POLR2H (RNA polymerase II, I and III subunit H)

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Gene: POLR2H (RNA polymerase II, I and III subunit H) Homo sapiens

Analyze

Symbol:

POLR2H

Name:

RNA polymerase II, I and III subunit H

RGD ID:

1314889

HGNC Page

HGNC:9195

Description:

Enables single-stranded DNA binding activity. Involved in transcription by RNA polymerase II. Located in nucleus. Part of nuclear DNA-directed RNA polymerase complex and protein-DNA complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DNA-directed RNA polymerase II subunit H; DNA-directed RNA polymerases I, II, and III 17.1 kDa polypeptide; DNA-directed RNA polymerases I, II, and III subunit RPABC3; hRPB8; hsRPB8; polymerase (RNA) II (DNA directed) polypeptide H; polymerase (RNA) II subunit H; RNA polymerase II subunit H; RNA polymerases I, II, and III subunit ABC3; RPABC3; RPB17; RPB8; RPB8 homolog

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	3	184,361,710 - 184,368,591 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	184,361,710 - 184,368,596 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	184,079,498 - 184,086,379 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	185,563,888 - 185,569,057 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	185,563,895 - 185,569,065	NCBI
Celera	3	182,522,093 - 182,527,333 (+)	NCBI		Celera
Cytogenetic Map	3	q27.1	NCBI
HuRef	3	181,485,934 - 181,492,918 (+)	NCBI		HuRef
CHM1_1	3	184,043,961 - 184,050,843 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	3	187,170,978 - 187,177,848 (+)	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

3-methylcrotonyl-CoA carboxylase 1 deficiency (IAGP)

congenital disorder of glycosylation Id (IAGP)

Currarino syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

1,2-dimethylhydrazine (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

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

6-propyl-2-thiouracil (ISO)

acrylamide (EXP)

actinomycin D (EXP)

all-trans-retinoic acid (EXP)

ammonium chloride (ISO)

antimycin A (EXP)

apigenin (ISO)

Aroclor 1254 (ISO)

arsane (EXP)

arsenic atom (EXP)

atrazine (ISO)

benzo[a]pyrene (ISO)

bisphenol A (ISO)

bisphenol F (ISO)

butanal (EXP)

carbon nanotube (ISO)

chlorpyrifos (ISO)

chromium(6+) (ISO)

cisplatin (EXP)

copper(II) sulfate (EXP)

coumestrol (EXP)

deguelin (EXP)

Dibutyl phosphate (EXP)

dioxygen (ISO)

endosulfan (ISO)

epoxiconazole (ISO)

folic acid (ISO)

gentamycin (ISO)

ivermectin (EXP)

methylseleninic acid (EXP)

N-nitrosodiethylamine (ISO)

Nutlin-3 (EXP)

paracetamol (ISO)

perfluorohexanesulfonic acid (ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (ISO)

permethrin (ISO)

phenobarbital (EXP)

picoxystrobin (EXP)

pirinixic acid (ISO)

pyrimidifen (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

tebufenpyrad (EXP)

tetrachloromethane (ISO)

thiram (EXP)

titanium dioxide (ISO)

versicolorin A (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

DNA-templated transcription (IEA)

transcription by RNA polymerase I (IEA)

transcription by RNA polymerase II (IDA)

transcription by RNA polymerase III (IEA)

Cellular Component

cytosol (TAS)

DNA-directed RNA polymerase complex (IEA)

nucleolus (IEA)

nucleoplasm (IEA,TAS)

nucleus (IDA,IEA)

protein-DNA complex (IDA)

RNA polymerase I complex (IBA,IDA)

RNA polymerase II, core complex (IBA,IDA)

RNA polymerase III complex (IBA,IDA)

Molecular Function

DNA binding (IEA)

DNA-directed 5'-3' RNA polymerase activity (IEA)

RNA polymerase I activity (IBA)

RNA polymerase II activity (IBA)

RNA polymerase III activity (IBA)

single-stranded DNA binding (IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

Huntington's disease pathway (IEA)

purine metabolic pathway (IEA)

pyrimidine metabolic pathway (IEA)

RNA polymerase I transcription pathway (TAS)

RNA polymerase II transcription pathway (TAS)

RNA polymerase III transcription pathway (TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription.	Dumay-Odelot H, etal., Cell Cycle. 2010 Sep 15;9(18):3687-99. Epub 2010 Sep 1.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits.	Hu P, etal., Mol Cell Biol. 2002 Nov;22(22):8044-55.
4.	TFIIB-related factors in RNA polymerase I transcription.	Knutson BA and Hahn S, Biochim Biophys Acta. 2013 Mar-Apr;1829(3-4):265-73. doi: 10.1016/j.bbagrm.2012.08.003. Epub 2012 Aug 30.
5.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
6.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
7.	RNA polymerase I activity is regulated at multiple steps in the transcription cycle: recent insights into factors that influence transcription elongation.	Schneider DA Gene. 2012 Feb 10;493(2):176-84. doi: 10.1016/j.gene.2011.08.006. Epub 2011 Aug 26.
8.	Conservation between the RNA polymerase I, II, and III transcription initiation machineries.	Vannini A and Cramer P, Mol Cell. 2012 Feb 24;45(4):439-46. doi: 10.1016/j.molcel.2012.01.023.

Additional References at PubMed

PMID:1403646	PMID:1559613	PMID:1939271	PMID:2190099	PMID:2449431	PMID:3754875	PMID:7638159	PMID:7651387	PMID:7853496	PMID:8524256	PMID:8637904	PMID:8676484
PMID:8800208	PMID:8849451	PMID:8876177	PMID:8910388	PMID:8934526	PMID:8946909	PMID:9054383	PMID:9121429	PMID:9184228	PMID:9201987	PMID:9311822	PMID:9315662
PMID:9334327	PMID:9405375	PMID:9409616	PMID:9491887	PMID:9512541	PMID:9570510	PMID:9582279	PMID:9651670	PMID:9696809	PMID:9765201	PMID:9790902	PMID:9852112
PMID:9874563	PMID:10066804	PMID:10069959	PMID:10329125	PMID:10359081	PMID:10364292	PMID:10373521	PMID:10393184	PMID:10438593	PMID:10536359	PMID:10545121	PMID:10567706
PMID:10617616	PMID:10698937	PMID:10704353	PMID:10725406	PMID:10757782	PMID:10777215	PMID:10784442	PMID:10866664	PMID:10931842	PMID:10958691	PMID:11080476	PMID:11112772
PMID:11547919	PMID:11790298	PMID:11809800	PMID:12049628	PMID:12052871	PMID:12089333	PMID:12114499	PMID:12126615	PMID:12221105	PMID:12226669	PMID:12379213	PMID:12393749
PMID:12477932	PMID:12634356	PMID:12642036	PMID:12646563	PMID:12676794	PMID:12775419	PMID:12887902	PMID:14569024	PMID:14743216	PMID:15146197	PMID:15175163	PMID:15489334
PMID:15635413	PMID:16239144	PMID:16632472	PMID:16838299	PMID:16957778	PMID:17168834	PMID:17283126	PMID:17353931	PMID:17643375	PMID:17661632	PMID:18029348	PMID:18218627
PMID:18562274	PMID:18976975	PMID:18991615	PMID:19214185	PMID:19237606	PMID:19240132	PMID:19526283	PMID:20133760	PMID:20227660	PMID:20237496	PMID:20471948	PMID:20864512
PMID:21360054	PMID:21406692	PMID:21729782	PMID:21873635	PMID:21972559	PMID:22211660	PMID:22229121	PMID:22422068	PMID:22567366	PMID:22863883	PMID:22939629	PMID:23028129
PMID:23087374	PMID:23274668	PMID:23349634	PMID:23443559	PMID:23824909	PMID:23827503	PMID:24217245	PMID:24359561	PMID:24457600	PMID:24981860	PMID:25436519	PMID:25544563
PMID:25737280	PMID:25959826	PMID:26299517	PMID:26344197	PMID:26496610	PMID:26972000	PMID:27025967	PMID:27609421	PMID:27684187	PMID:27705803	PMID:27780869	PMID:28077445
PMID:28514442	PMID:28515276	PMID:28561026	PMID:28700943	PMID:28846114	PMID:28883622	PMID:29128334	PMID:29229926	PMID:29298432	PMID:29467282	PMID:29509190	PMID:30349055
PMID:30463901	PMID:30554943	PMID:30572598	PMID:30804502	PMID:30828735	PMID:30884312	PMID:31048545	PMID:31091453	PMID:31180492	PMID:31527615	PMID:31685992	PMID:31722399
PMID:32129710	PMID:32355176	PMID:32416067	PMID:32460013	PMID:32640226	PMID:32707033	PMID:32780723	PMID:32807901	PMID:32814769	PMID:33022573	PMID:33335104	PMID:33567268
PMID:33658012	PMID:33674783	PMID:33961781	PMID:34011540	PMID:34108663	PMID:34316702	PMID:34373451	PMID:34671025	PMID:34675218	PMID:35013218	PMID:35032548	PMID:35182466
PMID:35256949	PMID:35271311	PMID:35545034	PMID:35563538	PMID:35831314	PMID:35850772	PMID:35944360	PMID:36114006	PMID:36215168	PMID:36271492	PMID:36538041	PMID:36574265
PMID:36604567	PMID:36736316	PMID:36929488	PMID:36964488	PMID:37167062	PMID:37314180	PMID:37314216	PMID:37317656	PMID:37682711	PMID:37931956	PMID:38113892	PMID:38697112

Genomics

Comparative Map Data

POLR2H
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	184,361,710 - 184,368,591 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	184,361,710 - 184,368,596 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	184,079,498 - 184,086,379 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	185,563,888 - 185,569,057 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	185,563,895 - 185,569,065	NCBI
Celera	3	182,522,093 - 182,527,333 (+)	NCBI		Celera
Cytogenetic Map	3	q27.1	NCBI
HuRef	3	181,485,934 - 181,492,918 (+)	NCBI		HuRef
CHM1_1	3	184,043,961 - 184,050,843 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	3	187,170,978 - 187,177,848 (+)	NCBI		T2T-CHM13v2.0

Polr2h
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	16	20,536,552 - 20,541,015 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	16	20,536,415 - 20,541,017 (+)	Ensembl		GRCm39 Ensembl
GRCm38	16	20,717,826 - 20,722,272 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	16	20,717,665 - 20,722,267 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	16	20,717,899 - 20,722,338 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	16	20,631,369 - 20,635,808 (+)	NCBI		MGSCv36	mm8
Celera	16	21,283,180 - 21,287,619 (+)	NCBI		Celera
Cytogenetic Map	16	B1	NCBI
cM Map	16	12.5	NCBI

Polr2h
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	11	93,696,423 - 93,701,902 (-)	NCBI		GRCr8
mRatBN7.2	11	80,192,017 - 80,197,468 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	104,855,233 - 104,855,685 (-)	Ensembl		mRatBN7.2 Ensembl
mRatBN7.2 Ensembl	11	80,192,032 - 80,197,515 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	11	88,914,729 - 88,919,176 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	11	81,568,145 - 81,572,593 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	11	80,629,207 - 80,633,655 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	11	83,877,760 - 83,882,208 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	11	83,878,006 - 83,882,117 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0 Ensembl	11	82,856,529 - 82,860,977 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	11	86,949,678 - 86,954,126 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	11	82,421,657 - 82,426,105 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	11	79,031,758 - 79,036,206 (-)	NCBI		Celera
Cytogenetic Map	11	q23	NCBI

Polr2h
(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_004955420	23,131,297 - 23,136,800 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955420	23,132,053 - 23,136,954 (-)	NCBI	ChiLan1.0	ChiLan1.0

POLR2H
(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	2	182,235,029 - 182,241,579 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	3	182,239,731 - 182,246,243 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	181,399,136 - 181,405,680 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	189,881,152 - 189,887,608 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	189,881,594 - 189,887,608 (+)	Ensembl	panpan1.1		panPan2

POLR2H
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	34	17,240,604 - 17,244,907 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	34	17,240,624 - 17,244,904 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	34	21,326,156 - 21,330,472 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	34	17,148,082 - 17,152,412 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	34	17,148,113 - 17,152,408 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	34	17,184,969 - 17,189,285 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	34	17,181,038 - 17,185,353 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	34	17,410,010 - 17,414,320 (+)	NCBI		UU_Cfam_GSD_1.0

Polr2h
(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_024405602	119,427,628 - 119,436,559 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936578	5,519,462 - 5,523,744 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936578	5,519,482 - 5,528,355 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

POLR2H
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	122,250,020 - 122,256,195 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	122,250,087 - 122,256,201 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	131,741,139 - 131,745,977 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

POLR2H
(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	15	5,051,705 - 5,056,497 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	15	5,051,712 - 5,056,413 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666063	13,829,647 - 13,834,279 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Polr2h
(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_004624730	72,221,964 - 72,228,616 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624730	72,221,964 - 72,228,133 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in POLR2H
6 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1	copy number loss	See cases [RCV000051607]	Chr3:182678453..188418928 [GRCh38] Chr3:182396241..188136716 [GRCh37] Chr3:183878935..189619410 [NCBI36] Chr3:3q26.33-28	pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	copy number gain	See cases [RCV000051725]	Chr3:147521892..198096565 [GRCh38] Chr3:147239679..197823436 [GRCh37] Chr3:148722369..199307833 [NCBI36] Chr3:3q24-29	pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	copy number gain	See cases [RCV000051726]	Chr3:157293378..198134727 [GRCh38] Chr3:157011167..197861598 [GRCh37] Chr3:158493861..199345995 [NCBI36] Chr3:3q25.31-29	pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3	copy number gain	See cases [RCV000051736]	Chr3:178411707..198110319 [GRCh38] Chr3:178129495..197837190 [GRCh37] Chr3:179612189..199321587 [NCBI36] Chr3:3q26.32-29	pathogenic
GRCh38/hg38 3q27.1(chr3:184200139-184656801)x3	copy number gain	See cases [RCV000051737]	Chr3:184200139..184656801 [GRCh38] Chr3:183917927..184374589 [GRCh37] Chr3:185400621..185857283 [NCBI36] Chr3:3q27.1	pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]\|See cases [RCV000051723]	Chr3:137126982..198110178 [GRCh38] Chr3:136845824..197837049 [GRCh37] Chr3:138328514..199321446 [NCBI36] Chr3:3q22.3-29	pathogenic
GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1	copy number loss	See cases [RCV000054002]	Chr3:184239109..184391437 [GRCh38] Chr3:183956897..184109225 [GRCh37] Chr3:185439591..185591919 [NCBI36] Chr3:3q27.1	uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	copy number gain	See cases [RCV000134948]	Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29	pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	copy number gain	See cases [RCV000137106]	Chr3:168167568..198110178 [GRCh38] Chr3:167885356..197837049 [GRCh37] Chr3:169368050..199321446 [NCBI36] Chr3:3q26.2-29	pathogenic
GRCh38/hg38 3q27.1(chr3:184242321-184389832)x3	copy number gain	See cases [RCV000136872]	Chr3:184242321..184389832 [GRCh38] Chr3:183960109..184107620 [GRCh37] Chr3:185442803..185590314 [NCBI36] Chr3:3q27.1	benign
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	copy number gain	See cases [RCV000138009]	Chr3:176439911..198118383 [GRCh38] Chr3:176157699..197845254 [GRCh37] Chr3:177640393..199329651 [NCBI36] Chr3:3q26.32-29	pathogenic\|likely benign
GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3	copy number gain	See cases [RCV000137910]	Chr3:183816693..184365094 [GRCh38] Chr3:183534481..184082882 [GRCh37] Chr3:185017175..185565576 [NCBI36] Chr3:3q27.1	uncertain significance
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	copy number gain	See cases [RCV000138662]	Chr3:176168525..198118383 [GRCh38] Chr3:175886313..197845254 [GRCh37] Chr3:177369007..199329651 [NCBI36] Chr3:3q26.32-29	pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	copy number gain	See cases [RCV000139435]	Chr3:152100512..198118383 [GRCh38] Chr3:151818301..197845254 [GRCh37] Chr3:153300991..199329651 [NCBI36] Chr3:3q25.1-29	pathogenic
GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	copy number loss	See cases [RCV000139917]	Chr3:184010704..186288926 [GRCh38] Chr3:183728492..186006715 [GRCh37] Chr3:185211186..187489409 [NCBI36] Chr3:3q27.1-27.2	likely pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	copy number gain	See cases [RCV000140849]	Chr3:156321878..198113452 [GRCh38] Chr3:156039667..197840323 [GRCh37] Chr3:157522361..199324720 [NCBI36] Chr3:3q25.31-29	pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	copy number loss	See cases [RCV000142019]	Chr3:181138664..192512023 [GRCh38] Chr3:180856452..192229812 [GRCh37] Chr3:182339146..193712506 [NCBI36] Chr3:3q26.33-28	pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	copy number gain	See cases [RCV000142310]	Chr3:156118441..198125115 [GRCh38] Chr3:155836230..197851986 [GRCh37] Chr3:157318924..199336383 [NCBI36] Chr3:3q25.31-29	pathogenic
GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	copy number loss	See cases [RCV000142154]	Chr3:182319764..186443121 [GRCh38] Chr3:182037552..186160910 [GRCh37] Chr3:183520246..187643604 [NCBI36] Chr3:3q26.33-27.3	likely pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	copy number gain	See cases [RCV000142107]	Chr3:167717962..188365272 [GRCh38] Chr3:167435750..188083060 [GRCh37] Chr3:168918444..189565754 [NCBI36] Chr3:3q26.1-28	likely pathogenic
GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1	copy number loss	See cases [RCV000143297]	Chr3:183521497..184472038 [GRCh38] Chr3:183239285..184189826 [GRCh37] Chr3:184721979..185672520 [NCBI36] Chr3:3q27.1	likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	copy number gain	See cases [RCV000143694]	Chr3:166137209..198125115 [GRCh38] Chr3:165854997..197851986 [GRCh37] Chr3:167337691..199336383 [NCBI36] Chr3:3q26.1-29	pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	copy number gain	See cases [RCV000240256]	Chr3:142995020..192997215 [GRCh37] Chr3:3q24-29	pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	copy number gain	See cases [RCV000447464]	Chr3:158980631..197766890 [GRCh37] Chr3:3q25.32-29	pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4	copy number gain	See cases [RCV000446732]	Chr3:181911498..197851986 [GRCh37] Chr3:3q26.33-29	pathogenic
NC_000003.12:g.177772523_185716872dup	duplication	Currarino triad [RCV000417195]	Chr3:177772523..185716872 [GRCh38] Chr3:3q26.32-27.2	likely pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)x1	copy number loss	See cases [RCV000448937]	Chr3:183178932..186838042 [GRCh37] Chr3:3q27.1-27.3	pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3	copy number gain	See cases [RCV000448608]	Chr3:152356847..197851986 [GRCh37] Chr3:3q25.2-29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	copy number gain	See cases [RCV000512358]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	copy number gain	See cases [RCV000511055]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	copy number gain	not provided [RCV000682336]	Chr3:182539234..197851986 [GRCh37] Chr3:3q26.33-29	pathogenic
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	copy number loss	not provided [RCV000682337]	Chr3:182650681..191275809 [GRCh37] Chr3:3q26.33-28	pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	copy number gain	not provided [RCV000682339]	Chr3:184003967..197851986 [GRCh37] Chr3:3q27.1-29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3	copy number gain	not provided [RCV000742138]	Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3	copy number gain	not provided [RCV000742133]	Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3	copy number gain	not provided [RCV000742968]	Chr3:173281266..197838262 [GRCh37] Chr3:3q26.31-29	pathogenic
NM_006232.5(POLR2H):c.262T>G (p.Phe88Val)	single nucleotide variant	not specified [RCV004317184]	Chr3:184366727 [GRCh38] Chr3:184084515 [GRCh37] Chr3:3q27.1	uncertain significance
GRCh37/hg19 3q27.1-27.3(chr3:183789584-186034649)x1	copy number loss	not provided [RCV001005495]	Chr3:183789584..186034649 [GRCh37] Chr3:3q27.1-27.3	likely pathogenic
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	copy number gain	not provided [RCV001005487]	Chr3:169617690..190593854 [GRCh37] Chr3:3q26.2-28	pathogenic
GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1	copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267847]	Chr3:181171210..184706091 [GRCh37] Chr3:3q26.33-27.2	pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	copy number loss	not provided [RCV001259730]	Chr3:182877291..186830759 [GRCh37] Chr3:3q27.1-27.3	pathogenic
GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	copy number gain	not provided [RCV001795540]	Chr3:175119199..187592480 [GRCh37] Chr3:3q26.31-27.3	pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	copy number loss	not specified [RCV002053395]	Chr3:183178932..186838042 [GRCh37] Chr3:3q27.1-27.3	pathogenic
GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	copy number loss	not specified [RCV002053393]	Chr3:182189525..187212935 [GRCh37] Chr3:3q26.33-27.3	pathogenic
NC_000003.11:g.(?_182733226)_(184094097_?)del	deletion	3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003116435]\|ALG3-congenital disorder of glycosylation [RCV003116434]	Chr3:182733226..184094097 [GRCh37] Chr3:3q27.1	pathogenic\|uncertain significance
NC_000003.11:g.(?_183368145)_(184094097_?)del	deletion	not provided [RCV003113479]	Chr3:183368145..184094097 [GRCh37] Chr3:3q27.1	uncertain significance
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	copy number gain	See cases [RCV002286344]	Chr3:183498520..197851986 [GRCh37] Chr3:3q27.1-29	pathogenic
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	copy number gain	Isolated anorectal malformation [RCV002286610]	Chr3:171558472..197871052 [GRCh37] Chr3:3q26.31-29	likely pathogenic
GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	copy number loss	Short stature [RCV002280742]	Chr3:183556940..188083060 [GRCh37] Chr3:3q27.1-28	pathogenic
GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	copy number loss	not provided [RCV002291534]	Chr3:181062175..185474509 [GRCh37] Chr3:3q26.33-27.2	pathogenic
Single allele	duplication	not provided [RCV003448704]	Chr3:176412210..197847235 [GRCh37] Chr3:3q26.32-29	pathogenic
Single allele	duplication	not provided [RCV003448680]	Chr3:140154329..197847235 [GRCh37] Chr3:3q23-29	pathogenic
GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	copy number loss	not specified [RCV003986441]	Chr3:179391972..185539073 [GRCh37] Chr3:3q26.33-27.2	pathogenic
GRCh37/hg19 3q27.1-27.2(chr3:183822591-185678620)x3	copy number gain	not specified [RCV003986419]	Chr3:183822591..185678620 [GRCh37] Chr3:3q27.1-27.2	uncertain significance
NM_006232.5(POLR2H):c.237T>G (p.Asp79Glu)	single nucleotide variant	not specified [RCV004514400]	Chr3:184365212 [GRCh38] Chr3:184083000 [GRCh37] Chr3:3q27.1	uncertain significance
NM_006232.5(POLR2H):c.353A>T (p.Tyr118Phe)	single nucleotide variant	not specified [RCV004514401]	Chr3:184368194 [GRCh38] Chr3:184085982 [GRCh37] Chr3:3q27.1	uncertain significance
GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	copy number gain	See cases [RCV004442807]	Chr3:179313373..197851444 [GRCh37] Chr3:3q26.33-29	pathogenic
GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	copy number loss	Fetal growth restriction [RCV004574943]	Chr3:183020090..185760128 [GRCh38] Chr3:3q27.1-27.2	pathogenic
NM_006232.5(POLR2H):c.346G>A (p.Val116Met)	single nucleotide variant	not specified [RCV004664666]	Chr3:184368187 [GRCh38] Chr3:184085975 [GRCh37] Chr3:3q27.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3400
Count of miRNA genes:	747
Interacting mature miRNAs:	877
Transcripts:	ENST00000296223, ENST00000412877, ENST00000429568, ENST00000430783, ENST00000438240, ENST00000443489, ENST00000452961, ENST00000455712, ENST00000456318, ENST00000460083, ENST00000476003, ENST00000488213, ENST00000489043, ENST00000490958
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
406954578	GWAS603554_H	platelet crit QTL GWAS603554 (human)		9e-42	platelet crit	plateletcrit (CMO:0001349)	3	184365748	184365749	Human
407149281	GWAS798257_H	platelet count QTL GWAS798257 (human)		7e-13	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	3	184367270	184367271	Human
407107451	GWAS756427_H	platelet crit QTL GWAS756427 (human)		4e-13	platelet crit	plateletcrit (CMO:0001349)	3	184367170	184367171	Human
407148572	GWAS797548_H	platelet count QTL GWAS797548 (human)		4e-10	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	3	184367270	184367271	Human
407107950	GWAS756926_H	platelet count QTL GWAS756926 (human)		4e-13	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	3	184367270	184367271	Human

Markers in Region

D3S3578

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	184,084,739 - 184,084,978	UniSTS	GRCh37
Build 36	3	185,567,433 - 185,567,672	RGD	NCBI36
Celera	3	182,525,709 - 182,525,948	RGD
Cytogenetic Map	3	q27	UniSTS
Cytogenetic Map	3	q28	UniSTS
HuRef	3	181,491,274 - 181,491,513	UniSTS
Marshfield Genetic Map	3	195.6	RGD
Marshfield Genetic Map	3	195.6	UniSTS
Genethon Genetic Map	3	201.6	UniSTS

SHGC-35471

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	184,086,125 - 184,086,349	UniSTS	GRCh37
Build 36	3	185,568,819 - 185,569,043	RGD	NCBI36
Celera	3	182,527,095 - 182,527,319	RGD
Cytogenetic Map	3	q28	UniSTS
Cytogenetic Map	3	q27	UniSTS
HuRef	3	181,492,660 - 181,492,884	UniSTS
Stanford-G3 RH Map	15	865.0	UniSTS
NCBI RH Map	15	224.2	UniSTS
GeneMap99-G3 RH Map	15	865.0	UniSTS

RH91810

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	184,086,105 - 184,086,281	UniSTS	GRCh37
Build 36	3	185,568,799 - 185,568,975	RGD	NCBI36
Celera	3	182,527,075 - 182,527,251	RGD
Cytogenetic Map	3	q28	UniSTS
Cytogenetic Map	3	q27	UniSTS
HuRef	3	181,492,640 - 181,492,816	UniSTS
GeneMap99-GB4 RH Map	3	697.3	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	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2251	4973	1726	2351	5	624	1951	465	2269	7302	6468	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001278698	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001278699	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001278700	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001278714	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001278715	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001346879	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389576	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389578	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389579	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389581	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389582	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389583	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389584	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389585	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389586	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389587	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389588	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006232	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006713666	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006713667	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017006636	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017006637	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024453602	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047448341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047448342	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047448343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054346911	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054346912	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054346913	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054346914	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054346915	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054346916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA431357	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC078797	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI244238	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ252079	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ252080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG529732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI603667	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM541682	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ065952	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX283032	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471052	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN368789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY164762	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY178178	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U37689	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z49199	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000412877 ⟹ ENSP00000403728

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	184,361,723 - 184,363,527 (+)	Ensembl

Ensembl Acc Id:

ENST00000429568 ⟹ ENSP00000415536

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	184,363,434 - 184,368,596 (+)	Ensembl

Ensembl Acc Id:

ENST00000430783 ⟹ ENSP00000411883

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	184,363,002 - 184,368,593 (+)	Ensembl

Ensembl Acc Id:

ENST00000438240 ⟹ ENSP00000398622

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	184,361,789 - 184,368,550 (+)	Ensembl

Ensembl Acc Id:

ENST00000443489 ⟹ ENSP00000393773

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	184,363,361 - 184,368,591 (+)	Ensembl

Ensembl Acc Id:

ENST00000452961 ⟹ ENSP00000399882

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	184,363,403 - 184,368,533 (+)	Ensembl

Ensembl Acc Id:

ENST00000455712 ⟹ ENSP00000409065

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	184,362,615 - 184,368,287 (+)	Ensembl

Ensembl Acc Id:

ENST00000456318 ⟹ ENSP00000392913

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	184,361,710 - 184,368,591 (+)	Ensembl

Ensembl Acc Id:

ENST00000460083

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	184,362,443 - 184,363,249 (+)	Ensembl

Ensembl Acc Id:

ENST00000476003

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	184,366,515 - 184,368,538 (+)	Ensembl

Ensembl Acc Id:

ENST00000488213

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	184,364,451 - 184,368,434 (+)	Ensembl

Ensembl Acc Id:

ENST00000489043

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	184,364,955 - 184,368,253 (+)	Ensembl

Ensembl Acc Id:

ENST00000490958

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	184,365,007 - 184,365,523 (+)	Ensembl

RefSeq Acc Id:

NM_001278698 ⟹ NP_001265627

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,363,361 - 184,368,591 (+)	NCBI
GRCh37	3	184,079,502 - 184,086,383 (+)	NCBI
HuRef	3	181,485,934 - 181,492,918 (+)	NCBI
CHM1_1	3	184,045,230 - 184,050,843 (+)	NCBI
T2T-CHM13v2.0	3	187,172,629 - 187,177,848 (+)	NCBI

Sequence:

show sequence

ACTCTCGTCTGGCCGCCGCGCTTTCAGGAGGTGCTTTTGGTTCTCTCCGGTCTTGTCCACGCTA
GGGGGTGCACGTACTCCCAACTGTGGTCGCGCTCTCACCCCTTCTGCTGCTCTCGTGGCCCCCT
CGCGATGGCGGGCATCCTGTTTGAGGATATTTTCGATGTGAAGGATATTGACCCGGAGGGCAAG
AAGTTTGACCGAGTGTCTCGACTGCATTGTGAGAGTGAATCTTTCAAGATGGATCTAATCTTAG
ATGTAAACATTCAAATTTACCCTGTAGACTTGGGTGACAAGTTTCGGTTGGTCATAGCTAGTAC
CTTGTATGAAGATGGTACCCTGGATGATGGTGAATACAACCCCACTGATGATAGGCCTTCCAGG
GCTGACCAGTTTGAGTATGTAATGTATGGAAAAGTGTACAGGATTGAGGGAGATGAAACTTCTA
CTGAAGCAGCAACACGCCTGCTGAGATTGAGAGCTGCTGAGTGGCAGTGCTCCAGAATCACGGG
ATGGGGCCTTCTGTTTCAGCTCTGCGTACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGG
GGATGCCAACAACCTGCATGGATTCGAGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTA
GCCTTCTGAACCTCGCCTGAAGCCAGCCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCA
AGCCTGAGTGGCAGCCGCTCTTGCTCACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGC
GGCATCTTTAACTGGCCTCCACTCAATGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGA
GCTGAAAATGAATCAGAAGCTTTATGTATATGATTTTTAAATTAAACTTTACTTTTTCAGACTG
CCCCTCCCCTTTTTGTAAAAAGTCCATTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001278699 ⟹ NP_001265628

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,361,710 - 184,368,591 (+)	NCBI
GRCh37	3	184,079,502 - 184,086,383 (+)	NCBI
HuRef	3	181,485,934 - 181,492,918 (+)	NCBI
CHM1_1	3	184,045,230 - 184,050,843 (+)	NCBI
T2T-CHM13v2.0	3	187,170,978 - 187,177,848 (+)	NCBI

Sequence:

show sequence

ATCCGGAGGGGACGGCCCAGCCAGGCTGGGGTCCGCGCGGGGCCTCCCGAGAGGCGGCAAGGGG
CGCTGGGAAGGCGCAAGCCCGCGCCGGCTCCCTGCGGATGCCCGGGTCGGAGAGGGGCGCCCGG
GAGGGGCGGGTCTACTGGCACGTGGAGGGGCCGGCCCGGGTTCGCGGTTCCCCGTGCCCAGGCA
GGAGGGGCTGCAGACGCCTGAGCTCCGTAGGGGTTGGGGCTGGGGGCTGCGGAGCTGTCTACAT
CGGACTCCTCCGGGTCAGCCCGTTAGGAGCCGCCTCCCCTCTGCCCCTCCGAAGAGACGAGCGG
CCCAGACAGGCCTGGGAAGGCCCCTCTGCCCCGTCAGGGGTGAAAAGCAAAGCTGGAAGGATTC
GGAGAGGGTTGGGGCCGTCTTCCTCATCCTTCCTTTTCTCGGGGCTCCCGTGGCGACGTCATGG
CAAATTCCCAAACTGGACGGATCCGGCTCGGGTTACGTCCAGCAGGGCCGAGCCGGCCCAGGCC
GGCCCCGGGGTCCTCGGTGCCGGCTGGAGGGGCTGGGCACCTCTGGGGCGGGGTTCTGCTCCAC
CTGCCCTCGGCGCGGACTGTGCCCTCGGCGGGCACGCGGACCGGCGGGGTAGGGCTAGGGCCCG
GCTTCTCTGGGCCAAGGATCAAGGTCCCTGCCTGGGTTAGGCCCCCACGCATTCCAGTCTTCGG
AACCCGGCCTCTGAAGAGGGCGCAGTAGGGCCCCAGCGGAGCGCGAGAACCCGCTCTACAGCCT
ATTGCTTCCCCGCCCTGGGCAGAGCCACCTGGACATGAGACCCGCCCTCAATGCCGAAGCCTCT
CGGAAGCAATCTTTCGGGACGGAAGTTAAGTAGCCCCGAGCGGGAGGCTGTGGCGGAAGTGGTC
GCGTTACCGCTTGTTTGTGCGCATGCGCCACTCTCGTCTGGCCGCCGCGCTTTCAGGAGGTGCT
TTTGGTTCTCTCCGGTCTTGTCCACGCTAGGGGGTGCACGTACTCCCAACTGTGGTCGCGCTCT
CACCCCTTCTGCTGCTCTCGTGGCCCCCTCGCGATGGCGGGCATCCTGTTTGAGGATATTTTCG
ATGTGAAGGATATTGACCCGGAGGGCAAGAAGTTTGACCGAGGTAAGTAAGTGTCTCGACTGCA
TTGTGAGAGTGAATCTTTCAAGATGGATCTAATCTTAGATGTAAACATTCAAATTTACCCTGTA
GACTTGGGTGACAAGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAGATGGTACCCTGGATG
ATGGTGAATACAACCCCACTGATGATAGGCCTTCCAGGGCTGACCAGTTTGAGTATGTAATGTA
TGGAAAAGTGTACAGGATTGAGGGAGATGAAACTTCTACTGAAGCAGCAACACGCCTCTCTGCG
TACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACAACCTGCATGGATTCG
AGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAACCTCGCCTGAAGCCAG
CCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGGCAGCCGCTCTTGCTC
ACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAACTGGCCTCCACTCAA
TGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGAATCAGAAGCTTTATG
TATATGATTTTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTTTTTGTAAAAAGTCCA
TTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001278700 ⟹ NP_001265629

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,361,710 - 184,368,591 (+)	NCBI
GRCh37	3	184,079,502 - 184,086,383 (+)	NCBI
HuRef	3	181,485,934 - 181,492,918 (+)	NCBI
CHM1_1	3	184,043,961 - 184,050,843 (+)	NCBI
T2T-CHM13v2.0	3	187,170,978 - 187,177,848 (+)	NCBI

Sequence:

show sequence

ATCCGGAGGGGACGGCCCAGCCAGGCTGGGGTCCGCGCGGGGCCTCCCGAGAGGCGGCAAGGGG
CGCTGGGAAGGCGCAAGCCCGCGCCGGCTCCCTGCGGATGCCCGGGTCGGAGAGGGGCGCCCGG
GAGGGGCGGGTCTACTGGCACGTGGAGGGGCCGGCCCGGGTTCGCGGTTCCCCGTGCCCAGGCA
GGAGGGGCTGCAGACGCCTGAGCTCCGTAGGGGTTGGGGCTGGGGGCTGCGGAGCTGTCTACAT
CGGACTCCTCCGGGTCAGCCCGTTAGGAGCCGCCTCCCCTCTGCCCCTCCGAAGAGACGAGCGG
CCCAGACAGGCCTGGGAAGGCCCCTCTGCCCCGTCAGGGGTGAAAAGCAAAGCTGGAAGGATTC
GGAGAGGGTTGGGGCCGTCTTCCTCATCCTTCCTTTTCTCGGGGCTCCCGTGGTGTCTCGACTG
CATTGTGAGAGTGAATCTTTCAAGATGGATCTAATCTTAGATGTAAACATTCAAATTTACCCTG
TAGACTTGGGTGACAAGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAGATGGTACCCTGGA
TGATGGTGAATACAACCCCACTGATGATAGGCCTTCCAGGGCTGACCAGTTTGAGTATGTAATG
TATGGAAAAGTGTACAGGATTGAGGGAGATGAAACTTCTACTGAAGCAGCAACACGCCTCTCTG
CGTACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACAACCTGCATGGATT
CGAGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAACCTCGCCTGAAGCC
AGCCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGGCAGCCGCTCTTGC
TCACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAACTGGCCTCCACTC
AATGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGAATCAGAAGCTTTA
TGTATATGATTTTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTTTTTGTAAAAAGTC
CATTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001278714 ⟹ NP_001265643

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,363,361 - 184,368,591 (+)	NCBI
GRCh37	3	184,079,502 - 184,086,383 (+)	NCBI
HuRef	3	181,485,934 - 181,492,918 (+)	NCBI
CHM1_1	3	184,045,230 - 184,050,843 (+)	NCBI
T2T-CHM13v2.0	3	187,172,629 - 187,177,848 (+)	NCBI

Sequence:

show sequence

ACTCTCGTCTGGCCGCCGCGCTTTCAGGAGGTGCTTTTGGTTCTCTCCGGTCTTGTCCACGCTA
GGGGGTGCACGTACTCCCAACTGTGGTCGCGCTCTCACCCCTTCTGCTGCTCTCGTGGCCCCCT
CGCGATGGCGGGCATCCTGTTTGAGGATATTTTCGATGTGAAGGATATTGACCCGGAGGGCAAG
AAGTTTGACCGAGTGTCTCGACTGCATTGTGAGAGTGAATCTTTCAAGATGGATCTAATCTTAG
ATGTAAACATTCAAATTTACCCTGTAGACTTGGGTGACAAGTTTCGGTTGGTCATAGCTAGTAC
CTTGTATGAAGATGGTACCCTGGATGATGGTGAATACAACCCCACTGATGATAGGCCTTCCAGC
TCTGCGTACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACAACCTGCATG
GATTCGAGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAACCTCGCCTGA
AGCCAGCCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGGCAGCCGCTC
TTGCTCACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAACTGGCCTCC
ACTCAATGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGAATCAGAAGC
TTTATGTATATGATTTTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTTTTTGTAAAA
AGTCCATTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001278715 ⟹ NP_001265644

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,363,361 - 184,368,591 (+)	NCBI
GRCh37	3	184,079,502 - 184,086,383 (+)	NCBI
HuRef	3	181,485,934 - 181,492,918 (+)	NCBI
CHM1_1	3	184,045,230 - 184,050,843 (+)	NCBI
T2T-CHM13v2.0	3	187,172,629 - 187,177,848 (+)	NCBI

Sequence:

show sequence

ACTCTCGTCTGGCCGCCGCGCTTTCAGGAGGTGCTTTTGGTTCTCTCCGGTCTTGTCCACGCTA
GGGGGTGCACGTACTCCCAACTGTGGTCGCGCTCTCACCCCTTCTGCTGCTCTCGTGGCCCCCT
CGCGATGGCGGGCATCCTGTTTGAGGATATTTTCGATGTGAAGGATATTGACCCGGAGGGCAAG
AAGTTTGACCGAGGTAAGTAAGTGTCTCGACTGCATTGTGAGAGTGAATCTTTCAAGATGGATC
TAATCTTAGATGTAAACATTCAAATTTACCCTGTAGACTTGGGTGACAAGTTTCGGTTGGTCAT
AGCTAGTACCTTGTATGAAGATGGTACCCTGGATGATGGTGAATACAACCCCACTGATGATAGG
CCTTCCAGCTCTGCGTACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACA
ACCTGCATGGATTCGAGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAAC
CTCGCCTGAAGCCAGCCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGG
CAGCCGCTCTTGCTCACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAA
CTGGCCTCCACTCAATGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGA
ATCAGAAGCTTTATGTATATGATTTTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTT
TTTGTAAAAAGTCCATTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001346879 ⟹ NP_001333808

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,361,710 - 184,368,591 (+)	NCBI
T2T-CHM13v2.0	3	187,170,978 - 187,177,848 (+)	NCBI

Sequence:

show sequence

ATCCGGAGGGGACGGCCCAGCCAGGCTGGGGTCCGCGCGGGGCCTCCCGAGAGGCGGCAAGGGG
CGCTGGGAAGGCGCAAGCCCGCGCCGGCTCCCTGCGGATGCCCGGGTCGGAGAGGGGCGCCCGG
GAGGGGCGGGTCTACTGGCACGTGGAGGGGCCGGCCCGGGTTCGCGGTTCCCCGTGCCCAGGCA
GGAGGGGCTGCAGACGCCTGAGCTCCGTAGGGGTTGGGGCTGGGGGCTGCGGAGCTGTCTACAT
CGGACTCCTCCGGGTCAGCCCGTTAGGAGCCGCCTCCCCTCTGCCCCTCCGAAGAGACGAGCGG
CCCAGACAGGCCTGGGAAGGCCCCTCTGCCCCGTCAGGGGTGAAAAGCAAAGCTGGAAGGATTC
GGAGAGGGTTGGGGCCGTCTTCCTCATCCTTCCTTTTCTCGGGGCTCCCGTGGTGTCTCGACTG
CATTGTGAGAGTGAATCTTTCAAGATGGATCTAATCTTAGATGTAAACATTCAAATTTACCCTG
TAGACTTGGGTGACAAGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAGATGGTACCCTGGA
TGATGGTGAATACAACCCCACTGATGATAGGCCTTCCAGGGCTGACCAGTTTGAGTATGTAATG
TATGGAAAAGTGTACAGGATTGAGGGAGATGAAACTTCTACTGAAGCAGCAACACGCCTGCTGA
GATTGAGAGCTGCTGAGTGGCAGTGCTCCAGAATCACGGGATGGGGCCTTCTGTTTCAGCTCTG
CGTACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACAACCTGCATGGATT
CGAGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAACCTCGCCTGAAGCC
AGCCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGGCAGCCGCTCTTGC
TCACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAACTGGCCTCCACTC
AATGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGAATCAGAAGCTTTA
TGTATATGATTTTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTTTTTGTAAAAAGTC
CATTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001389576 ⟹ NP_001376505

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,361,710 - 184,368,591 (+)	NCBI
T2T-CHM13v2.0	3	187,170,978 - 187,177,848 (+)	NCBI

Sequence:

show sequence

ATCCGGAGGGGACGGCCCAGCCAGGCTGGGGTCCGCGCGGGGCCTCCCGAGAGGCGGCAAGGGG
CGCTGGGAAGGCGCAAGCCCGCGCCGGCTCCCTGCGGATGCCCGGGTCGGAGAGGGGCGCCCGG
GAGGGGCGGGTCTACTGGCACGTGGAGGGGCCGGCCCGGGTTCGCGGTTCCCCGTGCCCAGGCA
GGAGGGGCTGCAGACGCCTGAGCTCCGTAGGGGTTGGGGCTGGGGGCTGCGGAGCTGTCTACAT
CGGACTCCTCCGGGTCAGCCCGTTAGGAGCCGCCTCCCCTCTGCCCCTCCGAAGAGACGAGCGG
CCCAGACAGGCCTGGGAAGGCCCCTCTGCCCCGTCAGGGGTGAAAAGCAAAGCTGGAAGGATTC
GGAGAGGGTTGGGGCCGTCTTCCTCATCCTTCCTTTTCTCGGGGCTCCCGTGGAGCCACCTGGA
CATGAGACCCGCCCTCAATGCCGAAGCCTCTCGGAAGCAATCTTTCGGGACGGAAGTTAAGTAG
CCCCGAGCGGGAGGCTGTGGCGGAAGTGGTCGCGTTACCGCTTGTTTGTGCGCATGCGCCACTC
TCGTCTGGCCGCCGCGCTTTCAGGAGGTGCTTTTGGTTCTCTCCGGTCTTGTCCACGCTAGGGG
GTGCACGTACTCCCAACTGTGGTCGCGCTCTCACCCCTTCTGCTGCTCTCGTGGCCCCCTCGCG
ATGGCGGGCATCCTGTTTGAGGATATTTTCGATGTGAAGGATATTGACCCGGAGGGCAAGAAGT
TTGACCGAGTGTCTCGACTGCATTGTGAGAGTGAATCTTTCAAGATGGATCTAATCTTAGATGT
AAACATTCAAATTTACCCTGTAGACTTGGGTGACAAGTTTCGGTTGGTCATAGCTAGTACCTTG
TATGAAGATGGTACCCTGGATGATGGTGAATACAACCCCACTGATGATAGGCCTTCCAGGGCTG
ACCAGTTTGAGTATGTAATGTATGGAAAAGTGTACAGGATTGAGGGAGATGAAACTTCTACTGA
AGCAGCAACACGCCTCTCTGCGTACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGGGGAT
GCCAACAACCTGCATGGATTCGAGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTAGCCT
TCTGAACCTCGCCTGAAGCCAGCCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCAAGCC
TGAGTGGCAGCCGCTCTTGCTCACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGCGGCA
TCTTTAACTGGCCTCCACTCAATGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGAGCTG
AAAATGAATCAGAAGCTTTATGTATATGATTTTTAAATTAAACTTTACTTTTTCAGACTGCCCC
TCCCCTTTTTGTAAAAAGTCCATTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001389578 ⟹ NP_001376507

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,361,710 - 184,368,591 (+)	NCBI
T2T-CHM13v2.0	3	187,170,978 - 187,177,848 (+)	NCBI

Sequence:

show sequence

ATCCGGAGGGGACGGCCCAGCCAGGCTGGGGTCCGCGCGGGGCCTCCCGAGAGGCGGCAAGGGG
CGCTGGGAAGGCGCAAGCCCGCGCCGGCTCCCTGCGGATGCCCGGGTCGGAGAGGGGCGCCCGG
GAGGGGCGGGTCTACTGGCACGTGGAGGGGCCGGCCCGGGTTCGCGGTTCCCCGTGCCCAGGCA
GGAGGGGCTGCAGACGCCTGAGCTCCGTAGGGGTTGGGGCTGGGGGCTGCGGAGCTGTCTACAT
CGGACTCCTCCGGGTCAGCCCGTTAGGAGCCGCCTCCCCTCTGCCCCTCCGAAGAGACGAGCGG
CCCAGACAGGCCTGGGAAGGCCCCTCTGCCCCGTCAGGGGTGAAAAGCAAAGCTGGAAGGATTC
GGAGAGGGTTGGGGCCGTCTTCCTCATCCTTCCTTTTCTCGGGGCTCCCGTGGGCCCCCACGCA
TTCCAGTCTTCGGAACCCGGCCTCTGAAGAGGGCGCAGTAGGGCCCCAGCGGAGCGCGAGAACC
CGCTCTACAGCCTATTGCTTCCCCGCCCTGGGCAGAGCCACCTGGACATGAGACCCGCCCTCAA
TGCCGAAGCCTCTCGGAAGCAATCTTTCGGGACGGAAGTTAAGTAGCCCCGAGCGGGAGGCTGT
GGCGGAAGTGGTCGCGTTACCGCTTGTTTGTGCGCATGCGCCACTCTCGTCTGGCCGCCGCGCT
TTCAGGAGGTGCTTTTGGTTCTCTCCGGTCTTGTCCACGCTAGGGGGTGCACGTACTCCCAACT
GTGGTCGCGCTCTCACCCCTTCTGCTGCTCTCGTGGCCCCCTCGCGATGGCGGGCATCCTGTTT
GAGGATATTTTCGATGTGAAGGATATTGACCCGGAGGGCAAGAAGTTTGACCGAGTGTCTCGAC
TGCATTGTGAGAGTGAATCTTTCAAGATGGATCTAATCTTAGATGTAAACATTCAAATTTACCC
TGTAGACTTGGGTGACAAGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAGATGGTACCCTG
GATGATGGTGAATACAACCCCACTGATGATAGGCCTTCCAGGGCTGACCAGTTTGAGTATGTAA
TGTATGGAAAAGTGTACAGGATTGAGGGAGATGAAACTTCTACTGAAGCAGCAACACGCCTCTC
TGCGTACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACAACCTGCATGGA
TTCGAGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAACCTCGCCTGAAG
CCAGCCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGGCAGCCGCTCTT
GCTCACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAACTGGCCTCCAC
TCAATGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGAATCAGAAGCTT
TATGTATATGATTTTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTTTTTGTAAAAAG
TCCATTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001389579 ⟹ NP_001376508

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,362,241 - 184,368,591 (+)	NCBI
T2T-CHM13v2.0	3	187,171,509 - 187,177,848 (+)	NCBI

Sequence:

show sequence

AGGTGCCGGGAAGTCTACTCCTGGGACGCGGGCGTGGGTCGCTTCTCCCTGGCTGGGCCCAAGG
AGGAACCCAAGTCGCTGCTTCCATCCCTCCGCTTTGGGGGAACTGCCTGCTGGTGTTCTGGGTT
CTCTATCAGGGGCTGGGGAAGGATAGAACAGAGGGCGGAGCGCGCGCAGGGTGGATGGGCAGCG
TAGAGATAGTGTGAGAGGAGCGAGGGCAGCGCCCAGGAAACGCACAAGTGTGCGGGAGAGCCAG
CACCAGGAAGCCACCTGGACATGAGACCCGCCCTCAATGCCGAAGCCTCTCGGAAGCAATCTTT
CGGGACGGAAGTTAAGTAGCCCCGAGCGGGAGGCTGTGGCGGAAGTGGTCGCGTTACCGCTTGT
TTGTGCGCATGCGCCACTCTCGTCTGGCCGCCGCGCTTTCAGGAGGTGCTTTTGGTTCTCTCCG
GTCTTGTCCACGCTAGGGGGTGCACGTACTCCCAACTGTGGTCGCGCTCTCACCCCTTCTGCTG
CTCTCGTGGCCCCCTCGCGATGGCGGGCATCCTGTTTGAGGATATTTTCGATGTGAAGGATATT
GACCCGGAGGGCAAGAAGTTTGACCGAGTGTCTCGACTGCATTGTGAGAGTGAATCTTTCAAGA
TGGATCTAATCTTAGATGTAAACATTCAAATTTACCCTGTAGACTTGGGTGACAAGTTTCGGTT
GGTCATAGCTAGTACCTTGTATGAAGATGGTACCCTGGATGATGGTGAATACAACCCCACTGAT
GATAGGCCTTCCAGGGCTGACCAGTTTGAGTATGTAATGTATGGAAAAGTGTACAGGATTGAGG
GAGATGAAACTTCTACTGAAGCAGCAACACGCCTCTCTGCGTACGTGTCCTATGGGGGCCTGCT
CATGAGGCTGCAGGGGGATGCCAACAACCTGCATGGATTCGAGGTGGACTCCAGAGTTTATCTC
CTGATGAAGAAGCTAGCCTTCTGAACCTCGCCTGAAGCCAGCCTCTCTGCCAAGTCACTCAGGT
CATGGGCATTGTTCAAGCCTGAGTGGCAGCCGCTCTTGCTCACCTGTTGAGGAAGGGCTGGCTC
ACTGTCCACCGTGGCGGCATCTTTAACTGGCCTCCACTCAATGGGAAACTGACTCGCCTGTGAA
AGACACAGTGGGAGAGCTGAAAATGAATCAGAAGCTTTATGTATATGATTTTTAAATTAAACTT
TACTTTTTCAGACTGCCCCTCCCCTTTTTGTAAAAAGTCCATTTACTGTAAAATCGTTTTTTCC
A

hide sequence

RefSeq Acc Id:

NM_001389581 ⟹ NP_001376510

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,362,241 - 184,368,591 (+)	NCBI
T2T-CHM13v2.0	3	187,171,509 - 187,177,848 (+)	NCBI

Sequence:

show sequence

AGGTGCCGGGAAGTCTACTCCTGGGACGCGGGCGTGGGTCGCTTCTCCCTGGCTGGGCCCAAGG
AGGAACCCAAGTCGCTGCTTCCATCCCTCCGCTTTGGGGGAACTGCCTGCTGGTGTTCTGGGTT
CTCTATCAGGGGCTGGGGAAGGATAGAACAGAGGGCGGAGCGCGCGCAGGGTGGATGGGCAGCG
TAGAGATAGTGTGAGAGGAGCGAGGGCAGCGCCCAGGAAACGCACAAGTGTGCGGGAGAGCCAG
CACCAGGACGACGTCATGGCAAATTCCCAAACTGGACGGATCCGGCTCGGGTTACGTCCAGCAG
GGCCGAGCCGGCCCAGGCCGGCCCCGGGGTCCTCGGTGCCGGCTGGAGGGGCTGGGCACCTCTG
GGGCGGGGTTCTGCTCCACCTGCCCTCGGCGCGGACTGTGCCCTCGGCGGGCACGCGGACCGGC
GGGGTAGGGCTAGGGCCCGGCTTCTCTGGGCCAAGGATCAAGGTCCCTGCCTGGGTTAGGCCCC
CACGCATTCCAGTCTTCGGAACCCGGCCTCTGAAGAGGGCGCAGTAGGGCCCCAGCGGAGCGCG
AGAACCCGCTCTACAGCCTATTGCTTCCCCGCCCTGGGCAGAGCCACCTGGACATGAGACCCGC
CCTCAATGCCGAAGCCTCTCGGAAGCAATCTTTCGGGACGGAAGTTAAGTAGCCCCGAGCGGGA
GGCTGTGGCGGAAGTGGTCGCGTTACCGCTTGTTTGTGCGCATGCGCCACTCTCGTCTGGCCGC
CGCGCTTTCAGGAGGTGCTTTTGGTTCTCTCCGGTCTTGTCCACGCTAGGGGGTGCACGTACTC
CCAACTGTGGTCGCGCTCTCACCCCTTCTGCTGCTCTCGTGGCCCCCTCGCGATGGCGGGCATC
CTGTTTGAGGATATTTTCGATGTGAAGGATATTGACCCGGAGGGCAAGAAGTTTGACCGAGTGT
CTCGACTGCATTGTGAGAGTGAATCTTTCAAGATGGATCTAATCTTAGATGTAAACATTCAAAT
TTACCCTGTAGACTTGGGTGACAAGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAGATGGT
ACCCTGGATGATGGTGAATACAACCCCACTGATGATAGGCCTTCCAGGGCTGACCAGTTTGAGT
ATGTAATGTATGGAAAAGTGTACAGGATTGAGGGAGATGAAACTTCTACTGAAGCAGCAACACG
CCTCTCTGCGTACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACAACCTG
CATGGATTCGAGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAACCTCGC
CTGAAGCCAGCCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGGCAGCC
GCTCTTGCTCACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAACTGGC
CTCCACTCAATGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGAATCAG
AAGCTTTATGTATATGATTTTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTTTTTGT
AAAAAGTCCATTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001389582 ⟹ NP_001376511

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,362,606 - 184,368,591 (+)	NCBI
T2T-CHM13v2.0	3	187,171,874 - 187,177,848 (+)	NCBI

Sequence:

show sequence

AGTGTGAGGGAAGAGCTGGTATCCAAGGGACAGGGCAGTGCCAGGCTGAAGGGGCACGGAGGGG
ATCCGTGTCCAGGAGAAGGCAGTGGAGGGGGAACGCGCAGCACTAAGCTGGAGGGCGACGTCAT
GGCAAATTCCCAAACTGGACGGATCCGGCTCGGGTTACGTCCAGCAGGGCCGAGCCGGCCCAGG
CCGGCCCCGGGGTCCTCGGTGCCGGCTGGAGGGGCTGGGCACCTCTGGGGCGGGGTTCTGCTCC
ACCTGCCCTCGGCGCGGACTGTGCCCTCGGCGGGCACGCGGACCGGCGGGGTAGGGCTAGGGCC
CGGCTTCTCTGGGCCAAGGATCAAGGTCCCTGCCTGGGTTAGGCCCCCACGCATTCCAGTCTTC
GGAACCCGGCCTCTGAAGAGGGCGCAGTAGGGCCCCAGCGGAGCGCGAGAACCCGCTCTACAGC
CTATTGCTTCCCCGCCCTGGGCAGAGCCACCTGGACATGAGACCCGCCCTCAATGCCGAAGCCT
CTCGGAAGCAATCTTTCGGGACGGAAGTTAAGTAGCCCCGAGCGGGAGGCTGTGGCGGAAGTGG
TCGCGTTACCGCTTGTTTGTGCGCATGCGCCACTCTCGTCTGGCCGCCGCGCTTTCAGGAGGTG
CTTTTGGTTCTCTCCGGTCTTGTCCACGCTAGGGGGTGCACGTACTCCCAACTGTGGTCGCGCT
CTCACCCCTTCTGCTGCTCTCGTGGCCCCCTCGCGATGGCGGGCATCCTGTTTGAGGATATTTT
CGATGTGAAGGATATTGACCCGGAGGGCAAGAAGTTTGACCGAGTGTCTCGACTGCATTGTGAG
AGTGAATCTTTCAAGATGGATCTAATCTTAGATGTAAACATTCAAATTTACCCTGTAGACTTGG
GTGACAAGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAGATGGTACCCTGGATGATGGTGA
ATACAACCCCACTGATGATAGGCCTTCCAGGGCTGACCAGTTTGAGTATGTAATGTATGGAAAA
GTGTACAGGATTGAGGGAGATGAAACTTCTACTGAAGCAGCAACACGCCTCTCTGCGTACGTGT
CCTATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACAACCTGCATGGATTCGAGGTGGA
CTCCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAACCTCGCCTGAAGCCAGCCTCTCT
GCCAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGGCAGCCGCTCTTGCTCACCTGTT
GAGGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAACTGGCCTCCACTCAATGGGAAA
CTGACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGAATCAGAAGCTTTATGTATATGA
TTTTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTTTTTGTAAAAAGTCCATTTACTG
TAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001389583 ⟹ NP_001376512

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,362,606 - 184,368,591 (+)	NCBI
T2T-CHM13v2.0	3	187,171,874 - 187,177,848 (+)	NCBI

Sequence:

show sequence

AGTGTGAGGGAAGAGCTGGTATCCAAGGGACAGGGCAGTGCCAGGCTGAAGGGGCACGGAGGGG
ATCCGTGTCCAGGAGAAGGCAGTGGAGGGGGAACGCGCAGCACTAAGCTGGAGGGGCCCCCACG
CATTCCAGTCTTCGGAACCCGGCCTCTGAAGAGGGCGCAGTAGGGCCCCAGCGGAGCGCGAGAA
CCCGCTCTACAGCCTATTGCTTCCCCGCCCTGGGCAGAGCCACCTGGACATGAGACCCGCCCTC
AATGCCGAAGCCTCTCGGAAGCAATCTTTCGGGACGGAAGTTAAGTAGCCCCGAGCGGGAGGCT
GTGGCGGAAGTGGTCGCGTTACCGCTTGTTTGTGCGCATGCGCCACTCTCGTCTGGCCGCCGCG
CTTTCAGGAGGTGCTTTTGGTTCTCTCCGGTCTTGTCCACGCTAGGGGGTGCACGTACTCCCAA
CTGTGGTCGCGCTCTCACCCCTTCTGCTGCTCTCGTGGCCCCCTCGCGATGGCGGGCATCCTGT
TTGAGGATATTTTCGATGTGAAGGATATTGACCCGGAGGGCAAGAAGTTTGACCGAGTGTCTCG
ACTGCATTGTGAGAGTGAATCTTTCAAGATGGATCTAATCTTAGATGTAAACATTCAAATTTAC
CCTGTAGACTTGGGTGACAAGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAGATGGTACCC
TGGATGATGGTGAATACAACCCCACTGATGATAGGCCTTCCAGGGCTGACCAGTTTGAGTATGT
AATGTATGGAAAAGTGTACAGGATTGAGGGAGATGAAACTTCTACTGAAGCAGCAACACGCCTC
TCTGCGTACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACAACCTGCATG
GATTCGAGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAACCTCGCCTGA
AGCCAGCCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGGCAGCCGCTC
TTGCTCACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAACTGGCCTCC
ACTCAATGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGAATCAGAAGC
TTTATGTATATGATTTTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTTTTTGTAAAA
AGTCCATTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001389584 ⟹ NP_001376513

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,362,606 - 184,368,591 (+)	NCBI
T2T-CHM13v2.0	3	187,171,874 - 187,177,848 (+)	NCBI

Sequence:

show sequence

AGTGTGAGGGAAGAGCTGGTATCCAAGGGACAGGGCAGTGCCAGGCTGAAGGGGCACGGAGGGG
ATCCGTGTCCAGGAGAAGGCAGTGGAGGGGGAACGCGCAGCACTAAGCTGGAGGGAGCCACCTG
GACATGAGACCCGCCCTCAATGCCGAAGCCTCTCGGAAGCAATCTTTCGGGACGGAAGTTAAGT
AGCCCCGAGCGGGAGGCTGTGGCGGAAGTGGTCGCGTTACCGCTTGTTTGTGCGCATGCGCCAC
TCTCGTCTGGCCGCCGCGCTTTCAGGAGGTGCTTTTGGTTCTCTCCGGTCTTGTCCACGCTAGG
GGGTGCACGTACTCCCAACTGTGGTCGCGCTCTCACCCCTTCTGCTGCTCTCGTGGCCCCCTCG
CGATGGCGGGCATCCTGTTTGAGGATATTTTCGATGTGAAGGATATTGACCCGGAGGGCAAGAA
GTTTGACCGAGTGTCTCGACTGCATTGTGAGAGTGAATCTTTCAAGATGGATCTAATCTTAGAT
GTAAACATTCAAATTTACCCTGTAGACTTGGGTGACAAGTTTCGGTTGGTCATAGCTAGTACCT
TGTATGAAGATGGTACCCTGGATGATGGTGAATACAACCCCACTGATGATAGGCCTTCCAGGGC
TGACCAGTTTGAGTATGTAATGTATGGAAAAGTGTACAGGATTGAGGGAGATGAAACTTCTACT
GAAGCAGCAACACGCCTCTCTGCGTACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGGGG
ATGCCAACAACCTGCATGGATTCGAGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTAGC
CTTCTGAACCTCGCCTGAAGCCAGCCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCAAG
CCTGAGTGGCAGCCGCTCTTGCTCACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGCGG
CATCTTTAACTGGCCTCCACTCAATGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGAGC
TGAAAATGAATCAGAAGCTTTATGTATATGATTTTTAAATTAAACTTTACTTTTTCAGACTGCC
CCTCCCCTTTTTGTAAAAAGTCCATTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001389585 ⟹ NP_001376514

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,361,710 - 184,368,591 (+)	NCBI
T2T-CHM13v2.0	3	187,170,978 - 187,177,848 (+)	NCBI

Sequence:

show sequence

ATCCGGAGGGGACGGCCCAGCCAGGCTGGGGTCCGCGCGGGGCCTCCCGAGAGGCGGCAAGGGG
CGCTGGGAAGGCGCAAGCCCGCGCCGGCTCCCTGCGGATGCCCGGGTCGGAGAGGGGCGCCCGG
GAGGGGCGGGTCTACTGGCACGTGGAGGGGCCGGCCCGGGTTCGCGGTTCCCCGTGCCCAGGCA
GGAGGGGCTGCAGACGCCTGAGCTCCGTAGGGGTTGGGGCTGGGGGCTGCGGAGCTGTCTACAT
CGGACTCCTCCGGGTCAGCCCGTTAGGAGCCGCCTCCCCTCTGCCCCTCCGAAGAGACGAGCGG
CCCAGACAGGCCTGGGAAGGCCCCTCTGCCCCGTCAGGGGTGAAAAGCAAAGCTGGAAGGATTC
GGAGAGGGTTGGGGCCGTCTTCCTCATCCTTCCTTTTCTCGGGGCTCCCGTGGGCCCCCACGCA
TTCCAGTCTTCGGAACCCGGCCTCTGAAGAGGGCGCAGTAGGGCCCCAGCGGAGCGCGAGAACC
CGCTCTACAGCCTATTGCTTCCCCGCCCTGGGCAGAGCCACCTGGACATGAGACCCGCCCTCAA
TGCCGAAGCCTCTCGGAAGCAATCTTTCGGGACGGAAGTTAAGTAGCCCCGAGCGGGAGGCTGT
GGCGGAAGTGGTCGCGTTACCGCTTGTTTGTGCGCATGCGCCACTCTCGTCTGGCCGCCGCGCT
TTCAGGAGGTGCTTTTGGTTCTCTCCGGTCTTGTCCACGCTAGGGGGTGCACGTACTCCCAACT
GTGGTCGCGCTCTCACCCCTTCTGCTGCTCTCGTGGCCCCCTCGCGATGGCGGGCATCCTGTTT
GAGGATATTTTCGATGTGAAGGATATTGACCCGGAGGGCAAGAAGTTTGACCGAGGTAAGTAAG
TGTCTCGACTGCATTGTGAGAGTGAATCTTTCAAGATGGATCTAATCTTAGATGTAAACATTCA
AATTTACCCTGTAGACTTGGGTGACAAGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAGAT
GGTACCCTGGATGATGGTGAATACAACCCCACTGATGATAGGCCTTCCAGGGCTGACCAGTTTG
AGTATGTAATGTATGGAAAAGTGTACAGGATTGAGGGAGATGAAACTTCTACTGAAGCAGCAAC
ACGCCTCTCTGCGTACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACAAC
CTGCATGGATTCGAGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAACCT
CGCCTGAAGCCAGCCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGGCA
GCCGCTCTTGCTCACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAACT
GGCCTCCACTCAATGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGAAT
CAGAAGCTTTATGTATATGATTTTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTTTT
TGTAAAAAGTCCATTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001389586 ⟹ NP_001376515

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,362,606 - 184,368,591 (+)	NCBI
T2T-CHM13v2.0	3	187,171,874 - 187,177,848 (+)	NCBI

Sequence:

show sequence

AGTGTGAGGGAAGAGCTGGTATCCAAGGGACAGGGCAGTGCCAGGCTGAAGGGGCACGGAGGGG
ATCCGTGTCCAGGAGAAGGCAGTGGAGGGGGAACGCGCAGCACTAAGCTGGAGGGCGACGTCAT
GGCAAATTCCCAAACTGGACGGATCCGGCTCGGGTTACGTCCAGCAGGGCCGAGCCGGCCCAGG
CCGGCCCCGGGGTCCTCGGTGCCGGCTGGAGGGGCTGGGCACCTCTGGGGCGGGGTTCTGCTCC
ACCTGCCCTCGGCGCGGACTGTGCCCTCGGCGGGCACGCGGACCGGCGGGGTAGGGCTAGGGCC
CGGCTTCTCTGGGCCAAGGATCAAGGTCCCTGCCTGGGTTAGGCCCCCACGCATTCCAGTCTTC
GGAACCCGGCCTCTGAAGAGGGCGCAGTAGGGCCCCAGCGGAGCGCGAGAACCCGCTCTACAGC
CTATTGCTTCCCCGCCCTGGGCAGAGCCACCTGGACATGAGACCCGCCCTCAATGCCGAAGCCT
CTCGGAAGCAATCTTTCGGGACGGAAGTTAAGTAGCCCCGAGCGGGAGGCTGTGGCGGAAGTGG
TCGCGTTACCGCTTGTTTGTGCGCATGCGCCACTCTCGTCTGGCCGCCGCGCTTTCAGGAGGTG
CTTTTGGTTCTCTCCGGTCTTGTCCACGCTAGGGGGTGCACGTACTCCCAACTGTGGTCGCGCT
CTCACCCCTTCTGCTGCTCTCGTGGCCCCCTCGCGATGGCGGGCATCCTGTTTGAGGATATTTT
CGATGTGAAGGATATTGACCCGGAGGGCAAGAAGTTTGACCGAGGTAAGTAAGTGTCTCGACTG
CATTGTGAGAGTGAATCTTTCAAGATGGATCTAATCTTAGATGTAAACATTCAAATTTACCCTG
TAGACTTGGGTGACAAGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAGATGGTACCCTGGA
TGATGGTGAATACAACCCCACTGATGATAGGCCTTCCAGGGCTGACCAGTTTGAGTATGTAATG
TATGGAAAAGTGTACAGGATTGAGGGAGATGAAACTTCTACTGAAGCAGCAACACGCCTCTCTG
CGTACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACAACCTGCATGGATT
CGAGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAACCTCGCCTGAAGCC
AGCCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGGCAGCCGCTCTTGC
TCACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAACTGGCCTCCACTC
AATGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGAATCAGAAGCTTTA
TGTATATGATTTTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTTTTTGTAAAAAGTC
CATTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001389587 ⟹ NP_001376516

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,362,606 - 184,368,591 (+)	NCBI
T2T-CHM13v2.0	3	187,171,874 - 187,177,848 (+)	NCBI

Sequence:

show sequence

AGTGTGAGGGAAGAGCTGGTATCCAAGGGACAGGGCAGTGCCAGGCTGAAGGGGCACGGAGGGG
ATCCGTGTCCAGGAGAAGGCAGTGGAGGGGGAACGCGCAGCACTAAGCTGGAGGGTGTCTCGAC
TGCATTGTGAGAGTGAATCTTTCAAGATGGATCTAATCTTAGATGTAAACATTCAAATTTACCC
TGTAGACTTGGGTGACAAGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAGATGGTACCCTG
GATGATGGTGAATACAACCCCACTGATGATAGGCCTTCCAGGGCTGACCAGTTTGAGTATGTAA
TGTATGGAAAAGTGTACAGGATTGAGGGAGATGAAACTTCTACTGAAGCAGCAACACGCCTCTC
TGCGTACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACAACCTGCATGGA
TTCGAGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAACCTCGCCTGAAG
CCAGCCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGGCAGCCGCTCTT
GCTCACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAACTGGCCTCCAC
TCAATGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGAATCAGAAGCTT
TATGTATATGATTTTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTTTTTGTAAAAAG
TCCATTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_001389588 ⟹ NP_001376517

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,362,606 - 184,368,591 (+)	NCBI
T2T-CHM13v2.0	3	187,171,874 - 187,177,848 (+)	NCBI

Sequence:

show sequence

AGTGTGAGGGAAGAGCTGGTATCCAAGGGACAGGGCAGTGCCAGGCTGAAGGGGCACGGAGGGG
ATCCGTGTCCAGGAGAAGGCAGTGGAGGGGGAACGCGCAGCACTAAGCTGGAGGGGCCCCCACG
CATTCCAGTCTTCGGAACCCGGCCTCTGAAGAGGGCGCAGTAGGGCCCCAGCGGAGCGCGAGAA
CCCGCTCTACAGCCTATTGCTTCCCCGCCCTGGGCAGAGCCACCTGGACATGAGACCCGCCCTC
AATGCCGAAGCCTCTCGGAAGCAATCTTTCGGGACGGAAGTTAAGTAGCCCCGAGCGGGAGGCT
GTGGCGGAAGTGGTCGCGTTACCGCTTGTTTGTGCGCATGCGCCACTCTCGTCTGGCCGCCGCG
CTTTCAGGAGGTGCTTTTGGTTCTCTCCGGTCTTGTCCACGCTAGGGGGTGCACGTACTCCCAA
CTGTGGTCGCGCTCTCACCCCTTCTGCTGCTCTCGTGGCCCCCTCGCGATGGCGGGCATCCTGT
TTGAGGATATTTTCGATGTGAAGGATATTGACCCGGAGGGCAAGAAGTTTGACCGAGGTAAGTA
AGTGTCTCGACTGCATTGTGAGAGTGAATCTTTCAAGATGGATCTAATCTTAGATGTAAACATT
CAAATTTACCCTGTAGACTTGGGTGACAAGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAG
ATGGTACCCTGGATGATGGTGAATACAACCCCACTGATGATAGGCCTTCCAGGGCTGACCAGTT
TGAGTATGTAATGTATGGAAAAGTGTACAGGATTGAGGGAGATGAAACTTCTACTGAAGCAGCA
ACACGCCTCTCTGCGTACGTGTCCTATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACA
ACCTGCATGGATTCGAGGTGGACTCCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAAC
CTCGCCTGAAGCCAGCCTCTCTGCCAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGG
CAGCCGCTCTTGCTCACCTGTTGAGGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAA
CTGGCCTCCACTCAATGGGAAACTGACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGA
ATCAGAAGCTTTATGTATATGATTTTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTT
TTTGTAAAAAGTCCATTTACTGTAAAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

NM_006232 ⟹ NP_006223

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,361,710 - 184,368,591 (+)	NCBI
GRCh37	3	184,079,502 - 184,086,383 (+)	NCBI
Build 36	3	185,563,888 - 185,569,057 (+)	NCBI Archive
HuRef	3	181,485,934 - 181,492,918 (+)	NCBI
CHM1_1	3	184,045,230 - 184,050,843 (+)	NCBI
T2T-CHM13v2.0	3	187,170,978 - 187,177,848 (+)	NCBI

Sequence:

show sequence

ATCCGGAGGGGACGGCCCAGCCAGGCTGGGGTCCGCGCGGGGCCTCCCGAGAGGCGGCAAGGGG
CGCTGGGAAGGCGCAAGCCCGCGCCGGCTCCCTGCGGATGCCCGGGTCGGAGAGGGGCGCCCGG
GAGGGGCGGGTCTACTGGCACGTGGAGGGGCCGGCCCGGGTTCGCGGTTCCCCGTGCCCAGGCA
GGAGGGGCTGCAGACGCCTGAGCTCCGTAGGGGTTGGGGCTGGGGGCTGCGGAGCTGTCTACAT
CGGACTCCTCCGGGTCAGCCCGTTAGGAGCCGCCTCCCCTCTGCCCCTCCGAAGAGACGAGCGG
CCCAGACAGGCCTGGGAAGGCCCCTCTGCCCCGTCAGGGGTGAAAAGCAAAGCTGGAAGGATTC
GGAGAGGGTTGGGGCCGTCTTCCTCATCCTTCCTTTTCTCGGGGCTCCCGTGGCGACGTCATGG
CAAATTCCCAAACTGGACGGATCCGGCTCGGGTTACGTCCAGCAGGGCCGAGCCGGCCCAGGCC
GGCCCCGGGGTCCTCGGTGCCGGCTGGAGGGGCTGGGCACCTCTGGGGCGGGGTTCTGCTCCAC
CTGCCCTCGGCGCGGACTGTGCCCTCGGCGGGCACGCGGACCGGCGGGGTAGGGCTAGGGCCCG
GCTTCTCTGGGCCAAGGATCAAGGTCCCTGCCTGGGTTAGGCCCCCACGCATTCCAGTCTTCGG
AACCCGGCCTCTGAAGAGGGCGCAGTAGGGCCCCAGCGGAGCGCGAGAACCCGCTCTACAGCCT
ATTGCTTCCCCGCCCTGGGCAGAGCCACCTGGACATGAGACCCGCCCTCAATGCCGAAGCCTCT
CGGAAGCAATCTTTCGGGACGGAAGTTAAGTAGCCCCGAGCGGGAGGCTGTGGCGGAAGTGGTC
GCGTTACCGCTTGTTTGTGCGCATGCGCCACTCTCGTCTGGCCGCCGCGCTTTCAGGAGGTGCT
TTTGGTTCTCTCCGGTCTTGTCCACGCTAGGGGGTGCACGTACTCCCAACTGTGGTCGCGCTCT
CACCCCTTCTGCTGCTCTCGTGGCCCCCTCGCGATGGCGGGCATCCTGTTTGAGGATATTTTCG
ATGTGAAGGATATTGACCCGGAGGGCAAGAAGTTTGACCGAGTGTCTCGACTGCATTGTGAGAG
TGAATCTTTCAAGATGGATCTAATCTTAGATGTAAACATTCAAATTTACCCTGTAGACTTGGGT
GACAAGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAGATGGTACCCTGGATGATGGTGAAT
ACAACCCCACTGATGATAGGCCTTCCAGGGCTGACCAGTTTGAGTATGTAATGTATGGAAAAGT
GTACAGGATTGAGGGAGATGAAACTTCTACTGAAGCAGCAACACGCCTCTCTGCGTACGTGTCC
TATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACAACCTGCATGGATTCGAGGTGGACT
CCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAACCTCGCCTGAAGCCAGCCTCTCTGC
CAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGGCAGCCGCTCTTGCTCACCTGTTGA
GGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAACTGGCCTCCACTCAATGGGAAACT
GACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGAATCAGAAGCTTTATGTATATGATT
TTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTTTTTGTAAAAAGTCCATTTACTGTA
AAATCGTTTTTTCCA

hide sequence

RefSeq Acc Id:

XM_006713666 ⟹ XP_006713729

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,361,710 - 184,368,591 (+)	NCBI

Sequence:

show sequence

ATCCGGAGGGGACGGCCCAGCCAGGCTGGGGTCCGCGCGGGGCCTCCCGAGAGGCGGCAAGGGG
CGCTGGGAAGGCGCAAGCCCGCGCCGGCTCCCTGCGGATGCCCGGGTCGGAGAGGGGCGCCCGG
GAGGGGCGGGTCTACTGGCACGTGGAGGGGCCGGCCCGGGTTCGCGGTTCCCCGTGCCCAGGCA
GGAGGGGCTGCAGACGCCTGAGCTCCGTAGGGGTTGGGGCTGGGGGCTGCGGAGCTGTCTACAT
CGGACTCCTCCGGGTCAGCCCGTTAGGAGCCGCCTCCCCTCTGCCCCTCCGAAGAGACGAGCGG
CCCAGACAGGCCTGGGAAGGCCCCTCTGCCCCGTCAGGGGTGAAAAGCAAAGCTGGAAGGATTC
GGAGAGGGTTGGGGCCGTCTTCCTCATCCTTCCTTTTCTCGGGGCTCCCGTGGCGACGTCATGG
CAAATTCCCAAACTGGACGGATCCGGCTCGGGTTACGTCCAGCAGGGCCGAGCCGGCCCAGGCC
GGCCCCGGGGTCCTCGGTGCCGGCTGGAGGGGCTGGGCACCTCTGGGGCGGGGTTCTGCTCCAC
CTGCCCTCGGCGCGGACTGTGCCCTCGGCGGGCACGCGGACCGGCGGGGTAGGGCTAGGGCCCG
GCTTCTCTGGGCCAAGGATCAAGGTCCCTGCCTGGGTTAGGCCCCCACGCATTCCAGTCTTCGG
AACCCGGCCTCTGAAGAGGGCGCAGTAGGGCCCCAGCGGAGCGCGAGAACCCGCTCTACAGCCT
ATTGCTTCCCCGCCCTGGGCAGAGCCACCTGGACATGAGACCCGCCCTCAATGCCGAAGCCTCT
CGGAAGCAATCTTTCGGGACGGAAGTTAAGTAGCCCCGAGCGGGAGGCTGTGGCGGAAGTGGTC
GCGTTACCGCTTGTTTGTGCGCATGCGCCACTCTCGTCTGGCCGCCGCGCTTTCAGGAGGTGCT
TTTGGTTCTCTCCGGTCTTGTCCACGCTAGGGGGTGCACGTACTCCCAACTGTGGTCGCGCTCT
CACCCCTTCTGCTGCTCTCGTGGCCCCCTCGCGATGGCGGGCATCCTGTTTGAGGATATTTTCG
ATGTGAAGGATATTGACCCGGAGGGCAAGAAGTTTGACCGAGTGTCTCGACTGCATTGTGAGAG
TGAATCTTTCAAGATGGATCTAATCTTAGATGTAAACATTCAAATTTACCCTGTAGACTTGGGT
GACAAGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAGATGGTACCCTGGATGATGGTGAAT
ACAACCCCACTGATGATAGGCCTTCCAGGGCTGACCAGTTTGAGTATGTAATGTATGGAAAAGT
GTACAGGATTGAGGGAGATGAAACTTCTACTGAAGCAGCAACACGCCTGCTGAGATTGAGAGCT
GCTGAGTGGCAGTGCTCCAGAATCACGGGATGGGGCCTTCTGTTTCAGCTCTGCGTACGTGTCC
TATGGGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACAACCTGCATGGATTCGAGGTGGACT
CCAGAGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAACCTCGCCTGAAGCCAGCCTCTCTGC
CAAGTCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGGCAGCCGCTCTTGCTCACCTGTTGA
GGAAGGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAACTGGCCTCCACTCAATGGGAAACT
GACTCGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGAATCAGAAGCTTTATGTATATGATT
TTTAAATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTTTTTGTAAAAAGTCCATTTACTGTA
AAATCGTTTTTTCCAGTT

hide sequence

RefSeq Acc Id:

XM_006713667 ⟹ XP_006713730

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,361,710 - 184,368,591 (+)	NCBI

Sequence:

show sequence

CAGCCAGGCTGGGGTCCGCGCGGGGCCTCCCGAGAGGCGGCAAGGGGCGCTGGGAAGGCGCAAG
CCCGCGCCGGCTCCCTGCGGATGCCCGGGTCGGAGAGGGGCGCCCGGGAGGGGCGGGTCTACTG
GCACGTGGAGGGGCCGGCCCGGGTTCGCGGTTCCCCGTGCCCAGGCAGGAGGGGCTGCAGACGC
CTGAGCTCCGTAGGGGTTGGGGCTGGGGGCTGCGGAGCTGTCTACATCGGACTCCTCCGGGTCA
GCCCGTTAGGAGCCGCCTCCCCTCTGCCCCTCCGAAGAGACGAGCGGCCCAGACAGGCCTGGGA
AGGCCCCTCTGCCCCGTCAGGGGTGAAAAGCAAAGCTGGAAGGATTCGGAGAGGGTTGGGGCCG
TCTTCCTCATCCTTCCTTTTCTCGGGGCTCCCGTGGGCCCCCACGCATTCCAGTCTTCGGAACC
CGGCCTCTGAAGAGGGCGCAGTAGGGCCCCAGCGGAGCGCGAGAACCCGCTCTACAGCCTATTG
CTTCCCCGCCCTGGGCAGAGCCACCTGGACATGAGACCCGCCCTCAATGCCGAAGCCTCTCGGA
AGCAATCTTTCGGGACGGAAGTTAAGTAGCCCCGAGCGGGAGGCTGTGGCGGAAGTGGTCGCGT
TACCGCTTGTTTGTGCGCATGCGCCACTCTCGTCTGGCCGCCGCGCTTTCAGGAGGTGCTTTTG
GTTCTCTCCGGTCTTGTCCACGCTAGGGGGTGCACGTACTCCCAACTGTGGTCGCGCTCTCACC
CCTTCTGCTGCTCTCGTGGCCCCCTCGCGATGGCGGGCATCCTGTTTGAGGATATTTTCGATGT
GAAGGATATTGACCCGGAGGGCAAGAAGTTTGACCGAGTGTCTCGACTGCATTGTGAGAGTGAA
TCTTTCAAGATGGATCTAATCTTAGATGTAAACATTCAAATTTACCCTGTAGACTTGGGTGACA
AGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAGATGGTACCCTGGATGATGGTGAATACAA
CCCCACTGATGATAGGCCTTCCAGGGCTGACCAGTTTGAGTATGTAATGTATGGAAAAGTGTAC
AGGATTGAGGGAGATGAAACTTCTACTGAAGCAGCAACACGCCTGCTGAGATTGAGAGCTGCTG
AGTGGCAGTGCTCCAGAATCACGGGATGGGGCCTTCTGTTTCAGCTCTGCGTACGTGTCCTATG
GGGGCCTGCTCATGAGGCTGCAGGGGGATGCCAACAACCTGCATGGATTCGAGGTGGACTCCAG
AGTTTATCTCCTGATGAAGAAGCTAGCCTTCTGAACCTCGCCTGAAGCCAGCCTCTCTGCCAAG
TCACTCAGGTCATGGGCATTGTTCAAGCCTGAGTGGCAGCCGCTCTTGCTCACCTGTTGAGGAA
GGGCTGGCTCACTGTCCACCGTGGCGGCATCTTTAACTGGCCTCCACTCAATGGGAAACTGACT
CGCCTGTGAAAGACACAGTGGGAGAGCTGAAAATGAATCAGAAGCTTTATGTATATGATTTTTA
AATTAAACTTTACTTTTTCAGACTGCCCCTCCCCTTTTTGTAAAAAGTCCATTTACTGTAAAAT
CGTTTTTTCCAGTT

hide sequence

RefSeq Acc Id:

XM_017006636 ⟹ XP_016862125

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,361,710 - 184,368,591 (+)	NCBI

Sequence:

show sequence

ATCCGGAGGGGACGGCCCAGCCAGGCTGGGGTCCGCGCGGGGCCTCCCGAGAGGCGGCAAGGGG
CGCTGGGAAGGCGCAAGCCCGCGCCGGCTCCCTGCGGATGCCCGGGTCGGAGAGGGGCGCCCGG
GAGGGGCGGGTCTACTGGCACGTGGAGGGGCCGGCCCGGGTTCGCGGTTCCCCGTGCCCAGGCA
GGAGGGGCTGCAGACGCCTGAGCTCCGTAGGGGTTGGGGCTGGGGGCTGCGGAGCTGTCTACAT
CGGACTCCTCCGGGTCAGCCCGTTAGGAGCCGCCTCCCCTCTGCCCCTCCGAAGAGACGAGCGG
CCCAGACAGGCCTGGGAAGGCCCCTCTGCCCCGTCAGGGGTGAAAAGCAAAGCTGGAAGGATTC
GGAGAGGGTTGGGGCCGTCTTCCTCATCCTTCCTTTTCTCGGGGCTCCCGTGGCGACGTCATGG
CAAATTCCCAAACTGGACGGATCCGGCTCGGGTTACGTCCAGCAGGGCCGAGCCGGCCCAGGCC
GGCCCCGGGGTCCTCGGTGCCGGCTGGAGGGGCTGGGCACCTCTGGGGCGGGGTTCTGCTCCAC
CTGCCCTCGGCGCGGACTGTGCCCTCGGCGGGCACGCGGACCGGCGGGGTAGGGCTAGGGCCCG
GCTTCTCTGGGCCAAGGATCAAGGTCCCTGCCTGGGTTAGGCCCCCACGCATTCCAGTCTTCGG
AACCCGGCCTCTGAAGAGGGCGCAGTAGGGCCCCAGCGGAGCGCGAGAACCCGCTCTACAGCCT
ATTGCTTCCCCGCCCTGGGCAGAGCCACCTGGACATGAGACCCGCCCTCAATGCCGAAGCCTCT
CGGAAGCAATCTTTCGGGACGGAAGTTAAGTAGCCCCGAGCGGGAGGCTGTGGCGGAAGTGGTC
GCGTTACCGCTTGTTTGTGCGCATGCGCCACTCTCGTCTGGCCGCCGCGCTTTCAGGAGGTGCT
TTTGGTTCTCTCCGGTCTTGTCCACGCTAGGGGGTGCACGTACTCCCAACTGTGGTCGCGCTCT
CACCCCTTCTGCTGCTCTCGTGGCCCCCTCGCGATGGCGGGCATCCTGTTTGAGGATATTTTCG
ATGTGAAGGATATTGACCCGGAGGGCAAGAAGTTTGACCGAGTGTCTCGACTGCATTGTGAGAG
TGAATCTTTCAAGATGGATCTAATCTTAGATGTAAACATTCAAATTTACCCTGTAGACTTGGGT
GACAAGTTTCGGTTGGTCATAGCTAGTACCTTGTATGAAGATGGTACCCTGGATGATGGTGAAT
ACAACCCCACTGATGATAGGCCTTCCAGCTCTGCGTACGTGTCCTATGGGGGCCTGCTCATGAG
GCTGCAGGGGGATGCCAACAACCTGCATGGATTCGAGGTGGACTCCAGAGTTTATCTCCTGATG
AAGAAGCTAGCCTTCTGAACCTCGCCTGAAGCCAGCCTCTCTGCCAAGTCACTCAGGTCATGGG
CATTGTTCAAGCCTGAGTGGCAGCCGCTCTTGCTCACCTGTTGAGGAAGGGCTGGCTCACTGTC
CACCGTGGCGGCATCTTTAACTGGCCTCCACTCAATGGGAAACTGACTCGCCTGTGAAAGACAC
AGTGGGAGAGCTGAAAATGAATCAGAAGCTTTATGTATATGATTTTTAAATTAAACTTTACTTT
TTCAGACTGCCCCTCCCCTTTTTGTAAAAAGTCCATTTACTGTAAAATCGTTTTTTCCAGTT

hide sequence

RefSeq Acc Id:

XM_047448341 ⟹ XP_047304297

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,361,710 - 184,368,591 (+)	NCBI

RefSeq Acc Id:

XM_047448342 ⟹ XP_047304298

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,362,606 - 184,368,591 (+)	NCBI

RefSeq Acc Id:

XM_047448343 ⟹ XP_047304299

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	184,362,606 - 184,368,591 (+)	NCBI

RefSeq Acc Id:

XM_054346911 ⟹ XP_054202886

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	187,170,978 - 187,177,848 (+)	NCBI

RefSeq Acc Id:

XM_054346912 ⟹ XP_054202887

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	187,170,978 - 187,177,848 (+)	NCBI

RefSeq Acc Id:

XM_054346913 ⟹ XP_054202888

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	187,170,978 - 187,177,848 (+)	NCBI

RefSeq Acc Id:

XM_054346914 ⟹ XP_054202889

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	187,171,874 - 187,177,848 (+)	NCBI

RefSeq Acc Id:

XM_054346915 ⟹ XP_054202890

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	187,171,874 - 187,177,848 (+)	NCBI

RefSeq Acc Id:

XM_054346916 ⟹ XP_054202891

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	187,170,978 - 187,177,848 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001265627	(Get FASTA)	NCBI Sequence Viewer
	NP_001265628	(Get FASTA)	NCBI Sequence Viewer
	NP_001265629	(Get FASTA)	NCBI Sequence Viewer
	NP_001265643	(Get FASTA)	NCBI Sequence Viewer
	NP_001265644	(Get FASTA)	NCBI Sequence Viewer
	NP_001333808	(Get FASTA)	NCBI Sequence Viewer
	NP_001376505	(Get FASTA)	NCBI Sequence Viewer
	NP_001376507	(Get FASTA)	NCBI Sequence Viewer
	NP_001376508	(Get FASTA)	NCBI Sequence Viewer
	NP_001376510	(Get FASTA)	NCBI Sequence Viewer
	NP_001376511	(Get FASTA)	NCBI Sequence Viewer
	NP_001376512	(Get FASTA)	NCBI Sequence Viewer
	NP_001376513	(Get FASTA)	NCBI Sequence Viewer
	NP_001376514	(Get FASTA)	NCBI Sequence Viewer
	NP_001376515	(Get FASTA)	NCBI Sequence Viewer
	NP_001376516	(Get FASTA)	NCBI Sequence Viewer
	NP_001376517	(Get FASTA)	NCBI Sequence Viewer
	NP_006223	(Get FASTA)	NCBI Sequence Viewer
	XP_006713729	(Get FASTA)	NCBI Sequence Viewer
	XP_006713730	(Get FASTA)	NCBI Sequence Viewer
	XP_016862125	(Get FASTA)	NCBI Sequence Viewer
	XP_047304297	(Get FASTA)	NCBI Sequence Viewer
	XP_047304298	(Get FASTA)	NCBI Sequence Viewer
	XP_047304299	(Get FASTA)	NCBI Sequence Viewer
	XP_054202886	(Get FASTA)	NCBI Sequence Viewer
	XP_054202887	(Get FASTA)	NCBI Sequence Viewer
	XP_054202888	(Get FASTA)	NCBI Sequence Viewer
	XP_054202889	(Get FASTA)	NCBI Sequence Viewer
	XP_054202890	(Get FASTA)	NCBI Sequence Viewer
	XP_054202891	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA91458	(Get FASTA)	NCBI Sequence Viewer
	AAH00739	(Get FASTA)	NCBI Sequence Viewer
	CAA89060	(Get FASTA)	NCBI Sequence Viewer
	CAB92189	(Get FASTA)	NCBI Sequence Viewer
	EAW78246	(Get FASTA)	NCBI Sequence Viewer
	EAW78247	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000392913
	ENSP00000392913.1
	ENSP00000393773
	ENSP00000393773.1
	ENSP00000398622
	ENSP00000398622.1
	ENSP00000399882
	ENSP00000399882.1
	ENSP00000403728.1
	ENSP00000409065
	ENSP00000409065.1
	ENSP00000411883
	ENSP00000411883.1
	ENSP00000415536
	ENSP00000415536.1
GenBank Protein	P52434	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_006223 ⟸ NM_006232
- Peptide Label:	isoform 2
- UniProtKB:	P53802 (UniProtKB/Swiss-Prot), C9JUA8 (UniProtKB/Swiss-Prot), C9JCU7 (UniProtKB/Swiss-Prot), C9JBJ6 (UniProtKB/Swiss-Prot), C9J413 (UniProtKB/Swiss-Prot), Q969R0 (UniProtKB/Swiss-Prot), P52434 (UniProtKB/Swiss-Prot), C9JLU1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAGILFEDIFDVKDIDPEGKKFDRVSRLHCESESFKMDLILDVNIQIYPVDLGDKFRLVIASTL YEDGTLDDGEYNPTDDRPSRADQFEYVMYGKVYRIEGDETSTEAATRLSAYVSYGGLLMRLQGD ANNLHGFEVDSRVYLLMKKLAF hide sequence

RefSeq Acc Id:	NP_001265629 ⟸ NM_001278700
- Peptide Label:	isoform 3
- UniProtKB:	P52434 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDLILDVNIQIYPVDLGDKFRLVIASTLYEDGTLDDGEYNPTDDRPSRADQFEYVMYGKVYRIE GDETSTEAATRLSAYVSYGGLLMRLQGDANNLHGFEVDSRVYLLMKKLAF hide sequence

RefSeq Acc Id:	NP_001265628 ⟸ NM_001278699
- Peptide Label:	isoform 3
- UniProtKB:	P52434 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDLILDVNIQIYPVDLGDKFRLVIASTLYEDGTLDDGEYNPTDDRPSRADQFEYVMYGKVYRIE GDETSTEAATRLSAYVSYGGLLMRLQGDANNLHGFEVDSRVYLLMKKLAF hide sequence

RefSeq Acc Id:	NP_001265644 ⟸ NM_001278715
- Peptide Label:	isoform 5
- UniProtKB:	P52434 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDLILDVNIQIYPVDLGDKFRLVIASTLYEDGTLDDGEYNPTDDRPSSSAYVSYGGLLMRLQGD ANNLHGFEVDSRVYLLMKKLAF hide sequence

RefSeq Acc Id:	NP_001265627 ⟸ NM_001278698
- Peptide Label:	isoform 1
- UniProtKB:	P52434 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAGILFEDIFDVKDIDPEGKKFDRVSRLHCESESFKMDLILDVNIQIYPVDLGDKFRLVIASTL YEDGTLDDGEYNPTDDRPSRADQFEYVMYGKVYRIEGDETSTEAATRLLRLRAAEWQCSRITGW GLLFQLCVRVLWGPAHEAAGGCQQPAWIRGGLQSLSPDEEASLLNLA hide sequence

RefSeq Acc Id:	NP_001265643 ⟸ NM_001278714
- Peptide Label:	isoform 4
- UniProtKB:	C9JLU1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAGILFEDIFDVKDIDPEGKKFDRVSRLHCESESFKMDLILDVNIQIYPVDLGDKFRLVIASTL YEDGTLDDGEYNPTDDRPSSSAYVSYGGLLMRLQGDANNLHGFEVDSRVYLLMKKLAF hide sequence

RefSeq Acc Id:	XP_006713729 ⟸ XM_006713666
- Peptide Label:	isoform X1
- UniProtKB:	P52434 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAGILFEDIFDVKDIDPEGKKFDRVSRLHCESESFKMDLILDVNIQIYPVDLGDKFRLVIASTL YEDGTLDDGEYNPTDDRPSRADQFEYVMYGKVYRIEGDETSTEAATRLLRLRAAEWQCSRITGW GLLFQLCVRVLWGPAHEAAGGCQQPAWIRGGLQSLSPDEEASLLNLA hide sequence

RefSeq Acc Id:	XP_006713730 ⟸ XM_006713667
- Peptide Label:	isoform X1
- UniProtKB:	P52434 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAGILFEDIFDVKDIDPEGKKFDRVSRLHCESESFKMDLILDVNIQIYPVDLGDKFRLVIASTL YEDGTLDDGEYNPTDDRPSRADQFEYVMYGKVYRIEGDETSTEAATRLLRLRAAEWQCSRITGW GLLFQLCVRVLWGPAHEAAGGCQQPAWIRGGLQSLSPDEEASLLNLA hide sequence

RefSeq Acc Id:	XP_016862125 ⟸ XM_017006636
- Peptide Label:	isoform X2
- UniProtKB:	C9JLU1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAGILFEDIFDVKDIDPEGKKFDRVSRLHCESESFKMDLILDVNIQIYPVDLGDKFRLVIASTL YEDGTLDDGEYNPTDDRPSSSAYVSYGGLLMRLQGDANNLHGFEVDSRVYLLMKKLAF hide sequence

RefSeq Acc Id:	NP_001333808 ⟸ NM_001346879
- Peptide Label:	isoform 6
- Sequence:	show sequence MDLILDVNIQIYPVDLGDKFRLVIASTLYEDGTLDDGEYNPTDDRPSRADQFEYVMYGKVYRIE GDETSTEAATRLLRLRAAEWQCSRITGWGLLFQLCVRVLWGPAHEAAGGCQQPAWIRGGLQSLS PDEEASLLNLA hide sequence

Ensembl Acc Id:

ENSP00000398622 ⟸ ENST00000438240

Ensembl Acc Id:

ENSP00000403728 ⟸ ENST00000412877

Ensembl Acc Id:

ENSP00000399882 ⟸ ENST00000452961

Ensembl Acc Id:

ENSP00000415536 ⟸ ENST00000429568

Ensembl Acc Id:

ENSP00000409065 ⟸ ENST00000455712

Ensembl Acc Id:

ENSP00000392913 ⟸ ENST00000456318

Ensembl Acc Id:

ENSP00000393773 ⟸ ENST00000443489

Ensembl Acc Id:

ENSP00000411883 ⟸ ENST00000430783

RefSeq Acc Id:	NP_001376514 ⟸ NM_001389585
- Peptide Label:	isoform 3

RefSeq Acc Id:	NP_001376507 ⟸ NM_001389578
- Peptide Label:	isoform 2
- UniProtKB:	P53802 (UniProtKB/Swiss-Prot), P52434 (UniProtKB/Swiss-Prot), C9JUA8 (UniProtKB/Swiss-Prot), C9JCU7 (UniProtKB/Swiss-Prot), C9JBJ6 (UniProtKB/Swiss-Prot), C9J413 (UniProtKB/Swiss-Prot), Q969R0 (UniProtKB/Swiss-Prot), C9JLU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001376505 ⟸ NM_001389576
- Peptide Label:	isoform 2
- UniProtKB:	P53802 (UniProtKB/Swiss-Prot), P52434 (UniProtKB/Swiss-Prot), C9JUA8 (UniProtKB/Swiss-Prot), C9JCU7 (UniProtKB/Swiss-Prot), C9JBJ6 (UniProtKB/Swiss-Prot), C9J413 (UniProtKB/Swiss-Prot), Q969R0 (UniProtKB/Swiss-Prot), C9JLU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001376510 ⟸ NM_001389581
- Peptide Label:	isoform 2
- UniProtKB:	P53802 (UniProtKB/Swiss-Prot), P52434 (UniProtKB/Swiss-Prot), C9JUA8 (UniProtKB/Swiss-Prot), C9JCU7 (UniProtKB/Swiss-Prot), C9JBJ6 (UniProtKB/Swiss-Prot), C9J413 (UniProtKB/Swiss-Prot), Q969R0 (UniProtKB/Swiss-Prot), C9JLU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001376508 ⟸ NM_001389579
- Peptide Label:	isoform 2
- UniProtKB:	P53802 (UniProtKB/Swiss-Prot), P52434 (UniProtKB/Swiss-Prot), C9JUA8 (UniProtKB/Swiss-Prot), C9JCU7 (UniProtKB/Swiss-Prot), C9JBJ6 (UniProtKB/Swiss-Prot), C9J413 (UniProtKB/Swiss-Prot), Q969R0 (UniProtKB/Swiss-Prot), C9JLU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001376515 ⟸ NM_001389586
- Peptide Label:	isoform 3

RefSeq Acc Id:	NP_001376511 ⟸ NM_001389582
- Peptide Label:	isoform 2
- UniProtKB:	P53802 (UniProtKB/Swiss-Prot), P52434 (UniProtKB/Swiss-Prot), C9JUA8 (UniProtKB/Swiss-Prot), C9JCU7 (UniProtKB/Swiss-Prot), C9JBJ6 (UniProtKB/Swiss-Prot), C9J413 (UniProtKB/Swiss-Prot), Q969R0 (UniProtKB/Swiss-Prot), C9JLU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001376517 ⟸ NM_001389588
- Peptide Label:	isoform 3

RefSeq Acc Id:	NP_001376512 ⟸ NM_001389583
- Peptide Label:	isoform 2
- UniProtKB:	P53802 (UniProtKB/Swiss-Prot), P52434 (UniProtKB/Swiss-Prot), C9JUA8 (UniProtKB/Swiss-Prot), C9JCU7 (UniProtKB/Swiss-Prot), C9JBJ6 (UniProtKB/Swiss-Prot), C9J413 (UniProtKB/Swiss-Prot), Q969R0 (UniProtKB/Swiss-Prot), C9JLU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001376513 ⟸ NM_001389584
- Peptide Label:	isoform 2
- UniProtKB:	P53802 (UniProtKB/Swiss-Prot), P52434 (UniProtKB/Swiss-Prot), C9JUA8 (UniProtKB/Swiss-Prot), C9JCU7 (UniProtKB/Swiss-Prot), C9JBJ6 (UniProtKB/Swiss-Prot), C9J413 (UniProtKB/Swiss-Prot), Q969R0 (UniProtKB/Swiss-Prot), C9JLU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001376516 ⟸ NM_001389587
- Peptide Label:	isoform 3

RefSeq Acc Id:	XP_047304297 ⟸ XM_047448341
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_047304298 ⟸ XM_047448342
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_047304299 ⟸ XM_047448343
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054202886 ⟸ XM_054346911
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054202891 ⟸ XM_054346916
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054202888 ⟸ XM_054346913
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054202887 ⟸ XM_054346912
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054202889 ⟸ XM_054346914
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054202890 ⟸ XM_054346915
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P52434-F1-model_v2	AlphaFold	P52434	1-150	view protein structure

Promoters

RGD ID:

6800770

Promoter ID:

HG_KWN:46982

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000344937, NM_001171088, NM_001171089, OTTHUMT00000345558, OTTHUMT00000345559, OTTHUMT00000345560, OTTHUMT00000345561, OTTHUMT00000345562, OTTHUMT00000345563, OTTHUMT00000345564, OTTHUMT00000345565, OTTHUMT00000345566, OTTHUMT00000345571, OTTHUMT00000345574, OTTHUMT00000345575, UC003FOK.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	185,561,981 - 185,563,877 (-)	MPROMDB

RGD ID:

6801436

Promoter ID:

HG_KWN:46983

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, NB4

Transcripts:

OTTHUMT00000345567, OTTHUMT00000345568, OTTHUMT00000345570

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	185,565,171 - 185,565,671 (+)	MPROMDB

RGD ID:

6801437

Promoter ID:

HG_KWN:46984

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, NB4

Transcripts:

OTTHUMT00000345569

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	185,566,621 - 185,567,372 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:9195	AgrOrtholog
COSMIC	POLR2H	COSMIC
Ensembl Genes	ENSG00000163882	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000412877.1	UniProtKB/TrEMBL
	ENST00000429568	ENTREZGENE
	ENST00000429568.1	UniProtKB/Swiss-Prot
	ENST00000430783	ENTREZGENE
	ENST00000430783.5	UniProtKB/Swiss-Prot
	ENST00000438240	ENTREZGENE
	ENST00000438240.5	UniProtKB/Swiss-Prot
	ENST00000443489	ENTREZGENE
	ENST00000443489.5	UniProtKB/Swiss-Prot
	ENST00000452961	ENTREZGENE
	ENST00000452961.5	UniProtKB/Swiss-Prot
	ENST00000455712	ENTREZGENE
	ENST00000455712.5	UniProtKB/TrEMBL
	ENST00000456318	ENTREZGENE
	ENST00000456318.6	UniProtKB/Swiss-Prot
Gene3D-CATH	2.40.50.140	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000163882	GTEx
HGNC ID	HGNC:9195	ENTREZGENE
Human Proteome Map	POLR2H	Human Proteome Map
InterPro	NA-bd_OB-fold	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RNA_pol_Rpb8	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:5437	UniProtKB/Swiss-Prot
NCBI Gene	5437	ENTREZGENE
OMIM	606023	OMIM
PANTHER	DNA-DIRECTED RNA POLYMERASES I, II, AND III SUBUNIT RPABC3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR10917	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	RNA_pol_Rpb8	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA33515	PharmGKB
PIRSF	RNA_pol_Rpb8	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	RPOL8c	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF50249	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	C9J413	ENTREZGENE
	C9JBJ6	ENTREZGENE
	C9JCU7	ENTREZGENE
	C9JJJ9_HUMAN	UniProtKB/TrEMBL
	C9JLU1	ENTREZGENE, UniProtKB/TrEMBL
	C9JUA8	ENTREZGENE
	P52434	ENTREZGENE
	P53802	ENTREZGENE
	Q969R0	ENTREZGENE
	RPAB3_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	C9J413	UniProtKB/Swiss-Prot
	C9JBJ6	UniProtKB/Swiss-Prot
	C9JCU7	UniProtKB/Swiss-Prot
	C9JUA8	UniProtKB/Swiss-Prot
	P53802	UniProtKB/Swiss-Prot
	Q969R0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-05-25	POLR2H	RNA polymerase II, I and III subunit H	POLR2H	RNA polymerase II subunit H	Symbol and/or name change	19259463	PROVISIONAL
2016-07-19	POLR2H	RNA polymerase II subunit H		polymerase (RNA) II subunit H	Symbol and/or name change	5135510	APPROVED
2016-03-07	POLR2H	polymerase (RNA) II subunit H		polymerase (RNA) II (DNA directed) polypeptide H	Symbol and/or name change	5135510	APPROVED

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

RGD Manual Annotations

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)