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Gene: PSD3 (pleckstrin and Sec7 domain containing 3) Homo sapiens

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Symbol:

PSD3

Name:

pleckstrin and Sec7 domain containing 3

RGD ID:

1603689

HGNC Page

HGNC:19093

Description:

Predicted to enable guanyl-nucleotide exchange factor activity and phospholipid binding activity. Predicted to be involved in regulation of ARF protein signal transduction. Predicted to be located in membrane. Predicted to be active in glutamatergic synapse; postsynapse; and ruffle membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

ADP-ribosylation factor guanine nucleotide factor 6; DKFZp761K1423; EFA6D; EFA6R; epididymis tissue protein Li 20mP; exchange factor for ADP-ribosylation factor guanine nucleotide factor 6; exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 D; exchange factor for ARF6 D; HCA67; hepatocellular carcinoma-associated antigen 67; PH and SEC7 domain-containing protein 3; pleckstrin homology and SEC7 domain-containing protein 3

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	8	18,527,303 - 19,084,805 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	18,527,303 - 19,084,730 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	18,384,813 - 18,942,315 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	18,429,093 - 18,915,476 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	17,351,147 - 17,835,744 (-)	NCBI		Celera
Cytogenetic Map	8	p22	NCBI
HuRef	8	16,929,317 - 17,412,683 (-)	NCBI		HuRef
CHM1_1	8	18,586,292 - 19,072,714 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	18,794,850 - 19,349,609 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

amphetamine abuse (EXP)

Contracture (IAGP)

hereditary spastic paraplegia 53 (IAGP)

high grade glioma (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(-)-demecolcine (EXP)

(1->4)-beta-D-glucan (ISO)

1,1-dichloroethene (ISO)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP,ISO)

17beta-hydroxy-5alpha-androstan-3-one (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (EXP,ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

4,4'-sulfonyldiphenol (EXP,ISO)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

Aflatoxin B2 alpha (EXP)

all-trans-retinoic acid (EXP)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

caffeine (EXP)

camptothecin (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

cisplatin (EXP)

cobalt dichloride (ISO)

coenzyme Q10 (EXP)

copper(II) sulfate (EXP)

coumestrol (EXP)

cyclosporin A (EXP)

cytarabine (EXP)

diarsenic trioxide (EXP)

diethylstilbestrol (EXP)

dioxygen (ISO)

dorsomorphin (EXP)

endosulfan (ISO)

ethanol (ISO)

folic acid (ISO)

formaldehyde (EXP)

FR900359 (EXP)

fulvestrant (EXP)

glyphosate (ISO)

hydralazine (EXP)

indole-3-methanol (ISO)

lipopolysaccharide (EXP)

manganese(II) chloride (ISO)

melphalan (EXP)

methamphetamine (EXP,ISO)

methoxychlor (ISO)

mocetinostat (EXP)

N,N-diethyl-m-toluamide (ISO)

N-nitrosodiethylamine (ISO)

nickel atom (EXP)

nickel sulfate (EXP)

paracetamol (EXP,ISO)

PCB138 (ISO)

perfluorooctane-1-sulfonic acid (ISO)

permethrin (ISO)

phenylmercury acetate (EXP)

progesterone (EXP)

quercetin (EXP)

SB 431542 (EXP)

silver atom (ISO)

silver(0) (ISO)

sodium arsenite (EXP)

sotorasib (EXP)

sunitinib (EXP)

tacedinaline (EXP)

tamoxifen (ISO)

tert-butyl hydroperoxide (EXP)

tetrachloromethane (ISO)

trametinib (EXP)

trichostatin A (EXP)

triphenyl phosphate (EXP,ISO)

valproic acid (EXP,ISO)

vincristine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

regulation of ARF protein signal transduction (IEA)

Cellular Component

cell projection (IEA)

cleavage furrow (ISO)

glutamatergic synapse (ISO)

membrane (IEA)

plasma membrane (IEA)

postsynapse (ISO)

postsynaptic density (IEA)

ruffle membrane (IBA,IEA,ISS)

synapse (IEA)

Molecular Function

guanyl-nucleotide exchange factor activity (IEA)

phospholipid binding (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

endocytosis pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Flexion contracture (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10231032	PMID:12097419	PMID:12168954	PMID:12477932	PMID:14702039	PMID:15489334	PMID:16270321	PMID:16344560	PMID:17148452	PMID:18649358	PMID:20080650	PMID:20379614
PMID:20736409	PMID:21275903	PMID:21507922	PMID:21873635	PMID:23251661	PMID:23284306	PMID:23776197	PMID:24023788	PMID:24595857	PMID:25296758	PMID:25447205	PMID:27880917
PMID:28237857	PMID:29395067	PMID:29507755	PMID:30639242	PMID:31010829	PMID:31871319	PMID:33957083	PMID:33961781	PMID:34079125	PMID:35102341	PMID:35271311	PMID:35384245
PMID:36215168	PMID:36897256	PMID:36931259	PMID:36976175	PMID:37232246	PMID:38117590	PMID:38803224	PMID:39231216	PMID:39422127

Genomics

Comparative Map Data

PSD3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	18,527,303 - 19,084,805 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	18,527,303 - 19,084,730 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	18,384,813 - 18,942,315 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	18,429,093 - 18,915,476 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	17,351,147 - 17,835,744 (-)	NCBI		Celera
Cytogenetic Map	8	p22	NCBI
HuRef	8	16,929,317 - 17,412,683 (-)	NCBI		HuRef
CHM1_1	8	18,586,292 - 19,072,714 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	18,794,850 - 19,349,609 (-)	NCBI		T2T-CHM13v2.0

Psd3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	68,141,728 - 68,664,740 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	68,141,734 - 68,664,679 (-)	Ensembl		GRCm39 Ensembl
GRCm38	8	67,689,082 - 68,212,063 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	67,689,082 - 68,212,027 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	70,212,981 - 70,498,473 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	70,625,036 - 70,903,563 (-)	NCBI		MGSCv36	mm8
Celera	8	70,232,989 - 70,519,004 (-)	NCBI		Celera
Cytogenetic Map	8	B3.2- B3.3	NCBI
cM Map	8	33.46	NCBI

Psd3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	16	26,238,595 - 26,802,535 (+)	NCBI		GRCr8
mRatBN7.2	16	21,465,643 - 22,035,846 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	16	21,465,639 - 22,034,547 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	16	23,212,165 - 23,789,414 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	23,447,366 - 23,781,604 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	23,099,943 - 23,673,970 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	16	23,194,137 - 23,662,010 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	16	21,624,379 - 22,176,442 (+)	NCBI		Celera
Cytogenetic Map	16	p14	NCBI

Psd3
(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_004955403	42,451,485 - 42,932,948 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955403	42,442,708 - 42,943,314 (-)	NCBI	ChiLan1.0	ChiLan1.0

PSD3
(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	7	37,011,500 - 37,725,363 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	12,736,722 - 13,464,979 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	17,758,287 - 18,308,876 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	8	14,706,850 - 15,259,170 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	14,714,575 - 15,258,823 (-)	Ensembl	panpan1.1		panPan2

PSD3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	16	21,328,491 - 21,921,378 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	16	21,336,642 - 21,921,460 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	16	21,835,321 - 22,427,295 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	16	23,062,751 - 23,661,573 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	16	23,062,752 - 23,661,465 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	16	21,428,758 - 21,945,684 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	16	22,014,238 - 22,733,274 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	16	22,064,528 - 22,658,581 (-)	NCBI		UU_Cfam_GSD_1.0

Psd3
(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_024404943	15,250,693 - 15,615,297 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936555	2,963,963 - 3,284,619 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936555	2,955,982 - 3,253,064 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PSD3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	12,758,536 - 13,264,174 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	12,645,743 - 13,267,176 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	13,573,794 - 14,045,089 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PSD3
(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	8	16,623,640 - 17,171,820 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	8	16,628,787 - 17,098,824 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666052	25,081,275 - 25,637,066 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Psd3
(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_004624758	14,483,447 - 14,793,268 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624758	14,474,626 - 14,965,281 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PSD3
91 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000050294]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	copy number loss	See cases [RCV000050297]	Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.3-21.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000050912]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	copy number gain	See cases [RCV000051145]	Chr8:12383584..36370018 [GRCh38] Chr8:12241093..36227536 [GRCh37] Chr8:12285464..36347088 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	copy number gain	See cases [RCV000051206]	Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	copy number gain	See cases [RCV000051110]	Chr8:12728904..41928741 [GRCh38] Chr8:12586413..41786259 [GRCh37] Chr8:12630784..41905416 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	copy number gain	See cases [RCV000053629]	Chr8:12609975..37892000 [GRCh38] Chr8:12467484..37749518 [GRCh37] Chr8:12511855..37868676 [NCBI36] Chr8:8p23.1-11.23	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	copy number gain	See cases [RCV000053630]	Chr8:12609975..43336172 [GRCh38] Chr8:12467484..43191315 [GRCh37] Chr8:12511855..43310472 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]\|See cases [RCV000053631]	Chr8:12609975..43255410 [GRCh38] Chr8:12467484..43110553 [GRCh37] Chr8:12511855..43229710 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	copy number gain	See cases [RCV000053632]	Chr8:12750796..43532444 [GRCh38] Chr8:12608305..43387587 [GRCh37] Chr8:12652676..43506744 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	copy number gain	See cases [RCV000053633]	Chr8:12750796..29445409 [GRCh38] Chr8:12608305..29302926 [GRCh37] Chr8:12652676..29358845 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3	copy number gain	See cases [RCV000053634]	Chr8:12787272..20952389 [GRCh38] Chr8:12644781..20809900 [GRCh37] Chr8:12689152..20854180 [NCBI36] Chr8:8p23.1-21.3	pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	copy number gain	See cases [RCV000053635]	Chr8:14940110..47929925 [GRCh38] Chr8:14797619..48842485 [GRCh37] Chr8:14841990..49005038 [NCBI36] Chr8:8p22-q11.21	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|See cases [RCV000053604]	Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	copy number gain	See cases [RCV000053599]	Chr8:96310..30614703 [GRCh38] Chr8:46310..30472220 [GRCh37] Chr8:36310..30591762 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000053602]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
NM_015310.3(PSD3):c.2217-393A>G	single nucleotide variant	Lung cancer [RCV000107257]	Chr8:18633199 [GRCh38] Chr8:18490709 [GRCh37] Chr8:8p22	uncertain significance
GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3	copy number gain	See cases [RCV000135294]	Chr8:12732530..20436882 [GRCh38] Chr8:12590039..20294393 [GRCh37] Chr8:12634410..20338673 [NCBI36] Chr8:8p23.1-21.3	pathogenic
GRCh38/hg38 8p22-21.3(chr8:18988335-19599269)x3	copy number gain	See cases [RCV000135831]	Chr8:18988335..19599269 [GRCh38] Chr8:18845845..19456780 [GRCh37] Chr8:18890125..19501060 [NCBI36] Chr8:8p22-21.3	benign
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	copy number gain	See cases [RCV000135786]	Chr8:12609975..43673207 [GRCh38] Chr8:12467484..43528350 [GRCh37] Chr8:12511855..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	copy number gain	See cases [RCV000135566]	Chr8:12383584..43673207 [GRCh38] Chr8:12241093..43528350 [GRCh37] Chr8:12285464..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	copy number gain	See cases [RCV000136516]	Chr8:12728904..40169194 [GRCh38] Chr8:12586413..40026713 [GRCh37] Chr8:12630784..40145870 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	copy number gain	See cases [RCV000135967]	Chr8:241530..23198398 [GRCh38] Chr8:191530..23055911 [GRCh37] Chr8:181530..23111856 [NCBI36] Chr8:8p23.3-21.3	pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	copy number gain	See cases [RCV000136026]	Chr8:241605..24656971 [GRCh38] Chr8:191605..24514484 [GRCh37] Chr8:181605..24570374 [NCBI36] Chr8:8p23.3-21.2	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	copy number gain	See cases [RCV000136825]	Chr8:12725750..30180521 [GRCh38] Chr8:12583259..30038037 [GRCh37] Chr8:12627630..30157579 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p22(chr8:18081979-18646740)x3	copy number gain	See cases [RCV000137325]	Chr8:18081979..18646740 [GRCh38] Chr8:17939488..18504250 [GRCh37] Chr8:17983768..18548530 [NCBI36] Chr8:8p22	likely pathogenic\|uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	copy number gain	See cases [RCV000137249]	Chr8:12182421..43673207 [GRCh38] Chr8:12039930..43528350 [GRCh37] Chr8:12077339..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	copy number gain	See cases [RCV000138058]	Chr8:12698495..35476082 [GRCh38] Chr8:12556004..35333600 [GRCh37] Chr8:12600375..35453142 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	copy number gain	See cases [RCV000137807]	Chr8:226452..38021728 [GRCh38] Chr8:176452..37879246 [GRCh37] Chr8:166452..37998403 [NCBI36] Chr8:8p23.3-11.23	pathogenic\|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	copy number gain	See cases [RCV000138831]	Chr8:241605..31091074 [GRCh38] Chr8:191605..30948590 [GRCh37] Chr8:181605..31068132 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p22(chr8:18626254-18884550)x1	copy number loss	See cases [RCV000138676]	Chr8:18626254..18884550 [GRCh38] Chr8:18483764..18742060 [GRCh37] Chr8:18528044..18786340 [NCBI36] Chr8:8p22	uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	copy number gain	See cases [RCV000138643]	Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	copy number gain	See cases [RCV000138244]	Chr8:12382844..28625564 [GRCh38] Chr8:12240353..28483081 [GRCh37] Chr8:12284724..28539000 [NCBI36] Chr8:8p23.1-21.1	pathogenic
GRCh38/hg38 8p22(chr8:18930349-19081676)x3	copy number gain	See cases [RCV000139071]	Chr8:18930349..19081676 [GRCh38] Chr8:18787859..18939186 [GRCh37] Chr8:18832139..18983466 [NCBI36] Chr8:8p22	likely benign
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	copy number gain	See cases [RCV000139891]	Chr8:7141697..38695546 [GRCh38] Chr8:6999219..38553064 [GRCh37] Chr8:6986629..38672221 [NCBI36] Chr8:8p23.1-11.22	pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	copy number gain	See cases [RCV000139770]	Chr8:12729023..39235934 [GRCh38] Chr8:12586532..39093453 [GRCh37] Chr8:12630903..39212610 [NCBI36] Chr8:8p23.1-11.22	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	copy number gain	See cases [RCV000139796]	Chr8:12646123..43686843 [GRCh38] Chr8:12503632..43541986 [GRCh37] Chr8:12548003..43661143 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	copy number gain	See cases [RCV000139549]	Chr8:11851113..37216333 [GRCh38] Chr8:11708622..37073851 [GRCh37] Chr8:11746031..37193009 [NCBI36] Chr8:8p23.1-11.23	pathogenic
GRCh38/hg38 8p22-21.3(chr8:18727799-19351154)x3	copy number gain	See cases [RCV000139721]	Chr8:18727799..19351154 [GRCh38] Chr8:18585309..19208665 [GRCh37] Chr8:18629589..19252945 [NCBI36] Chr8:8p22-21.3	uncertain significance
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	copy number gain	See cases [RCV000141410]	Chr8:226452..34491890 [GRCh38] Chr8:176452..34349408 [GRCh37] Chr8:166452..34468950 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	copy number gain	See cases [RCV000141808]	Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p22-21.3(chr8:18852451-19355561)x3	copy number gain	See cases [RCV000142194]	Chr8:18852451..19355561 [GRCh38] Chr8:18709961..19213072 [GRCh37] Chr8:18754241..19257352 [NCBI36] Chr8:8p22-21.3	uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	copy number gain	See cases [RCV000142858]	Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	copy number loss	See cases [RCV000142516]	Chr8:12383584..29033946 [GRCh38] Chr8:12241093..28891463 [GRCh37] Chr8:12285464..28947382 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	copy number loss	See cases [RCV000142747]	Chr8:18972996..33619264 [GRCh38] Chr8:18830506..33476782 [GRCh37] Chr8:18874786..33596324 [NCBI36] Chr8:8p22-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000148092]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	copy number gain	See cases [RCV000143508]	Chr8:12633490..40685533 [GRCh38] Chr8:12490999..40543052 [GRCh37] Chr8:12535370..40662209 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000148249]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000148237]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	copy number loss	See cases [RCV000148252]	Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.2-21.1	pathogenic
GRCh37/hg19 8p22(chr8:17793168-18457910)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207316]	Chr8:17793168..18457910 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	copy number gain	See cases [RCV000511325]	Chr8:12528482..39593802 [GRCh37] Chr8:8p23.1-11.22	pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	copy number gain	See cases [RCV000239945]	Chr8:12580132..26774307 [GRCh37] Chr8:8p23.1-21.2	pathogenic
Single allele	complex	8p inverted duplication/deletion syndrome [RCV002280753]	Chr8:158048..43019304 [GRCh37] Chr8:8p23.3-11.21	pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	copy number gain	Autism [RCV000626542]	Chr8:12580104..25947329 [GRCh37] Chr8:8p23.1-21.2	pathogenic
Single allele	duplication	not provided [RCV000768452]	Chr8:12546855..35816855 [GRCh37] Chr8:8p23.1-12	likely pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3	copy number gain	See cases [RCV000449225]	Chr8:158048..30262760 [GRCh37] Chr8:8p23.3-12	pathogenic
GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)x3	copy number gain	See cases [RCV000446821]	Chr8:15935542..19321304 [GRCh37] Chr8:8p22-21.3	uncertain significance
GRCh37/hg19 8p22-21.3(chr8:18770061-19709425)x3	copy number gain	See cases [RCV000447250]	Chr8:18770061..19709425 [GRCh37] Chr8:8p22-21.3	likely benign
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	copy number loss	See cases [RCV000447428]	Chr8:13091530..24483615 [GRCh37] Chr8:8p22-21.2	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	copy number gain	See cases [RCV000447507]	Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3	copy number gain	See cases [RCV000447909]	Chr8:158048..43786723 [GRCh37] Chr8:8p23.3-11.1	pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	copy number gain	See cases [RCV000447913]	Chr8:12580132..43388233 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p22(chr8:18725030-18888257)x3	copy number gain	See cases [RCV000448474]	Chr8:18725030..18888257 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3	copy number gain	See cases [RCV000510447]	Chr8:11935023..18814062 [GRCh37] Chr8:8p23.1-22	likely pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	copy number loss	not provided [RCV000509389]	Chr8:16992973..32612724 [GRCh37] Chr8:8p22-12	not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	copy number gain	See cases [RCV000510234]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	copy number gain	See cases [RCV000510571]	Chr8:12528482..33684786 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p22-21.3(chr8:18845744-19594010)x3	copy number gain	See cases [RCV000511789]	Chr8:18845744..19594010 [GRCh37] Chr8:8p22-21.3	uncertain significance
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	copy number gain	See cases [RCV000511028]	Chr8:11935023..43824035 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	copy number gain	See cases [RCV000510899]	Chr8:11945855..34875355 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	copy number gain	See cases [RCV000511095]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_015310.4(PSD3):c.2008A>G (p.Thr670Ala)	single nucleotide variant	not specified [RCV004324640]	Chr8:18801285 [GRCh38] Chr8:18658795 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.1673C>T (p.Ser558Phe)	single nucleotide variant	not specified [RCV004289981]	Chr8:18804860 [GRCh38] Chr8:18662370 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p22-21.3(chr8:18831686-19340019)x3	copy number gain	See cases [RCV000512389]	Chr8:18831686..19340019 [GRCh37] Chr8:8p22-21.3	uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	copy number gain	See cases [RCV000512169]	Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3	pathogenic
GRCh37/hg19 8p22(chr8:18316992-18492779)x1	copy number loss	not provided [RCV000682937]	Chr8:18316992..18492779 [GRCh37] Chr8:8p22	likely benign
GRCh37/hg19 8p22(chr8:18539767-18753378)x1	copy number loss	not provided [RCV000682946]	Chr8:18539767..18753378 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	copy number gain	not provided [RCV000683041]	Chr8:8770948..27079636 [GRCh37] Chr8:8p23.1-21.2	pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	copy number gain	not provided [RCV000683042]	Chr8:1825200..24533193 [GRCh37] Chr8:8p23.3-21.2	pathogenic
GRCh37/hg19 8p22(chr8:18669679-18869618)x1	copy number loss	not provided [RCV000682940]	Chr8:18669679..18869618 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p22(chr8:18437638-18543814)x1	copy number loss	not provided [RCV000682929]	Chr8:18437638..18543814 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	copy number gain	not provided [RCV000683043]	Chr8:12552775..35935825 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3	copy number gain	not provided [RCV000747254]	Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3	copy number gain	not provided [RCV000747248]	Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p22(chr8:18728941-18749581)x1	copy number loss	not provided [RCV000747460]	Chr8:18728941..18749581 [GRCh37] Chr8:8p22	benign
GRCh37/hg19 8p22(chr8:18752593-18996630)x3	copy number gain	not provided [RCV000747461]	Chr8:18752593..18996630 [GRCh37] Chr8:8p22	benign
GRCh37/hg19 8p22(chr8:18763357-18996630)x3	copy number gain	not provided [RCV000747462]	Chr8:18763357..18996630 [GRCh37] Chr8:8p22	benign
GRCh37/hg19 8p22(chr8:18856363-18858239)x1	copy number loss	not provided [RCV000747463]	Chr8:18856363..18858239 [GRCh37] Chr8:8p22	benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	copy number gain	not provided [RCV000762735]	Chr8:12556004..34374150 [GRCh37] Chr8:8p23.1-12	likely pathogenic
NM_015310.4(PSD3):c.948C>T (p.Thr316=)	single nucleotide variant	not provided [RCV000926930]	Chr8:18871916 [GRCh38] Chr8:18729426 [GRCh37] Chr8:8p22	likely benign
NM_015310.4(PSD3):c.312C>T (p.Leu104=)	single nucleotide variant	not provided [RCV000893019]	Chr8:18872552 [GRCh38] Chr8:18730062 [GRCh37] Chr8:8p22	likely benign
NM_015310.4(PSD3):c.1925C>A (p.Ala642Glu)	single nucleotide variant	not provided [RCV000949737]	Chr8:18801368 [GRCh38] Chr8:18658878 [GRCh37] Chr8:8p22	benign
NM_015310.4(PSD3):c.441C>T (p.Ser147=)	single nucleotide variant	not provided [RCV000968888]	Chr8:18872423 [GRCh38] Chr8:18729933 [GRCh37] Chr8:8p22	benign
GRCh37/hg19 8p22-21.3(chr8:18367759-19510286)x3	copy number gain	See cases [RCV000790591]	Chr8:18367759..19510286 [GRCh37] Chr8:8p22-21.3	uncertain significance
NM_015310.4(PSD3):c.419C>T (p.Ala140Val)	single nucleotide variant	not provided [RCV000962310]	Chr8:18872445 [GRCh38] Chr8:18729955 [GRCh37] Chr8:8p22	benign
NM_015310.4(PSD3):c.1594A>C (p.Ile532Leu)	single nucleotide variant	not provided [RCV000901030]	Chr8:18867714 [GRCh38] Chr8:18725224 [GRCh37] Chr8:8p22	benign
NM_015310.4(PSD3):c.672C>G (p.Asp224Glu)	single nucleotide variant	not provided [RCV000906586]	Chr8:18872192 [GRCh38] Chr8:18729702 [GRCh37] Chr8:8p22	benign
NM_015310.4(PSD3):c.2009C>T (p.Thr670Ile)	single nucleotide variant	not specified [RCV004289075]	Chr8:18801284 [GRCh38] Chr8:18658794 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p22-21.3(chr8:18753362-19000923)x3	copy number gain	not provided [RCV000849500]	Chr8:18753362..19000923 [GRCh37] Chr8:8p22-21.3	uncertain significance
GRCh37/hg19 8p22(chr8:17575940-18443131)x3	copy number gain	not provided [RCV000848233]	Chr8:17575940..18443131 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p22(chr8:18749192-18834806)x1	copy number loss	not provided [RCV000846045]	Chr8:18749192..18834806 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p22-21.3(chr8:18266233-20864195)x1	copy number loss	not provided [RCV000847806]	Chr8:18266233..20864195 [GRCh37] Chr8:8p22-21.3	uncertain significance
NM_015310.4(PSD3):c.2862C>T (p.Pro954=)	single nucleotide variant	not provided [RCV000892586]	Chr8:18556275 [GRCh38] Chr8:18413785 [GRCh37] Chr8:8p22	benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p22(chr8:18641302-18669765)x3	copy number gain	not provided [RCV000849944]	Chr8:18641302..18669765 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.437T>C (p.Ile146Thr)	single nucleotide variant	Flexion contracture [RCV001007779]	Chr8:18872427 [GRCh38] Chr8:18729937 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.3080G>A (p.Arg1027His)	single nucleotide variant	not specified [RCV004294375]	Chr8:18535807 [GRCh38] Chr8:18393317 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2746C>T (p.Arg916Cys)	single nucleotide variant	not specified [RCV004303710]	Chr8:18572566 [GRCh38] Chr8:18430076 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2024A>G (p.Asp675Gly)	single nucleotide variant	not specified [RCV004299006]	Chr8:18799353 [GRCh38] Chr8:18656863 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.338A>T (p.Asp113Val)	single nucleotide variant	PSD3-related disorder [RCV003940539]\|not provided [RCV000885986]	Chr8:18872526 [GRCh38] Chr8:18730036 [GRCh37] Chr8:8p22	likely benign
NM_015310.4(PSD3):c.1261G>T (p.Val421Phe)	single nucleotide variant	not provided [RCV000974091]	Chr8:18868047 [GRCh38] Chr8:18725557 [GRCh37] Chr8:8p22	benign
NM_015310.4(PSD3):c.1024C>T (p.Arg342Cys)	single nucleotide variant	PSD3-related disorder [RCV003935827]\|not provided [RCV000954118]	Chr8:18871840 [GRCh38] Chr8:18729350 [GRCh37] Chr8:8p22	likely benign
NM_015310.4(PSD3):c.1644G>A (p.Gly548=)	single nucleotide variant	not provided [RCV000956565]	Chr8:18804889 [GRCh38] Chr8:18662399 [GRCh37] Chr8:8p22	benign
NM_015310.4(PSD3):c.1147C>T (p.Arg383Cys)	single nucleotide variant	not provided [RCV000956566]	Chr8:18871717 [GRCh38] Chr8:18729227 [GRCh37] Chr8:8p22	benign
NM_015310.4(PSD3):c.1046G>T (p.Gly349Val)	single nucleotide variant	not provided [RCV000958132]	Chr8:18871818 [GRCh38] Chr8:18729328 [GRCh37] Chr8:8p22	benign
GRCh37/hg19 8p22-21.3(chr8:18827276-19340019)x3	copy number gain	not provided [RCV001259485]	Chr8:18827276..19340019 [GRCh37] Chr8:8p22-21.3	likely benign
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	copy number gain	not provided [RCV001260030]	Chr8:12528482..29886483 [GRCh37] Chr8:8p23.1-12	likely pathogenic
GRCh37/hg19 8p22(chr8:18729346-18814062)x1	copy number loss	not provided [RCV001259480]	Chr8:18729346..18814062 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p22(chr8:17878070-18529463)x3	copy number gain	not provided [RCV001259481]	Chr8:17878070..18529463 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	copy number gain	Abnormal fetal cardiovascular morphology [RCV001291977]	Chr8:176814..43396776 [GRCh37] Chr8:8p23.3-11.1	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	copy number gain	Polydactyly [RCV002280629]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p22-21.3(chr8:18444762-19535758)x3	copy number gain	not provided [RCV001832880]	Chr8:18444762..19535758 [GRCh37] Chr8:8p22-21.3	uncertain significance
GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)	copy number gain	not specified [RCV002053754]	Chr8:15935542..19321304 [GRCh37] Chr8:8p22-21.3	uncertain significance
GRCh37/hg19 8p22-21.3(chr8:18753838-19044726)x3	copy number gain	not provided [RCV001829239]	Chr8:18753838..19044726 [GRCh37] Chr8:8p22-21.3	uncertain significance
NC_000008.10:g.(?_16850399)_(20112692_?)dup	duplication	Hereditary spastic paraplegia 53 [RCV003120735]	Chr8:16850399..20112692 [GRCh37] Chr8:8p22-21.3	uncertain significance
NC_000008.10:g.(?_17747877)_(18544453_?)del	deletion	not provided [RCV001956385]	Chr8:17747877..18544453 [GRCh37] Chr8:8p22	pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	copy number loss	See cases [RCV002286343]	Chr8:158048..30187456 [GRCh37] Chr8:8p23.3-12	pathogenic
Single allele	complex	See cases [RCV002292428]	Chr8:6999114..11935023 [GRCh37] Chr8:8p23.3-11.21	pathogenic
GRCh37/hg19 8p22(chr8:18048191-18471418)x3	copy number gain	not provided [RCV002474771]	Chr8:18048191..18471418 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2055G>T (p.Met685Ile)	single nucleotide variant	not specified [RCV004132926]	Chr8:18799322 [GRCh38] Chr8:18656832 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	copy number loss	not provided [RCV002472557]	Chr8:158049..18936715 [GRCh37] Chr8:8p23.3-22	pathogenic
NM_015310.4(PSD3):c.2348C>G (p.Ala783Gly)	single nucleotide variant	not specified [RCV004219852]	Chr8:18632675 [GRCh38] Chr8:18490185 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2105G>T (p.Cys702Phe)	single nucleotide variant	not specified [RCV004084761]	Chr8:18765516 [GRCh38] Chr8:18623026 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2728T>G (p.Ser910Ala)	single nucleotide variant	not specified [RCV004173495]	Chr8:18572584 [GRCh38] Chr8:18430094 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.3107G>A (p.Arg1036Gln)	single nucleotide variant	not specified [RCV004183768]	Chr8:18535780 [GRCh38] Chr8:18393290 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.3026A>C (p.His1009Pro)	single nucleotide variant	not specified [RCV004129300]	Chr8:18535861 [GRCh38] Chr8:18393371 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.3023C>T (p.Ser1008Leu)	single nucleotide variant	not specified [RCV004080836]	Chr8:18535864 [GRCh38] Chr8:18393374 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2794C>A (p.Leu932Met)	single nucleotide variant	not specified [RCV004246625]	Chr8:18556343 [GRCh38] Chr8:18413853 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.635G>T (p.Ser212Ile)	single nucleotide variant	not specified [RCV004218180]	Chr8:18872229 [GRCh38] Chr8:18729739 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2014G>A (p.Ala672Thr)	single nucleotide variant	not specified [RCV004124322]	Chr8:18801279 [GRCh38] Chr8:18658789 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2726G>A (p.Gly909Asp)	single nucleotide variant	not specified [RCV004157499]	Chr8:18572586 [GRCh38] Chr8:18430096 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.532C>T (p.Arg178Cys)	single nucleotide variant	not specified [RCV004085738]	Chr8:18872332 [GRCh38] Chr8:18729842 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.1657C>T (p.Arg553Trp)	single nucleotide variant	not specified [RCV004165358]	Chr8:18804876 [GRCh38] Chr8:18662386 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.3047C>T (p.Pro1016Leu)	single nucleotide variant	not specified [RCV004130779]	Chr8:18535840 [GRCh38] Chr8:18393350 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2590G>A (p.Val864Met)	single nucleotide variant	not specified [RCV004126342]	Chr8:18575177 [GRCh38] Chr8:18432687 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2120C>A (p.Ala707Glu)	single nucleotide variant	not specified [RCV004152382]	Chr8:18765501 [GRCh38] Chr8:18623011 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.1388C>T (p.Thr463Ile)	single nucleotide variant	not specified [RCV004122435]	Chr8:18867920 [GRCh38] Chr8:18725430 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.3050A>C (p.Asp1017Ala)	single nucleotide variant	not specified [RCV004100021]	Chr8:18535837 [GRCh38] Chr8:18393347 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2833G>A (p.Glu945Lys)	single nucleotide variant	not specified [RCV004210246]	Chr8:18556304 [GRCh38] Chr8:18413814 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.496G>T (p.Val166Phe)	single nucleotide variant	not specified [RCV004099572]	Chr8:18872368 [GRCh38] Chr8:18729878 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2297G>A (p.Arg766His)	single nucleotide variant	not specified [RCV004208323]	Chr8:18632726 [GRCh38] Chr8:18490236 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2558C>G (p.Ser853Cys)	single nucleotide variant	not specified [RCV004132043]	Chr8:18575209 [GRCh38] Chr8:18432719 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.1631G>A (p.Gly544Glu)	single nucleotide variant	not specified [RCV004095970]	Chr8:18867677 [GRCh38] Chr8:18725187 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2755C>G (p.Leu919Val)	single nucleotide variant	not specified [RCV004155088]	Chr8:18572557 [GRCh38] Chr8:18430067 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2125C>G (p.Leu709Val)	single nucleotide variant	not specified [RCV004176528]	Chr8:18765496 [GRCh38] Chr8:18623006 [GRCh37] Chr8:8p22	uncertain significance
NC_000008.10:g.(?_17915043)_(20112692_?)dup	duplication	not provided [RCV003154902]	Chr8:17915043..20112692 [GRCh37] Chr8:8p22-21.3	uncertain significance
NM_015310.4(PSD3):c.2326G>A (p.Asp776Asn)	single nucleotide variant	not specified [RCV004260287]	Chr8:18632697 [GRCh38] Chr8:18490207 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2161G>T (p.Asp721Tyr)	single nucleotide variant	not specified [RCV004270714]	Chr8:18765460 [GRCh38] Chr8:18622970 [GRCh37] Chr8:8p22	uncertain significance
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	copy number loss	Neurodevelopmental disorder [RCV003327729]	Chr8:449893..23854904 [GRCh38] Chr8:8p23.3-21.2	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	copy number loss	Microcephaly [RCV003327707]	Chr8:12721809..30183737 [GRCh38] Chr8:8p23.1-12	pathogenic
NM_015310.4(PSD3):c.1714G>A (p.Glu572Lys)	single nucleotide variant	not specified [RCV004344770]	Chr8:18804819 [GRCh38] Chr8:18662329 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p22(chr8:17782821-18519318)x3	copy number gain	not provided [RCV003484728]	Chr8:17782821..18519318 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p22(chr8:18502293-18603518)x1	copy number loss	not provided [RCV003483019]	Chr8:18502293..18603518 [GRCh37] Chr8:8p22	uncertain significance
Single allele	duplication	not provided [RCV003448693]	Chr8:12530550..43483193 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	copy number gain	not provided [RCV003484713]	Chr8:2201405..41723095 [GRCh37] Chr8:8p23.2-11.21	pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	copy number gain	not provided [RCV003484722]	Chr8:11945856..37902453 [GRCh37] Chr8:8p23.1-11.23	pathogenic
GRCh37/hg19 8p22(chr8:18572341-18814398)x1	copy number loss	not provided [RCV003483020]	Chr8:18572341..18814398 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	copy number gain	not provided [RCV003484724]	Chr8:12560782..38748763 [GRCh37] Chr8:8p23.1-11.22	pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	copy number gain	not provided [RCV003484725]	Chr8:14240573..43824035 [GRCh37] Chr8:8p22-11.1	pathogenic
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	copy number loss	not provided [RCV003483018]	Chr8:12490999..28150620 [GRCh37] Chr8:8p23.1-21.1	pathogenic
NM_015310.4(PSD3):c.1241T>A (p.Ile414Asn)	single nucleotide variant	PSD3-related disorder [RCV003405814]	Chr8:18868067 [GRCh38] Chr8:18725577 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2387A>G (p.His796Arg)	single nucleotide variant	PSD3-related disorder [RCV003391264]	Chr8:18632636 [GRCh38] Chr8:18490146 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.1173A>G (p.Glu391=)	single nucleotide variant	not provided [RCV003436782]	Chr8:18871691 [GRCh38] Chr8:18729201 [GRCh37] Chr8:8p22	likely benign
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	copy number gain	not specified [RCV003986756]	Chr8:158048..41600696 [GRCh37] Chr8:8p23.3-11.21	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not specified [RCV003986742]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_015310.4(PSD3):c.196A>G (p.Met66Val)	single nucleotide variant	not specified [RCV004513064]	Chr8:18872668 [GRCh38] Chr8:18730178 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2606C>G (p.Thr869Ser)	single nucleotide variant	not specified [RCV004513067]	Chr8:18575161 [GRCh38] Chr8:18432671 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2647G>A (p.Glu883Lys)	single nucleotide variant	not specified [RCV004513068]	Chr8:18572665 [GRCh38] Chr8:18430175 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.781C>T (p.His261Tyr)	single nucleotide variant	not specified [RCV004513071]	Chr8:18872083 [GRCh38] Chr8:18729593 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.1712C>A (p.Pro571Gln)	single nucleotide variant	not specified [RCV004513063]	Chr8:18804821 [GRCh38] Chr8:18662331 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2255C>G (p.Thr752Ser)	single nucleotide variant	not specified [RCV004513065]	Chr8:18632768 [GRCh38] Chr8:18490278 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2489A>C (p.Tyr830Ser)	single nucleotide variant	not specified [RCV004513066]	Chr8:18575278 [GRCh38] Chr8:18432788 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.1565C>T (p.Thr522Ile)	single nucleotide variant	PSD3-related disorder [RCV003934470]	Chr8:18867743 [GRCh38] Chr8:18725253 [GRCh37] Chr8:8p22	likely benign
NM_015310.4(PSD3):c.2823G>T (p.Gln941His)	single nucleotide variant	not specified [RCV004513069]	Chr8:18556314 [GRCh38] Chr8:18413824 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.3001G>A (p.Glu1001Lys)	single nucleotide variant	not specified [RCV004513070]	Chr8:18535886 [GRCh38] Chr8:18393396 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2041A>G (p.Thr681Ala)	single nucleotide variant	not specified [RCV004666731]	Chr8:18799336 [GRCh38] Chr8:18656846 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2228A>C (p.Glu743Ala)	single nucleotide variant	not specified [RCV004657638]	Chr8:18632795 [GRCh38] Chr8:18490305 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2327A>G (p.Asp776Gly)	single nucleotide variant	not specified [RCV004657640]	Chr8:18632696 [GRCh38] Chr8:18490206 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.1705G>C (p.Glu569Gln)	single nucleotide variant	not specified [RCV004657641]	Chr8:18804828 [GRCh38] Chr8:18662338 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.1931C>G (p.Ser644Cys)	single nucleotide variant	not specified [RCV004657642]	Chr8:18801362 [GRCh38] Chr8:18658872 [GRCh37] Chr8:8p22	uncertain significance
NC_000008.10:g.(?_17915043)_(20112692_?)del	deletion	not provided [RCV004583317]	Chr8:17915043..20112692 [GRCh37] Chr8:8p22-21.3	pathogenic
NM_015310.4(PSD3):c.2659G>A (p.Gly887Arg)	single nucleotide variant	not specified [RCV004666730]	Chr8:18572653 [GRCh38] Chr8:18430163 [GRCh37] Chr8:8p22	uncertain significance
GRCh37/hg19 8p23.3-21.2(chr8:158049-24812752)x1	copy number loss	not provided [RCV004819357]	Chr8:158049..24812752 [GRCh37] Chr8:8p23.3-21.2	pathogenic
NM_015310.4(PSD3):c.3065C>G (p.Thr1022Ser)	single nucleotide variant	not specified [RCV004851618]	Chr8:18535822 [GRCh38] Chr8:18393332 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2849G>A (p.Arg950His)	single nucleotide variant	not specified [RCV004851619]	Chr8:18556288 [GRCh38] Chr8:18413798 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2548G>A (p.Ala850Thr)	single nucleotide variant	not specified [RCV004851620]	Chr8:18575219 [GRCh38] Chr8:18432729 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2129A>G (p.Gln710Arg)	single nucleotide variant	not specified [RCV004851621]	Chr8:18765492 [GRCh38] Chr8:18623002 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2717C>G (p.Ala906Gly)	single nucleotide variant	not specified [RCV004851622]	Chr8:18572595 [GRCh38] Chr8:18430105 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.1872T>G (p.Phe624Leu)	single nucleotide variant	not specified [RCV004851623]	Chr8:18804560 [GRCh38] Chr8:18662070 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2074C>T (p.His692Tyr)	single nucleotide variant	not specified [RCV004851624]	Chr8:18799303 [GRCh38] Chr8:18656813 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.2305A>T (p.Ser769Cys)	single nucleotide variant	not specified [RCV004851625]	Chr8:18632718 [GRCh38] Chr8:18490228 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.1771C>T (p.Arg591Cys)	single nucleotide variant	not specified [RCV004851617]	Chr8:18804762 [GRCh38] Chr8:18662272 [GRCh37] Chr8:8p22	uncertain significance
NM_015310.4(PSD3):c.1804G>A (p.Asp602Asn)	single nucleotide variant	not specified [RCV004851626]	Chr8:18804729 [GRCh38] Chr8:18662239 [GRCh37] Chr8:8p22	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	13811
Count of miRNA genes:	1417
Interacting mature miRNAs:	1892
Transcripts:	ENST00000286485, ENST00000327040, ENST00000428502, ENST00000440756, ENST00000517971, ENST00000518303, ENST00000518315, ENST00000518963, ENST00000519633, ENST00000519653, ENST00000519851, ENST00000520789, ENST00000520858, ENST00000521027, ENST00000521475, ENST00000521841, ENST00000521878, ENST00000523619
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
596982421	GWAS1101940_H	memory performance QTL GWAS1101940 (human)		0.000009	memory performance		8	18622266	18622267	Human
597338906	GWAS1434980_H	severe acute respiratory syndrome, COVID-19 QTL GWAS1434980 (human)		3e-22	severe acute respiratory syndrome, COVID-19		8	18626988	18626989	Human
597184281	GWAS1280355_H	breast cancer QTL GWAS1280355 (human)		9e-13	breast cancer		8	18600936	18600937	Human
406970693	GWAS619669_H	erythrocyte cadmium measurement QTL GWAS619669 (human)		0.000008	erythrocyte cadmium measurement		8	18755102	18755103	Human
406952388	GWAS601364_H	parental longevity QTL GWAS601364 (human)		0.000004	total life span (VT:0001661)		8	18716409	18716410	Human
597620889	GWAS1677749_H	keratoconus QTL GWAS1677749 (human)		4e-12	keratoconus		8	19046420	19046421	Human
597022237	GWAS1118311_H	interleukin 12 measurement QTL GWAS1118311 (human)		0.000008	interleukin 12 measurement		8	18734830	18734832	Human
597091998	GWAS1188072_H	cognitive decline measurement QTL GWAS1188072 (human)		0.000005	cognitive behavior trait (VT:0010450)		8	18947176	18947177	Human
597315091	GWAS1411165_H	body mass index QTL GWAS1411165 (human)		0.000006	body mass index	body mass index (BMI) (CMO:0000105)	8	18739252	18739253	Human
597192850	GWAS1288924_H	memory performance QTL GWAS1288924 (human)		0.000009	memory performance		8	18636452	18636453	Human
596982430	GWAS1101949_H	memory performance QTL GWAS1101949 (human)		0.00001	memory performance		8	18616307	18616308	Human
596981272	GWAS1100791_H	memory performance QTL GWAS1100791 (human)		0.000001	memory performance		8	18636142	18636143	Human
597192855	GWAS1288929_H	memory performance QTL GWAS1288929 (human)		0.000009	memory performance		8	18636142	18636143	Human
596982426	GWAS1101945_H	memory performance QTL GWAS1101945 (human)		0.000009	memory performance		8	18636393	18636394	Human
597323274	GWAS1419348_H	schizophrenia QTL GWAS1419348 (human)		7e-09	schizophrenia		8	18550348	18550349	Human
597043334	GWAS1139408_H	schizophrenia QTL GWAS1139408 (human)		2e-08	schizophrenia		8	18584841	18584842	Human
597409033	GWAS1505107_H	retinal vasculature measurement QTL GWAS1505107 (human)		2e-09	retina blood vessel morphology trait (VT:0002792)		8	19084065	19084066	Human
596982150	GWAS1101669_H	memory performance QTL GWAS1101669 (human)		0.000008	memory performance		8	18637254	18637255	Human
596980995	GWAS1100514_H	memory performance QTL GWAS1100514 (human)		0.000001	memory performance		8	18636452	18636453	Human
406957654	GWAS606630_H	forced expiratory volume QTL GWAS606630 (human)		0.0000008	forced expiratory volume	forced expiratory volume (CMO:0000254)	8	18816221	18816222	Human
597278592	GWAS1374666_H	testosterone measurement QTL GWAS1374666 (human)		5e-08	testosterone measurement	serum testosterone level (CMO:0000568)	8	18979138	18979139	Human
407049560	GWAS698536_H	suberic acid measurement QTL GWAS698536 (human)		0.000004	suberic acid measurement		8	18785247	18785248	Human
597208837	GWAS1304911_H	protein measurement QTL GWAS1304911 (human)		9e-14	protein measurement		8	18548872	18548873	Human
597323706	GWAS1419780_H	educational attainment QTL GWAS1419780 (human)		8e-09	educational attainment		8	18566080	18566081	Human
596981557	GWAS1101076_H	memory performance QTL GWAS1101076 (human)		0.000003	memory performance		8	18633866	18633867	Human
1298482	BP2_H	Blood pressure QTL 2 (human)	1.8		Blood pressure	diastolic	8	6953256	32953256	Human
596981556	GWAS1101075_H	memory performance QTL GWAS1101075 (human)		0.000003	memory performance		8	18638133	18638134	Human
597323707	GWAS1419781_H	educational attainment QTL GWAS1419781 (human)		0.0000003	educational attainment		8	18827112	18827113	Human
597195194	GWAS1291268_H	memory performance QTL GWAS1291268 (human)		0.000003	memory performance		8	18620212	18620213	Human
597195195	GWAS1291269_H	memory performance QTL GWAS1291269 (human)		0.00001	memory performance		8	18616307	18616308	Human
596984496	GWAS1104015_H	memory performance QTL GWAS1104015 (human)		0.000009	memory performance		8	18636142	18636143	Human
597276732	GWAS1372806_H	Alzheimer disease, polygenic risk score QTL GWAS1372806 (human)		1e-08	Alzheimer disease, polygenic risk score		8	18855410	18855411	Human
596981554	GWAS1101073_H	memory performance QTL GWAS1101073 (human)		0.000003	memory performance		8	18635852	18635853	Human
597223216	GWAS1319290_H	heel bone mineral density, urate measurement QTL GWAS1319290 (human)		9e-11	heel bone mineral density, urate measurement	blood uric acid level (CMO:0000501)	8	18609391	18609392	Human
597195188	GWAS1291262_H	memory performance QTL GWAS1291262 (human)		0.000003	memory performance		8	18635852	18635853	Human
596981560	GWAS1101079_H	memory performance QTL GWAS1101079 (human)		0.000003	memory performance		8	18620212	18620213	Human
597195189	GWAS1291263_H	memory performance QTL GWAS1291263 (human)		0.000003	memory performance		8	18638133	18638134	Human
597195190	GWAS1291264_H	memory performance QTL GWAS1291264 (human)		0.000003	memory performance		8	18633866	18633867	Human
407306743	GWAS955719_H	lymphocyte count QTL GWAS955719 (human)		5e-12	lymphocyte count	blood lymphocyte count (CMO:0000031)	8	18853431	18853432	Human
597093028	GWAS1189102_H	cognitive decline measurement QTL GWAS1189102 (human)		0.0000008	cognitive behavior trait (VT:0010450)		8	18947176	18947177	Human
596972704	GWAS1092223_H	attempted suicide QTL GWAS1092223 (human)		0.000003	attempted suicide		8	18872526	18872527	Human
597212334	GWAS1308408_H	schizophrenia QTL GWAS1308408 (human)		1e-08	schizophrenia		8	18565413	18565414	Human
1558703	SCL6_H	Serum cholesterol level QTL 1 (human)	1.2		Lipid level	HDL cholesterol	8	12468635	38468635	Human
597259939	GWAS1356013_H	schizophrenia QTL GWAS1356013 (human)		0.0000007	schizophrenia		8	18738822	18738823	Human
597143593	GWAS1239667_H	severe acute respiratory syndrome, COVID-19 QTL GWAS1239667 (human)		0.0000002	severe acute respiratory syndrome, COVID-19		8	18626406	18626407	Human
596984491	GWAS1104010_H	memory performance QTL GWAS1104010 (human)		0.000009	memory performance		8	18636452	18636453	Human
597337508	GWAS1433582_H	severe acute respiratory syndrome, COVID-19 QTL GWAS1433582 (human)		1e-09	severe acute respiratory syndrome, COVID-19		8	18942653	18942654	Human
596981845	GWAS1101364_H	memory performance QTL GWAS1101364 (human)		0.000006	memory performance		8	18622377	18622378	Human
597192664	GWAS1288738_H	memory performance QTL GWAS1288738 (human)		0.000004	memory performance		8	18635852	18635853	Human
597077335	GWAS1173409_H	sporadic amyotrophic lateral sclerosis, survival time QTL GWAS1173409 (human)		0.0000003	sporadic amyotrophic lateral sclerosis, survival time		8	18567221	18567222	Human
596981844	GWAS1101363_H	memory performance QTL GWAS1101363 (human)		0.000006	memory performance		8	18635727	18635728	Human
597202650	GWAS1298724_H	memory performance QTL GWAS1298724 (human)		0.000009	memory performance		8	18636393	18636394	Human
407082496	GWAS731472_H	cocaine use measurement QTL GWAS731472 (human)		0.0000002	response to cocaine trait (VT:0010718)		8	18546244	18546245	Human
597274205	GWAS1370279_H	schizophrenia QTL GWAS1370279 (human)		0.000001	schizophrenia		8	18601833	18601834	Human
597357022	GWAS1453096_H	urinary albumin excretion rate, type 1 diabetes mellitus QTL GWAS1453096 (human)		0.000004	urinary albumin excretion rate, type 1 diabetes mellitus	urine albumin excretion rate (CMO:0000757)	8	19065067	19065068	Human
597336028	GWAS1432102_H	severe acute respiratory syndrome, COVID-19 QTL GWAS1432102 (human)		6e-08	severe acute respiratory syndrome, COVID-19		8	18633212	18633213	Human
597202399	GWAS1298473_H	memory performance QTL GWAS1298473 (human)		0.000006	memory performance		8	18635727	18635728	Human
597265105	GWAS1361179_H	schizophrenia QTL GWAS1361179 (human)		0.000004	schizophrenia		8	18614226	18614227	Human
597202642	GWAS1298716_H	memory performance QTL GWAS1298716 (human)		0.000008	memory performance		8	18637254	18637255	Human
597167570	GWAS1263644_H	attempted suicide QTL GWAS1263644 (human)		0.000003	attempted suicide		8	18872526	18872527	Human
597202646	GWAS1298720_H	memory performance QTL GWAS1298720 (human)		0.000009	memory performance		8	18622266	18622267	Human
597201110	GWAS1297184_H	memory performance QTL GWAS1297184 (human)		0.000001	memory performance		8	18636142	18636143	Human
597072601	GWAS1168675_H	schizophrenia QTL GWAS1168675 (human)		0.000002	schizophrenia		8	18565413	18565414	Human
597207500	GWAS1303574_H	protein measurement QTL GWAS1303574 (human)		3e-08	protein measurement		8	18805115	18805116	Human
597075139	GWAS1171213_H	coronary artery calcification QTL GWAS1171213 (human)		0.000005	coronary artery calcification		8	18584539	18584540	Human
597251020	GWAS1347094_H	dementia QTL GWAS1347094 (human)		0.000001	dementia		8	18621018	18621019	Human
597093454	GWAS1189528_H	schizophrenia QTL GWAS1189528 (human)		9e-08	schizophrenia		8	18550348	18550349	Human
406972313	GWAS621289_H	trait in response to paliperidone, schizophrenia symptom severity measurement QTL GWAS621289 (human)		0.000007	trait in response to paliperidone, schizophrenia symptom severity measurement		8	18600936	18600937	Human
597036878	GWAS1132952_H	grey matter volume measurement QTL GWAS1132952 (human)		0.000007	grey matter volume measurement		8	18998853	18998854	Human
597210561	GWAS1306635_H	protein measurement QTL GWAS1306635 (human)		3e-08	protein measurement		8	19012205	19012206	Human
596951375	GWAS1070894_H	dementia QTL GWAS1070894 (human)		0.000001	dementia		8	18621018	18621019	Human
597029067	GWAS1125141_H	sensory perception of sweet taste QTL GWAS1125141 (human)		0.000006	sensory perception of sweet taste		8	18640106	18640107	Human
407005341	GWAS654317_H	longitudinal BMI measurement QTL GWAS654317 (human)		0.000007	longitudinal BMI measurement	body mass index (BMI) (CMO:0000105)	8	18870439	18870440	Human
596980469	GWAS1099988_H	memory performance QTL GWAS1099988 (human)		0.000004	memory performance		8	18635852	18635853	Human
597271673	GWAS1367747_H	magnesium measurement, trait in response to platinum QTL GWAS1367747 (human)		0.000005	magnesium measurement, trait in response to platinum	serum magnesium level (CMO:0000541)	8	18715954	18715955	Human
407078306	GWAS727282_H	cocaine use measurement QTL GWAS727282 (human)		0.0000007	response to cocaine trait (VT:0010718)		8	18546244	18546245	Human
597200881	GWAS1296955_H	memory performance QTL GWAS1296955 (human)		0.000001	memory performance		8	18636452	18636453	Human
597101927	GWAS1198001_H	cognitive function measurement QTL GWAS1198001 (human)		0.0000009	cognitive behavior trait (VT:0010450)		8	18611636	18611637	Human
597252584	GWAS1348658_H	schizophrenia QTL GWAS1348658 (human)		3e-08	schizophrenia		8	18550348	18550349	Human
597437160	GWAS1533234_H	N1-methyladenosine measurement QTL GWAS1533234 (human)		0.000001	N1-methyladenosine measurement		8	18733382	18733383	Human
597215598	GWAS1311672_H	schizophrenia QTL GWAS1311672 (human)		0.000009	schizophrenia		8	18565413	18565414	Human
597202400	GWAS1298474_H	memory performance QTL GWAS1298474 (human)		0.000006	memory performance		8	18622377	18622378	Human
597379937	GWAS1476011_H	neutrophil count QTL GWAS1476011 (human)		0.000004	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	8	18924537	18924538	Human
597158125	GWAS1254199_H	IGA glomerulonephritis QTL GWAS1254199 (human)		0.00001	IGA glomerulonephritis		8	18990524	18990525	Human
597368416	GWAS1464490_H	glucose measurement QTL GWAS1464490 (human)		9e-08	glucose measurement	blood glucose level (CMO:0000046)	8	18774816	18774817	Human
406970942	GWAS619918_H	trait in response to paliperidone, schizophrenia symptom severity measurement QTL GWAS619918 (human)		0.000006	trait in response to paliperidone, schizophrenia symptom severity measurement		8	18600936	18600937	Human

Markers in Region

SHGC-24261

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,656,750 - 18,656,872	UniSTS	GRCh37
Build 36	8	18,701,030 - 18,701,152	RGD	NCBI36
Celera	8	17,621,304 - 17,621,426	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	17,198,277 - 17,198,399	UniSTS
GeneMap99-G3 RH Map	8	914.0	UniSTS

G17274

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,692,583 - 18,692,855	UniSTS	GRCh37
Build 36	8	18,736,863 - 18,737,135	RGD	NCBI36
Celera	8	17,657,146 - 17,657,418	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	17,234,123 - 17,234,395	UniSTS

G20566

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,388,285 - 18,388,493	UniSTS	GRCh37
Build 36	8	18,432,565 - 18,432,773	RGD	NCBI36
Celera	8	17,354,619 - 17,354,827	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	16,932,789 - 16,932,997	UniSTS

A005X11

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,388,285 - 18,388,493	UniSTS	GRCh37
Build 36	8	18,432,565 - 18,432,773	RGD	NCBI36
Celera	8	17,354,619 - 17,354,827	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	16,932,789 - 16,932,997	UniSTS
GeneMap99-GB4 RH Map	8	79.27	UniSTS
NCBI RH Map	8	210.7	UniSTS

RH98309

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,656,750 - 18,656,870	UniSTS	GRCh37
Build 36	8	18,701,030 - 18,701,150	RGD	NCBI36
Celera	8	17,621,304 - 17,621,424	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	17,198,277 - 17,198,397	UniSTS
GeneMap99-GB4 RH Map	8	79.69	UniSTS

RH80712

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,393,207 - 18,393,444	UniSTS	GRCh37
Build 36	8	18,437,487 - 18,437,724	RGD	NCBI36
Celera	8	17,359,543 - 17,359,780	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	16,937,716 - 16,937,953	UniSTS
GeneMap99-GB4 RH Map	8	65.7	UniSTS

SHGC-81254

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,515,580 - 18,515,861	UniSTS	GRCh37
Build 36	8	18,559,860 - 18,560,141	RGD	NCBI36
Celera	8	17,480,160 - 17,480,441	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	17,058,272 - 17,058,553	UniSTS

RH120071

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,657,032 - 18,657,361	UniSTS	GRCh37
Build 36	8	18,701,312 - 18,701,641	RGD	NCBI36
Celera	8	17,621,585 - 17,621,914	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	17,198,558 - 17,198,887	UniSTS

G63025

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,518,582 - 18,518,855	UniSTS	GRCh37
Build 36	8	18,562,862 - 18,563,135	RGD	NCBI36
Celera	8	17,483,162 - 17,483,435	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	17,061,275 - 17,061,548	UniSTS

G63580

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,552,367 - 18,552,649	UniSTS	GRCh37
Build 36	8	18,596,647 - 18,596,929	RGD	NCBI36
Celera	8	17,516,908 - 17,517,190	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	17,094,878 - 17,095,160	UniSTS

D8S297E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,392,134 - 18,392,200	UniSTS	GRCh37
Build 36	8	18,436,414 - 18,436,480	RGD	NCBI36
Celera	8	17,358,469 - 17,358,535	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	16,936,642 - 16,936,708	UniSTS

SHGC-111637

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,463,838 - 18,464,116	UniSTS	GRCh37
Build 36	8	18,508,118 - 18,508,396	RGD	NCBI36
Celera	8	17,428,411 - 17,428,689	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	17,006,538 - 17,006,816	UniSTS

SHGC-112344

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,464,285 - 18,464,590	UniSTS	GRCh37
Build 36	8	18,508,565 - 18,508,870	RGD	NCBI36
Celera	8	17,428,858 - 17,429,163	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	17,006,985 - 17,007,290	UniSTS

RH47419

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,388,236 - 18,388,318	UniSTS	GRCh37
Build 36	8	18,432,516 - 18,432,598	RGD	NCBI36
Celera	8	17,354,570 - 17,354,652	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	16,932,740 - 16,932,822	UniSTS
GeneMap99-GB4 RH Map	8	65.26	UniSTS

CHLC.GGAT12E04

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,812,003 - 18,812,161	UniSTS	GRCh37
Build 36	8	18,856,283 - 18,856,441	RGD	NCBI36
Celera	8	17,776,546 - 17,776,704	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	17,353,493 - 17,353,651	UniSTS
Whitehead-YAC Contig Map	8		UniSTS

ECD19618

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	33,290,874 - 33,291,189	UniSTS	GRCh37
Build 36	22	31,620,874 - 31,621,189	RGD	NCBI36
Celera	22	17,093,154 - 17,093,469	RGD
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	22	q12.3	UniSTS
HuRef	22	16,248,783 - 16,249,098	UniSTS
HuRef	8	17,248,307 - 17,248,622	UniSTS

D8S1591

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,656,664 - 18,656,872	UniSTS	GRCh37
Build 36	8	18,700,944 - 18,701,152	RGD	NCBI36
Celera	8	17,621,218 - 17,621,426	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	17,198,191 - 17,198,399	UniSTS
Whitehead-YAC Contig Map	8		UniSTS

AB056822

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,391,853 - 18,391,956	UniSTS	GRCh37
Build 36	8	18,436,133 - 18,436,236	RGD	NCBI36
Celera	8	17,358,188 - 17,358,291	RGD
HuRef	8	16,936,361 - 16,936,464	UniSTS

D8S1900

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,393,291 - 18,393,471	UniSTS	GRCh37
Build 36	8	18,437,571 - 18,437,751	RGD	NCBI36
Celera	8	17,359,627 - 17,359,807	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	16,937,800 - 16,937,980	UniSTS
Whitehead-YAC Contig Map	8		UniSTS

SHGC-56755

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,736,329 - 18,736,499	UniSTS	GRCh37
Build 36	8	18,780,609 - 18,780,779	RGD	NCBI36
Celera	8	17,700,880 - 17,701,050	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	17,277,814 - 17,277,984	UniSTS

A009G21

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,658,699 - 18,659,236	UniSTS	GRCh37
GRCh37	8	109,468,344 - 109,468,458	UniSTS	GRCh37
Build 36	8	109,537,520 - 109,537,634	RGD	NCBI36
Celera	8	105,655,488 - 105,655,602	RGD
Celera	8	17,623,252 - 17,623,789	UniSTS
HuRef	8	17,200,225 - 17,200,762	UniSTS
HuRef	8	104,789,769 - 104,789,883	UniSTS
HuRef	22	21,375,257 - 21,375,781	UniSTS
GeneMap99-GB4 RH Map	8	445.61	UniSTS

G19219

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,740,156 - 18,740,505	UniSTS	GRCh37
Build 36	8	18,784,436 - 18,784,785	RGD	NCBI36
Celera	8	17,704,704 - 17,705,053	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	17,281,646 - 17,281,995	UniSTS

STS-N25188

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,391,508 - 18,391,672	UniSTS	GRCh37
Build 36	8	18,435,788 - 18,435,952	RGD	NCBI36
Celera	8	17,357,843 - 17,358,007	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	16,936,016 - 16,936,180	UniSTS
GeneMap99-GB4 RH Map	8	79.27	UniSTS
NCBI RH Map	8	207.4	UniSTS

RH35906

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	18,563,319 - 18,563,467	UniSTS	GRCh37
Build 36	8	18,607,599 - 18,607,747	RGD	NCBI36
Celera	8	17,527,873 - 17,528,021	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	17,105,841 - 17,105,989	UniSTS
GeneMap99-GB4 RH Map	8	78.96	UniSTS

Expression

RNA-SEQ Expression

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	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2432	2788	2243	4967	1724	2343	4	621	1834	463	2267	7182	6356	50	3731	850	1738	1609	173	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001362819	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412865	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412867	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412869	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412870	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412871	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412873	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412874	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412875	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412876	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412877	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412879	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412880	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412881	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412882	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412883	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412884	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412885	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412886	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412887	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412888	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412889	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412890	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412891	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412892	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412893	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
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Ensembl Acc Id:

ENST00000286485 ⟹ ENSP00000286485

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,530,710 - 18,808,876 (-)	Ensembl

Ensembl Acc Id:

ENST00000327040 ⟹ ENSP00000324127

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,527,303 - 19,013,703 (-)	Ensembl

Ensembl Acc Id:

ENST00000428502 ⟹ ENSP00000393228

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,530,711 - 18,684,099 (-)	Ensembl

Ensembl Acc Id:

ENST00000440756 ⟹ ENSP00000401704

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,527,303 - 19,013,686 (-)	Ensembl

Ensembl Acc Id:

ENST00000517971 ⟹ ENSP00000430043

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,799,298 - 18,808,867 (-)	Ensembl

Ensembl Acc Id:

ENST00000518303

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,800,997 - 18,854,336 (-)	Ensembl

Ensembl Acc Id:

ENST00000518315 ⟹ ENSP00000428889

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,535,637 - 18,808,832 (-)	Ensembl

Ensembl Acc Id:

ENST00000518963

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,799,148 - 18,804,867 (-)	Ensembl

Ensembl Acc Id:

ENST00000519633

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,804,360 - 18,808,895 (-)	Ensembl

Ensembl Acc Id:

ENST00000519653

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,786,776 - 18,808,863 (-)	Ensembl

Ensembl Acc Id:

ENST00000519851 ⟹ ENSP00000429069

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,765,449 - 18,854,374 (-)	Ensembl

Ensembl Acc Id:

ENST00000520789

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,924,533 - 18,940,452 (-)	Ensembl

Ensembl Acc Id:

ENST00000520858 ⟹ ENSP00000430744

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,762,885 - 18,804,829 (-)	Ensembl

Ensembl Acc Id:

ENST00000521027 ⟹ ENSP00000427897

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,802,276 - 18,804,874 (-)	Ensembl

Ensembl Acc Id:

ENST00000521475 ⟹ ENSP00000428405

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,936,041 - 19,084,730 (-)	Ensembl

Ensembl Acc Id:

ENST00000521841

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,936,053 - 19,014,460 (-)	Ensembl

Ensembl Acc Id:

ENST00000521878

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,535,720 - 18,684,121 (-)	Ensembl

Ensembl Acc Id:

ENST00000523619 ⟹ ENSP00000430640

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,530,711 - 18,887,034 (-)	Ensembl

Ensembl Acc Id:

ENST00000614430 ⟹ ENSP00000480930

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,530,561 - 18,684,076 (-)	Ensembl

Ensembl Acc Id:

ENST00000615573 ⟹ ENSP00000484565

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	18,530,710 - 18,683,932 (-)	Ensembl

RefSeq Acc Id:

NM_001362819 ⟹ NP_001349748

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 18,887,057 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,151,807 (-)	NCBI

Sequence:

show sequence

GCTGGGCTTCCTGCTGCTGCACTGGGGGACATGGTTACATTAAAGCTAACTCCCGTCATCTCAA
TTATCTCCTTGGAAGTAGTTTTCACAAATATAAAAACGCCCTACGGTGGCTGTTTTCGGTAAGC
TACCAAGGTAGAGAGCGGCAGAGGCAGACAGGGAGAGCAAACGGGAGAACAGGCTGCTTCCGCC
TTTGTGAGAGGGACTGAGGCAGCAGCTCCTCTCGGCTCGGGTTCCAAGTGCTCAAAGTGCTTCC
ATTTCCATCACCGTGTGCAGTGCAGGGCAAAAGGGGCTGCCAGGAAATCTGAAACTAATTTGCT
TCCAGTTGACTAGAACAGCATATTTTGAATTAGCTTGCTTCTTTTTAAGCTAACTTTTCTCAAG
CGTTAAACTGATGAACTGGGCATTTTCTATGATCAATGGGTAACTGCTGGAGCTACAGTAATCT
CTGTGATCATGGAGGAAGCACTTTACTCCCACCAAATGTCACAAATGAATTTCCAGAATATGGG
ACCATGGAGGAAGGTGGAGAAGGCCTAAGGGCTTCTCTGGAATTTGATGGTGAGGCTCTGCCAT
GCCACCCACAAGAGCAGCAGGGTGTCCAGCCTCTTACTGGCTGCCACTCTGGGCTCGACAGTGT
TACAGAAGGACCAAAAGATGTCAGAGAGGCCCCCTCTCAAAGTCATCTCAAGGAACAAAGTTTA
CAGCCCATTGACTCTTTGATTTCAGCTCTGAAAGCCACAGAAGCCAGAATCATTTCCGGAACAT
TACAGGCTACAAAGGTACTGGACCAAGATGCTGTTTCTAGTTTTTCAGTTCAGCAGGTGGAAAA
AGAGCTGGACACTGCCAGTCGTAAAACACAGAGAGTCAACAAAACGCTCCCTGCTGGCCAAAAA
AATTTACCAGAAATACCTCTTTCAGCTGAAGTAACAACGGAGGAAAGTTTTTATTTGAGCATCC
AGAAAGATCTCACCGCGCTGTTAACTGGAGACACTCAGGCAGAGATTTCCCAGATAATGAATAA
TGGGAGGAAAGGGGCTGTCTGTGTGCAGGAGCCATCTTGTCCTTTGGCCTCCCTCGGGAGCTCA
GCAGTGACCTGCCACTCTGCAGGCAGTGTTGGTTTCTTGAAAGAGCAGAGGTCTGCTCTTGGGA
GAGAGCACCCAGGGGGATGTGATCGAAGCAGCTCCATGGGACGCCCAGGCCGGGTCAAACATGT
GGAATTTCAAGGAGTGGAAATACTGTGGACAGGAGGAGACAAGAGAGAGACCCAGCATCCTATA
GATTTTGAGACATCACTGCAAAGAACAGCCTCTCCTGACAGCAAAGAGTCTTCCAAAGTGCCAC
GCCATCTCATCTCATCAGCTGGTTTGTGTAATTCAAGTAGTTTAACTGAGAATGTTTGGGATGA
ATCCTGGAAAGCTCCTTCAGAGAGGCCTGGCACTAGCTCGGGGACATTTTCCCCTGTGCGTCTT
GATGAGAGTGGAGAGGATGAAGTCTTCCTACAGGAAAACAAACAGCATCTTGAGAAGACACCTA
AACCAGAGAGAGACAGGGAAAGGATCAGCGAACAAGAGGAGCACGTTAAGGGGGAAGATGAAGA
CATCCTTGGGCCTGGATATACGGAGGACTCCACCGACGTGTACAGCTCCCAGTTTGAAACCATT
TTGGACAACACTTCTTTATACTACAGTGCAGAGTCCCTGGAGACATTATACTCAGAGCCTGATA
GCTATTTTAGCTTTGAAATGCCCCTCACTCCAATGATACAACAGCGCATTAAAGAAGGTGGTCA
GTTCTTGGAGAGGACATCAGGGGGAGGACATCAGGATATCCTGAGTGTGTCTGCAGATGGTGGC
ATCGTGATGGGCTATTCTAGTGGCGTCACCAATGGGCTGAATGATGCCAGCGACTCCATCTACA
CGAAAGGCACCCCGGAGATTGCTTTCTGGGGAAGCAATGCTGGGGTGAAAACAACACGGCTAGA
AGCTCATTCTGAAATGGGGAGCACTGAAATTTTGGAAAAGGAGACCCCAGAAAATCTCAGTAAT
GGTACCAGCAGCAATGTGGAAGCAGCCAAAAGGTTGGCCAAACGCCTTTATCAGCTGGACAGAT
TCAAAAGATCAGATGTTGCAAAACACCTTGGCAAGAACAACGAATTTAGCAAACTAGTTGCAGA
AGAATATCTGAAGTTTTTTGATTTTACAGGAATGACGCTGGATCAGTCACTCAGGTATTTCTTT
AAAGCATTCTCTCTTGTGGGAGAAACTCAAGAACGAGAGAGAGTTTTAATACACTTCTCCAATA
GATATTTTTATTGTAACCCAGATACCATTGCTTCACAAGATGGAGTCCATTGCCTTACCTGTGC
AATAATGCTTCTTAATACCGATCTACATGGCCACAATATTGGAAAGAAGATGACCTGTCAGGAG
TTCATTGCAAATCTGCAAGGGGTAAATGAGGGTGTTGATTTCTCCAAGGATCTGCTGAAAGCTC
TGTACAACTCAATCAAGAATGAGAAGCTTGAATGGGCAGTAGATGATGAAGAGAAAAAAAAGTC
TCCCTCAGAAAGTACTGAGGAGAAAGCTAACGGAACACATCCAAAGACCATCAGTCGTATTGGA
AGTACTACTAACCCATTTTTGGACATTCCTCATGATCCAAATGCTGCTGTGTACAAAAGTGGAT
TCTTGGCTCGGAAAATTCATGCAGATATGGATGGAAAGAAGACTCCAAGAGGAAAACGAGGATG
GAAAACCTTTTATGCTGTACTGAAGGGAACAGTTCTTTACTTGCAAAAGGATGAATACAAGCCA
GAAAAGGCCTTGTCTGAAGAGGACTTGAAAAACGCTGTGAGTGTGCACCACGCATTGGCATCCA
AGGCCACGGACTATGAGAAGAAACCAAACGTGTTTAAACTTAAAACTGCCGACTGGAGGGTCTT
GCTTTTTCAAACTCAGAGCCCAGAGGAAATGCAAGGGTGGATAAACAAAATCAATTGTGTGGCA
GCTGTATTTTCTGCACCACCATTTCCAGCAGCAATCGGCTCTCAGAAGAAGTTTAGCCGCCCAC
TTCTGCCTGCCACTACAACAAAACTGTCTCAGGAGGAGCAACTGAAGTCACATGAAAGTAAGCT
GAAGCAGATCACCACCGAGCTGGCCGAGCACCGCTCATATCCCCCCGACAAGAAGGTCAAAGCC
AAGGACGTCGATGAGTACAAACTGAAAGACCACTATCTGGAGTTTGAGAAAACCCGCTATGAAA
TGTATGTCAGCATTCTCAAGGAAGGAGGCAAAGAGCTACTGAGTAACGATGAAAGCGAGGCTGC
AGGACTGAAGAAGTCGCACTCGAGTCCTTCGCTGAACCCGGATACTTCTCCAATCACTGCCAAA
GTCAAGCGTAACGTGTCAGAGAGGAAGGATCACCGACCTGAAACACCAAGCATTAAGCAAAAAG
TTACTTAGAGTCCATCTGCGGCCAGGAAGTGCTGGTCATGGAGCAAAATAGGGTTTTTCAAGAT
CTTTCTGGTAATCCGTGAATATATTTAAAAAAAAAAAGTCTGTGACAAAACGGTGCATTAGTAA
TTTTTTCTATTGTATATTTTTGTTAGTTTCTGTACAGATTGTCTTTGCTCTTGATTTCTTTTGC
TTTGATGATTTTTGCAACTTGATAGCTAATGCACCTTTTCTGTGAGGAGGAGGGGATCGTGATT
TCAGAATGAATTATGTATCCCTTCTCTTTTGGTTTTCTCTTGTTTGCAGTCTGCTCAGTTGTTT
TATGTATTCTCATATCAACTGTTAAACTTTTTTTTAAGGTTAAAGAATTTAATCCATTGTGAAA
CACTTAACTGGACAAACTGTAGTTTTAGTAAATTCTAGCTGGAGTTAATATACGCCTTTATATG
TGAAATCTTGCCCAGTCACAGAGGTAGAATTGAGCACTCACAGATGCTCCAGTAAGAATCACAG
TGCTGGGAATCTAGTTGCTCCAATATGAGGCAGCTTCATGTGCAGCTTAGCACTTGTTGTTGAG
ATCGGACCCTGCTGGAAGCAGGGAAAAGAAGCGTGAAGATCGTAGGATTGAGAACTTAGGGAAG
CACATTAGCTTGCTTGAAGTGCTGATTCCATTTCAGCCAAGCAAGGGAAAGAGGAAGTGGAGTC
ATTTTGCCTTTGAAGGCTGAGGAAAGATTGATACCCAGTTAATTTTGTTTGCTAAAGGATGGGG
GCAATAATCGGCCCTTGAGGAGCTGCAGCAGTAGGCATGTGCTCAGTCTGCAGGAATTGTTACC
TCACTCCCACAGGGTCTAGACTAGAAATCCATCATCTCTATCGTTGATATCCTTCCATCCAGGA
ATAGATTTTTCTTACTCTACATATGTGTGTGTGCGTGCGTGTGTGTGCGTGTGTGGGCATGGGG
TTGTGTCCTGGTTGTGATATTGAGGTCTTCCTTCCTAACAAATTAATACTAAAATGAAACAGCT
TTTCTTGTGTCCTTAAGACAAAATAAGGAAGGAAAACGTAGCTGCAGTTGTCCACGATGGATAT
TGGTTCTTTAAAATATATCTGAAAGTAGTAGTCAGAATGAATTATGGTTGGAAAACTGAGGAAT
CTTCTGGTTGCAGGTGCAAAGTGACTTTGTTTATTCTTGTCTCAGTCTCCTTGATAGCCACTTC
ACTCTGCTACTACTCAACTTTCTCCTAAAAATACTTCATCTATTTTCAGTCCTTTCTTTCTGTC
TACTCAAAATGGTTCTATTAACTTTGCAGTCATGAGCTTGTTCCAGTTACAGTCCCTTTGAAGT
TCAGGGTGATAAACAGAATATTCTTCTGTAGAGGAAGAGAAAGGAGTGAAAGTTTAGCCCACTG
AGACCTAGAGCTTTGTGATTTCCTAACCTTGAAACTCTGTAATCCCTAAAGTTAAAATCTCCGC
AAGTGGCACAACTTCAGAACTAATAGTATCACTTTGATTTTTCTTTTTCCTCCCTTAGAAAGTT
TCTCTAGTTCTATAGTTTATTTGTTGAAGGTACTATGACCAAAGAATCAGCTGCTCTACAGGAA
TAGCATGGTTCCAGTGAATTAGAGAAAACCTGCTGTAAAGCCATGGTAGTGTCTAAGTGGTATG
TTATTATGATGTACTAGCATTTATTTACAGAATTATTTATTAACGTTTACTTCCTTCCCCTCTG
TAAATGTCCATGACTATTGCCCAGAGAAGGCTTACCCCTCTCTAGGGTTGCAGTTGCTTTCTTT
GTAATAAGTATTTTGCCACACCTGTAAAAAAAAAAACCTCACTTTTAACTCTCTGCCTTGTTTG
GGTAAAGGCAGTAACTAAGTTTATGTTTCAGAACTGCAAAACAAACAGGATAGTTACCAATATG
GCCCATGTATCAGATTGATTTTTGTAGCCTCTCACTGAATCCAACATATCCACAAGCAAGTTAT
CTGTCTTTCTACCTGATAATCTAAATTATCAGGATATTTGTTTTCTGCCTAAATGTTTATACTA
AGCCGAGGGGAGAGAGGTACCTAGACCATGTCATCTACAAGCTTCAGTAACTAAAGAAAAAGGA
ACTTCCCTGAGTGGCTTGAATGTGTTTGCCCACAGTCTATATCTATGTATATAGAATGTCTGTA
TGTATTTTACTTATTTAATATACATTGAATGGTACCTTGCTACAGTATTTCTGACATTTAGAGT
AGTGTTGAAATACTCGGCTAGCATCAGCACCACTATAGCACTGTCCGTGTCATATGAGTCACTA
ATATTAACTCCAGGGACTTCTGGATAGGCTAATAGATCATTGGATACGAAGGGCTCTTTTGAAG
CTTCAGTATACCATGTTTGCATAGTTTATCTTTAAAAACAACTTTAAAGGTTCTTTTGTGAGCC
AGGATCTCAGACTGCCGTAGCATGATGCTGTCCATCTTTAGCGCATGGGCTGAGAACACCTCTT
CCCTGAGGCTTCTGAAGGTTGCTGTCTGTCATGAGTGCATGAAGGAGGCCAAGAGTTTATGCTA
TGGGAGGAAACAGTCACTGATTTGCCTAGATTCTGAGAGTCTGGCCCATAGCCAACCACATTTT
CCTTTGGGATAATTTATTTCCTGTGGCATCTAGCCAGAAGAAATTGAGGATGTTTCCTTTCACA
GCTGCTCCAAGCCTGTTGCCCAATTCACGGTACAAGGGAGCACCCCTTCCCTTTCCTCTGAAGG
TACGCCACCCACCTCCGTCGCCCACCTCAGCGCCCAGGAGCCTTGGGACTTCCTTCCATATGAT
AAATCATTCTTCTTCACGTCAATACACTTCATATTAATTTCTAGTACAGAAAATCTTGACAGCT
ATCAGAATGCCTTGGTCATAGTGTTGTTGCAAAATTGACCATACAGGTGGCCCATGTATAAAAT
CTGAATTTTAGGGGTTTGTCCCCACCTCGCATGCTGGCTTTTACAGGGAGGTGTCTGGGATTCC
TCATTAGCAATCAAAACTTAATTACTGGGATGCAGAGTCCTTACTTTATCGCCAGCCCGTAGGC
ATTTCTGAAGTGCACTTTTTTGAAACATCATTTTGCTAACTCTCAGCAGTGTCTAATTAAACTG
AGCAATACTTTTGTGAATTTTAATTAATCTCAGCAAAACCATGATGGGAGAGAGTCCTCTGATG
GAAATGTAGTCCCTGGATTATGTGTAACCTTTTTATTCCTCTTAGATGCAGAGGATAGAAAGCA
TTTTTTGGTGCAGTGGTCTTGTGGCAAACACAAGACCCTCTATGCGTCTCCAACTGTTATCCTA
ATCTAGAAAATGAGGACTGGCCCCTGGGCAAAAGTGACATGAGGAATTTACTCTGGAAGAGGAA
AATCTGGGTGGCTTTCCAAGGCTAAGATAGGTTTGTATTTCACCCTGTGGCCAAGCTACAGAAC
TTCTGAGATTGTGGAAGAATTTTTGCAACCAGCAGGGAAAGAGGCCTCTTACTGCCTAAACACA
AAGTTACACTGAGCTTTTCTACTGTCCTTTGCCTATTGCTCCCTCTATCATGTAAAGATCTGGG
AAGGATGAGAGGCAGGGCCTGCTTGTCATGAGCTGCACTCTTTTCTTTTTAACTAATCATTGAC
AATTGGAAGAAAATTGACGTTAAAGAAGTTTCTCCATTGTCTTACTAACAAAACCTTTTGGGTT
TCATTAATTGTCCTTGAAATTGAGTTCCTTTGGCATTTTTCCTTGCAGTCATCAGTTAAGCATG
TTGCATCCTGAATTCACAGAAGTTTAGCTTTGCAGGTTTGAATCTCTGTAATTTAACTCCCGTG
GACTTGGTCGAGTTTTCAGCAGGTTGGGAGCCACCTCTCTTCATTTCAGCAGTGAGTCATCCCT
TGACTTTTCAAATGACAGAATTTTTTCCAATTGTAAAATTAGCACTGTAAAACAAAGAACCAAA
GTGGCATCCTAAGAGTTGTTAAACCTGAAGTCTAGTTTATGAGGAATTGTCCAAGTTGGAGTTT
AAATAGTATCTGCTTTTGTCTCAAAGCATCTAAGTTATTCTGACAGAAAATGGTAAGTCAGCTT
TGCAGGCAGATGCGCCTCTGGGCCTCCTACCTTGCTCCACAGCTTTCTGGCCATCTTGTCTCCC
AGGCCATGCCACTGCTCTGCCACATGTCAGCAAATTTCTTTCCACCAGTCTTATAGCATCTTAC
ATGATCAAATCATCACAGAATAACCCCGTGATAGATTATTGATAGCAATAGAGAGGGGCTTTGT
CACTGATTTTTCTCTCAGATTCCTTTTCCATCTCTCATCCATAAAGGAAGGACTGAAATCCAAA
GGCATTCTCCTTTTGTACCTACAGTATCCAGAACCCACGTGGGCAGCCTTCTGCTTATGACAAT
AATTGGCCCATTGCATGCAGAGAGAATGTCTTCATAGAGAGAATGTCATTAAATACTTGAATCT
GCATGACAGTTTGACTTGAATGCAACAGCAGGAAAATTTTGCAAGTTACATAATTGTATATACA
GTAGGTTTTCTTAAGTCTCTTCGGTTCATCCTTTGTAATTTGTGTGTGTATCTGTAGTATTGCA
GGCTTTTGGAGACTATTCTTACAGGCAGTATGTCAGTCATCAAAGAAAATGCTGTCACCTGCCA
TTGTTGTATTTGTGGGTATTTATAGTTGTATGTATGTAAATGCATCAGTGTGTAGATTGCATAT
CAGTGTATGGTACATGTACATCAAAATTATTTTTGTCCTTAATCAGTGTGATATGAAAAGCAAG
TACAACCTCATAGGACTGATTATATAATGAAGTTGTTGAGAGTATATATAGTGGTATTGTTTTA
TTAAACTTAAACTCAAATAATATTTTGATTAAAATTTTTAATAAGACTTTATGCTAGAAAATTC
TTTGAGCTTTGAATCACCAGGGCAAAAATGACTTTCAACTAACCTTGTGAATCTTTTGCAGTGT
ACTGTGTGCAATACCAAGGGCATAGCTCCCTGTAATTTGGGAAATACAGAAAGAAAAGAAAAAA
AAAAAAAAAGGCAGCCTGTGCAGTCTTAGTAACTTTAGTATTAAGAGCACTTAAAGTCAAACTG
ACAATTTTGGGCTTATTACAAAATGTGATGCTTTAAAGCACACGTTCTTTATTGTTGTTGTAAT
TAGTCCATAAAAAATATAGCTTTCGGAAGAATTAAGTACCCACCATATCATTTATGTATTTGTG
TATGTTTTACGGGAGATCAAACCACTCTCGTGGTGCCGCATCCGTACTCGCTTGACTTGGAAGA
AATATCACAAGCACTAAAGTATATCAGGGCATCCCAGGATTGGGTACTGTATCCTAGGTTTGCA
GTTGCAGAAATTAGCATCTAGTGTCACAGGTAAAAGAATTTCAGGACCAGGTTTAAACTTTATT
TTAAATATTTTTATACTTAGGTCTCTTTTTCCTGCCTCTCCCCAAAGAAGAGCCACTGGCCTTA
GTTGTTTGAGCTTACTGCTTATATTATAGAGTGTAAATAGGTAACTAGAGACTAAAATTTTATT
AACCAGCATGTTTGGTATATTTAAAGCAGTGACTGAGTGTGTTTGAGTGAGTGGCTGAGTGCAG
TGTCTTTTGTTTAAACACACTGCCTCGTGTCTTTGTAGCTGATTCAGAGAGTTTGAATTGTGGG
GTGGGAGACTAACTTCAGCTCCAGGCTGCAGTAATGTGTTGGTAGTTACACTTGAGGCATTTTT
TTGTTGTTGTTAATTAACTCTATAGTCTCAAACTATTTTTGCAAATATATCATTTTTCCTAATT
GGTTCTTGACGTGCAGTGGACTGGCTCTGTGAATGATTGGCAGGGTCTTAGTTTTGCGAGAGTA
TTTCCTTCTAAGAATTATTGTGATCTGCAGAAACAGCCATTTGATTCAAAAATCATGTAGAAAA
GGAGTAGGAGAAGCAAAACGTTTCATTTTTGGGCCTTAACCATTTGAAATGTTTGGACTTTAAA
CATAAAGCCATGGAGTTTATAAAGCCAAGTAACCATTTGATATGGATAATAATATCTACTCTAG
AGAGAGTATATATATGCACATTGATTTTTAATGCTGTTAAGATACTTTTGTAAAACTGTAGGAA
CAAGAGTAATTAGACCAAATTGAAGCTTAGGGGACAGTAAAGTGGTTGCTTTCCATTTAGGGTA
ACCATGCATGTGGTTAGTCCTCTCCTCCTGAGATTCAGAACCAGTTGACTGTCCCCTTAGGTGT
ATAAGGAGAAAAGTTGACATGTCTGGGACCTCTGACATGTGTACACATGCTTGCACACATGCAC
ACACAGTGAATGTTTTAAGTTATACAAACATAAGACCTTAAGATGCAAAGAGCCAGAATATTCT
AAAGAGGTGATGAACAGAGGGGGTGGAAACTGCATCACAGATGTTTTCCAAGGGCCAGGGTGGA
ATCTGAGCTCTAGTGTCTGACTTTGAGATGCATTATATTTTTAACACATAAATGAGGGGATCCA
TATCACATTCTTTCTTGTGGACCACCAAATTGAAGGCTTTCTTGTAATTCACAAGCAGCAGCTC
TCCAGCATCTCTCCGTAGCCTGGGTGAAGTCCCAGAAGCTGGTGTGCATCATTTTCCAAGGTGG
CAGAGCTGCTTGCTCTGCAGATCATTCCTTTGAGAGAGGAGTACAAGTGAAGAAACAAGGAGGC
ACTTCCTGTAGGAGCACTGATGTGCCTTGTCCACACTCCCCTCTGAGCTTTACTGGTAAGAGAG
CTCCGACTGAACATGCTGAGCAGTTGAGCACTTTTCCATCAGCAACAACAGCGAGGATGGAAAT
GGAAAGGAACCGAACTAAAATGCATTTCCCTTTGCAGGGCAGAGAGCTAAGCTCTTAGGAATAG
TGTTATAGAAATAAGCACCCTAACTTCAATTCCTGAAAATGTTGGTTAATGGAGAGAATTTTGG
AGTTTCACTTAATATTTTCCCATCGGTCGCCATAAATAAGTCTTCAGGCGCTCCTAGAAGAGTC
CCAGCCCAAGGCTCGATTAAGGACCACACTGCAGGTCTGAGGCTCACTGCTCTGAGTCCTGAAC
ACCAGAGCCCTGCAGAGAGTGGTGATAACACATCATCTCTGCAAAGAGGAACCTCTCCCCCGGC
CGCCACTTCACTCAGGCTTCTACTGAGCAGCAAGGACAGCCTGGGTTTCAAATGCCACTTCCCC
TGCTTTAGGGATCCAGGTGTCCTGATAGCGTGACCCTGCTGAGGCAAGGTATCAACTCCGAGAG
TGACTGAGTCACTGAGCGTGGCACATGAACAAACGTCATGACAAAGATTCTCTGAGTGAAGTTA
ACACCACGTATTTTACCTTTGCAAAAAACAAACTGGCACCCTGAGTTCTAACTACGGACGGACG
ATATCTTTGCCTCCACACCCAGATTCCTGGAAATGGCTAACGTTTCCTTTCTAGGGGAAGGGTC
GAGGAATACTCAAGTGCTAGCTTAGCAGCTTTGTTCAGTCCAGATCAGAGCTGTTAGGTAAAGG
CCTAACCACCTCCCTGCAGTCTCTTATATCTCAAGCTTTAGGAACCCATTTCTAAATGTACACT
AGCGGAGAATTTATATTGTCAGCCTTGATTACCATAGGACAGGCAGAAAGGCGATAATTTGTAT
CTTTTAATATAAAAGAAGCTTTTAACTTTTCCAGCCTATTATAATAACTGAGTTATATTCACTG
TGGCTCAAACTAATTGGCATTGTGGAACATTTCTTTACCTTCAAAGTTTTCTCCACCAATCATT
TCAGTTCTATTGCAGTCCTGGTGCCATATGTCCCCTGCAAATTGTGAAAGTAATTAGTGACAAA
ATAGCAGCCTGCTCCTTTTCAATGGCGAAACTGTCGGCATTAGCAGTTTTGGGTAAGCTGGCGG
TACTATAACACGTACTGGAAACCTGTTCCTCATCACCACCTACCAGATTCTGGAAATGCCGTCT
TCTAGAAAACGATGGCGTTTGTGGTGGTCTTCTTTTGAAAGGAACAGTAATTTGTGTGGATATT
GTTAAAGTGTTTAAAGAATATTTTGACAATTAAGTTTACATTTTACAATTGCTTTATTTTTTAT
TAAAATAGTTGTATATAAATATTACCCTATTTCACTGTTGTTCAAGTAAATCTAAACCTTGTAG
ACAAGTGAGTCATCTGATATGTATAGAAGCTGTGATATATAGAGTACATTTATTGTGTAAATGT
TTATGAATATAATTGTTCCTGTGTTTTTATAAGTTGGGGATATTTTGTTGTTTTACGGCAACAA
AATTTATTGCATTTAAATGGTTTTTATGTAATAGAAATCACGCAAAATAGTGAAGGATTTAAAA
TATGTATATGATACATGTAAATGTACAAACTTTAGAAAGAAATAAATCCAACAAATTTCAATCA

hide sequence

RefSeq Acc Id:

NM_001412865 ⟹ NP_001399794

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 19,084,805 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,349,609 (-)	NCBI

RefSeq Acc Id:

NM_001412866 ⟹ NP_001399795

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 19,084,805 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,349,609 (-)	NCBI

RefSeq Acc Id:

NM_001412867 ⟹ NP_001399796

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,774,164 - 19,084,805 (-)	NCBI
T2T-CHM13v2.0	8	19,039,921 - 19,349,609 (-)	NCBI

RefSeq Acc Id:

NM_001412868 ⟹ NP_001399797

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,760,122 - 19,084,805 (-)	NCBI
T2T-CHM13v2.0	8	19,025,875 - 19,349,609 (-)	NCBI

RefSeq Acc Id:

NM_001412869 ⟹ NP_001399798

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,762,888 - 19,084,805 (-)	NCBI
T2T-CHM13v2.0	8	19,028,641 - 19,349,609 (-)	NCBI

RefSeq Acc Id:

NM_001412870 ⟹ NP_001399799

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 19,013,703 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,278,517 (-)	NCBI

RefSeq Acc Id:

NM_001412871 ⟹ NP_001399800

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 19,013,703 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,278,517 (-)	NCBI

RefSeq Acc Id:

NM_001412872 ⟹ NP_001399801

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 19,013,703 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,278,517 (-)	NCBI

RefSeq Acc Id:

NM_001412873 ⟹ NP_001399802

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 19,013,703 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,278,517 (-)	NCBI

RefSeq Acc Id:

NM_001412874 ⟹ NP_001399803

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 19,013,703 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,278,517 (-)	NCBI

RefSeq Acc Id:

NM_001412875 ⟹ NP_001399804

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 19,013,703 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,278,517 (-)	NCBI

RefSeq Acc Id:

NM_001412876 ⟹ NP_001399805

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 19,013,703 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,278,517 (-)	NCBI

RefSeq Acc Id:

NM_001412877 ⟹ NP_001399806

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,760,122 - 19,013,703 (-)	NCBI
T2T-CHM13v2.0	8	19,025,875 - 19,278,517 (-)	NCBI

RefSeq Acc Id:

NM_001412879 ⟹ NP_001399808

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,774,164 - 19,013,703 (-)	NCBI
T2T-CHM13v2.0	8	19,039,921 - 19,278,517 (-)	NCBI

RefSeq Acc Id:

NM_001412880 ⟹ NP_001399809

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,555,458 - 19,013,703 (-)	NCBI
T2T-CHM13v2.0	8	18,823,011 - 19,278,517 (-)	NCBI

RefSeq Acc Id:

NM_001412881 ⟹ NP_001399810

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,762,888 - 19,013,703 (-)	NCBI
T2T-CHM13v2.0	8	19,028,641 - 19,278,517 (-)	NCBI

RefSeq Acc Id:

NM_001412882 ⟹ NP_001399811

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 19,013,703 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,278,517 (-)	NCBI

RefSeq Acc Id:

NM_001412883 ⟹ NP_001399812

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 18,887,057 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,151,807 (-)	NCBI

RefSeq Acc Id:

NM_001412884 ⟹ NP_001399813

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,762,888 - 18,854,363 (-)	NCBI
T2T-CHM13v2.0	8	19,028,641 - 19,119,128 (-)	NCBI

RefSeq Acc Id:

NM_001412885 ⟹ NP_001399814

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 18,854,363 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,119,128 (-)	NCBI

RefSeq Acc Id:

NM_001412886 ⟹ NP_001399815

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 18,854,363 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,119,128 (-)	NCBI

RefSeq Acc Id:

NM_001412887 ⟹ NP_001399816

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,760,122 - 18,854,363 (-)	NCBI
T2T-CHM13v2.0	8	19,025,875 - 19,119,128 (-)	NCBI

RefSeq Acc Id:

NM_001412888 ⟹ NP_001399817

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 18,848,449 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,113,220 (-)	NCBI

RefSeq Acc Id:

NM_001412889 ⟹ NP_001399818

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 18,839,733 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,104,500 (-)	NCBI

RefSeq Acc Id:

NM_001412890 ⟹ NP_001399819

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 18,823,438 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,088,205 (-)	NCBI

RefSeq Acc Id:

NM_001412891 ⟹ NP_001399820

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 18,822,567 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,087,335 (-)	NCBI

RefSeq Acc Id:

NM_001412892 ⟹ NP_001399821

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,799,148 - 18,822,567 (-)	NCBI
T2T-CHM13v2.0	8	19,063,914 - 19,087,335 (-)	NCBI

RefSeq Acc Id:

NM_001412893 ⟹ NP_001399822

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,760,122 - 18,808,867 (-)	NCBI
T2T-CHM13v2.0	8	19,025,875 - 19,073,638 (-)	NCBI

RefSeq Acc Id:

NM_001412894 ⟹ NP_001399823

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,762,888 - 18,808,867 (-)	NCBI
T2T-CHM13v2.0	8	19,028,641 - 19,073,638 (-)	NCBI

RefSeq Acc Id:

NM_001412895 ⟹ NP_001399824

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 18,684,066 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 18,949,809 (-)	NCBI

RefSeq Acc Id:

NM_001412896 ⟹ NP_001399825

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 18,684,066 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 18,949,809 (-)	NCBI

RefSeq Acc Id:

NM_015310 ⟹ NP_056125

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 19,013,703 (-)	NCBI
GRCh37	8	18,384,813 - 18,871,196 (-)	NCBI
Build 36	8	18,429,093 - 18,915,476 (-)	NCBI Archive
Celera	8	17,351,147 - 17,835,744 (-)	RGD
HuRef	8	16,929,317 - 17,412,683 (-)	ENTREZGENE
CHM1_1	8	18,586,292 - 19,072,714 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,278,517 (-)	NCBI

Sequence:

show sequence

GGCAGTCCCGGGAGCTCAACAAAGAGCACGCGGCGCTGGCCGCCGGCACTCGCGCCCTGAGGCT
GCGGCCCCGGAGCGCCCGGCGGCGGTTTCGGCGCGCGGCCGGGCTGGCGATGGAAGATGGAAGG
AAGGAGCGCAGCGGCAGAGACATTTGTTTGGGTGAACAATGCATCTGCACATTCCCAGAGTGTT
GCCAAGGCCAAATATGAATTTTTATTTGGCAGATCTGAAGGGAAAGCTCCAGATACTAGTGATC
ATGGAGGAAGCACTTTACTCCCACCAAATGTCACAAATGAATTTCCAGAATATGGGACCATGGA
GGAAGGTGGAGAAGGCCTAAGGGCTTCTCTGGAATTTGATGGTGAGGCTCTGCCATGCCACCCA
CAAGAGCAGCAGGGTGTCCAGCCTCTTACTGGCTGCCACTCTGGGCTCGACAGTGTTACAGAAG
GACCAAAAGATGTCAGAGAGGCCCCCTCTCAAAGTCATCTCAAGGAACAAAGTTTACAGCCCAT
TGACTCTTTGATTTCAGCTCTGAAAGCCACAGAAGCCAGAATCATTTCCGGAACATTACAGGCT
ACAAAGGTACTGGACCAAGATGCTGTTTCTAGTTTTTCAGTTCAGCAGGTGGAAAAAGAGCTGG
ACACTGCCAGTCGTAAAACACAGAGAGTCAACAAAACGCTCCCTGCTGGCCAAAAAAATTTACC
AGAAATACCTCTTTCAGCTGAAGTAACAACGGAGGAAAGTTTTTATTTGAGCATCCAGAAAGAT
CTCACCGCGCTGTTAACTGGAGACACTCAGGCAGAGATTTCCCAGATAATGAATAATGGGAGGA
AAGGGGCTGTCTGTGTGCAGGAGCCATCTTGTCCTTTGGCCTCCCTCGGGAGCTCAGCAGTGAC
CTGCCACTCTGCAGGCAGTGTTGGTTTCTTGAAAGAGCAGAGGTCTGCTCTTGGGAGAGAGCAC
CCAGGGGGATGTGATCGAAGCAGCTCCATGGGACGCCCAGGCCGGGTCAAACATGTGGAATTTC
AAGGAGTGGAAATACTGTGGACAGGAGGAGACAAGAGAGAGACCCAGCATCCTATAGATTTTGA
GACATCACTGCAAAGAACAGCCTCTCCTGACAGCAAAGAGTCTTCCAAAGTGCCACGCCATCTC
ATCTCATCAGCTGGTTTGTGTAATTCAAGTAGTTTAACTGAGAATGTTTGGGATGAATCCTGGA
AAGCTCCTTCAGAGAGGCCTGGCACTAGCTCGGGGACATTTTCCCCTGTGCGTCTTGATGAGAG
TGGAGAGGATGAAGTCTTCCTACAGGAAAACAAACAGCATCTTGAGAAGACACCTAAACCAGAG
AGAGACAGGGAAAGGATCAGCGAACAAGAGGAGCACGTTAAGGGGGAAGATGAAGACATCCTTG
GGCCTGGATATACGGAGGACTCCACCGACGTGTACAGCTCCCAGTTTGAAACCATTTTGGACAA
CACTTCTTTATACTACAGTGCAGAGTCCCTGGAGACATTATACTCAGAGCCTGATAGCTATTTT
AGCTTTGAAATGCCCCTCACTCCAATGATACAACAGCGCATTAAAGAAGGTGGTCAGTTCTTGG
AGAGGACATCAGGGGGAGGACATCAGGATATCCTGAGTGTGTCTGCAGATGGTGGCATCGTGAT
GGGCTATTCTAGTGGCGTCACCAATGGGCTGAATGATGCCAGCGACTCCATCTACACGAAAGGC
ACCCCGGAGATTGCTTTCTGGGGAAGCAATGCTGGGGTGAAAACAACACGGCTAGAAGCTCATT
CTGAAATGGGGAGCACTGAAATTTTGGAAAAGGAGACCCCAGAAAATCTCAGTAATGGTACCAG
CAGCAATGTGGAAGCAGCCAAAAGGTTGGCCAAACGCCTTTATCAGCTGGACAGATTCAAAAGA
TCAGATGTTGCAAAACACCTTGGCAAGAACAACGAATTTAGCAAACTAGTTGCAGAAGAATATC
TGAAGTTTTTTGATTTTACAGGAATGACGCTGGATCAGTCACTCAGGTATTTCTTTAAAGCATT
CTCTCTTGTGGGAGAAACTCAAGAACGAGAGAGAGTTTTAATACACTTCTCCAATAGATATTTT
TATTGTAACCCAGATACCATTGCTTCACAAGATGGAGTCCATTGCCTTACCTGTGCAATAATGC
TTCTTAATACCGATCTACATGGCCACAATATTGGAAAGAAGATGACCTGTCAGGAGTTCATTGC
AAATCTGCAAGGGGTAAATGAGGGTGTTGATTTCTCCAAGGATCTGCTGAAAGCTCTGTACAAC
TCAATCAAGAATGAGAAGCTTGAATGGGCAGTAGATGATGAAGAGAAAAAAAAGTCTCCCTCAG
AAAGTACTGAGGAGAAAGCTAACGGAACACATCCAAAGACCATCAGTCGTATTGGAAGTACTAC
TAACCCATTTTTGGACATTCCTCATGATCCAAATGCTGCTGTGTACAAAAGTGGATTCTTGGCT
CGGAAAATTCATGCAGATATGGATGGAAAGAAGACTCCAAGAGGAAAACGAGGATGGAAAACCT
TTTATGCTGTACTGAAGGGAACAGTTCTTTACTTGCAAAAGGATGAATACAAGCCAGAAAAGGC
CTTGTCTGAAGAGGACTTGAAAAACGCTGTGAGTGTGCACCACGCATTGGCATCCAAGGCCACG
GACTATGAGAAGAAACCAAACGTGTTTAAACTTAAAACTGCCGACTGGAGGGTCTTGCTTTTTC
AAACTCAGAGCCCAGAGGAAATGCAAGGGTGGATAAACAAAATCAATTGTGTGGCAGCTGTATT
TTCTGCACCACCATTTCCAGCAGCAATCGGCTCTCAGAAGAAGTTTAGCCGCCCACTTCTGCCT
GCCACTACAACAAAACTGTCTCAGGAGGAGCAACTGAAGTCACATGAAAGTAAGCTGAAGCAGA
TCACCACCGAGCTGGCCGAGCACCGCTCATATCCCCCCGACAAGAAGGTCAAAGCCAAGGACGT
CGATGAGTACAAACTGAAAGACCACTATCTGGAGTTTGAGAAAACCCGCTATGAAATGTATGTC
AGCATTCTCAAGGAAGGAGGCAAAGAGCTACTGAGTAACGATGAAAGCGAGGCTGCAGGACTGA
AGAAGTCGCACTCGAGTCCTTCGCTGAACCCGGATACTTCTCCAATCACTGCCAAAGTCAAGCG
TAACGTGTCAGAGAGGAAGGATCACCGACCTGAAACACCAAGCATTAAGCAAAAAGTTACTTAG
AGTCCATCTGCGGCCAGGAAGTGCTGGTCATGGAGCAAAATAGGGTTTTTCAAGATCTTTCTGG
TAATCCGTGAATATATTTAAAAAAAAAAAGTCTGTGACAAAACGGTGCATTAGTAATTTTTTCT
ATTGTATATTTTTGTTAGTTTCTGTACAGATTGTCTTTGCTCTTGATTTCTTTTGCTTTGATGA
TTTTTGCAACTTGATAGCTAATGCACCTTTTCTGTGAGGAGGAGGGGATCGTGATTTCAGAATG
AATTATGTATCCCTTCTCTTTTGGTTTTCTCTTGTTTGCAGTCTGCTCAGTTGTTTTATGTATT
CTCATATCAACTGTTAAACTTTTTTTTAAGGTTAAAGAATTTAATCCATTGTGAAACACTTAAC
TGGACAAACTGTAGTTTTAGTAAATTCTAGCTGGAGTTAATATACGCCTTTATATGTGAAATCT
TGCCCAGTCACAGAGGTAGAATTGAGCACTCACAGATGCTCCAGTAAGAATCACAGTGCTGGGA
ATCTAGTTGCTCCAATATGAGGCAGCTTCATGTGCAGCTTAGCACTTGTTGTTGAGATCGGACC
CTGCTGGAAGCAGGGAAAAGAAGCGTGAAGATCGTAGGATTGAGAACTTAGGGAAGCACATTAG
CTTGCTTGAAGTGCTGATTCCATTTCAGCCAAGCAAGGGAAAGAGGAAGTGGAGTCATTTTGCC
TTTGAAGGCTGAGGAAAGATTGATACCCAGTTAATTTTGTTTGCTAAAGGATGGGGGCAATAAT
CGGCCCTTGAGGAGCTGCAGCAGTAGGCATGTGCTCAGTCTGCAGGAATTGTTACCTCACTCCC
ACAGGGTCTAGACTAGAAATCCATCATCTCTATCGTTGATATCCTTCCATCCAGGAATAGATTT
TTCTTACTCTACATATGTGTGTGTGCGTGCGTGTGTGTGCGTGTGTGGGCATGGGGTTGTGTCC
TGGTTGTGATATTGAGGTCTTCCTTCCTAACAAATTAATACTAAAATGAAACAGCTTTTCTTGT
GTCCTTAAGACAAAATAAGGAAGGAAAACGTAGCTGCAGTTGTCCACGATGGATATTGGTTCTT
TAAAATATATCTGAAAGTAGTAGTCAGAATGAATTATGGTTGGAAAACTGAGGAATCTTCTGGT
TGCAGGTGCAAAGTGACTTTGTTTATTCTTGTCTCAGTCTCCTTGATAGCCACTTCACTCTGCT
ACTACTCAACTTTCTCCTAAAAATACTTCATCTATTTTCAGTCCTTTCTTTCTGTCTACTCAAA
ATGGTTCTATTAACTTTGCAGTCATGAGCTTGTTCCAGTTACAGTCCCTTTGAAGTTCAGGGTG
ATAAACAGAATATTCTTCTGTAGAGGAAGAGAAAGGAGTGAAAGTTTAGCCCACTGAGACCTAG
AGCTTTGTGATTTCCTAACCTTGAAACTCTGTAATCCCTAAAGTTAAAATCTCCGCAAGTGGCA
CAACTTCAGAACTAATAGTATCACTTTGATTTTTCTTTTTCCTCCCTTAGAAAGTTTCTCTAGT
TCTATAGTTTATTTGTTGAAGGTACTATGACCAAAGAATCAGCTGCTCTACAGGAATAGCATGG
TTCCAGTGAATTAGAGAAAACCTGCTGTAAAGCCATGGTAGTGTCTAAGTGGTATGTTATTATG
ATGTACTAGCATTTATTTACAGAATTATTTATTAACGTTTACTTCCTTCCCCTCTGTAAATGTC
CATGACTATTGCCCAGAGAAGGCTTACCCCTCTCTAGGGTTGCAGTTGCTTTCTTTGTAATAAG
TATTTTGCCACACCTGTAAAAAAAAAAACCTCACTTTTAACTCTCTGCCTTGTTTGGGTAAAGG
CAGTAACTAAGTTTATGTTTCAGAACTGCAAAACAAACAGGATAGTTACCAATATGGCCCATGT
ATCAGATTGATTTTTGTAGCCTCTCACTGAATCCAACATATCCACAAGCAAGTTATCTGTCTTT
CTACCTGATAATCTAAATTATCAGGATATTTGTTTTCTGCCTAAATGTTTATACTAAGCCGAGG
GGAGAGAGGTACCTAGACCATGTCATCTACAAGCTTCAGTAACTAAAGAAAAAGGAACTTCCCT
GAGTGGCTTGAATGTGTTTGCCCACAGTCTATATCTATGTATATAGAATGTCTGTATGTATTTT
ACTTATTTAATATACATTGAATGGTACCTTGCTACAGTATTTCTGACATTTAGAGTAGTGTTGA
AATACTCGGCTAGCATCAGCACCACTATAGCACTGTCCGTGTCATATGAGTCACTAATATTAAC
TCCAGGGACTTCTGGATAGGCTAATAGATCATTGGATACGAAGGGCTCTTTTGAAGCTTCAGTA
TACCATGTTTGCATAGTTTATCTTTAAAAACAACTTTAAAGGTTCTTTTGTGAGCCAGGATCTC
AGACTGCCGTAGCATGATGCTGTCCATCTTTAGCGCATGGGCTGAGAACACCTCTTCCCTGAGG
CTTCTGAAGGTTGCTGTCTGTCATGAGTGCATGAAGGAGGCCAAGAGTTTATGCTATGGGAGGA
AACAGTCACTGATTTGCCTAGATTCTGAGAGTCTGGCCCATAGCCAACCACATTTTCCTTTGGG
ATAATTTATTTCCTGTGGCATCTAGCCAGAAGAAATTGAGGATGTTTCCTTTCACAGCTGCTCC
AAGCCTGTTGCCCAATTCACGGTACAAGGGAGCACCCCTTCCCTTTCCTCTGAAGGTACGCCAC
CCACCTCCGTCGCCCACCTCAGCGCCCAGGAGCCTTGGGACTTCCTTCCATATGATAAATCATT
CTTCTTCACGTCAATACACTTCATATTAATTTCTAGTACAGAAAATCTTGACAGCTATCAGAAT
GCCTTGGTCATAGTGTTGTTGCAAAATTGACCATACAGGTGGCCCATGTATAAAATCTGAATTT
TAGGGGTTTGTCCCCACCTCGCATGCTGGCTTTTACAGGGAGGTGTCTGGGATTCCTCATTAGC
AATCAAAACTTAATTACTGGGATGCAGAGTCCTTACTTTATCGCCAGCCCGTAGGCATTTCTGA
AGTGCACTTTTTTGAAACATCATTTTGCTAACTCTCAGCAGTGTCTAATTAAACTGAGCAATAC
TTTTGTGAATTTTAATTAATCTCAGCAAAACCATGATGGGAGAGAGTCCTCTGATGGAAATGTA
GTCCCTGGATTATGTGTAACCTTTTTATTCCTCTTAGATGCAGAGGATAGAAAGCATTTTTTGG
TGCAGTGGTCTTGTGGCAAACACAAGACCCTCTATGCGTCTCCAACTGTTATCCTAATCTAGAA
AATGAGGACTGGCCCCTGGGCAAAAGTGACATGAGGAATTTACTCTGGAAGAGGAAAATCTGGG
TGGCTTTCCAAGGCTAAGATAGGTTTGTATTTCACCCTGTGGCCAAGCTACAGAACTTCTGAGA
TTGTGGAAGAATTTTTGCAACCAGCAGGGAAAGAGGCCTCTTACTGCCTAAACACAAAGTTACA
CTGAGCTTTTCTACTGTCCTTTGCCTATTGCTCCCTCTATCATGTAAAGATCTGGGAAGGATGA
GAGGCAGGGCCTGCTTGTCATGAGCTGCACTCTTTTCTTTTTAACTAATCATTGACAATTGGAA
GAAAATTGACGTTAAAGAAGTTTCTCCATTGTCTTACTAACAAAACCTTTTGGGTTTCATTAAT
TGTCCTTGAAATTGAGTTCCTTTGGCATTTTTCCTTGCAGTCATCAGTTAAGCATGTTGCATCC
TGAATTCACAGAAGTTTAGCTTTGCAGGTTTGAATCTCTGTAATTTAACTCCCGTGGACTTGGT
CGAGTTTTCAGCAGGTTGGGAGCCACCTCTCTTCATTTCAGCAGTGAGTCATCCCTTGACTTTT
CAAATGACAGAATTTTTTCCAATTGTAAAATTAGCACTGTAAAACAAAGAACCAAAGTGGCATC
CTAAGAGTTGTTAAACCTGAAGTCTAGTTTATGAGGAATTGTCCAAGTTGGAGTTTAAATAGTA
TCTGCTTTTGTCTCAAAGCATCTAAGTTATTCTGACAGAAAATGGTAAGTCAGCTTTGCAGGCA
GATGCGCCTCTGGGCCTCCTACCTTGCTCCACAGCTTTCTGGCCATCTTGTCTCCCAGGCCATG
CCACTGCTCTGCCACATGTCAGCAAATTTCTTTCCACCAGTCTTATAGCATCTTACATGATCAA
ATCATCACAGAATAACCCCGTGATAGATTATTGATAGCAATAGAGAGGGGCTTTGTCACTGATT
TTTCTCTCAGATTCCTTTTCCATCTCTCATCCATAAAGGAAGGACTGAAATCCAAAGGCATTCT
CCTTTTGTACCTACAGTATCCAGAACCCACGTGGGCAGCCTTCTGCTTATGACAATAATTGGCC
CATTGCATGCAGAGAGAATGTCTTCATAGAGAGAATGTCATTAAATACTTGAATCTGCATGACA
GTTTGACTTGAATGCAACAGCAGGAAAATTTTGCAAGTTACATAATTGTATATACAGTAGGTTT
TCTTAAGTCTCTTCGGTTCATCCTTTGTAATTTGTGTGTGTATCTGTAGTATTGCAGGCTTTTG
GAGACTATTCTTACAGGCAGTATGTCAGTCATCAAAGAAAATGCTGTCACCTGCCATTGTTGTA
TTTGTGGGTATTTATAGTTGTATGTATGTAAATGCATCAGTGTGTAGATTGCATATCAGTGTAT
GGTACATGTACATCAAAATTATTTTTGTCCTTAATCAGTGTGATATGAAAAGCAAGTACAACCT
CATAGGACTGATTATATAATGAAGTTGTTGAGAGTATATATAGTGGTATTGTTTTATTAAACTT
AAACTCAAATAATATTTTGATTAAAATTTTTAATAAGACTTTATGCTAGAAAATTCTTTGAGCT
TTGAATCACCAGGGCAAAAATGACTTTCAACTAACCTTGTGAATCTTTTGCAGTGTACTGTGTG
CAATACCAAGGGCATAGCTCCCTGTAATTTGGGAAATACAGAAAGAAAAGAAAAAAAAAAAAAA
AGGCAGCCTGTGCAGTCTTAGTAACTTTAGTATTAAGAGCACTTAAAGTCAAACTGACAATTTT
GGGCTTATTACAAAATGTGATGCTTTAAAGCACACGTTCTTTATTGTTGTTGTAATTAGTCCAT
AAAAAATATAGCTTTCGGAAGAATTAAGTACCCACCATATCATTTATGTATTTGTGTATGTTTT
ACGGGAGATCAAACCACTCTCGTGGTGCCGCATCCGTACTCGCTTGACTTGGAAGAAATATCAC
AAGCACTAAAGTATATCAGGGCATCCCAGGATTGGGTACTGTATCCTAGGTTTGCAGTTGCAGA
AATTAGCATCTAGTGTCACAGGTAAAAGAATTTCAGGACCAGGTTTAAACTTTATTTTAAATAT
TTTTATACTTAGGTCTCTTTTTCCTGCCTCTCCCCAAAGAAGAGCCACTGGCCTTAGTTGTTTG
AGCTTACTGCTTATATTATAGAGTGTAAATAGGTAACTAGAGACTAAAATTTTATTAACCAGCA
TGTTTGGTATATTTAAAGCAGTGACTGAGTGTGTTTGAGTGAGTGGCTGAGTGCAGTGTCTTTT
GTTTAAACACACTGCCTCGTGTCTTTGTAGCTGATTCAGAGAGTTTGAATTGTGGGGTGGGAGA
CTAACTTCAGCTCCAGGCTGCAGTAATGTGTTGGTAGTTACACTTGAGGCATTTTTTTGTTGTT
GTTAATTAACTCTATAGTCTCAAACTATTTTTGCAAATATATCATTTTTCCTAATTGGTTCTTG
ACGTGCAGTGGACTGGCTCTGTGAATGATTGGCAGGGTCTTAGTTTTGCGAGAGTATTTCCTTC
TAAGAATTATTGTGATCTGCAGAAACAGCCATTTGATTCAAAAATCATGTAGAAAAGGAGTAGG
AGAAGCAAAACGTTTCATTTTTGGGCCTTAACCATTTGAAATGTTTGGACTTTAAACATAAAGC
CATGGAGTTTATAAAGCCAAGTAACCATTTGATATGGATAATAATATCTACTCTAGAGAGAGTA
TATATATGCACATTGATTTTTAATGCTGTTAAGATACTTTTGTAAAACTGTAGGAACAAGAGTA
ATTAGACCAAATTGAAGCTTAGGGGACAGTAAAGTGGTTGCTTTCCATTTAGGGTAACCATGCA
TGTGGTTAGTCCTCTCCTCCTGAGATTCAGAACCAGTTGACTGTCCCCTTAGGTGTATAAGGAG
AAAAGTTGACATGTCTGGGACCTCTGACATGTGTACACATGCTTGCACACATGCACACACAGTG
AATGTTTTAAGTTATACAAACATAAGACCTTAAGATGCAAAGAGCCAGAATATTCTAAAGAGGT
GATGAACAGAGGGGGTGGAAACTGCATCACAGATGTTTTCCAAGGGCCAGGGTGGAATCTGAGC
TCTAGTGTCTGACTTTGAGATGCATTATATTTTTAACACATAAATGAGGGGATCCATATCACAT
TCTTTCTTGTGGACCACCAAATTGAAGGCTTTCTTGTAATTCACAAGCAGCAGCTCTCCAGCAT
CTCTCCGTAGCCTGGGTGAAGTCCCAGAAGCTGGTGTGCATCATTTTCCAAGGTGGCAGAGCTG
CTTGCTCTGCAGATCATTCCTTTGAGAGAGGAGTACAAGTGAAGAAACAAGGAGGCACTTCCTG
TAGGAGCACTGATGTGCCTTGTCCACACTCCCCTCTGAGCTTTACTGGTAAGAGAGCTCCGACT
GAACATGCTGAGCAGTTGAGCACTTTTCCATCAGCAACAACAGCGAGGATGGAAATGGAAAGGA
ACCGAACTAAAATGCATTTCCCTTTGCAGGGCAGAGAGCTAAGCTCTTAGGAATAGTGTTATAG
AAATAAGCACCCTAACTTCAATTCCTGAAAATGTTGGTTAATGGAGAGAATTTTGGAGTTTCAC
TTAATATTTTCCCATCGGTCGCCATAAATAAGTCTTCAGGCGCTCCTAGAAGAGTCCCAGCCCA
AGGCTCGATTAAGGACCACACTGCAGGTCTGAGGCTCACTGCTCTGAGTCCTGAACACCAGAGC
CCTGCAGAGAGTGGTGATAACACATCATCTCTGCAAAGAGGAACCTCTCCCCCGGCCGCCACTT
CACTCAGGCTTCTACTGAGCAGCAAGGACAGCCTGGGTTTCAAATGCCACTTCCCCTGCTTTAG
GGATCCAGGTGTCCTGATAGCGTGACCCTGCTGAGGCAAGGTATCAACTCCGAGAGTGACTGAG
TCACTGAGCGTGGCACATGAACAAACGTCATGACAAAGATTCTCTGAGTGAAGTTAACACCACG
TATTTTACCTTTGCAAAAAACAAACTGGCACCCTGAGTTCTAACTACGGACGGACGATATCTTT
GCCTCCACACCCAGATTCCTGGAAATGGCTAACGTTTCCTTTCTAGGGGAAGGGTCGAGGAATA
CTCAAGTGCTAGCTTAGCAGCTTTGTTCAGTCCAGATCAGAGCTGTTAGGTAAAGGCCTAACCA
CCTCCCTGCAGTCTCTTATATCTCAAGCTTTAGGAACCCATTTCTAAATGTACACTAGCGGAGA
ATTTATATTGTCAGCCTTGATTACCATAGGACAGGCAGAAAGGCGATAATTTGTATCTTTTAAT
ATAAAAGAAGCTTTTAACTTTTCCAGCCTATTATAATAACTGAGTTATATTCACTGTGGCTCAA
ACTAATTGGCATTGTGGAACATTTCTTTACCTTCAAAGTTTTCTCCACCAATCATTTCAGTTCT
ATTGCAGTCCTGGTGCCATATGTCCCCTGCAAATTGTGAAAGTAATTAGTGACAAAATAGCAGC
CTGCTCCTTTTCAATGGCGAAACTGTCGGCATTAGCAGTTTTGGGTAAGCTGGCGGTACTATAA
CACGTACTGGAAACCTGTTCCTCATCACCACCTACCAGATTCTGGAAATGCCGTCTTCTAGAAA
ACGATGGCGTTTGTGGTGGTCTTCTTTTGAAAGGAACAGTAATTTGTGTGGATATTGTTAAAGT
GTTTAAAGAATATTTTGACAATTAAGTTTACATTTTACAATTGCTTTATTTTTTATTAAAATAG
TTGTATATAAATATTACCCTATTTCACTGTTGTTCAAGTAAATCTAAACCTTGTAGACAAGTGA
GTCATCTGATATGTATAGAAGCTGTGATATATAGAGTACATTTATTGTGTAAATGTTTATGAAT
ATAATTGTTCCTGTGTTTTTATAAGTTGGGGATATTTTGTTGTTTTACGGCAACAAAATTTATT
GCATTTAAATGGTTTTTATGTAATAGAAATCACGCAAAATAGTGAAGGATTTAAAATATGTATA
TGATACATGTAAATGTACAAACTTTAGAAAGAAATAAATCCAACAAATTTCAATCA

hide sequence

RefSeq Acc Id:

NM_206909 ⟹ NP_996792

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,527,303 - 18,808,867 (-)	NCBI
GRCh37	8	18,384,813 - 18,871,196 (-)	NCBI
Build 36	8	18,429,093 - 18,710,685 (-)	NCBI Archive
Celera	8	17,351,147 - 17,835,744 (-)	RGD
HuRef	8	16,929,317 - 17,412,683 (-)	ENTREZGENE
CHM1_1	8	18,586,292 - 18,867,854 (-)	NCBI
T2T-CHM13v2.0	8	18,794,850 - 19,073,638 (-)	NCBI

Sequence:

show sequence

AGTCACTGAACTTGGGAGCTGAAGAATACTGGACGGGGCTTCGGAGAGGAAGGATGGTCCAGGC
GCACCCCAGGGGTTGCGATGGGCTCTTCTTGGTGTCTGTATGGTTGCTGCAATGCTGGGGTGAA
AACAACACGGCTAGAAGCTCATTCTGAAATGGGGAGCACTGAAATTTTGGAAAAGGAGACCCCA
GAAAATCTCAGTAATGGTACCAGCAGCAATGTGGAAGCAGCCAAAAGGTTGGCCAAACGCCTTT
ATCAGCTGGACAGATTCAAAAGATCAGATGTTGCAAAACACCTTGGCAAGAACAACGAATTTAG
CAAACTAGTTGCAGAAGAATATCTGAAGTTTTTTGATTTTACAGGAATGACGCTGGATCAGTCA
CTCAGGTATTTCTTTAAAGCATTCTCTCTTGTGGGAGAAACTCAAGAACGAGAGAGAGTTTTAA
TACACTTCTCCAATAGATATTTTTATTGTAACCCAGATACCATTGCTTCACAAGATGGAGTCCA
TTGCCTTACCTGTGCAATAATGCTTCTTAATACCGATCTACATGGCCACAATATTGGAAAGAAG
ATGACCTGTCAGGAGTTCATTGCAAATCTGCAAGGGGTAAATGAGGGTGTTGATTTCTCCAAGG
ATCTGCTGAAAGCTCTGTACAACTCAATCAAGAATGAGAAGCTTGAATGGGCAGTAGATGATGA
AGAGAAAAAAAAGTCTCCCTCAGAAAGTACTGAGGAGAAAGCTAACGGAACACATCCAAAGACC
ATCAGTCGTATTGGAAGTACTACTAACCCATTTTTGGACATTCCTCATGATCCAAATGCTGCTG
TGTACAAAAGTGGATTCTTGGCTCGGAAAATTCATGCAGATATGGATGGAAAGAAGACTCCAAG
AGGAAAACGAGGATGGAAAACCTTTTATGCTGTACTGAAGGGAACAGTTCTTTACTTGCAAAAG
GATGAATACAAGCCAGAAAAGGCCTTGTCTGAAGAGGACTTGAAAAACGCTGTGAGTGTGCACC
ACGCATTGGCATCCAAGGCCACGGACTATGAGAAGAAACCAAACGTGTTTAAACTTAAAACTGC
CGACTGGAGGGTCTTGCTTTTTCAAACTCAGAGCCCAGAGGAAATGCAAGGGTGGATAAACAAA
ATCAATTGTGTGGCAGCTGTATTTTCTGCACCACCATTTCCAGCAGCAATCGGCTCTCAGAAGA
AGTTTAGCCGCCCACTTCTGCCTGCCACTACAACAAAACTGTCTCAGGAGGAGCAACTGAAGTC
ACATGAAAGTAAGCTGAAGCAGATCACCACCGAGCTGGCCGAGCACCGCTCATATCCCCCCGAC
AAGAAGGTCAAAGCCAAGGACGTCGATGAGTACAAACTGAAAGACCACTATCTGGAGTTTGAGA
AAACCCGCTATGAAATGTATGTCAGCATTCTCAAGGAAGGAGGCAAAGAGCTACTGAGTAACGA
TGAAAGCGAGGCTGCAGGACTGAAGAAGTCGCACTCGAGTCCTTCGCTGAACCCGGATACTTCT
CCAATCACTGCCAAAGTCAAGCGTAACGTGTCAGAGAGGAAGGATCACCGACCTGAAACACCAA
GCATTAAGCAAAAAGTTACTTAGAGTCCATCTGCGGCCAGGAAGTGCTGGTCATGGAGCAAAAT
AGGGTTTTTCAAGATCTTTCTGGTAATCCGTGAATATATTTAAAAAAAAAAAGTCTGTGACAAA
ACGGTGCATTAGTAATTTTTTCTATTGTATATTTTTGTTAGTTTCTGTACAGATTGTCTTTGCT
CTTGATTTCTTTTGCTTTGATGATTTTTGCAACTTGATAGCTAATGCACCTTTTCTGTGAGGAG
GAGGGGATCGTGATTTCAGAATGAATTATGTATCCCTTCTCTTTTGGTTTTCTCTTGTTTGCAG
TCTGCTCAGTTGTTTTATGTATTCTCATATCAACTGTTAAACTTTTTTTTAAGGTTAAAGAATT
TAATCCATTGTGAAACACTTAACTGGACAAACTGTAGTTTTAGTAAATTCTAGCTGGAGTTAAT
ATACGCCTTTATATGTGAAATCTTGCCCAGTCACAGAGGTAGAATTGAGCACTCACAGATGCTC
CAGTAAGAATCACAGTGCTGGGAATCTAGTTGCTCCAATATGAGGCAGCTTCATGTGCAGCTTA
GCACTTGTTGTTGAGATCGGACCCTGCTGGAAGCAGGGAAAAGAAGCGTGAAGATCGTAGGATT
GAGAACTTAGGGAAGCACATTAGCTTGCTTGAAGTGCTGATTCCATTTCAGCCAAGCAAGGGAA
AGAGGAAGTGGAGTCATTTTGCCTTTGAAGGCTGAGGAAAGATTGATACCCAGTTAATTTTGTT
TGCTAAAGGATGGGGGCAATAATCGGCCCTTGAGGAGCTGCAGCAGTAGGCATGTGCTCAGTCT
GCAGGAATTGTTACCTCACTCCCACAGGGTCTAGACTAGAAATCCATCATCTCTATCGTTGATA
TCCTTCCATCCAGGAATAGATTTTTCTTACTCTACATATGTGTGTGTGCGTGCGTGTGTGTGCG
TGTGTGGGCATGGGGTTGTGTCCTGGTTGTGATATTGAGGTCTTCCTTCCTAACAAATTAATAC
TAAAATGAAACAGCTTTTCTTGTGTCCTTAAGACAAAATAAGGAAGGAAAACGTAGCTGCAGTT
GTCCACGATGGATATTGGTTCTTTAAAATATATCTGAAAGTAGTAGTCAGAATGAATTATGGTT
GGAAAACTGAGGAATCTTCTGGTTGCAGGTGCAAAGTGACTTTGTTTATTCTTGTCTCAGTCTC
CTTGATAGCCACTTCACTCTGCTACTACTCAACTTTCTCCTAAAAATACTTCATCTATTTTCAG
TCCTTTCTTTCTGTCTACTCAAAATGGTTCTATTAACTTTGCAGTCATGAGCTTGTTCCAGTTA
CAGTCCCTTTGAAGTTCAGGGTGATAAACAGAATATTCTTCTGTAGAGGAAGAGAAAGGAGTGA
AAGTTTAGCCCACTGAGACCTAGAGCTTTGTGATTTCCTAACCTTGAAACTCTGTAATCCCTAA
AGTTAAAATCTCCGCAAGTGGCACAACTTCAGAACTAATAGTATCACTTTGATTTTTCTTTTTC
CTCCCTTAGAAAGTTTCTCTAGTTCTATAGTTTATTTGTTGAAGGTACTATGACCAAAGAATCA
GCTGCTCTACAGGAATAGCATGGTTCCAGTGAATTAGAGAAAACCTGCTGTAAAGCCATGGTAG
TGTCTAAGTGGTATGTTATTATGATGTACTAGCATTTATTTACAGAATTATTTATTAACGTTTA
CTTCCTTCCCCTCTGTAAATGTCCATGACTATTGCCCAGAGAAGGCTTACCCCTCTCTAGGGTT
GCAGTTGCTTTCTTTGTAATAAGTATTTTGCCACACCTGTAAAAAAAAAAACCTCACTTTTAAC
TCTCTGCCTTGTTTGGGTAAAGGCAGTAACTAAGTTTATGTTTCAGAACTGCAAAACAAACAGG
ATAGTTACCAATATGGCCCATGTATCAGATTGATTTTTGTAGCCTCTCACTGAATCCAACATAT
CCACAAGCAAGTTATCTGTCTTTCTACCTGATAATCTAAATTATCAGGATATTTGTTTTCTGCC
TAAATGTTTATACTAAGCCGAGGGGAGAGAGGTACCTAGACCATGTCATCTACAAGCTTCAGTA
ACTAAAGAAAAAGGAACTTCCCTGAGTGGCTTGAATGTGTTTGCCCACAGTCTATATCTATGTA
TATAGAATGTCTGTATGTATTTTACTTATTTAATATACATTGAATGGTACCTTGCTACAGTATT
TCTGACATTTAGAGTAGTGTTGAAATACTCGGCTAGCATCAGCACCACTATAGCACTGTCCGTG
TCATATGAGTCACTAATATTAACTCCAGGGACTTCTGGATAGGCTAATAGATCATTGGATACGA
AGGGCTCTTTTGAAGCTTCAGTATACCATGTTTGCATAGTTTATCTTTAAAAACAACTTTAAAG
GTTCTTTTGTGAGCCAGGATCTCAGACTGCCGTAGCATGATGCTGTCCATCTTTAGCGCATGGG
CTGAGAACACCTCTTCCCTGAGGCTTCTGAAGGTTGCTGTCTGTCATGAGTGCATGAAGGAGGC
CAAGAGTTTATGCTATGGGAGGAAACAGTCACTGATTTGCCTAGATTCTGAGAGTCTGGCCCAT
AGCCAACCACATTTTCCTTTGGGATAATTTATTTCCTGTGGCATCTAGCCAGAAGAAATTGAGG
ATGTTTCCTTTCACAGCTGCTCCAAGCCTGTTGCCCAATTCACGGTACAAGGGAGCACCCCTTC
CCTTTCCTCTGAAGGTACGCCACCCACCTCCGTCGCCCACCTCAGCGCCCAGGAGCCTTGGGAC
TTCCTTCCATATGATAAATCATTCTTCTTCACGTCAATACACTTCATATTAATTTCTAGTACAG
AAAATCTTGACAGCTATCAGAATGCCTTGGTCATAGTGTTGTTGCAAAATTGACCATACAGGTG
GCCCATGTATAAAATCTGAATTTTAGGGGTTTGTCCCCACCTCGCATGCTGGCTTTTACAGGGA
GGTGTCTGGGATTCCTCATTAGCAATCAAAACTTAATTACTGGGATGCAGAGTCCTTACTTTAT
CGCCAGCCCGTAGGCATTTCTGAAGTGCACTTTTTTGAAACATCATTTTGCTAACTCTCAGCAG
TGTCTAATTAAACTGAGCAATACTTTTGTGAATTTTAATTAATCTCAGCAAAACCATGATGGGA
GAGAGTCCTCTGATGGAAATGTAGTCCCTGGATTATGTGTAACCTTTTTATTCCTCTTAGATGC
AGAGGATAGAAAGCATTTTTTGGTGCAGTGGTCTTGTGGCAAACACAAGACCCTCTATGCGTCT
CCAACTGTTATCCTAATCTAGAAAATGAGGACTGGCCCCTGGGCAAAAGTGACATGAGGAATTT
ACTCTGGAAGAGGAAAATCTGGGTGGCTTTCCAAGGCTAAGATAGGTTTGTATTTCACCCTGTG
GCCAAGCTACAGAACTTCTGAGATTGTGGAAGAATTTTTGCAACCAGCAGGGAAAGAGGCCTCT
TACTGCCTAAACACAAAGTTACACTGAGCTTTTCTACTGTCCTTTGCCTATTGCTCCCTCTATC
ATGTAAAGATCTGGGAAGGATGAGAGGCAGGGCCTGCTTGTCATGAGCTGCACTCTTTTCTTTT
TAACTAATCATTGACAATTGGAAGAAAATTGACGTTAAAGAAGTTTCTCCATTGTCTTACTAAC
AAAACCTTTTGGGTTTCATTAATTGTCCTTGAAATTGAGTTCCTTTGGCATTTTTCCTTGCAGT
CATCAGTTAAGCATGTTGCATCCTGAATTCACAGAAGTTTAGCTTTGCAGGTTTGAATCTCTGT
AATTTAACTCCCGTGGACTTGGTCGAGTTTTCAGCAGGTTGGGAGCCACCTCTCTTCATTTCAG
CAGTGAGTCATCCCTTGACTTTTCAAATGACAGAATTTTTTCCAATTGTAAAATTAGCACTGTA
AAACAAAGAACCAAAGTGGCATCCTAAGAGTTGTTAAACCTGAAGTCTAGTTTATGAGGAATTG
TCCAAGTTGGAGTTTAAATAGTATCTGCTTTTGTCTCAAAGCATCTAAGTTATTCTGACAGAAA
ATGGTAAGTCAGCTTTGCAGGCAGATGCGCCTCTGGGCCTCCTACCTTGCTCCACAGCTTTCTG
GCCATCTTGTCTCCCAGGCCATGCCACTGCTCTGCCACATGTCAGCAAATTTCTTTCCACCAGT
CTTATAGCATCTTACATGATCAAATCATCACAGAATAACCCCGTGATAGATTATTGATAGCAAT
AGAGAGGGGCTTTGTCACTGATTTTTCTCTCAGATTCCTTTTCCATCTCTCATCCATAAAGGAA
GGACTGAAATCCAAAGGCATTCTCCTTTTGTACCTACAGTATCCAGAACCCACGTGGGCAGCCT
TCTGCTTATGACAATAATTGGCCCATTGCATGCAGAGAGAATGTCTTCATAGAGAGAATGTCAT
TAAATACTTGAATCTGCATGACAGTTTGACTTGAATGCAACAGCAGGAAAATTTTGCAAGTTAC
ATAATTGTATATACAGTAGGTTTTCTTAAGTCTCTTCGGTTCATCCTTTGTAATTTGTGTGTGT
ATCTGTAGTATTGCAGGCTTTTGGAGACTATTCTTACAGGCAGTATGTCAGTCATCAAAGAAAA
TGCTGTCACCTGCCATTGTTGTATTTGTGGGTATTTATAGTTGTATGTATGTAAATGCATCAGT
GTGTAGATTGCATATCAGTGTATGGTACATGTACATCAAAATTATTTTTGTCCTTAATCAGTGT
GATATGAAAAGCAAGTACAACCTCATAGGACTGATTATATAATGAAGTTGTTGAGAGTATATAT
AGTGGTATTGTTTTATTAAACTTAAACTCAAATAATATTTTGATTAAAATTTTTAATAAGACTT
TATGCTAGAAAATTCTTTGAGCTTTGAATCACCAGGGCAAAAATGACTTTCAACTAACCTTGTG
AATCTTTTGCAGTGTACTGTGTGCAATACCAAGGGCATAGCTCCCTGTAATTTGGGAAATACAG
AAAGAAAAGAAAAAAAAAAAAAAAGGCAGCCTGTGCAGTCTTAGTAACTTTAGTATTAAGAGCA
CTTAAAGTCAAACTGACAATTTTGGGCTTATTACAAAATGTGATGCTTTAAAGCACACGTTCTT
TATTGTTGTTGTAATTAGTCCATAAAAAATATAGCTTTCGGAAGAATTAAGTACCCACCATATC
ATTTATGTATTTGTGTATGTTTTACGGGAGATCAAACCACTCTCGTGGTGCCGCATCCGTACTC
GCTTGACTTGGAAGAAATATCACAAGCACTAAAGTATATCAGGGCATCCCAGGATTGGGTACTG
TATCCTAGGTTTGCAGTTGCAGAAATTAGCATCTAGTGTCACAGGTAAAAGAATTTCAGGACCA
GGTTTAAACTTTATTTTAAATATTTTTATACTTAGGTCTCTTTTTCCTGCCTCTCCCCAAAGAA
GAGCCACTGGCCTTAGTTGTTTGAGCTTACTGCTTATATTATAGAGTGTAAATAGGTAACTAGA
GACTAAAATTTTATTAACCAGCATGTTTGGTATATTTAAAGCAGTGACTGAGTGTGTTTGAGTG
AGTGGCTGAGTGCAGTGTCTTTTGTTTAAACACACTGCCTCGTGTCTTTGTAGCTGATTCAGAG
AGTTTGAATTGTGGGGTGGGAGACTAACTTCAGCTCCAGGCTGCAGTAATGTGTTGGTAGTTAC
ACTTGAGGCATTTTTTTGTTGTTGTTAATTAACTCTATAGTCTCAAACTATTTTTGCAAATATA
TCATTTTTCCTAATTGGTTCTTGACGTGCAGTGGACTGGCTCTGTGAATGATTGGCAGGGTCTT
AGTTTTGCGAGAGTATTTCCTTCTAAGAATTATTGTGATCTGCAGAAACAGCCATTTGATTCAA
AAATCATGTAGAAAAGGAGTAGGAGAAGCAAAACGTTTCATTTTTGGGCCTTAACCATTTGAAA
TGTTTGGACTTTAAACATAAAGCCATGGAGTTTATAAAGCCAAGTAACCATTTGATATGGATAA
TAATATCTACTCTAGAGAGAGTATATATATGCACATTGATTTTTAATGCTGTTAAGATACTTTT
GTAAAACTGTAGGAACAAGAGTAATTAGACCAAATTGAAGCTTAGGGGACAGTAAAGTGGTTGC
TTTCCATTTAGGGTAACCATGCATGTGGTTAGTCCTCTCCTCCTGAGATTCAGAACCAGTTGAC
TGTCCCCTTAGGTGTATAAGGAGAAAAGTTGACATGTCTGGGACCTCTGACATGTGTACACATG
CTTGCACACATGCACACACAGTGAATGTTTTAAGTTATACAAACATAAGACCTTAAGATGCAAA
GAGCCAGAATATTCTAAAGAGGTGATGAACAGAGGGGGTGGAAACTGCATCACAGATGTTTTCC
AAGGGCCAGGGTGGAATCTGAGCTCTAGTGTCTGACTTTGAGATGCATTATATTTTTAACACAT
AAATGAGGGGATCCATATCACATTCTTTCTTGTGGACCACCAAATTGAAGGCTTTCTTGTAATT
CACAAGCAGCAGCTCTCCAGCATCTCTCCGTAGCCTGGGTGAAGTCCCAGAAGCTGGTGTGCAT
CATTTTCCAAGGTGGCAGAGCTGCTTGCTCTGCAGATCATTCCTTTGAGAGAGGAGTACAAGTG
AAGAAACAAGGAGGCACTTCCTGTAGGAGCACTGATGTGCCTTGTCCACACTCCCCTCTGAGCT
TTACTGGTAAGAGAGCTCCGACTGAACATGCTGAGCAGTTGAGCACTTTTCCATCAGCAACAAC
AGCGAGGATGGAAATGGAAAGGAACCGAACTAAAATGCATTTCCCTTTGCAGGGCAGAGAGCTA
AGCTCTTAGGAATAGTGTTATAGAAATAAGCACCCTAACTTCAATTCCTGAAAATGTTGGTTAA
TGGAGAGAATTTTGGAGTTTCACTTAATATTTTCCCATCGGTCGCCATAAATAAGTCTTCAGGC
GCTCCTAGAAGAGTCCCAGCCCAAGGCTCGATTAAGGACCACACTGCAGGTCTGAGGCTCACTG
CTCTGAGTCCTGAACACCAGAGCCCTGCAGAGAGTGGTGATAACACATCATCTCTGCAAAGAGG
AACCTCTCCCCCGGCCGCCACTTCACTCAGGCTTCTACTGAGCAGCAAGGACAGCCTGGGTTTC
AAATGCCACTTCCCCTGCTTTAGGGATCCAGGTGTCCTGATAGCGTGACCCTGCTGAGGCAAGG
TATCAACTCCGAGAGTGACTGAGTCACTGAGCGTGGCACATGAACAAACGTCATGACAAAGATT
CTCTGAGTGAAGTTAACACCACGTATTTTACCTTTGCAAAAAACAAACTGGCACCCTGAGTTCT
AACTACGGACGGACGATATCTTTGCCTCCACACCCAGATTCCTGGAAATGGCTAACGTTTCCTT
TCTAGGGGAAGGGTCGAGGAATACTCAAGTGCTAGCTTAGCAGCTTTGTTCAGTCCAGATCAGA
GCTGTTAGGTAAAGGCCTAACCACCTCCCTGCAGTCTCTTATATCTCAAGCTTTAGGAACCCAT
TTCTAAATGTACACTAGCGGAGAATTTATATTGTCAGCCTTGATTACCATAGGACAGGCAGAAA
GGCGATAATTTGTATCTTTTAATATAAAAGAAGCTTTTAACTTTTCCAGCCTATTATAATAACT
GAGTTATATTCACTGTGGCTCAAACTAATTGGCATTGTGGAACATTTCTTTACCTTCAAAGTTT
TCTCCACCAATCATTTCAGTTCTATTGCAGTCCTGGTGCCATATGTCCCCTGCAAATTGTGAAA
GTAATTAGTGACAAAATAGCAGCCTGCTCCTTTTCAATGGCGAAACTGTCGGCATTAGCAGTTT
TGGGTAAGCTGGCGGTACTATAACACGTACTGGAAACCTGTTCCTCATCACCACCTACCAGATT
CTGGAAATGCCGTCTTCTAGAAAACGATGGCGTTTGTGGTGGTCTTCTTTTGAAAGGAACAGTA
ATTTGTGTGGATATTGTTAAAGTGTTTAAAGAATATTTTGACAATTAAGTTTACATTTTACAAT
TGCTTTATTTTTTATTAAAATAGTTGTATATAAATATTACCCTATTTCACTGTTGTTCAAGTAA
ATCTAAACCTTGTAGACAAGTGAGTCATCTGATATGTATAGAAGCTGTGATATATAGAGTACAT
TTATTGTGTAAATGTTTATGAATATAATTGTTCCTGTGTTTTTATAAGTTGGGGATATTTTGTT
GTTTTACGGCAACAAAATTTATTGCATTTAAATGGTTTTTATGTAATAGAAATCACGCAAAATA
GTGAAGGATTTAAAATATGTATATGATACATGTAAATGTACAAACTTTAGAAAGAAATAAATCC
AACAAATTTCAATCA

hide sequence

RefSeq Acc Id:

NR_182062

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,981,766 - 19,013,703 (-)	NCBI
T2T-CHM13v2.0	8	19,246,589 - 19,278,517 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001349748	(Get FASTA)	NCBI Sequence Viewer
	NP_001399794	(Get FASTA)	NCBI Sequence Viewer
	NP_001399795	(Get FASTA)	NCBI Sequence Viewer
	NP_001399796	(Get FASTA)	NCBI Sequence Viewer
	NP_001399797	(Get FASTA)	NCBI Sequence Viewer
	NP_001399798	(Get FASTA)	NCBI Sequence Viewer
	NP_001399799	(Get FASTA)	NCBI Sequence Viewer
	NP_001399800	(Get FASTA)	NCBI Sequence Viewer
	NP_001399801	(Get FASTA)	NCBI Sequence Viewer
	NP_001399802	(Get FASTA)	NCBI Sequence Viewer
	NP_001399803	(Get FASTA)	NCBI Sequence Viewer
	NP_001399804	(Get FASTA)	NCBI Sequence Viewer
	NP_001399805	(Get FASTA)	NCBI Sequence Viewer
	NP_001399806	(Get FASTA)	NCBI Sequence Viewer
	NP_001399808	(Get FASTA)	NCBI Sequence Viewer
	NP_001399809	(Get FASTA)	NCBI Sequence Viewer
	NP_001399810	(Get FASTA)	NCBI Sequence Viewer
	NP_001399811	(Get FASTA)	NCBI Sequence Viewer
	NP_001399812	(Get FASTA)	NCBI Sequence Viewer
	NP_001399813	(Get FASTA)	NCBI Sequence Viewer
	NP_001399814	(Get FASTA)	NCBI Sequence Viewer
	NP_001399815	(Get FASTA)	NCBI Sequence Viewer
	NP_001399816	(Get FASTA)	NCBI Sequence Viewer
	NP_001399817	(Get FASTA)	NCBI Sequence Viewer
	NP_001399818	(Get FASTA)	NCBI Sequence Viewer
	NP_001399819	(Get FASTA)	NCBI Sequence Viewer
	NP_001399820	(Get FASTA)	NCBI Sequence Viewer
	NP_001399821	(Get FASTA)	NCBI Sequence Viewer
	NP_001399822	(Get FASTA)	NCBI Sequence Viewer
	NP_001399823	(Get FASTA)	NCBI Sequence Viewer
	NP_001399824	(Get FASTA)	NCBI Sequence Viewer
	NP_001399825	(Get FASTA)	NCBI Sequence Viewer
	NP_056125	(Get FASTA)	NCBI Sequence Viewer
	NP_996792	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF61269	(Get FASTA)	NCBI Sequence Viewer
	AAH11238	(Get FASTA)	NCBI Sequence Viewer
	AAH75044	(Get FASTA)	NCBI Sequence Viewer
	AAH75045	(Get FASTA)	NCBI Sequence Viewer
	AAM74203	(Get FASTA)	NCBI Sequence Viewer
	ADU87649	(Get FASTA)	NCBI Sequence Viewer
	BAA76786	(Get FASTA)	NCBI Sequence Viewer
	BAG36561	(Get FASTA)	NCBI Sequence Viewer
	BAG52336	(Get FASTA)	NCBI Sequence Viewer
	BAG59170	(Get FASTA)	NCBI Sequence Viewer
	CAI46004	(Get FASTA)	NCBI Sequence Viewer
	CAJ42746	(Get FASTA)	NCBI Sequence Viewer
	EAW63779	(Get FASTA)	NCBI Sequence Viewer
	EAW63780	(Get FASTA)	NCBI Sequence Viewer
	EAW63781	(Get FASTA)	NCBI Sequence Viewer
	EAW63782	(Get FASTA)	NCBI Sequence Viewer
	EAW63783	(Get FASTA)	NCBI Sequence Viewer
	EAW63784	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000286485
	ENSP00000286485.8
	ENSP00000324127
	ENSP00000324127.8
	ENSP00000393228
	ENSP00000393228.2
	ENSP00000427897.1
	ENSP00000428405.1
	ENSP00000428889.1
	ENSP00000429069.1
	ENSP00000430043.1
	ENSP00000430640
	ENSP00000430640.1
	ENSP00000430744
	ENSP00000430744.1
GenBank Protein	Q9NYI0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_056125 ⟸ NM_015310
- Peptide Label:	isoform 1
- UniProtKB:	Q9Y2F1 (UniProtKB/Swiss-Prot), Q6B003 (UniProtKB/Swiss-Prot), E9KL50 (UniProtKB/Swiss-Prot), A6NFQ4 (UniProtKB/Swiss-Prot), Q9NYI0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MEGRSAAAETFVWVNNASAHSQSVAKAKYEFLFGRSEGKAPDTSDHGGSTLLPPNVTNEFPEYG TMEEGGEGLRASLEFDGEALPCHPQEQQGVQPLTGCHSGLDSVTEGPKDVREAPSQSHLKEQSL QPIDSLISALKATEARIISGTLQATKVLDQDAVSSFSVQQVEKELDTASRKTQRVNKTLPAGQK NLPEIPLSAEVTTEESFYLSIQKDLTALLTGDTQAEISQIMNNGRKGAVCVQEPSCPLASLGSS AVTCHSAGSVGFLKEQRSALGREHPGGCDRSSSMGRPGRVKHVEFQGVEILWTGGDKRETQHPI DFETSLQRTASPDSKESSKVPRHLISSAGLCNSSSLTENVWDESWKAPSERPGTSSGTFSPVRL DESGEDEVFLQENKQHLEKTPKPERDRERISEQEEHVKGEDEDILGPGYTEDSTDVYSSQFETI LDNTSLYYSAESLETLYSEPDSYFSFEMPLTPMIQQRIKEGGQFLERTSGGGHQDILSVSADGG IVMGYSSGVTNGLNDASDSIYTKGTPEIAFWGSNAGVKTTRLEAHSEMGSTEILEKETPENLSN GTSSNVEAAKRLAKRLYQLDRFKRSDVAKHLGKNNEFSKLVAEEYLKFFDFTGMTLDQSLRYFF KAFSLVGETQERERVLIHFSNRYFYCNPDTIASQDGVHCLTCAIMLLNTDLHGHNIGKKMTCQE FIANLQGVNEGVDFSKDLLKALYNSIKNEKLEWAVDDEEKKKSPSESTEEKANGTHPKTISRIG STTNPFLDIPHDPNAAVYKSGFLARKIHADMDGKKTPRGKRGWKTFYAVLKGTVLYLQKDEYKP EKALSEEDLKNAVSVHHALASKATDYEKKPNVFKLKTADWRVLLFQTQSPEEMQGWINKINCVA AVFSAPPFPAAIGSQKKFSRPLLPATTTKLSQEEQLKSHESKLKQITTELAEHRSYPPDKKVKA KDVDEYKLKDHYLEFEKTRYEMYVSILKEGGKELLSNDESEAAGLKKSHSSPSLNPDTSPITAK VKRNVSERKDHRPETPSIKQKVT hide sequence

RefSeq Acc Id:	NP_996792 ⟸ NM_206909
- Peptide Label:	isoform 2
- UniProtKB:	Q9NYI0 (UniProtKB/Swiss-Prot), B3KRC4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGSSWCLYGCCNAGVKTTRLEAHSEMGSTEILEKETPENLSNGTSSNVEAAKRLAKRLYQLDRF KRSDVAKHLGKNNEFSKLVAEEYLKFFDFTGMTLDQSLRYFFKAFSLVGETQERERVLIHFSNR YFYCNPDTIASQDGVHCLTCAIMLLNTDLHGHNIGKKMTCQEFIANLQGVNEGVDFSKDLLKAL YNSIKNEKLEWAVDDEEKKKSPSESTEEKANGTHPKTISRIGSTTNPFLDIPHDPNAAVYKSGF LARKIHADMDGKKTPRGKRGWKTFYAVLKGTVLYLQKDEYKPEKALSEEDLKNAVSVHHALASK ATDYEKKPNVFKLKTADWRVLLFQTQSPEEMQGWINKINCVAAVFSAPPFPAAIGSQKKFSRPL LPATTTKLSQEEQLKSHESKLKQITTELAEHRSYPPDKKVKAKDVDEYKLKDHYLEFEKTRYEM YVSILKEGGKELLSNDESEAAGLKKSHSSPSLNPDTSPITAKVKRNVSERKDHRPETPSIKQKV T hide sequence

RefSeq Acc Id:	NP_001349748 ⟸ NM_001362819
- Peptide Label:	isoform 3
- UniProtKB:	Q9Y2F1 (UniProtKB/Swiss-Prot), Q9NYI0 (UniProtKB/Swiss-Prot), Q6B003 (UniProtKB/Swiss-Prot), E9KL50 (UniProtKB/Swiss-Prot), A6NFQ4 (UniProtKB/Swiss-Prot)

Ensembl Acc Id:

ENSP00000430043 ⟸ ENST00000517971

Ensembl Acc Id:

ENSP00000428889 ⟸ ENST00000518315

Ensembl Acc Id:

ENSP00000429069 ⟸ ENST00000519851

Ensembl Acc Id:

ENSP00000393228 ⟸ ENST00000428502

Ensembl Acc Id:

ENSP00000401704 ⟸ ENST00000440756

Ensembl Acc Id:

ENSP00000430744 ⟸ ENST00000520858

Ensembl Acc Id:

ENSP00000427897 ⟸ ENST00000521027

Ensembl Acc Id:

ENSP00000428405 ⟸ ENST00000521475

Ensembl Acc Id:

ENSP00000480930 ⟸ ENST00000614430

Ensembl Acc Id:

ENSP00000286485 ⟸ ENST00000286485

Ensembl Acc Id:

ENSP00000484565 ⟸ ENST00000615573

Ensembl Acc Id:

ENSP00000324127 ⟸ ENST00000327040

Ensembl Acc Id:

ENSP00000430640 ⟸ ENST00000523619

RefSeq Acc Id:	NP_001399794 ⟸ NM_001412865
- Peptide Label:	isoform 4
- UniProtKB:	Q9Y2F1 (UniProtKB/Swiss-Prot), Q9NYI0 (UniProtKB/Swiss-Prot), Q6B003 (UniProtKB/Swiss-Prot), E9KL50 (UniProtKB/Swiss-Prot), A6NFQ4 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001399795 ⟸ NM_001412866
- Peptide Label:	isoform 5
- UniProtKB:	Q9Y2F1 (UniProtKB/Swiss-Prot), Q9NYI0 (UniProtKB/Swiss-Prot), Q6B003 (UniProtKB/Swiss-Prot), E9KL50 (UniProtKB/Swiss-Prot), A6NFQ4 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001399801 ⟸ NM_001412872
- Peptide Label:	isoform 11
- UniProtKB:	Q9Y2F1 (UniProtKB/Swiss-Prot), Q9NYI0 (UniProtKB/Swiss-Prot), Q6B003 (UniProtKB/Swiss-Prot), E9KL50 (UniProtKB/Swiss-Prot), A6NFQ4 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001399800 ⟸ NM_001412871
- Peptide Label:	isoform 10
- UniProtKB:	Q9Y2F1 (UniProtKB/Swiss-Prot), Q9NYI0 (UniProtKB/Swiss-Prot), Q6B003 (UniProtKB/Swiss-Prot), E9KL50 (UniProtKB/Swiss-Prot), A6NFQ4 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001399802 ⟸ NM_001412873
- Peptide Label:	isoform 12
- UniProtKB:	Q9Y2F1 (UniProtKB/Swiss-Prot), Q9NYI0 (UniProtKB/Swiss-Prot), Q6B003 (UniProtKB/Swiss-Prot), E9KL50 (UniProtKB/Swiss-Prot), A6NFQ4 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001399799 ⟸ NM_001412870
- Peptide Label:	isoform 9
- UniProtKB:	Q9Y2F1 (UniProtKB/Swiss-Prot), Q9NYI0 (UniProtKB/Swiss-Prot), Q6B003 (UniProtKB/Swiss-Prot), E9KL50 (UniProtKB/Swiss-Prot), A6NFQ4 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001399803 ⟸ NM_001412874
- Peptide Label:	isoform 13
- UniProtKB:	Q9Y2F1 (UniProtKB/Swiss-Prot), Q9NYI0 (UniProtKB/Swiss-Prot), Q6B003 (UniProtKB/Swiss-Prot), E9KL50 (UniProtKB/Swiss-Prot), A6NFQ4 (UniProtKB/Swiss-Prot), E5RJ29 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001399804 ⟸ NM_001412875
- Peptide Label:	isoform 14
- UniProtKB:	Q9Y2F1 (UniProtKB/Swiss-Prot), Q9NYI0 (UniProtKB/Swiss-Prot), Q6B003 (UniProtKB/Swiss-Prot), E9KL50 (UniProtKB/Swiss-Prot), A6NFQ4 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001399811 ⟸ NM_001412882
- Peptide Label:	isoform 13
- UniProtKB:	Q9Y2F1 (UniProtKB/Swiss-Prot), Q9NYI0 (UniProtKB/Swiss-Prot), Q6B003 (UniProtKB/Swiss-Prot), E9KL50 (UniProtKB/Swiss-Prot), A6NFQ4 (UniProtKB/Swiss-Prot), E5RJ29 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001399805 ⟸ NM_001412876
- Peptide Label:	isoform 15
- UniProtKB:	Q9Y2F1 (UniProtKB/Swiss-Prot), Q9NYI0 (UniProtKB/Swiss-Prot), Q6B003 (UniProtKB/Swiss-Prot), E9KL50 (UniProtKB/Swiss-Prot), A6NFQ4 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001399812 ⟸ NM_001412883
- Peptide Label:	isoform 13
- UniProtKB:	Q9Y2F1 (UniProtKB/Swiss-Prot), Q9NYI0 (UniProtKB/Swiss-Prot), Q6B003 (UniProtKB/Swiss-Prot), E9KL50 (UniProtKB/Swiss-Prot), A6NFQ4 (UniProtKB/Swiss-Prot), E5RJ29 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001399814 ⟸ NM_001412885
- Peptide Label:	isoform 21

RefSeq Acc Id:	NP_001399815 ⟸ NM_001412886
- Peptide Label:	isoform 21

RefSeq Acc Id:	NP_001399817 ⟸ NM_001412888
- Peptide Label:	isoform 21

RefSeq Acc Id:	NP_001399818 ⟸ NM_001412889
- Peptide Label:	isoform 21

RefSeq Acc Id:	NP_001399819 ⟸ NM_001412890
- Peptide Label:	isoform 23

RefSeq Acc Id:	NP_001399820 ⟸ NM_001412891
- Peptide Label:	isoform 30

RefSeq Acc Id:	NP_001399825 ⟸ NM_001412896
- Peptide Label:	isoform 29

RefSeq Acc Id:	NP_001399824 ⟸ NM_001412895
- Peptide Label:	isoform 28
- UniProtKB:	B4DKF8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001399809 ⟸ NM_001412880
- Peptide Label:	isoform 18
- UniProtKB:	Q9Y2F1 (UniProtKB/Swiss-Prot), Q9NYI0 (UniProtKB/Swiss-Prot), Q6B003 (UniProtKB/Swiss-Prot), E9KL50 (UniProtKB/Swiss-Prot), A6NFQ4 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001399797 ⟸ NM_001412868
- Peptide Label:	isoform 7

RefSeq Acc Id:	NP_001399806 ⟸ NM_001412877
- Peptide Label:	isoform 16

RefSeq Acc Id:	NP_001399816 ⟸ NM_001412887
- Peptide Label:	isoform 22
- UniProtKB:	E5RJE4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001399822 ⟸ NM_001412893
- Peptide Label:	isoform 26

RefSeq Acc Id:	NP_001399798 ⟸ NM_001412869
- Peptide Label:	isoform 8

RefSeq Acc Id:	NP_001399810 ⟸ NM_001412881
- Peptide Label:	isoform 19

RefSeq Acc Id:	NP_001399813 ⟸ NM_001412884
- Peptide Label:	isoform 20
- UniProtKB:	E5RJE4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001399823 ⟸ NM_001412894
- Peptide Label:	isoform 27
- UniProtKB:	E5RJE4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001399796 ⟸ NM_001412867
- Peptide Label:	isoform 6

RefSeq Acc Id:	NP_001399808 ⟸ NM_001412879
- Peptide Label:	isoform 17

RefSeq Acc Id:	NP_001399821 ⟸ NM_001412892
- Peptide Label:	isoform 25
- UniProtKB:	E5RFG7 (UniProtKB/TrEMBL)

Protein Domains

PH SEC7

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9NYI0-F1-model_v2	AlphaFold	Q9NYI0	1-1048	view protein structure

Promoters

RGD ID:

7212727

Promoter ID:

EPDNEW_H12109

Type:

initiation region

Name:

PSD3_2

Description:

pleckstrin and Sec7 domain containing 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H12110 EPDNEW_H12112 EPDNEW_H12113 EPDNEW_H12111

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,684,066 - 18,684,126	EPDNEW

RGD ID:

7212729

Promoter ID:

EPDNEW_H12110

Type:

initiation region

Name:

PSD3_4

Description:

pleckstrin and Sec7 domain containing 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H12109 EPDNEW_H12112 EPDNEW_H12113 EPDNEW_H12111

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,808,863 - 18,808,923	EPDNEW

RGD ID:

7212735

Promoter ID:

EPDNEW_H12111

Type:

initiation region

Name:

PSD3_5

Description:

pleckstrin and Sec7 domain containing 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H12109 EPDNEW_H12110 EPDNEW_H12112 EPDNEW_H12113

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	18,887,034 - 18,887,094	EPDNEW

RGD ID:

6806962

Promoter ID:

HG_KWN:60833

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, NB4

Transcripts:

NM_015310

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	8	18,915,159 - 18,915,659 (-)	MPROMDB

RGD ID:

7212731

Promoter ID:

EPDNEW_H12112

Type:

initiation region

Name:

PSD3_1

Description:

pleckstrin and Sec7 domain containing 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H12109 EPDNEW_H12110 EPDNEW_H12113 EPDNEW_H12111

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	19,013,700 - 19,013,760	EPDNEW

RGD ID:

7212733

Promoter ID:

EPDNEW_H12113

Type:

initiation region

Name:

PSD3_3

Description:

pleckstrin and Sec7 domain containing 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H12109 EPDNEW_H12110 EPDNEW_H12112 EPDNEW_H12111

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	19,084,741 - 19,084,801	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:19093	AgrOrtholog
COSMIC	PSD3	COSMIC
Ensembl Genes	ENSG00000156011	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000286485	ENTREZGENE
	ENST00000286485.12	UniProtKB/Swiss-Prot
	ENST00000327040	ENTREZGENE
	ENST00000327040.13	UniProtKB/Swiss-Prot
	ENST00000428502	ENTREZGENE
	ENST00000428502.6	UniProtKB/TrEMBL
	ENST00000517971.5	UniProtKB/TrEMBL
	ENST00000518315.5	UniProtKB/TrEMBL
	ENST00000518963	ENTREZGENE
	ENST00000519851.5	UniProtKB/TrEMBL
	ENST00000520858	ENTREZGENE
	ENST00000520858.5	UniProtKB/TrEMBL
	ENST00000521027.5	UniProtKB/TrEMBL
	ENST00000521475.1	UniProtKB/TrEMBL
	ENST00000523619	ENTREZGENE
	ENST00000523619.5	UniProtKB/TrEMBL
Gene3D-CATH	1.10.1000.11	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	2.30.29.30	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000156011	GTEx
HGNC ID	HGNC:19093	ENTREZGENE
Human Proteome Map	PSD3	Human Proteome Map
InterPro	PH-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PH_9	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PH_dom-spectrin-type	UniProtKB/TrEMBL
	PH_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sec7_C_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sec7_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sec7_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:23362	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	23362	ENTREZGENE
OMIM	614440	OMIM
PANTHER	GUANYL-NUCLEOTIDE EXCHANGE FACTOR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PH AND SEC7 DOMAIN-CONTAINING PROTEIN 3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	PH_9	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sec7	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA128394629	PharmGKB
PRINTS	SPECTRINPH	UniProtKB/TrEMBL
PROSITE	PH_DOMAIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SEC7	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	Sec7	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SM00233	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	PH domain-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF48425	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A6NFQ4	ENTREZGENE
	B3KRC4	ENTREZGENE, UniProtKB/TrEMBL
	B4DKF8	ENTREZGENE, UniProtKB/TrEMBL
	E5RFG7	ENTREZGENE, UniProtKB/TrEMBL
	E5RH02_HUMAN	UniProtKB/TrEMBL
	E5RIH3_HUMAN	UniProtKB/TrEMBL
	E5RJ29	ENTREZGENE, UniProtKB/TrEMBL
	E5RJE4	ENTREZGENE, UniProtKB/TrEMBL
	E9KL50	ENTREZGENE
	H0YAQ7_HUMAN	UniProtKB/TrEMBL
	H0YC20_HUMAN	UniProtKB/TrEMBL
	PSD3_HUMAN	UniProtKB/Swiss-Prot
	Q6B003	ENTREZGENE
	Q7L3Y3_HUMAN	UniProtKB/TrEMBL
	Q9NYI0	ENTREZGENE
	Q9Y2F1	ENTREZGENE
UniProt Secondary	A6NFQ4	UniProtKB/Swiss-Prot
	E9KL50	UniProtKB/Swiss-Prot
	Q6B003	UniProtKB/Swiss-Prot
	Q9Y2F1	UniProtKB/Swiss-Prot

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

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

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

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar