGCTGGTGTGCTCCAGGAAAACCTGTGGAGCGCCTACCTGGAGAAGGGTGACATCGTGGAGAAGCATGGGCTGCCCTCCGC
AGATGCCCCGAGCCTGAAGGAGAGCCTGCCTCTGTACGTGGTCGCTGACATCGCCACATCCTTCACCGTGCTGGTCGGCATCTTCTTCCCTTCTGTAACAGGCATCATGGCTGGCTCAAACCGCTCTG
GGGACCTTCGTGACGCCCAGAAGTCTATCCCTGTGGGGACCATTCTGGCCATCATTACAACTTCCCTCGTGTACTTCAGCAGTGTGGTTCTCTTTGGTGCCTGCATTGAGGGTGTGGTTCTCCGGGAC
AAGTATGGCGATGGTGTCAGCAGGAACTTGGTGGTGGGCACACTGGCCTGGCCTTCACCCTGGGTCATCGTCATCGGCTCCTTCTTTTCAACGTGTGGCGCTGGCCTCCAGAGCCTCACAGGGGCACC
ACGCCTATTGCAGGCCATTGCCAAGGACAACATCATCCCCTTCCTCCGGGTGTTTGGCCACGGGAAGGTGAATGGTGAACCCACATGGGCACTCCTCCTGACGGCACTCATCGCCGAGCTGGGCATCC
TCATCGCCTCCCTCGACATGGTGGCCCCCATCTTATCCATGTTCTTTCTGATGTGCTACCTGTTCGTGAACCTCGCCTGTGCGGTGCAGACACTCCTGAGGACCCCCAACTGGCGGCCCCGGTTCAAG
TACTATCACTGGGCGCTGTCCTTCCTGGGCATGAGTCTCTGCCTGGCCCTTATGTTTGTCTCCTCCTGGTACTATGCCCTGGTGGCCATGCTCATCGCCGGCATGATCTACAAATACATCGAGTACCA
AGGGGCTGAGAAGGAGTGGGGTGACGGGATCCGAGGCCTGTCCCTGAGCGCTGCCCGCTACGCGCTGTTGCGGCTGGAGGAGGGGCCTCCTCACACCAAGAACTGGCGGCCGCAGCTGCTGGTGCTGC
TGAAGCTGGACGAGGACCTCCACGTGAAGTACCCGCGGCTCCTCACCTTCGCCTCCCAGCTCAAGGCTGGCAAGGGCCTGACCATTGTTGGTTCTGTCATCCAGGGGAGCTTCTTGGAGAGCTATGGC
GAGGCTCAGGCCGCCGAGCAGACCATCAAGAACATGATGGAAATTGAGAAGGTGAAGGGCTTCTGCCAGGTGGTGGTGGCCAGCAAGGTGCGGGAGGGGCTGGCCCACCTCATCCAGTCCTGTGGCCT
GGGAGGCATGCGGCATAACTCCGTGGTGCTGGGCTGGCCCTACGGCTGGCGACAGAGCGAGGACCCCCGTGCCTGGAAGACCTTCATTGACACCGTGCGCTGCACTACGGCTGCCCACCTGGCCCTGC
TCGTGCCCAAGAACATCGCCTTCTACCCCAGCAACCACGAGCGCTACCTGGAGGGCCACATAGACGTGTGGTGGATCGTGCACGATGGTGGCATGCTCATGCTTCTGCCCTTCCTGCTGCGCCAGCAT
AAGGTCTGGAGGAAGTGCCGGATGCGCATCTTCACAGTGGCCCAGATGGATGACAACAGCATCCAGATGAAGAAGGACCTGGCTGTCTTTCTGTACCATCTGCGCCTTGAGGCCGAGCATAACAGTGA
CATCTCTGCATACACCTACGAGCGGACGCTGATGATGGAGCAGCGGTCGCAGATGCTGCGGCAGATGAGACTGACCAAGACTGAGCGGGAGCGAGAAGCCCAGCTGGTCAAGGATCGGCACTCGGCCC
TGCGGCTGGAGAGCCTGTACTCGGACGAGGAAGATGAGTCTGCAGTGGGGGCTGACAAGATCCAGATGACGTGGACCAGGGACAAGTACATGACTGAGACCTGGGACCCCAGCCATGCCCCTGACAAT
TTCCGGGAGCTGGTGCACATTAAGCCGGACCAATCCAATGTGCGGCGCATGCACACTGCTGTGAAGCTCAATGAAGTCATTGTCACGCGCTCCCACGACGCCCGCCTGGTTCTCCTAAACATGCCTGG
CCCACCCAGGAACAGTGAGGGCGACGAGAACTACATGGAGTTCCTCGAGGTGCTGACCGAGGGCCTTGAGCGGGTGCTGTTGGTGCGCGGTGGTGGCCGTGAAGTCATCACCATCTACTCCTGAGCCC
AGTGTCATCTTGTGGCCTGGAGTCGAGGTCTTGGCCAGGACATAACAAGCTGTGGTCTGGGGTAACAGCCTCTTCCCAGCACCCACCTGCCAGCCCTGCTTGCCTGGCCCTGTCCTGGACCCAGCTTT
GCTAGGTCTCCTTGGAAACCAGGCCTGGGCCTCAAAATGGAGATGGATCCCAGGTCTTGTGGGACCCTGGGATGTTTGGGGACTTTACTATCTAGCACCCCAGTAGGCCTGTCCTGGCCAGAGAAGAC
TGGTAGGGGCCGAGTGGGGTTTGAAGGCAGCCGGCCCGGCCCAGCCCAGGAGCGCTATTTATTGCATATTTATTGTTTGGATGTCACCATCAGAGACGAAGGGAAGGGTAGCCAGGGAGGGAGTCCAG
CCCAGCTGCCTGCAGGAAGATCTGGCTCAGTCTACTATGGGCAGGGCCCCCCACCAAGCTGAGCCGAATGGAGACAGCTGAGCTGAGGCCTGACTTTTTCAATAAAACATTGTGTAGTTCTGGGCCTC
CTGCTGCCCCGGCTCTGTTTCCCCTGGCGCCAAGAGAAGAAGGCGGAACTGAACCCAGGCCCAGAGCCGGCTCCCTGAGGCTGTGCCCCTTTCCGGCAATCTCTGGCCACAACCCCCACTGGCCAGGC
CGTCCCTCCCACTGGCCCTAGGGCCCCTCCCACTCCCACACCAGATAAGGACAGCCCAGTGCCGCTTTCTCTGGCAGTAGGCACCAGGGCTGGAATGGGGCCGCCCGGCTCCCCATGGCAGTGGGTGA
CGCTGCTGCTGGGGCTGCTGCTCCCTCCTGCCGCCCCCTTCTGGCTCCTCAATGTGCTCTTCCCCCCGCACACCACGCCCAAGGCTGAGCTCAGTAACCACACACGGCCCGTCATCCTCGGTAAGCCC
CCACCAGGCCCCTGATGCACCACGCCAGACCCTGGGGAGCCTGGGCCCCAGCCCCTGGCAGCTGACCTGGCCAAAGCCCTTCTGCCCTGCATAAGCCCCGACATAAGTACCTGCCCTGGTGTGGGGAG
GGGCCAAAAGCTTGTCCCTTAGAGGAATGACGTCCCTTCTCCCACCACACTGTGACTCTCAGTTGTCTAACCCAGGGGGGGCGGAGTGGGGGACGGGGTGTGCCTGAGGTCTTGGCTGGGGCATCACA
AGCTGTGGTCAGTCACAGCCACACCAGACTCTGGGCCAAGCCCCACCACTCCTTCCTTGGCCCCCACCCACCAAGGACAAGATGCCCAGCCCAGGATCGGTGAGCAGGAGAGGCCCATCCATGCCCGG
CCCCTATTAGGCCCAGCCCCCATGCCCCCAGACCTATCTGTTCCCACCTTGGACTTTGGCAATAAAGGAGCGCCAGACTGGG

hide sequence

RefSeq Acc Id:

NM_001145962 ⟹ NP_001139434

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	67,943,474 - 67,968,694 (-)	NCBI
GRCh37	16	67,977,377 - 68,002,597 (-)	ENTREZGENE
HuRef	16	53,850,947 - 53,876,165 (-)	ENTREZGENE
CHM1_1	16	69,385,448 - 69,410,667 (-)	NCBI
T2T-CHM13v2.0	16	73,739,247 - 73,764,467 (-)	NCBI

Sequence:

show sequence

CCCGGGGGGCGGGCGGAGGAAGTGAGCGCAGCGGGGAGGAATGCGAGCGGGCGGGGCGTGTCGGCCCGGGGCGGCGGGGACAGCGGCGGGGACAGCGGCGGGCGGCTGGGACGGCGGGTGCGGCGGGG
CCGAGCCCGCACGATGCCTCACTTCACCGTGGTGCCAGTGGACGGGCCGAGGCGCGGCGACTATGACAACCTCGAGGGGCTCAGTTGGGTGGACTACGGGGAGCGCGCCGAGCTGGATGACTCGGACG
GAAGAGCTGGACATCCGCCCAAAGGTATCGTCTCTTCTGGGAAAGCTCGTCAGCTACACCAACCTCACCCAGGGCGCCAAAGAGCATGAGGAGGCCGAGAGTGGGGAGGGCACCCGCCGGAGGGCAGC
CGAGGCACCCAGCATGGGCACCCTCATGGGGGTGTACCTGCCCTGCCTGCAGAATATCTTTGGGGTTATCCTCTTCCTGCGGCTGACCTGGATGGTGGGCACAGCAGGTGTGCTACAGGCCCTCCTCA
TCGTGCTTATCTGCTGCTGTTGTACCCTGCTGACGGCCATCTCCATGAGTGCCATCGCCACCAACGGTGTGGTTCCAGCTGGGGGCTCCTATTTCATGATCTCTCGTTCACTGGGGCCAGAATTTGGA
GGTGCTGTGGGCCTGTGCTTCTACCTGGGAACAACATTCGCAGCAGCCATGTACATCCTGGGGGCCATCGAGATCTTGCTGACCTACATTGCCCCACCAGCTGCCATTTTTTACCCATCGGGTGCTCA
TGACACGTCGAATGCCACTTTGAACAATATGCGTGTGTATGGGACCATTTTCCTGACCTTCATGACCCTGGTGGTGTTTGTGGGGGTCAAGTATGTGAACAAATTTGCCTCGCTCTTCCTGGCCTGTG
TGATCATCTCCATCCTCTCCATCTATGCTGGGGGCATAAAGTCTATATTTGACCCTCCCGTGTTTCCGGTATGCATGCTGGGCAACAGGACCCTGTCCCGGGACCAGTTTGACATCTGTGCCAAGACA
GCTGTAGTGGACAATGAGACAGTGGCCACCCAGCTATGGAGTTTCTTCTGCCACAGCCCCAACCTTACGACCGACTCCTGTGACCCCTACTTCATGCTCAACAATGTGACCGAGATCCCTGGCATCCC
CGGGGCAGCTGCTGGTGTGCTCCAGGAAAACCTGTGGAGCGCCTACCTGGAGAAGGGTGACATCGTGGAGAAGCATGGGCTGCCCTCCGCAGATGCCCCGAGCCTGAAGGAGAGCCTGCCTCTGTACG
TGGTCGCTGACATCGCCACATCCTTCACCGTGCTGGTCGGCATCTTCTTCCCTTCTGTAACAGGCATCATGGCTGGCTCAAACCGCTCTGGGGACCTTCGTGACGCCCAGAAGTCTATCCCTGTGGGG
ACCATTCTGGCCATCATTACAACTTCCCTCGTGTACTTCAGCAGTGTGGTTCTCTTTGGTGCCTGCATTGAGGGTGTGGTTCTCCGGGACAAGTATGGCGATGGTGTCAGCAGGAACTTGGTGGTGGG
CACACTGGCCTGGCCTTCACCCTGGGTCATCGTCATCGGCTCCTTCTTTTCAACGTGTGGCGCTGGCCTCCAGAGCCTCACAGGGGCACCACGCCTATTGCAGGCCATTGCCAAGGACAACATCATCC
CCTTCCTCCGGGTGTTTGGCCACGGGAAGGTGAATGGTGAACCCACATGGGCACTCCTCCTGACGGCACTCATCGCCGAGCTGGGCATCCTCATCGCCTCCCTCGACATGGTGGCCCCCATCTTATCC
ATGTTCTTTCTGATGTGCTACCTGTTCGTGAACCTCGCCTGTGCGGTGCAGACACTCCTGAGGACCCCCAACTGGCGGCCCCGGTTCAAGTACTATCACTGGGCGCTGTCCTTCCTGGGCATGAGTCT
CTGCCTGGCCCTTATGTTTGTCTCCTCCTGGTACTATGCCCTGGTGGCCATGCTCATCGCCGGCATGATCTACAAATACATCGAGTACCAAGGGGCTGAGAAGGAGTGGGGTGACGGGATCCGAGGCC
TGTCCCTGAGCGCTGCCCGCTACGCGCTGTTGCGGCTGGAGGAGGGGCCTCCTCACACCAAGAACTGGCGGCCGCAGCTGCTGGTGCTGCTGAAGCTGGACGAGGACCTCCACGTGAAGTACCCGCGG
CTCCTCACCTTCGCCTCCCAGCTCAAGGCTGGCAAGGGCCTGACCATTGTTGGTTCTGTCATCCAGGGGAGCTTCTTGGAGAGCTATGGCGAGGCTCAGGCCGCCGAGCAGACCATCAAGAACATGAT
GGAAATTGAGAAGGTGAAGGGCTTCTGCCAGGTGGTGGTGGCCAGCAAGGTGCGGGAGGGGCTGGCCCACCTCATCCAGTCCTGTGGCCTGGGAGGCATGCGGCATAACTCCGTGGTGCTGGGCTGGC
CCTACGGCTGGCGACAGAGCGAGGACCCCCGTGCCTGGAAGACCTTCATTGACACCGTGCGCTGCACTACGGCTGCCCACCTGGCCCTGCTCGTGCCCAAGAACATCGCCTTCTACCCCAGCAACCAC
GAGCGCTACCTGGAGGGCCACATAGACGTGTGGTGGATCGTGCACGATGGTGGCATGCTCATGCTTCTGCCCTTCCTGCTGCGCCAGCATAAGGTCTGGAGGAAGTGCCGGATGCGCATCTTCACAGT
GGCCCAGATGGATGACAACAGCATCCAGATGAAGAAGGACCTGGCTGTCTTTCTGTACCATCTGCGCCTTGAGGCCGAGGTGGAGGTGGTGGAGATGCATAACAGTGACATCTCTGCATACACCTACG
AGCGGACGCTGATGATGGAGCAGCGGTCGCAGATGCTGCGGCAGATGAGACTGACCAAGACTGAGCGGGAGCGAGAAGCCCAGCTGGTCAAGGATCGGCACTCGGCCCTGCGGCTGGAGAGCCTGTAC
TCGGACGAGGAAGATGAGTCTGCAGTGGGGGCTGACAAGATCCAGATGACGTGGACCAGGGACAAGTACATGACTGAGACCTGGGACCCCAGCCATGCCCCTGACAATTTCCGGGAGCTGGTGCACAT
TAAGCCGGACCAATCCAATGTGCGGCGCATGCACACTGCTGTGAAGCTCAATGAAGTCATTGTCACGCGCTCCCACGACGCCCGCCTGGTTCTCCTAAACATGCCTGGCCCACCCAGGAACAGTGAGG
GCGACGAGAACTACATGGAGTTCCTCGAGGTGCTGACCGAGGGCCTTGAGCGGGTGCTGTTGGTGCGCGGTGGTGGCCGTGAAGTCATCACCATCTACTCCTGAGCCCAGTGTCATCTTGTGGCCTGG
AGTCGAGGTCTTGGCCAGGACATAACAAGCTGTGGTCTGGGGTAACAGCCTCTTCCCAGCACCCACCTGCCAGCCCTGCTTGCCTGGCCCTGTCCTGGACCCAGCTTTGCTAGGTCTCCTTGGAAACC
AGGCCTGGGCCTCAAAATGGAGATGGATCCCAGGTCTTGTGGGACCCTGGGATGTTTGGGGACTTTACTATCTAGCACCCCAGTAGGCCTGTCCTGGCCAGAGAAGACTGGTAGGGGCCGAGTGGGGT
TTGAAGGCAGCCGGCCCGGCCCAGCCCAGGAGCGCTATTTATTGCATATTTATTGTTTGGATGTCACCATCAGAGACGAAGGGAAGGGTAGCCAGGGAGGGAGTCCAGCCCAGCTGCCTGCAGGAAGA
TCTGGCTCAGTCTACTATGGGCAGGGCCCCCCACCAAGCTGAGCCGAATGGAGACAGCTGAGCTGAGGCCTGACTTTTTCAATAAAACATTGTGTAGTTCTGGGCCTCCTGCTGCCCCGGCTCTGTTT
CCCCTGGCGCCAAGAGAAGAAGGCGGAACTGAACCCAGGCCCAGAGCCGGCTCCCTGAGGCTGTGCCCCTTTCCGGCAATCTCTGGCCACAACCCCCACTGGCCAGGCCGTCCCTCCCACTGGCCCTA
GGGCCCCTCCCACTCCCACACCAGATAAGGACAGCCCAGTGCCGCTTTCTCTGGCAGTAGGCACCAGGGCTGGAATGGGGCCGCCCGGCTCCCCATGGCAGTGGGTGACGCTGCTGCTGGGGCTGCTG
CTCCCTCCTGCCGCCCCCTTCTGGCTCCTCAATGTGCTCTTCCCCCCGCACACCACGCCCAAGGCTGAGCTCAGTAACCACACACGGCCCGTCATCCTCGGTAAGCCCCCACCAGGCCCCTGATGCAC
CACGCCAGACCCTGGGGAGCCTGGGCCCCAGCCCCTGGCAGCTGACCTGGCCAAAGCCCTTCTGCCCTGCATAAGCCCCGACATAAGTACCTGCCCTGGTGTGGGGAGGGGCCAAAAGCTTGTCCCTT
AGAGGAATGACGTCCCTTCTCCCACCACACTGTGACTCTCAGTTGTCTAACCCAGGGGGGGCGGAGTGGGGGACGGGGTGTGCCTGAGGTCTTGGCTGGGGCATCACAAGCTGTGGTCAGTCACAGCC
ACACCAGACTCTGGGCCAAGCCCCACCACTCCTTCCTTGGCCCCCACCCACCAAGGACAAGATGCCCAGCCCAGGATCGGTGAGCAGGAGAGGCCCATCCATGCCCGGCCCCTATTAGGCCCAGCCCC
CATGCCCCCAGACCTATCTGTTCCCACCTTGGACTTTGGCAATAAAGGAGCGCCAGACTGGGAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001145963 ⟹ NP_001139435

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	67,943,474 - 67,964,052 (-)	NCBI
GRCh37	16	67,977,377 - 68,002,597 (-)	ENTREZGENE
HuRef	16	53,850,947 - 53,876,165 (-)	ENTREZGENE
CHM1_1	16	69,385,448 - 69,406,038 (-)	NCBI
T2T-CHM13v2.0	16	73,739,247 - 73,759,825 (-)	NCBI

Sequence:

show sequence

GTAGCCAGCCGGCCACCTTTGGGCCATGGCAGCCGAAGGTGCTGTGTGCGGCTTCGTCTATCTGGAGGGCACTGCCTGGGCGGTCCCTGAGGACACCGAACCCTTGGCATCCTGCACATTGGGACATG
GCAACCACAGAGAGAGCAGCCCTTTTCTTTCCCCCTTGGAGGCTTCCAGAGGAATTGACTACTATGACAGGAACCTGGCACTGTTTGAGGAAGAGCTGGACATCCGCCCAAAGGTATCGTCTCTTCTG
GGAAAGCTCGTCAGCTACACCAACCTCACCCAGGGCGCCAAAGAGCATGAGGAGGCCGAGAGTGGGGAGGGCACCCGCCGGAGGGCAGCCGAGGCACCCAGCATGGGCACCCTCATGGGGGTGTACCT
GCCCTGCCTGCAGAATATCTTTGGGGTTATCCTCTTCCTGCGGCTGACCTGGATGGTGGGCACAGCAGGTGTGCTACAGGCCCTCCTCATCGTGCTTATCTGCTGCTGTTGTACCCTGCTGACGGCCA
TCTCCATGAGTGCCATCGCCACCAACGGTGTGGTTCCAGCTGGGGGCTCCTATTTCATGATCTCTCGTTCACTGGGGCCAGAATTTGGAGGTGCTGTGGGCCTGTGCTTCTACCTGGGAACAACATTC
GCAGCAGCCATGTACATCCTGGGGGCCATCGAGATCTTGCTGACCTACATTGCCCCACCAGCTGCCATTTTTTACCCATCGGGTGCTCATGACACGTCGAATGCCACTTTGAACAATATGCGTGTGTA
TGGGACCATTTTCCTGACCTTCATGACCCTGGTGGTGTTTGTGGGGGTCAAGTATGTGAACAAATTTGCCTCGCTCTTCCTGGCCTGTGTGATCATCTCCATCCTCTCCATCTATGCTGGGGGCATAA
AGTCTATATTTGACCCTCCCGTGTTTCCGGTATGCATGCTGGGCAACAGGACCCTGTCCCGGGACCAGTTTGACATCTGTGCCAAGACAGCTGTAGTGGACAATGAGACAGTGGCCACCCAGCTATGG
AGTTTCTTCTGCCACAGCCCCAACCTTACGACCGACTCCTGTGACCCCTACTTCATGCTCAACAATGTGACCGAGATCCCTGGCATCCCCGGGGCAGCTGCTGGTGTGCTCCAGGAAAACCTGTGGAG
CGCCTACCTGGAGAAGGGTGACATCGTGGAGAAGCATGGGCTGCCCTCCGCAGATGCCCCGAGCCTGAAGGAGAGCCTGCCTCTGTACGTGGTCGCTGACATCGCCACATCCTTCACCGTGCTGGTCG
GCATCTTCTTCCCTTCTGTAACAGGCATCATGGCTGGCTCAAACCGCTCTGGGGACCTTCGTGACGCCCAGAAGTCTATCCCTGTGGGGACCATTCTGGCCATCATTACAACTTCCCTCGTGTACTTC
AGCAGTGTGGTTCTCTTTGGTGCCTGCATTGAGGGTGTGGTTCTCCGGGACAAGTATGGCGATGGTGTCAGCAGGAACTTGGTGGTGGGCACACTGGCCTGGCCTTCACCCTGGGTCATCGTCATCGG
CTCCTTCTTTTCAACGTGTGGCGCTGGCCTCCAGAGCCTCACAGGGGCACCACGCCTATTGCAGGCCATTGCCAAGGACAACATCATCCCCTTCCTCCGGGTGTTTGGCCACGGGAAGGTGAATGGTG
AACCCACATGGGCACTCCTCCTGACGGCACTCATCGCCGAGCTGGGCATCCTCATCGCCTCCCTCGACATGGTGGCCCCCATCTTATCCATGTTCTTTCTGATGTGCTACCTGTTCGTGAACCTCGCC
TGTGCGGTGCAGACACTCCTGAGGACCCCCAACTGGCGGCCCCGGTTCAAGTACTATCACTGGGCGCTGTCCTTCCTGGGCATGAGTCTCTGCCTGGCCCTTATGTTTGTCTCCTCCTGGTACTATGC
CCTGGTGGCCATGCTCATCGCCGGCATGATCTACAAATACATCGAGTACCAAGGGGCTGAGAAGGAGTGGGGTGACGGGATCCGAGGCCTGTCCCTGAGCGCTGCCCGCTACGCGCTGTTGCGGCTGG
AGGAGGGGCCTCCTCACACCAAGAACTGGCGGCCGCAGCTGCTGGTGCTGCTGAAGCTGGACGAGGACCTCCACGTGAAGTACCCGCGGCTCCTCACCTTCGCCTCCCAGCTCAAGGCTGGCAAGGGC
CTGACCATTGTTGGTTCTGTCATCCAGGGGAGCTTCTTGGAGAGCTATGGCGAGGCTCAGGCCGCCGAGCAGACCATCAAGAACATGATGGAAATTGAGAAGGTGAAGGGCTTCTGCCAGGTGGTGGT
GGCCAGCAAGGTGCGGGAGGGGCTGGCCCACCTCATCCAGTCCTGTGGCCTGGGAGGCATGCGGCATAACTCCGTGGTGCTGGGCTGGCCCTACGGCTGGCGACAGAGCGAGGACCCCCGTGCCTGGA
AGACCTTCATTGACACCGTGCGCTGCACTACGGCTGCCCACCTGGCCCTGCTCGTGCCCAAGAACATCGCCTTCTACCCCAGCAACCACGAGCGCTACCTGGAGGGCCACATAGACGTGTGGTGGATC
GTGCACGATGGTGGCATGCTCATGCTTCTGCCCTTCCTGCTGCGCCAGCATAAGGTCTGGAGGAAGTGCCGGATGCGCATCTTCACAGTGGCCCAGATGGATGACAACAGCATCCAGATGAAGAAGGA
CCTGGCTGTCTTTCTGTACCATCTGCGCCTTGAGGCCGAGGTGGAGGTGGTGGAGATGCATAACAGTGACATCTCTGCATACACCTACGAGCGGACGCTGATGATGGAGCAGCGGTCGCAGATGCTGC
GGCAGATGAGACTGACCAAGACTGAGCGGGAGCGAGAAGCCCAGCTGGTCAAGGATCGGCACTCGGCCCTGCGGCTGGAGAGCCTGTACTCGGACGAGGAAGATGAGTCTGCAGTGGGGGCTGACAAG
ATCCAGATGACGTGGACCAGGGACAAGTACATGACTGAGACCTGGGACCCCAGCCATGCCCCTGACAATTTCCGGGAGCTGGTGCACATTAAGCCGGACCAATCCAATGTGCGGCGCATGCACACTGC
TGTGAAGCTCAATGAAGTCATTGTCACGCGCTCCCACGACGCCCGCCTGGTTCTCCTAAACATGCCTGGCCCACCCAGGAACAGTGAGGGCGACGAGAACTACATGGAGTTCCTCGAGGTGCTGACCG
AGGGCCTTGAGCGGGTGCTGTTGGTGCGCGGTGGTGGCCGTGAAGTCATCACCATCTACTCCTGAGCCCAGTGTCATCTTGTGGCCTGGAGTCGAGGTCTTGGCCAGGACATAACAAGCTGTGGTCTG
GGGTAACAGCCTCTTCCCAGCACCCACCTGCCAGCCCTGCTTGCCTGGCCCTGTCCTGGACCCAGCTTTGCTAGGTCTCCTTGGAAACCAGGCCTGGGCCTCAAAATGGAGATGGATCCCAGGTCTTG
TGGGACCCTGGGATGTTTGGGGACTTTACTATCTAGCACCCCAGTAGGCCTGTCCTGGCCAGAGAAGACTGGTAGGGGCCGAGTGGGGTTTGAAGGCAGCCGGCCCGGCCCAGCCCAGGAGCGCTATT
TATTGCATATTTATTGTTTGGATGTCACCATCAGAGACGAAGGGAAGGGTAGCCAGGGAGGGAGTCCAGCCCAGCTGCCTGCAGGAAGATCTGGCTCAGTCTACTATGGGCAGGGCCCCCCACCAAGC
TGAGCCGAATGGAGACAGCTGAGCTGAGGCCTGACTTTTTCAATAAAACATTGTGTAGTTCTGGGCCTCCTGCTGCCCCGGCTCTGTTTCCCCTGGCGCCAAGAGAAGAAGGCGGAACTGAACCCAGG
CCCAGAGCCGGCTCCCTGAGGCTGTGCCCCTTTCCGGCAATCTCTGGCCACAACCCCCACTGGCCAGGCCGTCCCTCCCACTGGCCCTAGGGCCCCTCCCACTCCCACACCAGATAAGGACAGCCCAG
TGCCGCTTTCTCTGGCAGTAGGCACCAGGGCTGGAATGGGGCCGCCCGGCTCCCCATGGCAGTGGGTGACGCTGCTGCTGGGGCTGCTGCTCCCTCCTGCCGCCCCCTTCTGGCTCCTCAATGTGCTC
TTCCCCCCGCACACCACGCCCAAGGCTGAGCTCAGTAACCACACACGGCCCGTCATCCTCGGTAAGCCCCCACCAGGCCCCTGATGCACCACGCCAGACCCTGGGGAGCCTGGGCCCCAGCCCCTGGC
AGCTGACCTGGCCAAAGCCCTTCTGCCCTGCATAAGCCCCGACATAAGTACCTGCCCTGGTGTGGGGAGGGGCCAAAAGCTTGTCCCTTAGAGGAATGACGTCCCTTCTCCCACCACACTGTGACTCT
CAGTTGTCTAACCCAGGGGGGGCGGAGTGGGGGACGGGGTGTGCCTGAGGTCTTGGCTGGGGCATCACAAGCTGTGGTCAGTCACAGCCACACCAGACTCTGGGCCAAGCCCCACCACTCCTTCCTTG
GCCCCCACCCACCAAGGACAAGATGCCCAGCCCAGGATCGGTGAGCAGGAGAGGCCCATCCATGCCCGGCCCCTATTAGGCCCAGCCCCCATGCCCCCAGACCTATCTGTTCCCACCTTGGACTTTGG
CAATAAAGGAGCGCCAGACTGGG

hide sequence

RefSeq Acc Id:

NM_001145964 ⟹ NP_001139436

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	67,943,474 - 67,966,794 (-)	NCBI
GRCh37	16	67,977,377 - 68,002,597 (-)	ENTREZGENE
HuRef	16	53,850,947 - 53,876,165 (-)	ENTREZGENE
CHM1_1	16	69,385,448 - 69,408,851 (-)	NCBI
T2T-CHM13v2.0	16	73,739,247 - 73,762,567 (-)	NCBI

Sequence:

show sequence

AGACCTTGGCTGTCTACAGGATGGGGGACACCCTGAGCCCCGGACATGGCAACCACAGAGAGAG
CAGCCCTTTTCTTTCCCCCTTGGAGGCTTCCAGAGGAATTGACTACTATGACAGGAACCTGGCACTGTTTGAGGAAGAGCTGGACATCCGCCCAAAGGTATCGTCTCTTCTGGGAAAGCTCGTCAGCT
ACACCAACCTCACCCAGGGCGCCAAAGAGCATGAGGAGGCCGAGAGTGGGGAGGGCACCCGCCGGAGGGCAGCCGAGGCACCCAGCATGGGCACCCTCATGGGGGTGTACCTGCCCTGCCTGCAGAAT
ATCTTTGGGGTTATCCTCTTCCTGCGGCTGACCTGGATGGTGGGCACAGCAGGTGTGCTACAGGCCCTCCTCATCGTGCTTATCTGCTGCTGTTGTACCCTGCTGACGGCCATCTCCATGAGTGCCAT
CGCCACCAACGGTGTGGTTCCAGCTGGGGGCTCCTATTTCATGATCTCTCGTTCACTGGGGCCAGAATTTGGAGGTGCTGTGGGCCTGTGCTTCTACCTGGGAACAACATTCGCAGCAGCCATGTACA
TCCTGGGGGCCATCGAGATCTTGCTGACCTACATTGCCCCACCAGCTGCCATTTTTTACCCATCGGGTGCTCATGACACGTCGAATGCCACTTTGAACAATATGCGTGTGTATGGGACCATTTTCCTG
ACCTTCATGACCCTGGTGGTGTTTGTGGGGGTCAAGTATGTGAACAAATTTGCCTCGCTCTTCCTGGCCTGTGTGATCATCTCCATCCTCTCCATCTATGCTGGGGGCATAAAGTCTATATTTGACCC
TCCCGTGTTTCCGGTATGCATGCTGGGCAACAGGACCCTGTCCCGGGACCAGTTTGACATCTGTGCCAAGACAGCTGTAGTGGACAATGAGACAGTGGCCACCCAGCTATGGAGTTTCTTCTGCCACA
GCCCCAACCTTACGACCGACTCCTGTGACCCCTACTTCATGCTCAACAATGTGACCGAGATCCCTGGCATCCCCGGGGCAGCTGCTGGTGTGCTCCAGGAAAACCTGTGGAGCGCCTACCTGGAGAAG
GGTGACATCGTGGAGAAGCATGGGCTGCCCTCCGCAGATGCCCCGAGCCTGAAGGAGAGCCTGCCTCTGTACGTGGTCGCTGACATCGCCACATCCTTCACCGTGCTGGTCGGCATCTTCTTCCCTTC
TGTAACAGGCATCATGGCTGGCTCAAACCGCTCTGGGGACCTTCGTGACGCCCAGAAGTCTATCCCTGTGGGGACCATTCTGGCCATCATTACAACTTCCCTCGTGTACTTCAGCAGTGTGGTTCTCT
TTGGTGCCTGCATTGAGGGTGTGGTTCTCCGGGACAAGTATGGCGATGGTGTCAGCAGGAACTTGGTGGTGGGCACACTGGCCTGGCCTTCACCCTGGGTCATCGTCATCGGCTCCTTCTTTTCAACG
TGTGGCGCTGGCCTCCAGAGCCTCACAGGGGCACCACGCCTATTGCAGGCCATTGCCAAGGACAACATCATCCCCTTCCTCCGGGTGTTTGGCCACGGGAAGGTGAATGGTGAACCCACATGGGCACT
CCTCCTGACGGCACTCATCGCCGAGCTGGGCATCCTCATCGCCTCCCTCGACATGGTGGCCCCCATCTTATCCATGTTCTTTCTGATGTGCTACCTGTTCGTGAACCTCGCCTGTGCGGTGCAGACAC
TCCTGAGGACCCCCAACTGGCGGCCCCGGTTCAAGTACTATCACTGGGCGCTGTCCTTCCTGGGCATGAGTCTCTGCCTGGCCCTTATGTTTGTCTCCTCCTGGTACTATGCCCTGGTGGCCATGCTC
ATCGCCGGCATGATCTACAAATACATCGAGTACCAAGGGGCTGAGAAGGAGTGGGGTGACGGGATCCGAGGCCTGTCCCTGAGCGCTGCCCGCTACGCGCTGTTGCGGCTGGAGGAGGGGCCTCCTCA
CACCAAGAACTGGCGGCCGCAGCTGCTGGTGCTGCTGAAGCTGGACGAGGACCTCCACGTGAAGTACCCGCGGCTCCTCACCTTCGCCTCCCAGCTCAAGGCTGGCAAGGGCCTGACCATTGTTGGTT
CTGTCATCCAGGGGAGCTTCTTGGAGAGCTATGGCGAGGCTCAGGCCGCCGAGCAGACCATCAAGAACATGATGGAAATTGAGAAGGTGAAGGGCTTCTGCCAGGTGGTGGTGGCCAGCAAGGTGCGG
GAGGGGCTGGCCCACCTCATCCAGTCCTGTGGCCTGGGAGGCATGCGGCATAACTCCGTGGTGCTGGGCTGGCCCTACGGCTGGCGACAGAGCGAGGACCCCCGTGCCTGGAAGACCTTCATTGACAC
CGTGCGCTGCACTACGGCTGCCCACCTGGCCCTGCTCGTGCCCAAGAACATCGCCTTCTACCCCAGCAACCACGAGCGCTACCTGGAGGGCCACATAGACGTGTGGTGGATCGTGCACGATGGTGGCA
TGCTCATGCTTCTGCCCTTCCTGCTGCGCCAGCATAAGGTCTGGAGGAAGTGCCGGATGCGCATCTTCACAGTGGCCCAGATGGATGACAACAGCATCCAGATGAAGAAGGACCTGGCTGTCTTTCTG
TACCATCTGCGCCTTGAGGCCGAGGTGGAGGTGGTGGAGATGCATAACAGTGACATCTCTGCATACACCTACGAGCGGACGCTGATGATGGAGCAGCGGTCGCAGATGCTGCGGCAGATGAGACTGAC
CAAGACTGAGCGGGAGCGAGAAGCCCAGCTGGTCAAGGATCGGCACTCGGCCCTGCGGCTGGAGAGCCTGTACTCGGACGAGGAAGATGAGTCTGCAGTGGGGGCTGACAAGATCCAGATGACGTGGA
CCAGGGACAAGTACATGACTGAGACCTGGGACCCCAGCCATGCCCCTGACAATTTCCGGGAGCTGGTGCACATTAAGCCGGACCAATCCAATGTGCGGCGCATGCACACTGCTGTGAAGCTCAATGAA
GTCATTGTCACGCGCTCCCACGACGCCCGCCTGGTTCTCCTAAACATGCCTGGCCCACCCAGGAACAGTGAGGGCGACGAGAACTACATGGAGTTCCTCGAGGTGCTGACCGAGGGCCTTGAGCGGGT
GCTGTTGGTGCGCGGTGGTGGCCGTGAAGTCATCACCATCTACTCCTGAGCCCAGTGTCATCTTGTGGCCTGGAGTCGAGGTCTTGGCCAGGACATAACAAGCTGTGGTCTGGGGTAACAGCCTCTTC
CCAGCACCCACCTGCCAGCCCTGCTTGCCTGGCCCTGTCCTGGACCCAGCTTTGCTAGGTCTCCTTGGAAACCAGGCCTGGGCCTCAAAATGGAGATGGATCCCAGGTCTTGTGGGACCCTGGGATGT
TTGGGGACTTTACTATCTAGCACCCCAGTAGGCCTGTCCTGGCCAGAGAAGACTGGTAGGGGCCGAGTGGGGTTTGAAGGCAGCCGGCCCGGCCCAGCCCAGGAGCGCTATTTATTGCATATTTATTG
TTTGGATGTCACCATCAGAGACGAAGGGAAGGGTAGCCAGGGAGGGAGTCCAGCCCAGCTGCCTGCAGGAAGATCTGGCTCAGTCTACTATGGGCAGGGCCCCCCACCAAGCTGAGCCGAATGGAGAC
AGCTGAGCTGAGGCCTGACTTTTTCAATAAAACATTGTGTAGTTCTGGGCCTCCTGCTGCCCCGGCTCTGTTTCCCCTGGCGCCAAGAGAAGAAGGCGGAACTGAACCCAGGCCCAGAGCCGGCTCCC
TGAGGCTGTGCCCCTTTCCGGCAATCTCTGGCCACAACCCCCACTGGCCAGGCCGTCCCTCCCACTGGCCCTAGGGCCCCTCCCACTCCCACACCAGATAAGGACAGCCCAGTGCCGCTTTCTCTGGC
AGTAGGCACCAGGGCTGGAATGGGGCCGCCCGGCTCCCCATGGCAGTGGGTGACGCTGCTGCTGGGGCTGCTGCTCCCTCCTGCCGCCCCCTTCTGGCTCCTCAATGTGCTCTTCCCCCCGCACACCA
CGCCCAAGGCTGAGCTCAGTAACCACACACGGCCCGTCATCCTCGGTAAGCCCCCACCAGGCCCCTGATGCACCACGCCAGACCCTGGGGAGCCTGGGCCCCAGCCCCTGGCAGCTGACCTGGCCAAA
GCCCTTCTGCCCTGCATAAGCCCCGACATAAGTACCTGCCCTGGTGTGGGGAGGGGCCAAAAGCTTGTCCCTTAGAGGAATGACGTCCCTTCTCCCACCACACTGTGACTCTCAGTTGTCTAACCCAG
GGGGGGCGGAGTGGGGGACGGGGTGTGCCTGAGGTCTTGGCTGGGGCATCACAAGCTGTGGTCAGTCACAGCCACACCAGACTCTGGGCCAAGCCCCACCACTCCTTCCTTGGCCCCCACCCACCAAG
GACAAGATGCCCAGCCCAGGATCGGTGAGCAGGAGAGGCCCATCCATGCCCGGCCCCTATTAGGCCCAGCCCCCATGCCCCCAGACCTATCTGTTCCCACCTTGGACTTTGGCAATAAAGGAGCGCCA
GACTGGG

hide sequence

RefSeq Acc Id:

NM_005072 ⟹ NP_005063

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	67,943,474 - 67,968,637 (-)	NCBI
GRCh37	16	67,977,377 - 68,002,597 (-)	ENTREZGENE
Build 36	16	66,535,731 - 66,560,026 (-)	NCBI Archive
HuRef	16	53,850,947 - 53,876,165 (-)	ENTREZGENE
CHM1_1	16	69,385,448 - 69,410,667 (-)	NCBI
T2T-CHM13v2.0	16	73,739,247 - 73,764,410 (-)	NCBI

Sequence:

show sequence

GTGTCGGCCCGGGGCGGCGGGGACAGCGGCGGGGACAGCGGCGGGCGGCTGGGACGGCGGGTGC
GGCGGGGCCGAGCCCGCACGATGCCTCACTTCACCGTGGTGCCAGTGGACGGGCCGAGGCGCGGCGACTATGACAACCTCGAGGGGCTCAGTTGGGTGGACTACGGGGAGCGCGCCGAGCTGGATGAC
TCGGACGGACATGGCAACCACAGAGAGAGCAGCCCTTTTCTTTCCCCCTTGGAGGCTTCCAGAGGAATTGACTACTATGACAGGAACCTGGCACTGTTTGAGGAAGAGCTGGACATCCGCCCAAAGGT
ATCGTCTCTTCTGGGAAAGCTCGTCAGCTACACCAACCTCACCCAGGGCGCCAAAGAGCATGAGGAGGCCGAGAGTGGGGAGGGCACCCGCCGGAGGGCAGCCGAGGCACCCAGCATGGGCACCCTCA
TGGGGGTGTACCTGCCCTGCCTGCAGAATATCTTTGGGGTTATCCTCTTCCTGCGGCTGACCTGGATGGTGGGCACAGCAGGTGTGCTACAGGCCCTCCTCATCGTGCTTATCTGCTGCTGTTGTACC
CTGCTGACGGCCATCTCCATGAGTGCCATCGCCACCAACGGTGTGGTTCCAGCTGGGGGCTCCTATTTCATGATCTCTCGTTCACTGGGGCCAGAATTTGGAGGTGCTGTGGGCCTGTGCTTCTACCT
GGGAACAACATTCGCAGCAGCCATGTACATCCTGGGGGCCATCGAGATCTTGCTGACCTACATTGCCCCACCAGCTGCCATTTTTTACCCATCGGGTGCTCATGACACGTCGAATGCCACTTTGAACA
ATATGCGTGTGTATGGGACCATTTTCCTGACCTTCATGACCCTGGTGGTGTTTGTGGGGGTCAAGTATGTGAACAAATTTGCCTCGCTCTTCCTGGCCTGTGTGATCATCTCCATCCTCTCCATCTAT
GCTGGGGGCATAAAGTCTATATTTGACCCTCCCGTGTTTCCGGTATGCATGCTGGGCAACAGGACCCTGTCCCGGGACCAGTTTGACATCTGTGCCAAGACAGCTGTAGTGGACAATGAGACAGTGGC
CACCCAGCTATGGAGTTTCTTCTGCCACAGCCCCAACCTTACGACCGACTCCTGTGACCCCTACTTCATGCTCAACAATGTGACCGAGATCCCTGGCATCCCCGGGGCAGCTGCTGGTGTGCTCCAGG
AAAACCTGTGGAGCGCCTACCTGGAGAAGGGTGACATCGTGGAGAAGCATGGGCTGCCCTCCGCAGATGCCCCGAGCCTGAAGGAGAGCCTGCCTCTGTACGTGGTCGCTGACATCGCCACATCCTTC
ACCGTGCTGGTCGGCATCTTCTTCCCTTCTGTAACAGGCATCATGGCTGGCTCAAACCGCTCTGGGGACCTTCGTGACGCCCAGAAGTCTATCCCTGTGGGGACCATTCTGGCCATCATTACAACTTC
CCTCGTGTACTTCAGCAGTGTGGTTCTCTTTGGTGCCTGCATTGAGGGTGTGGTTCTCCGGGACAAGTATGGCGATGGTGTCAGCAGGAACTTGGTGGTGGGCACACTGGCCTGGCCTTCACCCTGGG
TCATCGTCATCGGCTCCTTCTTTTCAACGTGTGGCGCTGGCCTCCAGAGCCTCACAGGGGCACCACGCCTATTGCAGGCCATTGCCAAGGACAACATCATCCCCTTCCTCCGGGTGTTTGGCCACGGG
AAGGTGAATGGTGAACCCACATGGGCACTCCTCCTGACGGCACTCATCGCCGAGCTGGGCATCCTCATCGCCTCCCTCGACATGGTGGCCCCCATCTTATCCATGTTCTTTCTGATGTGCTACCTGTT
CGTGAACCTCGCCTGTGCGGTGCAGACACTCCTGAGGACCCCCAACTGGCGGCCCCGGTTCAAGTACTATCACTGGGCGCTGTCCTTCCTGGGCATGAGTCTCTGCCTGGCCCTTATGTTTGTCTCCT
CCTGGTACTATGCCCTGGTGGCCATGCTCATCGCCGGCATGATCTACAAATACATCGAGTACCAAGGGGCTGAGAAGGAGTGGGGTGACGGGATCCGAGGCCTGTCCCTGAGCGCTGCCCGCTACGCG
CTGTTGCGGCTGGAGGAGGGGCCTCCTCACACCAAGAACTGGCGGCCGCAGCTGCTGGTGCTGCTGAAGCTGGACGAGGACCTCCACGTGAAGTACCCGCGGCTCCTCACCTTCGCCTCCCAGCTCAA
GGCTGGCAAGGGCCTGACCATTGTTGGTTCTGTCATCCAGGGGAGCTTCTTGGAGAGCTATGGCGAGGCTCAGGCCGCCGAGCAGACCATCAAGAACATGATGGAAATTGAGAAGGTGAAGGGCTTCT
GCCAGGTGGTGGTGGCCAGCAAGGTGCGGGAGGGGCTGGCCCACCTCATCCAGTCCTGTGGCCTGGGAGGCATGCGGCATAACTCCGTGGTGCTGGGCTGGCCCTACGGCTGGCGACAGAGCGAGGAC
CCCCGTGCCTGGAAGACCTTCATTGACACCGTGCGCTGCACTACGGCTGCCCACCTGGCCCTGCTCGTGCCCAAGAACATCGCCTTCTACCCCAGCAACCACGAGCGCTACCTGGAGGGCCACATAGA
CGTGTGGTGGATCGTGCACGATGGTGGCATGCTCATGCTTCTGCCCTTCCTGCTGCGCCAGCATAAGGTCTGGAGGAAGTGCCGGATGCGCATCTTCACAGTGGCCCAGATGGATGACAACAGCATCC
AGATGAAGAAGGACCTGGCTGTCTTTCTGTACCATCTGCGCCTTGAGGCCGAGGTGGAGGTGGTGGAGATGCATAACAGTGACATCTCTGCATACACCTACGAGCGGACGCTGATGATGGAGCAGCGG
TCGCAGATGCTGCGGCAGATGAGACTGACCAAGACTGAGCGGGAGCGAGAAGCCCAGCTGGTCAAGGATCGGCACTCGGCCCTGCGGCTGGAGAGCCTGTACTCGGACGAGGAAGATGAGTCTGCAGT
GGGGGCTGACAAGATCCAGATGACGTGGACCAGGGACAAGTACATGACTGAGACCTGGGACCCCAGCCATGCCCCTGACAATTTCCGGGAGCTGGTGCACATTAAGCCGGACCAATCCAATGTGCGGC
GCATGCACACTGCTGTGAAGCTCAATGAAGTCATTGTCACGCGCTCCCACGACGCCCGCCTGGTTCTCCTAAACATGCCTGGCCCACCCAGGAACAGTGAGGGCGACGAGAACTACATGGAGTTCCTC
GAGGTGCTGACCGAGGGCCTTGAGCGGGTGCTGTTGGTGCGCGGTGGTGGCCGTGAAGTCATCACCATCTACTCCTGAGCCCAGTGTCATCTTGTGGCCTGGAGTCGAGGTCTTGGCCAGGACATAAC
AAGCTGTGGTCTGGGGTAACAGCCTCTTCCCAGCACCCACCTGCCAGCCCTGCTTGCCTGGCCCTGTCCTGGACCCAGCTTTGCTAGGTCTCCTTGGAAACCAGGCCTGGGCCTCAAAATGGAGATGG
ATCCCAGGTCTTGTGGGACCCTGGGATGTTTGGGGACTTTACTATCTAGCACCCCAGTAGGCCTGTCCTGGCCAGAGAAGACTGGTAGGGGCCGAGTGGGGTTTGAAGGCAGCCGGCCCGGCCCAGCC
CAGGAGCGCTATTTATTGCATATTTATTGTTTGGATGTCACCATCAGAGACGAAGGGAAGGGTAGCCAGGGAGGGAGTCCAGCCCAGCTGCCTGCAGGAAGATCTGGCTCAGTCTACTATGGGCAGGG
CCCCCCACCAAGCTGAGCCGAATGGAGACAGCTGAGCTGAGGCCTGACTTTTTCAATAAAACATTGTGTAGTTCTGGGCCTCCTGCTGCCCCGGCTCTGTTTCCCCTGGCGCCAAGAGAAGAAGGCGG
AACTGAACCCAGGCCCAGAGCCGGCTCCCTGAGGCTGTGCCCCTTTCCGGCAATCTCTGGCCACAACCCCCACTGGCCAGGCCGTCCCTCCCACTGGCCCTAGGGCCCCTCCCACTCCCACACCAGAT
AAGGACAGCCCAGTGCCGCTTTCTCTGGCAGTAGGCACCAGGGCTGGAATGGGGCCGCCCGGCTCCCCATGGCAGTGGGTGACGCTGCTGCTGGGGCTGCTGCTCCCTCCTGCCGCCCCCTTCTGGCT
CCTCAATGTGCTCTTCCCCCCGCACACCACGCCCAAGGCTGAGCTCAGTAACCACACACGGCCCGTCATCCTCGGTAAGCCCCCACCAGGCCCCTGATGCACCACGCCAGACCCTGGGGAGCCTGGGC
CCCAGCCCCTGGCAGCTGACCTGGCCAAAGCCCTTCTGCCCTGCATAAGCCCCGACATAAGTACCTGCCCTGGTGTGGGGAGGGGCCAAAAGCTTGTCCCTTAGAGGAATGACGTCCCTTCTCCCACC
ACACTGTGACTCTCAGTTGTCTAACCCAGGGGGGGCGGAGTGGGGGACGGGGTGTGCCTGAGGTCTTGGCTGGGGCATCACAAGCTGTGGTCAGTCACAGCCACACCAGACTCTGGGCCAAGCCCCAC
CACTCCTTCCTTGGCCCCCACCCACCAAGGACAAGATGCCCAGCCCAGGATCGGTGAGCAGGAGAGGCCCATCCATGCCCGGCCCCTATTAGGCCCAGCCCCCATGCCCCCAGACCTATCTGTTCCCA
CCTTGGACTTTGGCAATAAAGGAGCGCCAGACTGGG

hide sequence


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
GenBank Protein	Q9UP95	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001139434 ⟸ NM_001145962
- Peptide Label:	isoform c
- UniProtKB:	B4DF30 (UniProtKB/TrEMBL)
- Sequence:	show sequence MRAGGACRPGAAGTAAGTAAGGWDGGCGGAEPARCLTSPWCQWTGRGAATMTTSRGSVGWTTGSAPSWMTRTEELDIRPKVSSLLGKLVSYTNLTQGAKEHEEAESGEGTRRRAAEAPSMGTLMGVYL PCLQNIFGVILFLRLTWMVGTAGVLQALLIVLICCCCTLLTAISMSAIATNGVVPAGGSYFMISRSLGPEFGGAVGLCFYLGTTFAAAMYILGAIEILLTYIAPPAAIFYPSGAHDTSNATLNNMRVY GTIFLTFMTLVVFVGVKYVNKFASLFLACVIISILSIYAGGIKSIFDPPVFPVCMLGNRTLSRDQFDICAKTAVVDNETVATQLWSFFCHSPNLTTDSCDPYFMLNNVTEIPGIPGAAAGVLQENLWS AYLEKGDIVEKHGLPSADAPSLKESLPLYVVADIATSFTVLVGIFFPSVTGIMAGSNRSGDLRDAQKSIPVGTILAIITTSLVYFSSVVLFGACIEGVVLRDKYGDGVSRNLVVGTLAWPSPWVIVIG SFFSTCGAGLQSLTGAPRLLQAIAKDNIIPFLRVFGHGKVNGEPTWALLLTALIAELGILIASLDMVAPILSMFFLMCYLFVNLACAVQTLLRTPNWRPRFKYYHWALSFLGMSLCLALMFVSSWYYA LVAMLIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKYPRLLTFASQLKAGKGLTIVGSVIQGSFLESYGEAQAAEQTIKNMMEIEKVKGFCQVVV ASKVREGLAHLIQSCGLGGMRHNSVVLGWPYGWRQSEDPRAWKTFIDTVRCTTAAHLALLVPKNIAFYPSNHERYLEGHIDVWWIVHDGGMLMLLPFLLRQHKVWRKCRMRIFTVAQMDDNSIQMKKD LAVFLYHLRLEAEVEVVEMHNSDISAYTYERTLMMEQRSQMLRQMRLTKTEREREAQLVKDRHSALRLESLYSDEEDESAVGADKIQMTWTRDKYMTETWDPSHAPDNFRELVHIKPDQSNVRRMHTA VKLNEVIVTRSHDARLVLLNMPGPPRNSEGDENYMEFLEVLTEGLERVLLVRGGGREVITIYS hide sequence

RefSeq Acc Id:	NP_001139433 ⟸ NM_001145961
- Peptide Label:	isoform b
- UniProtKB:	B4DF30 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPHFTVVPVDGPRRGDYDNLEGLSWVDYGERAELDDSDGHGNHRESSPFLSPLEASRGIDYYDR NLALFEEELDIRPKVSSLLGKLVSYTNLTQGAKEHEEAESGEGTRRRAAEAPSMGTLMGVYLPCLQNIFGVILFLRLTWMVGTAGVLQALLIVLICCCCTLLTAISMSAIATNGVVPAGGSYFMISRS LGPEFGGAVGLCFYLGTTFAAAMYILGAIEILLTYIAPPAAIFYPSGAHDTSNATLNNMRVYGTIFLTFMTLVVFVGVKYVNKFASLFLACVIISILSIYAGGIKSIFDPPVFPVCMLGNRTLSRDQF DICAKTAVVDNETVATQLWSFFCHSPNLTTDSCDPYFMLNNVTEIPGIPGAAAGVLQENLWSAYLEKGDIVEKHGLPSADAPSLKESLPLYVVADIATSFTVLVGIFFPSVTGIMAGSNRSGDLRDAQ KSIPVGTILAIITTSLVYFSSVVLFGACIEGVVLRDKYGDGVSRNLVVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIPFLRVFGHGKVNGEPTWALLLTALIAELGILIASLDM VAPILSMFFLMCYLFVNLACAVQTLLRTPNWRPRFKYYHWALSFLGMSLCLALMFVSSWYYALVAMLIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLLKLDEDL HVKYPRLLTFASQLKAGKGLTIVGSVIQGSFLESYGEAQAAEQTIKNMMEIEKVKGFCQVVVASKVREGLAHLIQSCGLGGMRHNSVVLGWPYGWRQSEDPRAWKTFIDTVRCTTAAHLALLVPKNIA FYPSNHERYLEGHIDVWWIVHDGGMLMLLPFLLRQHKVWRKCRMRIFTVAQMDDNSIQMKKDLAVFLYHLRLEAEHNSDISAYTYERTLMMEQRSQMLRQMRLTKTEREREAQLVKDRHSALRLESLY SDEEDESAVGADKIQMTWTRDKYMTETWDPSHAPDNFRELVHIKPDQSNVRRMHTAVKLNEVIVTRSHDARLVLLNMPGPPRNSEGDENYMEFLEVLTEGLERVLLVRGGGREVITIYS hide sequence

RefSeq Acc Id:	NP_005063 ⟸ NM_005072
- Peptide Label:	isoform a
- UniProtKB:	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), Q9UP95 (UniProtKB/Swiss-Prot), B4DF30 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPHFTVVPVDGPRRGDYDNLEGLSWVDYGERAELDDSDGHGNHRESSPFLSPLEASRGIDYYDRNLALFEEELDIRPKVSSLLGKLVSYTNLTQGAKEHEEAESGEGTRRRAAEAPSMGTLMGVYLPC LQNIFGVILFLRLTWMVGTAGVLQALLIVLICCCCTLLTAISMSAIATNGVVPAGGSYFMISRSLGPEFGGAVGLCFYLGTTFAAAMYILGAIEILLTYIAPPAAIFYPSGAHDTSNATLNNMRVYGT IFLTFMTLVVFVGVKYVNKFASLFLACVIISILSIYAGGIKSIFDPPVFPVCMLGNRTLSRDQFDICAKTAVVDNETVATQLWSFFCHSPNLTTDSCDPYFMLNNVTEIPGIPGAAAGVLQENLWSAY LEKGDIVEKHGLPSADAPSLKESLPLYVVADIATSFTVLVGIFFPSVTGIMAGSNRSGDLRDAQKSIPVGTILAIITTSLVYFSSVVLFGACIEGVVLRDKYGDGVSRNLVVGTLAWPSPWVIVIGSF FSTCGAGLQSLTGAPRLLQAIAKDNIIPFLRVFGHGKVNGEPTWALLLTALIAELGILIASLDMVAPILSMFFLMCYLFVNLACAVQTLLRTPNWRPRFKYYHWALSFLGMSLCLALMFVSSWYYALV AMLIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKYPRLLTFASQLKAGKGLTIVGSVIQGSFLESYGEAQAAEQTIKNMMEIEKVKGFCQVVVAS KVREGLAHLIQSCGLGGMRHNSVVLGWPYGWRQSEDPRAWKTFIDTVRCTTAAHLALLVPKNIAFYPSNHERYLEGHIDVWWIVHDGGMLMLLPFLLRQHKVWRKCRMRIFTVAQMDDNSIQMKKDLA VFLYHLRLEAEVEVVEMHNSDISAYTYERTLMMEQRSQMLRQMRLTKTEREREAQLVKDRHSALRLESLYSDEEDESAVGADKIQMTWTRDKYMTETWDPSHAPDNFRELVHIKPDQSNVRRMHTAVK LNEVIVTRSHDARLVLLNMPGPPRNSEGDENYMEFLEVLTEGLERVLLVRGGGREVITIYS hide sequence

RefSeq Acc Id:	NP_001139436 ⟸ NM_001145964
- Peptide Label:	isoform e
- UniProtKB:	B4DF30 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGDTLSPGHGNHRESSPFLSPLEASRGIDYYDRNLALFEEELDIRPKVSSLLGKLVSYTNLTQG AKEHEEAESGEGTRRRAAEAPSMGTLMGVYLPCLQNIFGVILFLRLTWMVGTAGVLQALLIVLICCCCTLLTAISMSAIATNGVVPAGGSYFMISRSLGPEFGGAVGLCFYLGTTFAAAMYILGAIEI LLTYIAPPAAIFYPSGAHDTSNATLNNMRVYGTIFLTFMTLVVFVGVKYVNKFASLFLACVIISILSIYAGGIKSIFDPPVFPVCMLGNRTLSRDQFDICAKTAVVDNETVATQLWSFFCHSPNLTTD SCDPYFMLNNVTEIPGIPGAAAGVLQENLWSAYLEKGDIVEKHGLPSADAPSLKESLPLYVVADIATSFTVLVGIFFPSVTGIMAGSNRSGDLRDAQKSIPVGTILAIITTSLVYFSSVVLFGACIEG VVLRDKYGDGVSRNLVVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIPFLRVFGHGKVNGEPTWALLLTALIAELGILIASLDMVAPILSMFFLMCYLFVNLACAVQTLLRTPNW RPRFKYYHWALSFLGMSLCLALMFVSSWYYALVAMLIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKYPRLLTFASQLKAGKGLTIVGSVIQGSF LESYGEAQAAEQTIKNMMEIEKVKGFCQVVVASKVREGLAHLIQSCGLGGMRHNSVVLGWPYGWRQSEDPRAWKTFIDTVRCTTAAHLALLVPKNIAFYPSNHERYLEGHIDVWWIVHDGGMLMLLPF LLRQHKVWRKCRMRIFTVAQMDDNSIQMKKDLAVFLYHLRLEAEVEVVEMHNSDISAYTYERTLMMEQRSQMLRQMRLTKTEREREAQLVKDRHSALRLESLYSDEEDESAVGADKIQMTWTRDKYMT ETWDPSHAPDNFRELVHIKPDQSNVRRMHTAVKLNEVIVTRSHDARLVLLNMPGPPRNSEGDENYMEFLEVLTEGLERVLLVRGGGREVITIYS hide sequence

RefSeq Acc Id:	NP_001139435 ⟸ NM_001145963
- Peptide Label:	isoform d
- UniProtKB:	B4DF30 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAEGAVCGFVYLEGTAWAVPEDTEPLASCTLGHGNHRESSPFLSPLEASRGIDYYDRNLALFEEELDIRPKVSSLLGKLVSYTNLTQGAKEHEEAESGEGTRRRAAEAPSMGTLMGVYLPCLQNIFG VILFLRLTWMVGTAGVLQALLIVLICCCCTLLTAISMSAIATNGVVPAGGSYFMISRSLGPEFGGAVGLCFYLGTTFAAAMYILGAIEILLTYIAPPAAIFYPSGAHDTSNATLNNMRVYGTIFLTFM TLVVFVGVKYVNKFASLFLACVIISILSIYAGGIKSIFDPPVFPVCMLGNRTLSRDQFDICAKTAVVDNETVATQLWSFFCHSPNLTTDSCDPYFMLNNVTEIPGIPGAAAGVLQENLWSAYLEKGDI VEKHGLPSADAPSLKESLPLYVVADIATSFTVLVGIFFPSVTGIMAGSNRSGDLRDAQKSIPVGTILAIITTSLVYFSSVVLFGACIEGVVLRDKYGDGVSRNLVVGTLAWPSPWVIVIGSFFSTCGA GLQSLTGAPRLLQAIAKDNIIPFLRVFGHGKVNGEPTWALLLTALIAELGILIASLDMVAPILSMFFLMCYLFVNLACAVQTLLRTPNWRPRFKYYHWALSFLGMSLCLALMFVSSWYYALVAMLIAG MIYKYIEYQGAEKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKYPRLLTFASQLKAGKGLTIVGSVIQGSFLESYGEAQAAEQTIKNMMEIEKVKGFCQVVVASKVREGL AHLIQSCGLGGMRHNSVVLGWPYGWRQSEDPRAWKTFIDTVRCTTAAHLALLVPKNIAFYPSNHERYLEGHIDVWWIVHDGGMLMLLPFLLRQHKVWRKCRMRIFTVAQMDDNSIQMKKDLAVFLYHL RLEAEVEVVEMHNSDISAYTYERTLMMEQRSQMLRQMRLTKTEREREAQLVKDRHSALRLESLYSDEEDESAVGADKIQMTWTRDKYMTETWDPSHAPDNFRELVHIKPDQSNVRRMHTAVKLNEVIV TRSHDARLVLLNMPGPPRNSEGDENYMEFLEVLTEGLERVLLVRGGGREVITIYS hide sequence

Protein Domains

Amino acid permease/ SLC12A SLC12A transporter C-terminal

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

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 Assembly	Chr	Position (strand)	Source
Build 36	16	66,534,176 - 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 Assembly	Chr	Position (strand)	Source
Build 36	16	66,535,161 - 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 Assembly	Chr	Position (strand)	Source
Build 36	16	66,538,406 - 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 Assembly	Chr	Position (strand)	Source
Build 36	16	66,555,311 - 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 Assembly	Chr	Position (strand)	Source
Build 36	16	66,558,411 - 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 Assembly	Chr	Position (strand)	Source
Build 36	16	66,559,911 - 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 Assembly	Chr	Position (strand)	Source
GRCh38	16	67,943,765 - 67,943,825	EPDNEW

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 Assembly	Chr	Position (strand)	Source
GRCh38	16	67,968,613 - 67,968,673	EPDNEW

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 Assembly	Chr	Position (strand)	Source
GRCh38	16	67,969,624 - 67,969,684	EPDNEW

Database	Acc Id	Source(s)
COSMIC	SLC12A4	COSMIC
Ensembl Genes	ENSG00000124067	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000316341	ENTREZGENE
	ENST00000316341.8	UniProtKB/Swiss-Prot
	ENST00000537830	ENTREZGENE
	ENST00000537830.6	UniProtKB/Swiss-Prot
	ENST00000541864	ENTREZGENE
	ENST00000541864.7	UniProtKB/Swiss-Prot
	ENST00000576616.5	UniProtKB/Swiss-Prot
Gene3D-CATH	Amino acid/polyamine transporter I	UniProtKB/Swiss-Prot
GTEx	ENSG00000124067	GTEx
HGNC ID	HGNC:10913	ENTREZGENE
Human Proteome Map	SLC12A4	Human Proteome Map
InterPro	AA-permease/SLC12A_dom	UniProtKB/Swiss-Prot
	KCC1	UniProtKB/Swiss-Prot
	KCL_cotranspt	UniProtKB/Swiss-Prot
	SLC12_C	UniProtKB/Swiss-Prot
	SLC12A_fam	UniProtKB/Swiss-Prot
KEGG Report	hsa:6560	UniProtKB/Swiss-Prot
NCBI Gene	6560	ENTREZGENE
OMIM	604119	OMIM
PANTHER	PTHR11827	UniProtKB/Swiss-Prot
	PTHR11827:SF46	UniProtKB/Swiss-Prot
Pfam	AA_permease	UniProtKB/Swiss-Prot
	SLC12	UniProtKB/Swiss-Prot
PharmGKB	PA35807	PharmGKB
PRINTS	KCLTRNSPORT	UniProtKB/Swiss-Prot
	KCLTRNSPORT1	UniProtKB/Swiss-Prot
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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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