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Gene: NCAPD2 (non-SMC condensin I complex subunit D2) Homo sapiens

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Symbol:

NCAPD2

Name:

non-SMC condensin I complex subunit D2

RGD ID:

1604840

HGNC Page

HGNC:24305

Description:

Enables histone binding activity. Involved in mitotic chromosome condensation and positive regulation of chromosome condensation. Located in condensed chromosome; cytosol; and nuclear lumen. Part of condensin complex. Implicated in primary autosomal recessive microcephaly.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

CAP-D2; chromosome condensation related SMC associated protein 1; chromosome condensation-related SMC-associated protein 1; chromosome-associated protein D2; CNAP1; condensin complex subunit 1; hCAP-D2; KIAA0159; MCPH21; non-SMC condensin I complex, subunit D2; XCAP-D2 homolog

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Ncapd2 (non-SMC condensin I complex, subunit D2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Rattus norvegicus (Norway rat):	Ncapd2 (non-SMC condensin I complex, subunit D2)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther
Chinchilla lanigera (long-tailed chinchilla):	Ncapd2 (non-SMC condensin I complex subunit D2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	NCAPD2 (non-SMC condensin I complex subunit D2)	NCBI	Ortholog
Canis lupus familiaris (dog):	NCAPD2 (non-SMC condensin I complex subunit D2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ncapd2 (non-SMC condensin I complex subunit D2)	NCBI	Ortholog
Sus scrofa (pig):	NCAPD2 (non-SMC condensin I complex subunit D2)	HGNC	EggNOG, Ensembl, NCBI, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	NCAPD2 (non-SMC condensin I complex subunit D2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ncapd2 (non-SMC condensin I complex subunit D2)	NCBI	Ortholog
Alliance orthologs ³
Mus musculus (house mouse):	Ncapd2 (non-SMC condensin I complex, subunit D2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Ncapd2 (non-SMC condensin I complex, subunit D2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ncapd2 (non-SMC condensin I complex, subunit D2)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	dpy-28	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	Cap-D2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	YCS4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	ncapd2.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	ncapd2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

Related Pseudogenes:

NCAPD2P1

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	12	6,494,102 - 6,531,955 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	6,493,356 - 6,531,955 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	6,603,268 - 6,641,121 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	6,473,561 - 6,511,075 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	8,220,214 - 8,257,993 (+)	NCBI		Celera
Cytogenetic Map	12	p13.31	NCBI
HuRef	12	6,457,493 - 6,495,376 (+)	NCBI		HuRef
CHM1_1	12	6,602,311 - 6,640,139 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	6,504,453 - 6,542,311 (+)	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

genetic disease (IAGP)

Hyperphosphatemic Familial Tumoral Calcinosis 1 (IAGP)

lymphoproliferative syndrome 2 (IAGP)

peroxisome biogenesis disorder 2B (IAGP)

primary autosomal recessive microcephaly 21 (IAGP)

Temtamy syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1-dichloroethene (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP,ISO)

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

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

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

2,4-dibromophenyl 2,4,5-tribromophenyl ether (ISO)

2-hydroxypropanoic acid (EXP)

6-propyl-2-thiouracil (ISO)

acrolein (EXP)

acrylamide (EXP,ISO)

adefovir pivoxil (EXP)

all-trans-retinoic acid (EXP)

alpha-pinene (EXP)

amitrole (ISO)

arsenite(3-) (EXP,ISO)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

benzo[b]fluoranthene (ISO)

bis(2-chloroethyl) sulfide (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

cadmium atom (EXP)

cadmium dichloride (EXP,ISO)

caffeine (EXP)

calcitriol (EXP)

carbon nanotube (ISO)

chloroacetaldehyde (EXP)

chromium(6+) (EXP)

cidofovir anhydrous (EXP)

cisplatin (EXP,ISO)

cobalt dichloride (EXP)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

corticosterone (ISO)

coumarin (EXP)

coumestrol (EXP)

CU-O LINKAGE (EXP)

Cuprizon (ISO)

cyclosporin A (EXP,ISO)

DDE (EXP)

diallyl trisulfide (EXP)

dibenz[a,h]anthracene (ISO)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

dicrotophos (EXP)

dioxygen (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

enzyme inhibitor (EXP)

folic acid (ISO)

FR900359 (EXP)

genistein (EXP)

hexadecanoic acid (EXP)

ifosfamide (EXP)

isobutanol (EXP)

ivermectin (EXP)

leflunomide (EXP)

lipopolysaccharide (EXP)

metformin (ISO)

methapyrilene (ISO)

methimazole (ISO)

miconazole (ISO)

N(4)-hydroxycytidine (ISO)

naphthalene (ISO)

nickel atom (EXP)

oxaliplatin (ISO)

ozone (EXP,ISO)

palbociclib (EXP)

paracetamol (EXP,ISO)

PCB138 (ISO)

perfluorononanoic acid (EXP)

perfluorooctanoic acid (EXP,ISO)

phenobarbital (ISO)

phenylmercury acetate (EXP)

pirinixic acid (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

propanal (EXP)

rac-lactic acid (EXP)

resveratrol (EXP)

SB 431542 (EXP)

silicon dioxide (ISO)

sodium arsenite (EXP)

Soman (ISO)

sulfadimethoxine (ISO)

sunitinib (EXP)

tert-butyl hydroperoxide (EXP)

testosterone (EXP)

tetrachloromethane (ISO)

thiram (EXP)

titanium dioxide (ISO)

topotecan (ISO)

trichostatin A (EXP)

trimellitic anhydride (ISO)

triphenyl phosphate (EXP)

trovafloxacin (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell division (IEA)

chromosome condensation (IEA)

meiotic chromosome condensation (IBA)

mitotic cell cycle (IEA)

mitotic chromosome condensation (IBA,IDA,IEA,IMP,NAS)

positive regulation of chromosome condensation (IDA)

positive regulation of chromosome segregation (ISO)

positive regulation of chromosome separation (ISO)

Cellular Component

centriolar satellite (IDA)

chromosome (IEA)

ciliary basal body (IDA)

condensed chromosome (IDA)

condensed chromosome, centromeric region (IBA)

condensed nuclear chromosome (ISO)

condensin complex (IBA,IDA,NAS)

cytoplasm (IDA,IEA,NAS)

cytosol (IDA,TAS)

membrane (HDA)

nuclear chromosome (IDA)

nucleoplasm (IDA)

nucleus (IEA,NAS)

pronucleus (ISO)

Molecular Function

histone binding (IBA,IDA,NAS)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Absent speech (IAGP)

Autistic behavior (IAGP)

Autosomal recessive inheritance (IAGP)

Congenital onset (IAGP)

Intellectual disability, moderate (IAGP)

Primary microcephaly (IAGP)

Short stature (IAGP)

Sloping forehead (IAGP)

Small for gestational age (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8590280	PMID:10101332	PMID:10601332	PMID:10958694	PMID:11136719	PMID:12138188	PMID:12477932	PMID:14532007	PMID:14702039	PMID:15146197	PMID:15489334	PMID:16543152
PMID:16565220	PMID:16751776	PMID:16964243	PMID:17081983	PMID:17268547	PMID:18029348	PMID:18340469	PMID:19343720	PMID:19454010	PMID:19490893	PMID:19946888	PMID:20467437
PMID:20508983	PMID:20800603	PMID:21858164	PMID:21873635	PMID:22113938	PMID:22145905	PMID:22586326	PMID:22863883	PMID:22939629	PMID:22990118	PMID:23667531	PMID:24169447
PMID:24981860	PMID:25166511	PMID:25609649	PMID:25921289	PMID:26166704	PMID:26186194	PMID:26344197	PMID:26496610	PMID:26618866	PMID:26638075	PMID:26687479	PMID:26878753
PMID:27107012	PMID:27609421	PMID:27634302	PMID:27737959	PMID:28514442	PMID:28515276	PMID:28685749	PMID:29117863	PMID:29180619	PMID:29459360	PMID:29467282	PMID:29507755
PMID:29549164	PMID:29564676	PMID:29845934	PMID:29911972	PMID:30033366	PMID:30462309	PMID:30833792	PMID:30948266	PMID:31056748	PMID:31073040	PMID:31091453	PMID:31478661
PMID:31527615	PMID:31586073	PMID:31610177	PMID:31732153	PMID:31871319	PMID:31885422	PMID:31980649	PMID:31995728	PMID:32129710	PMID:32176739	PMID:32416067	PMID:32683582
PMID:32687490	PMID:32707033	PMID:32786267	PMID:32971831	PMID:33005030	PMID:33239621	PMID:33417871	PMID:33660365	PMID:33961781	PMID:34079125	PMID:34229059	PMID:34349018
PMID:34373451	PMID:34709727	PMID:34718347	PMID:35235311	PMID:35241646	PMID:35256949	PMID:35271311	PMID:35348268	PMID:35439318	PMID:35446349	PMID:35509820	PMID:35545034
PMID:35575683	PMID:35748872	PMID:35831314	PMID:35944360	PMID:36057605	PMID:36114006	PMID:36180527	PMID:36215168	PMID:36538041	PMID:36597993	PMID:36652389	PMID:36701707
PMID:36774506	PMID:37071682	PMID:37167062	PMID:37314216	PMID:37498296	PMID:37536630	PMID:37768083	PMID:37788672	PMID:37827155	PMID:37866880	PMID:38113892	PMID:38280479
PMID:39231216

Genomics

Comparative Map Data

NCAPD2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	6,494,102 - 6,531,955 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	6,493,356 - 6,531,955 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	6,603,268 - 6,641,121 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	6,473,561 - 6,511,075 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	8,220,214 - 8,257,993 (+)	NCBI		Celera
Cytogenetic Map	12	p13.31	NCBI
HuRef	12	6,457,493 - 6,495,376 (+)	NCBI		HuRef
CHM1_1	12	6,602,311 - 6,640,139 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	6,504,453 - 6,542,311 (+)	NCBI		T2T-CHM13v2.0

Ncapd2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	125,144,970 - 125,169,062 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	125,144,970 - 125,168,664 (-)	Ensembl		GRCm39 Ensembl
GRCm38	6	125,168,007 - 125,192,100 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	125,168,007 - 125,191,701 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	125,118,025 - 125,141,604 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	125,133,626 - 125,157,205 (-)	NCBI		MGSCv36	mm8
Celera	6	126,837,862 - 126,861,472 (-)	NCBI		Celera
Cytogenetic Map	6	F2- F3	NCBI
cM Map	6	59.32	NCBI

Ncapd2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	159,655,051 - 159,677,938 (-)	NCBI		GRCr8
mRatBN7.2	4	157,968,814 - 157,992,314 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	157,968,815 - 157,992,020 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	164,197,880 - 164,220,783 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	159,980,795 - 160,003,698 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	158,616,789 - 158,639,664 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	157,682,855 - 157,705,903 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	157,683,077 - 157,704,596 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	224,700,039 - 224,722,952 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	161,288,671 - 161,310,417 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	4	146,705,847 - 146,728,900 (-)	NCBI		Celera
Cytogenetic Map	4	q42	NCBI

Ncapd2
(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_004955413	4,137,216 - 4,160,550 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	4,136,492 - 4,160,550 (+)	NCBI	ChiLan1.0	ChiLan1.0

NCAPD2
(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	10	12,055,004 - 12,093,709 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	12,051,859 - 12,090,466 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	6,623,568 - 6,662,741 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	6,540,750 - 6,580,206 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	6,540,750 - 6,580,206 (+)	Ensembl	panpan1.1		panPan2

NCAPD2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	27	38,475,145 - 38,497,818 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	27	38,475,155 - 38,496,312 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	27	8,118,830 - 8,141,521 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	27	38,829,714 - 38,852,404 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	27	38,829,725 - 38,852,387 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	27	38,701,720 - 38,724,405 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	27	38,743,262 - 38,765,950 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	27	7,597,525 - 7,620,214 (+)	NCBI		UU_Cfam_GSD_1.0

Ncapd2
(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_024404945	102,582,878 - 102,608,249 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936709	1,250,495 - 1,275,769 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936709	1,250,442 - 1,275,823 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NCAPD2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	64,136,505 - 64,167,410 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	64,136,505 - 64,167,410 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	66,432,917 - 66,443,817 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NCAPD2
(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	11	6,534,243 - 6,566,515 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	6,535,282 - 6,566,546 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666063	1,659,905 - 1,692,279 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ncapd2
(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_004624860	3,230,577 - 3,256,407 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624860	3,229,091 - 3,256,631 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NCAPD2
174 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1	copy number loss	See cases [RCV000052776]	Chr12:121055..28415184 [GRCh38] Chr12:282465..28568117 [GRCh37] Chr12:100482..28459384 [NCBI36] Chr12:12p13.33-11.22	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	copy number gain	See cases [RCV000053660]	Chr12:77187..34380176 [GRCh38] Chr12:282465..34533111 [GRCh37] Chr12:56614..34424378 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	copy number gain	See cases [RCV000053662]	Chr12:80412..25470329 [GRCh38] Chr12:282465..25623263 [GRCh37] Chr12:59839..25514530 [NCBI36] Chr12:12p13.33-12.1	pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3	copy number gain	See cases [RCV000053663]	Chr12:121055..7272606 [GRCh38] Chr12:282465..7425202 [GRCh37] Chr12:100482..7316469 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]\|See cases [RCV000053664]	Chr12:121255..8361746 [GRCh38] Chr12:282465..8514342 [GRCh37] Chr12:100682..8405609 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	copy number gain	See cases [RCV000053666]	Chr12:212976..33926913 [GRCh38] Chr12:322142..34079848 [GRCh37] Chr12:192403..33971115 [NCBI36] Chr12:12p13.33-11.1	pathogenic
NM_014865.4(NCAPD2):c.1166C>T (p.Thr389Ile)	single nucleotide variant	Microcephaly 21, primary, autosomal recessive [RCV001331914]	Chr12:6517006 [GRCh38] Chr12:6626172 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3830A>T (p.Glu1277Val)	single nucleotide variant	Microcephaly 21, primary, autosomal recessive [RCV001331975]	Chr12:6529951 [GRCh38] Chr12:6639117 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	copy number gain	See cases [RCV000135350]	Chr12:45740..6945196 [GRCh38] Chr12:147099..7054359 [GRCh37] Chr12:17360..6924620 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	copy number gain	See cases [RCV000136611]	Chr12:121255..34603274 [GRCh38] Chr12:282465..34756209 [GRCh37] Chr12:100682..34647476 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	copy number gain	See cases [RCV000137694]	Chr12:2871741..14987348 [GRCh38] Chr12:2980907..15140282 [GRCh37] Chr12:2851168..15031549 [NCBI36] Chr12:12p13.33-12.3	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	copy number gain	See cases [RCV000139052]	Chr12:121271..34603261 [GRCh38] Chr12:282465..34756196 [GRCh37] Chr12:100698..34647463 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	copy number gain	See cases [RCV000139787]	Chr12:54427..34608071 [GRCh38] Chr12:282465..34761006 [GRCh37] Chr12:33854..34652273 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	copy number gain	See cases [RCV000141905]	Chr12:1258274..20657577 [GRCh38] Chr12:1367440..20810511 [GRCh37] Chr12:1237701..20701778 [NCBI36] Chr12:12p13.33-12.2	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	copy number gain	See cases [RCV000142149]	Chr12:64620..34682902 [GRCh38] Chr12:173786..34835837 [GRCh37] Chr12:44047..34727104 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	copy number gain	See cases [RCV000240164]	Chr12:148034..34178799 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	copy number gain	See cases [RCV000240487]	Chr12:89061..34178799 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_014865.4(NCAPD2):c.4120+2T>C	single nucleotide variant	Microcephaly 21, primary, autosomal recessive [RCV000627677]	Chr12:6531078 [GRCh38] Chr12:6640244 [GRCh37] Chr12:12p13.31	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3	copy number gain	See cases [RCV000449191]	Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3	copy number gain	See cases [RCV000449287]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	copy number gain	See cases [RCV000447551]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3	copy number gain	See cases [RCV000446050]	Chr12:173786..20026080 [GRCh37] Chr12:12p13.33-12.2	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3	copy number gain	See cases [RCV000446749]	Chr12:173786..8257049 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	copy number gain	See cases [RCV000446017]	Chr12:189578..34756150 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	copy number gain	See cases [RCV000511580]	Chr12:565369..34835837 [GRCh37] Chr12:12p13.33-11.1	likely pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	copy number gain	See cases [RCV000510853]	Chr12:173786..11677456 [GRCh37] Chr12:12p13.33-13.2	pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	copy number gain	See cases [RCV000510961]	Chr12:173786..28219229 [GRCh37] Chr12:12p13.33-11.22	pathogenic
NM_014865.4(NCAPD2):c.1130A>C (p.Asn377Thr)	single nucleotide variant	Inborn genetic diseases [RCV003258600]	Chr12:6516970 [GRCh38] Chr12:6626136 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.4184C>T (p.Ser1395Leu)	single nucleotide variant	Inborn genetic diseases [RCV003251418]	Chr12:6531390 [GRCh38] Chr12:6640556 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1073C>G (p.Ala358Gly)	single nucleotide variant	Inborn genetic diseases [RCV003292653]	Chr12:6516913 [GRCh38] Chr12:6626079 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1597A>G (p.Ile533Val)	single nucleotide variant	Inborn genetic diseases [RCV003257391]	Chr12:6520993 [GRCh38] Chr12:6630159 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1895G>A (p.Arg632Gln)	single nucleotide variant	Inborn genetic diseases [RCV003260451]	Chr12:6521978 [GRCh38] Chr12:6631144 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1166C>G (p.Thr389Ser)	single nucleotide variant	Inborn genetic diseases [RCV003266801]	Chr12:6517006 [GRCh38] Chr12:6626172 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.445-1G>T	single nucleotide variant	not provided [RCV000658633]	Chr12:6511109 [GRCh38] Chr12:6620275 [GRCh37] Chr12:12p13.31	likely pathogenic
NM_014865.4(NCAPD2):c.1954+1G>A	single nucleotide variant	Microcephaly 21, primary, autosomal recessive [RCV004768514]\|not provided [RCV000658634]	Chr12:6522038 [GRCh38] Chr12:6631204 [GRCh37] Chr12:12p13.31	likely pathogenic\|conflicting interpretations of pathogenicity
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	copy number gain	not provided [RCV000683479]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	copy number gain	not provided [RCV000683478]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	copy number gain	not provided [RCV000683480]	Chr12:173786..37869107 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	copy number gain	not provided [RCV000683477]	Chr12:191242..8122785 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3	copy number gain	not provided [RCV000750245]	Chr12:191619..31733044 [GRCh37] Chr12:12p13.33-11.21	pathogenic
NM_014865.4(NCAPD2):c.2647G>A (p.Glu883Lys)	single nucleotide variant	Inborn genetic diseases [RCV002533882]\|not provided [RCV000761815]	Chr12:6526528 [GRCh38] Chr12:6635694 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3454TTC[1] (p.Phe1153del)	microsatellite	not provided [RCV000761816]	Chr12:6528832..6528834 [GRCh38] Chr12:6637998..6638000 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.366T>C (p.Tyr122=)	single nucleotide variant	not provided [RCV000883751]	Chr12:6510732 [GRCh38] Chr12:6619898 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.1185+8A>G	single nucleotide variant	not provided [RCV000949559]	Chr12:6517033 [GRCh38] Chr12:6626199 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.4147G>A (p.Glu1383Lys)	single nucleotide variant	NCAPD2-related disorder [RCV003913316]\|not provided [RCV000950774]	Chr12:6531353 [GRCh38] Chr12:6640519 [GRCh37] Chr12:12p13.31	benign
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	copy number gain	not provided [RCV000767817]	Chr12:189216..15001420 [GRCh37] Chr12:12p13.33-12.3	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	copy number gain	not provided [RCV000767818]	Chr12:237588..8278292 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del	deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697]	Chr12:3750000..5250000 [GRCh38] Chr12:12p13.33-13.31	pathogenic\|not provided
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	copy number gain	not provided [RCV000767819]	Chr12:189216..8185497 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NM_014865.4(NCAPD2):c.3509T>C (p.Ile1170Thr)	single nucleotide variant	not provided [RCV000952977]	Chr12:6528976 [GRCh38] Chr12:6638142 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.1739A>G (p.Lys580Arg)	single nucleotide variant	NCAPD2-related disorder [RCV003972846]\|not provided [RCV000965882]	Chr12:6521822 [GRCh38] Chr12:6630988 [GRCh37] Chr12:12p13.31	benign\|likely benign
NM_014865.4(NCAPD2):c.1009G>A (p.Val337Met)	single nucleotide variant	not provided [RCV000923232]	Chr12:6516849 [GRCh38] Chr12:6626015 [GRCh37] Chr12:12p13.31	likely benign\|conflicting interpretations of pathogenicity
NM_014865.4(NCAPD2):c.3828T>G (p.Pro1276=)	single nucleotide variant	not provided [RCV000962238]	Chr12:6529949 [GRCh38] Chr12:6639115 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.2349-8T>C	single nucleotide variant	not provided [RCV000915812]	Chr12:6526060 [GRCh38] Chr12:6635226 [GRCh37] Chr12:12p13.31	likely benign
GRCh37/hg19 12p13.31(chr12:6070459-6737675)x3	copy number gain	not provided [RCV000848085]	Chr12:6070459..6737675 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	copy number gain	not provided [RCV000846343]	Chr12:173786..8393815 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NM_014865.4(NCAPD2):c.2854C>T (p.Arg952Cys)	single nucleotide variant	not provided [RCV000994830]	Chr12:6527010 [GRCh38] Chr12:6636176 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.31(chr12:6528194-6606738)x1	copy number loss	not provided [RCV001006480]	Chr12:6528194..6606738 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	copy number gain	not provided [RCV000847209]	Chr12:173786..34496628 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_014865.4(NCAPD2):c.2599T>C (p.Phe867Leu)	single nucleotide variant	not provided [RCV004786062]	Chr12:6526480 [GRCh38] Chr12:6635646 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3450G>C (p.Lys1150Asn)	single nucleotide variant	Inborn genetic diseases [RCV003268929]	Chr12:6528829 [GRCh38] Chr12:6637995 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.11:g.(?_4368352)_(9027607_?)dup	duplication	Lymphoproliferative syndrome 2 [RCV003105682]	Chr12:4368352..9027607 [GRCh37] Chr12:12p13.32-13.31	uncertain significance
NM_014865.4(NCAPD2):c.1490C>G (p.Pro497Arg)	single nucleotide variant	Inborn genetic diseases [RCV003250867]	Chr12:6517860 [GRCh38] Chr12:6627026 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3962C>G (p.Thr1321Ser)	single nucleotide variant	not provided [RCV001620410]	Chr12:6530815 [GRCh38] Chr12:6639981 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.2059C>T (p.Pro687Ser)	single nucleotide variant	Inborn genetic diseases [RCV003275599]	Chr12:6522932 [GRCh38] Chr12:6632098 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1278G>A (p.Gln426=)	single nucleotide variant	not provided [RCV000952976]	Chr12:6517457 [GRCh38] Chr12:6626623 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.3738T>C (p.Asn1246=)	single nucleotide variant	not provided [RCV000908096]	Chr12:6529859 [GRCh38] Chr12:6639025 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.3653G>T (p.Arg1218Leu)	single nucleotide variant	NCAPD2-related disorder [RCV003926267]\|not provided [RCV000965883]	Chr12:6529593 [GRCh38] Chr12:6638759 [GRCh37] Chr12:12p13.31	benign\|likely benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	copy number gain	not provided [RCV001006470]	Chr12:274676..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
NM_014865.4(NCAPD2):c.1920C>A (p.Ile640=)	single nucleotide variant	Microcephaly 21, primary, autosomal recessive [RCV001779271]\|not provided [RCV001638926]	Chr12:6522003 [GRCh38] Chr12:6631169 [GRCh37] Chr12:12p13.31	benign
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	copy number gain	not provided [RCV001537906]	Chr12:189145..7730395 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NC_000012.11:g.(?_6438458)_(7362839_?)dup	duplication	Peroxisome biogenesis disorder 2B [RCV001031288]	Chr12:6438458..7362839 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.31(chr12:6523329-6606738)x1	copy number loss	not provided [RCV001006479]	Chr12:6523329..6606738 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1526A>G (p.Asn509Ser)	single nucleotide variant	Microcephaly 21, primary, autosomal recessive [RCV001331915]	Chr12:6517896 [GRCh38] Chr12:6627062 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.11:g.(?_6438478)_(7362819_?)dup	duplication	Temtamy syndrome [RCV001365174]	Chr12:6438478..7362819 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3288T>C (p.His1096=)	single nucleotide variant	NCAPD2-related disorder [RCV003908516]\|not provided [RCV001310986]	Chr12:6528317 [GRCh38] Chr12:6637483 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.649C>T (p.Arg217Cys)	single nucleotide variant	not provided [RCV001726861]	Chr12:6514326 [GRCh38] Chr12:6623492 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2735-6C>T	single nucleotide variant	Inborn genetic diseases [RCV002538681]\|not provided [RCV001726862]	Chr12:6526885 [GRCh38] Chr12:6636051 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.127+27C>T	single nucleotide variant	Microcephaly 21, primary, autosomal recessive [RCV001779936]\|not provided [RCV004707710]	Chr12:6495252 [GRCh38] Chr12:6604418 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.3300T>C (p.Arg1100=)	single nucleotide variant	Microcephaly 21, primary, autosomal recessive [RCV001779939]\|not provided [RCV004709141]	Chr12:6528679 [GRCh38] Chr12:6637845 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.3573-13C>T	single nucleotide variant	Microcephaly 21, primary, autosomal recessive [RCV001779941]\|not provided [RCV004707713]	Chr12:6529500 [GRCh38] Chr12:6638666 [GRCh37] Chr12:12p13.31	benign
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	copy number gain	Obesity [RCV001801197]	Chr12:146240..8330229 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NM_014865.4(NCAPD2):c.247C>G (p.Gln83Glu)	single nucleotide variant	Microcephaly 21, primary, autosomal recessive [RCV001779937]\|not provided [RCV001847333]	Chr12:6510118 [GRCh38] Chr12:6619284 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.2566+30A>T	single nucleotide variant	Microcephaly 21, primary, autosomal recessive [RCV001779938]\|not provided [RCV004707711]	Chr12:6526401 [GRCh38] Chr12:6635567 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.3801A>G (p.Val1267=)	single nucleotide variant	Microcephaly 21, primary, autosomal recessive [RCV001779942]\|not provided [RCV004707714]	Chr12:6529922 [GRCh38] Chr12:6639088 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.3483C>T (p.Asn1161=)	single nucleotide variant	Microcephaly 21, primary, autosomal recessive [RCV001779940]\|not provided [RCV004707712]	Chr12:6528950 [GRCh38] Chr12:6638116 [GRCh37] Chr12:12p13.31	benign
NC_000012.11:g.(?_6438478)_(8248686_?)dup	duplication	Temtamy syndrome [RCV003120743]\|not provided [RCV001913769]	Chr12:6438478..8248686 [GRCh37] Chr12:12p13.31	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	copy number gain	not specified [RCV002052957]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NC_000012.11:g.(?_6438478)_(8756953_?)dup	duplication	not provided [RCV001970781]	Chr12:6438478..8756953 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.31(chr12:6530146-7376398)	copy number gain	not specified [RCV002052968]	Chr12:6530146..7376398 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	copy number gain	not specified [RCV002052955]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	copy number gain	not specified [RCV002052958]	Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
NM_014865.4(NCAPD2):c.2508del (p.Phe837fs)	deletion	Microcephaly 21, primary, autosomal recessive [RCV001825047]	Chr12:6526307 [GRCh38] Chr12:6635473 [GRCh37] Chr12:12p13.31	likely pathogenic
NC_000012.11:g.(?_6438478)_(9027607_?)dup	duplication	not provided [RCV001943267]	Chr12:6438478..9027607 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.211C>T (p.Arg71Ter)	single nucleotide variant	not provided [RCV002285877]	Chr12:6510082 [GRCh38] Chr12:6619248 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.839+7C>T	single nucleotide variant	not provided [RCV002275974]	Chr12:6514594 [GRCh38] Chr12:6623760 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.3532G>A (p.Glu1178Lys)	single nucleotide variant	not provided [RCV002286195]	Chr12:6528999 [GRCh38] Chr12:6638165 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3195G>A (p.Lys1065=)	single nucleotide variant	NCAPD2-related disorder [RCV003933723]\|not provided [RCV002262375]	Chr12:6528224 [GRCh38] Chr12:6637390 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.3964+2T>C	single nucleotide variant	not provided [RCV002293661]	Chr12:6530819 [GRCh38] Chr12:6639985 [GRCh37] Chr12:12p13.31	pathogenic
NM_014865.4(NCAPD2):c.3254G>A (p.Arg1085His)	single nucleotide variant	Inborn genetic diseases [RCV003285967]	Chr12:6528283 [GRCh38] Chr12:6637449 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2368G>A (p.Gly790Arg)	single nucleotide variant	Inborn genetic diseases [RCV003282293]	Chr12:6526087 [GRCh38] Chr12:6635253 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	copy number gain	not provided [RCV002472514]	Chr12:173787..8320544 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NM_014865.4(NCAPD2):c.4190G>A (p.Arg1397His)	single nucleotide variant	not provided [RCV002467004]	Chr12:6531396 [GRCh38] Chr12:6640562 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1612G>C (p.Glu538Gln)	single nucleotide variant	Inborn genetic diseases [RCV004067559]\|NCAPD2-related disorder [RCV003961054]\|not provided [RCV002467012]	Chr12:6521008 [GRCh38] Chr12:6630174 [GRCh37] Chr12:12p13.31	likely benign\|uncertain significance
NM_014865.4(NCAPD2):c.2223G>T (p.Glu741Asp)	single nucleotide variant	Inborn genetic diseases [RCV002682413]	Chr12:6525591 [GRCh38] Chr12:6634757 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2512C>T (p.Arg838Trp)	single nucleotide variant	Inborn genetic diseases [RCV002727373]	Chr12:6526317 [GRCh38] Chr12:6635483 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3531C>T (p.Pro1177=)	single nucleotide variant	NCAPD2-related disorder [RCV003973413]\|not provided [RCV002511723]	Chr12:6528998 [GRCh38] Chr12:6638164 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.4027C>T (p.Arg1343Cys)	single nucleotide variant	Inborn genetic diseases [RCV003012932]	Chr12:6530983 [GRCh38] Chr12:6640149 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1823C>A (p.Ser608Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002883518]	Chr12:6521906 [GRCh38] Chr12:6631072 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1342G>A (p.Gly448Arg)	single nucleotide variant	Inborn genetic diseases [RCV002865413]	Chr12:6517617 [GRCh38] Chr12:6626783 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1472A>G (p.Gln491Arg)	single nucleotide variant	Inborn genetic diseases [RCV002946593]	Chr12:6517842 [GRCh38] Chr12:6627008 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.-23-1G>A	single nucleotide variant	not provided [RCV002461619]	Chr12:6495075 [GRCh38] Chr12:6604241 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.4124T>C (p.Leu1375Pro)	single nucleotide variant	Inborn genetic diseases [RCV002817903]	Chr12:6531330 [GRCh38] Chr12:6640496 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1132T>G (p.Ser378Ala)	single nucleotide variant	Inborn genetic diseases [RCV002754201]	Chr12:6516972 [GRCh38] Chr12:6626138 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3654-5T>A	single nucleotide variant	Inborn genetic diseases [RCV002683221]	Chr12:6529770 [GRCh38] Chr12:6638936 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.790C>G (p.Leu264Val)	single nucleotide variant	Inborn genetic diseases [RCV002901037]	Chr12:6514538 [GRCh38] Chr12:6623704 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3559C>G (p.His1187Asp)	single nucleotide variant	Inborn genetic diseases [RCV002970075]	Chr12:6529026 [GRCh38] Chr12:6638192 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3775A>C (p.Ile1259Leu)	single nucleotide variant	Inborn genetic diseases [RCV002861153]	Chr12:6529896 [GRCh38] Chr12:6639062 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.564A>C (p.Ser188=)	single nucleotide variant	not provided [RCV002511722]	Chr12:6511229 [GRCh38] Chr12:6620395 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.8C>A (p.Pro3His)	single nucleotide variant	Inborn genetic diseases [RCV002688087]\|NCAPD2-related disorder [RCV003946357]	Chr12:6495106 [GRCh38] Chr12:6604272 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.1220C>G (p.Ala407Gly)	single nucleotide variant	Inborn genetic diseases [RCV002708186]	Chr12:6517399 [GRCh38] Chr12:6626565 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2468C>T (p.Ser823Leu)	single nucleotide variant	Inborn genetic diseases [RCV002799170]	Chr12:6526187 [GRCh38] Chr12:6635353 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2498G>A (p.Arg833His)	single nucleotide variant	Inborn genetic diseases [RCV002981515]	Chr12:6526303 [GRCh38] Chr12:6635469 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3253C>T (p.Arg1085Cys)	single nucleotide variant	Inborn genetic diseases [RCV002759952]	Chr12:6528282 [GRCh38] Chr12:6637448 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2363T>C (p.Ile788Thr)	single nucleotide variant	Inborn genetic diseases [RCV002949974]	Chr12:6526082 [GRCh38] Chr12:6635248 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.4134G>T (p.Glu1378Asp)	single nucleotide variant	Inborn genetic diseases [RCV002912319]	Chr12:6531340 [GRCh38] Chr12:6640506 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1032G>A (p.Met344Ile)	single nucleotide variant	Inborn genetic diseases [RCV002781577]	Chr12:6516872 [GRCh38] Chr12:6626038 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.4018C>T (p.Pro1340Ser)	single nucleotide variant	Inborn genetic diseases [RCV002707571]	Chr12:6530974 [GRCh38] Chr12:6640140 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3493A>G (p.Asn1165Asp)	single nucleotide variant	Inborn genetic diseases [RCV002784171]	Chr12:6528960 [GRCh38] Chr12:6638126 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3773C>A (p.Ser1258Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002739895]	Chr12:6529894 [GRCh38] Chr12:6639060 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.4040G>A (p.Arg1347His)	single nucleotide variant	Inborn genetic diseases [RCV002951931]	Chr12:6530996 [GRCh38] Chr12:6640162 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1384del (p.Ala462fs)	deletion	Inborn genetic diseases [RCV002763847]	Chr12:6517657 [GRCh38] Chr12:6626823 [GRCh37] Chr12:12p13.31	pathogenic
NM_014865.4(NCAPD2):c.3710A>G (p.Glu1237Gly)	single nucleotide variant	Inborn genetic diseases [RCV002742334]	Chr12:6529831 [GRCh38] Chr12:6638997 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2699A>G (p.Lys900Arg)	single nucleotide variant	Inborn genetic diseases [RCV002664448]	Chr12:6526580 [GRCh38] Chr12:6635746 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3917G>C (p.Gly1306Ala)	single nucleotide variant	Inborn genetic diseases [RCV002674125]	Chr12:6530770 [GRCh38] Chr12:6639936 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3392T>G (p.Val1131Gly)	single nucleotide variant	Inborn genetic diseases [RCV002812498]	Chr12:6528771 [GRCh38] Chr12:6637937 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.898T>A (p.Phe300Ile)	single nucleotide variant	Inborn genetic diseases [RCV002941139]	Chr12:6514831 [GRCh38] Chr12:6623997 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1216G>A (p.Val406Met)	single nucleotide variant	Inborn genetic diseases [RCV002648232]	Chr12:6517395 [GRCh38] Chr12:6626561 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3029C>G (p.Thr1010Arg)	single nucleotide variant	Inborn genetic diseases [RCV002768942]	Chr12:6527977 [GRCh38] Chr12:6637143 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3215G>A (p.Arg1072Gln)	single nucleotide variant	Inborn genetic diseases [RCV002832125]	Chr12:6528244 [GRCh38] Chr12:6637410 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2384C>T (p.Thr795Ile)	single nucleotide variant	Inborn genetic diseases [RCV002769739]	Chr12:6526103 [GRCh38] Chr12:6635269 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3424G>A (p.Glu1142Lys)	single nucleotide variant	Inborn genetic diseases [RCV002855537]	Chr12:6528803 [GRCh38] Chr12:6637969 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2482-6C>T	single nucleotide variant	Inborn genetic diseases [RCV002702718]	Chr12:6526281 [GRCh38] Chr12:6635447 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2006C>T (p.Pro669Leu)	single nucleotide variant	Inborn genetic diseases [RCV002959300]	Chr12:6522879 [GRCh38] Chr12:6632045 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2503C>A (p.Pro835Thr)	single nucleotide variant	Inborn genetic diseases [RCV002934770]	Chr12:6526308 [GRCh38] Chr12:6635474 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.4028G>A (p.Arg1343His)	single nucleotide variant	Inborn genetic diseases [RCV002769155]	Chr12:6530984 [GRCh38] Chr12:6640150 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1767G>A (p.Met589Ile)	single nucleotide variant	Inborn genetic diseases [RCV002812252]	Chr12:6521850 [GRCh38] Chr12:6631016 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2506C>T (p.Pro836Ser)	single nucleotide variant	Inborn genetic diseases [RCV002965709]	Chr12:6526311 [GRCh38] Chr12:6635477 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.4064G>A (p.Arg1355Gln)	single nucleotide variant	Inborn genetic diseases [RCV002656702]	Chr12:6531020 [GRCh38] Chr12:6640186 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1769T>G (p.Val590Gly)	single nucleotide variant	Inborn genetic diseases [RCV002678541]	Chr12:6521852 [GRCh38] Chr12:6631018 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.5C>G (p.Ala2Gly)	single nucleotide variant	Inborn genetic diseases [RCV002722491]\|NCAPD2-related disorder [RCV003936640]	Chr12:6495103 [GRCh38] Chr12:6604269 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.3964+5G>A	single nucleotide variant	Inborn genetic diseases [RCV002723120]	Chr12:6530822 [GRCh38] Chr12:6639988 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1406C>T (p.Ala469Val)	single nucleotide variant	not specified [RCV003155877]	Chr12:6517681 [GRCh38] Chr12:6626847 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	copy number gain	Pallister-Killian syndrome [RCV003154827]	Chr12:176047..34179852 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_014865.4(NCAPD2):c.2524G>A (p.Glu842Lys)	single nucleotide variant	Inborn genetic diseases [RCV003203203]	Chr12:6526329 [GRCh38] Chr12:6635495 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3716G>T (p.Gly1239Val)	single nucleotide variant	Inborn genetic diseases [RCV003204981]	Chr12:6529837 [GRCh38] Chr12:6639003 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.4012G>C (p.Val1338Leu)	single nucleotide variant	Inborn genetic diseases [RCV003213228]	Chr12:6530968 [GRCh38] Chr12:6640134 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2276G>A (p.Arg759Gln)	single nucleotide variant	Inborn genetic diseases [RCV003217677]	Chr12:6525644 [GRCh38] Chr12:6634810 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3812G>A (p.Arg1271Gln)	single nucleotide variant	Inborn genetic diseases [RCV003209935]	Chr12:6529933 [GRCh38] Chr12:6639099 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.4106A>G (p.Glu1369Gly)	single nucleotide variant	Inborn genetic diseases [RCV003175812]	Chr12:6531062 [GRCh38] Chr12:6640228 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3054_3057del (p.Leu1019fs)	deletion	Microcephaly 21, primary, autosomal recessive [RCV003140587]	Chr12:6527999..6528002 [GRCh38] Chr12:6637165..6637168 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3887G>A (p.Gly1296Asp)	single nucleotide variant	Inborn genetic diseases [RCV003194008]	Chr12:6530740 [GRCh38] Chr12:6639906 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1459A>G (p.Lys487Glu)	single nucleotide variant	Inborn genetic diseases [RCV003209897]	Chr12:6517829 [GRCh38] Chr12:6626995 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1787G>A (p.Cys596Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003309724]	Chr12:6521870 [GRCh38] Chr12:6631036 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.875G>A (p.Arg292Gln)	single nucleotide variant	Inborn genetic diseases [RCV003379130]	Chr12:6514808 [GRCh38] Chr12:6623974 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1234C>T (p.Arg412Cys)	single nucleotide variant	Inborn genetic diseases [RCV003346114]	Chr12:6517413 [GRCh38] Chr12:6626579 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3668A>C (p.Gln1223Pro)	single nucleotide variant	Inborn genetic diseases [RCV003369460]	Chr12:6529789 [GRCh38] Chr12:6638955 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1556G>A (p.Arg519His)	single nucleotide variant	Inborn genetic diseases [RCV003373954]	Chr12:6517926 [GRCh38] Chr12:6627092 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1661C>T (p.Pro554Leu)	single nucleotide variant	Inborn genetic diseases [RCV003365215]	Chr12:6521057 [GRCh38] Chr12:6630223 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.620A>G (p.Glu207Gly)	single nucleotide variant	Inborn genetic diseases [RCV003377194]	Chr12:6514297 [GRCh38] Chr12:6623463 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1912A>G (p.Ile638Val)	single nucleotide variant	Inborn genetic diseases [RCV003352205]	Chr12:6521995 [GRCh38] Chr12:6631161 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.388T>A (p.Ser130Thr)	single nucleotide variant	Inborn genetic diseases [RCV003367235]	Chr12:6510754 [GRCh38] Chr12:6619920 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2526A>T (p.Glu842Asp)	single nucleotide variant	Inborn genetic diseases [RCV003368618]	Chr12:6526331 [GRCh38] Chr12:6635497 [GRCh37] Chr12:12p13.31	uncertain significance
Single allele	duplication	not provided [RCV003448692]	Chr12:188053..34856694 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_014865.4(NCAPD2):c.189C>G (p.Ile63Met)	single nucleotide variant	not provided [RCV004777482]	Chr12:6509778 [GRCh38] Chr12:6618944 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1903A>C (p.Thr635Pro)	single nucleotide variant	NCAPD2-related disorder [RCV003906735]\|not provided [RCV003396143]	Chr12:6521986 [GRCh38] Chr12:6631152 [GRCh37] Chr12:12p13.31	benign\|likely benign
NM_014865.4(NCAPD2):c.1150_1151del (p.Val384fs)	microsatellite	not provided [RCV003442461]	Chr12:6516988..6516989 [GRCh38] Chr12:6626154..6626155 [GRCh37] Chr12:12p13.31	likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	copy number gain	not specified [RCV003986979]	Chr12:173786..34835641 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_014865.4(NCAPD2):c.1590-10G>A	single nucleotide variant	NCAPD2-related disorder [RCV003942100]	Chr12:6520976 [GRCh38] Chr12:6630142 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.243T>C (p.Thr81=)	single nucleotide variant	NCAPD2-related disorder [RCV003906775]	Chr12:6510114 [GRCh38] Chr12:6619280 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.1653T>C (p.His551=)	single nucleotide variant	NCAPD2-related disorder [RCV003927309]	Chr12:6521049 [GRCh38] Chr12:6630215 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.3336G>A (p.Ala1112=)	single nucleotide variant	NCAPD2-related disorder [RCV003964585]	Chr12:6528715 [GRCh38] Chr12:6637881 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.3654-6C>T	single nucleotide variant	NCAPD2-related disorder [RCV003951666]	Chr12:6529769 [GRCh38] Chr12:6638935 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.2682A>G (p.Ala894=)	single nucleotide variant	NCAPD2-related disorder [RCV003922261]	Chr12:6526563 [GRCh38] Chr12:6635729 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.2162C>G (p.Ser721Cys)	single nucleotide variant	NCAPD2-related disorder [RCV003951587]	Chr12:6523294 [GRCh38] Chr12:6632460 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.988-12TC[3]	microsatellite	NCAPD2-related disorder [RCV003958957]	Chr12:6516816..6516817 [GRCh38] Chr12:6625982..6625983 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.2507C>T (p.Pro836Leu)	single nucleotide variant	NCAPD2-related disorder [RCV003964400]	Chr12:6526312 [GRCh38] Chr12:6635478 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.1026G>A (p.Ala342=)	single nucleotide variant	NCAPD2-related disorder [RCV003924647]	Chr12:6516866 [GRCh38] Chr12:6626032 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.1344A>G (p.Gly448=)	single nucleotide variant	NCAPD2-related disorder [RCV003981551]	Chr12:6517619 [GRCh38] Chr12:6626785 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.1695C>A (p.Ile565=)	single nucleotide variant	NCAPD2-related disorder [RCV003907411]	Chr12:6521091 [GRCh38] Chr12:6630257 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.1901T>C (p.Ile634Thr)	single nucleotide variant	NCAPD2-related disorder [RCV003897345]	Chr12:6521984 [GRCh38] Chr12:6631150 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.2855G>A (p.Arg952His)	single nucleotide variant	Inborn genetic diseases [RCV004475641]	Chr12:6527011 [GRCh38] Chr12:6636177 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2988C>G (p.Ile996Met)	single nucleotide variant	Inborn genetic diseases [RCV004475646]	Chr12:6527857 [GRCh38] Chr12:6637023 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3169C>T (p.Arg1057Cys)	single nucleotide variant	Inborn genetic diseases [RCV004475658]	Chr12:6528198 [GRCh38] Chr12:6637364 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2299T>A (p.Cys767Ser)	single nucleotide variant	Inborn genetic diseases [RCV004475588]	Chr12:6525667 [GRCh38] Chr12:6634833 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.1503G>T (p.Glu501Asp)	single nucleotide variant	Inborn genetic diseases [RCV004475521]	Chr12:6517873 [GRCh38] Chr12:6627039 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2741C>T (p.Ser914Phe)	single nucleotide variant	Inborn genetic diseases [RCV004475625]	Chr12:6526897 [GRCh38] Chr12:6636063 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2852G>A (p.Arg951Gln)	single nucleotide variant	Inborn genetic diseases [RCV004475636]	Chr12:6527008 [GRCh38] Chr12:6636174 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2077G>A (p.Val693Met)	single nucleotide variant	Inborn genetic diseases [RCV004475580]	Chr12:6522950 [GRCh38] Chr12:6632116 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3170G>A (p.Arg1057His)	single nucleotide variant	Inborn genetic diseases [RCV004475663]	Chr12:6528199 [GRCh38] Chr12:6637365 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1802A>G (p.Asn601Ser)	single nucleotide variant	Inborn genetic diseases [RCV004475552]	Chr12:6521885 [GRCh38] Chr12:6631051 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.1808C>T (p.Ser603Leu)	single nucleotide variant	Inborn genetic diseases [RCV004475555]	Chr12:6521891 [GRCh38] Chr12:6631057 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.1826G>C (p.Arg609Thr)	single nucleotide variant	Inborn genetic diseases [RCV004475564]	Chr12:6521909 [GRCh38] Chr12:6631075 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.2771T>C (p.Met924Thr)	single nucleotide variant	Inborn genetic diseases [RCV004475630]	Chr12:6526927 [GRCh38] Chr12:6636093 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.4019C>T (p.Pro1340Leu)	single nucleotide variant	Inborn genetic diseases [RCV004475737]	Chr12:6530975 [GRCh38] Chr12:6640141 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1303A>G (p.Asn435Asp)	single nucleotide variant	Inborn genetic diseases [RCV004475506]	Chr12:6517482 [GRCh38] Chr12:6626648 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.131T>C (p.Phe44Ser)	single nucleotide variant	Inborn genetic diseases [RCV004475507]	Chr12:6509720 [GRCh38] Chr12:6618886 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1793A>T (p.Asn598Ile)	single nucleotide variant	Inborn genetic diseases [RCV004475549]\|not provided [RCV004759396]	Chr12:6521876 [GRCh38] Chr12:6631042 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3049C>G (p.Leu1017Val)	single nucleotide variant	Inborn genetic diseases [RCV004475653]	Chr12:6527997 [GRCh38] Chr12:6637163 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3518G>T (p.Arg1173Leu)	single nucleotide variant	Inborn genetic diseases [RCV004475690]	Chr12:6528985 [GRCh38] Chr12:6638151 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3561C>A (p.His1187Gln)	single nucleotide variant	Inborn genetic diseases [RCV004475696]	Chr12:6529028 [GRCh38] Chr12:6638194 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.377G>A (p.Arg126His)	single nucleotide variant	Inborn genetic diseases [RCV004475715]	Chr12:6510743 [GRCh38] Chr12:6619909 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3922G>A (p.Ala1308Thr)	single nucleotide variant	Inborn genetic diseases [RCV004475725]	Chr12:6530775 [GRCh38] Chr12:6639941 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3985G>T (p.Ala1329Ser)	single nucleotide variant	Inborn genetic diseases [RCV004475730]	Chr12:6530941 [GRCh38] Chr12:6640107 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.679C>T (p.Leu227Phe)	single nucleotide variant	Inborn genetic diseases [RCV004475774]	Chr12:6514356 [GRCh38] Chr12:6623522 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.841G>A (p.Glu281Lys)	single nucleotide variant	Inborn genetic diseases [RCV004475779]	Chr12:6514774 [GRCh38] Chr12:6623940 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3722G>A (p.Arg1241His)	single nucleotide variant	Inborn genetic diseases [RCV004641276]	Chr12:6529843 [GRCh38] Chr12:6639009 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.1747C>T (p.Arg583Trp)	single nucleotide variant	Inborn genetic diseases [RCV004652451]	Chr12:6521830 [GRCh38] Chr12:6630996 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.11:g.(?_6438478)_(6950528_?)dup	duplication	Lymphoproliferative syndrome 2 [RCV004578457]	Chr12:6438478..6950528 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1451C>T (p.Pro484Leu)	single nucleotide variant	not provided [RCV004590544]	Chr12:6517821 [GRCh38] Chr12:6626987 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2858G>A (p.Arg953Gln)	single nucleotide variant	Inborn genetic diseases [RCV004652457]	Chr12:6527014 [GRCh38] Chr12:6636180 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2710A>G (p.Lys904Glu)	single nucleotide variant	Inborn genetic diseases [RCV004641278]	Chr12:6526591 [GRCh38] Chr12:6635757 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3683A>C (p.Tyr1228Ser)	single nucleotide variant	not provided [RCV004697887]	Chr12:6529804 [GRCh38] Chr12:6638970 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.813G>A (p.Met271Ile)	single nucleotide variant	Inborn genetic diseases [RCV004652446]	Chr12:6514561 [GRCh38] Chr12:6623727 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1076G>A (p.Arg359Gln)	single nucleotide variant	Inborn genetic diseases [RCV004652447]	Chr12:6516916 [GRCh38] Chr12:6626082 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2732C>T (p.Pro911Leu)	single nucleotide variant	Inborn genetic diseases [RCV004652448]	Chr12:6526613 [GRCh38] Chr12:6635779 [GRCh37] Chr12:12p13.31	likely benign
NM_014865.4(NCAPD2):c.2850C>G (p.Cys950Trp)	single nucleotide variant	Inborn genetic diseases [RCV004652450]	Chr12:6527006 [GRCh38] Chr12:6636172 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.821T>C (p.Ile274Thr)	single nucleotide variant	Inborn genetic diseases [RCV004652452]	Chr12:6514569 [GRCh38] Chr12:6623735 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1854G>C (p.Glu618Asp)	single nucleotide variant	Inborn genetic diseases [RCV004652453]	Chr12:6521937 [GRCh38] Chr12:6631103 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1985T>A (p.Met662Lys)	single nucleotide variant	Inborn genetic diseases [RCV004652454]	Chr12:6522858 [GRCh38] Chr12:6632024 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1986G>T (p.Met662Ile)	single nucleotide variant	Inborn genetic diseases [RCV004652455]	Chr12:6522859 [GRCh38] Chr12:6632025 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3895G>A (p.Gly1299Arg)	single nucleotide variant	Inborn genetic diseases [RCV004652456]	Chr12:6530748 [GRCh38] Chr12:6639914 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3644G>A (p.Arg1215His)	single nucleotide variant	Inborn genetic diseases [RCV004641277]	Chr12:6529584 [GRCh38] Chr12:6638750 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.2283C>T (p.Thr761=)	single nucleotide variant	not provided [RCV004722484]	Chr12:6525651 [GRCh38] Chr12:6634817 [GRCh37] Chr12:12p13.31	benign
NM_014865.4(NCAPD2):c.2008C>T (p.Gln670Ter)	single nucleotide variant	not provided [RCV004729470]	Chr12:6522881 [GRCh38] Chr12:6632047 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1142G>A (p.Arg381Gln)	single nucleotide variant	not provided [RCV004777485]	Chr12:6516982 [GRCh38] Chr12:6626148 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.4004A>G (p.Asn1335Ser)	single nucleotide variant	not provided [RCV004769560]	Chr12:6530960 [GRCh38] Chr12:6640126 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.3065G>A (p.Cys1022Tyr)	single nucleotide variant	not provided [RCV004778145]	Chr12:6528013 [GRCh38] Chr12:6637179 [GRCh37] Chr12:12p13.31	uncertain significance
NM_014865.4(NCAPD2):c.1232G>C (p.Gly411Ala)	single nucleotide variant	not provided [RCV004760252]		uncertain significance
NM_014865.4(NCAPD2):c.3635A>C (p.Gln1212Pro)	single nucleotide variant	not provided [RCV004766357]	Chr12:6529575 [GRCh38] Chr12:6638741 [GRCh37] Chr12:12p13.31	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	4650
Count of miRNA genes:	1281
Interacting mature miRNAs:	1675
Transcripts:	ENST00000315579, ENST00000382457, ENST00000535804, ENST00000536090, ENST00000536538, ENST00000538600, ENST00000539084, ENST00000539714, ENST00000539885, ENST00000541399, ENST00000542472, ENST00000542492, ENST00000545732, ENST00000545962
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
597209945	GWAS1306019_H	blood protein measurement QTL GWAS1306019 (human)		1e-11	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	12	6496133	6496134	Human
597136310	GWAS1232384_H	bone density QTL GWAS1232384 (human)		7e-39	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	12	6522353	6522354	Human
406934557	GWAS583533_H	blood protein measurement QTL GWAS583533 (human)		6e-218	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	12	6512085	6512086	Human
597033625	GWAS1129699_H	blood protein measurement QTL GWAS1129699 (human)		0.0000001	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	12	6512085	6512086	Human

Markers in Region

RH25377

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	6,602,578 - 6,602,673	UniSTS	GRCh37
Build 36	12	6,472,839 - 6,472,934	RGD	NCBI36
Celera	12	8,219,494 - 8,219,589	RGD
Cytogenetic Map	12	p13.3-p13.1	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
HuRef	12	6,456,773 - 6,456,868	UniSTS

D12S924

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	6,636,086 - 6,636,261	UniSTS	GRCh37
Build 36	12	6,506,347 - 6,506,522	RGD	NCBI36
Celera	12	8,252,947 - 8,253,122	RGD
Cytogenetic Map	12	p13.3	UniSTS
HuRef	12	6,490,330 - 6,490,505	UniSTS

WI-21900

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	6,640,994 - 6,641,093	UniSTS	GRCh37
GRCh37	7	34,789,632 - 34,789,732	UniSTS	GRCh37
Build 36	7	34,756,157 - 34,756,257	RGD	NCBI36
Celera	12	8,257,855 - 8,257,954	UniSTS
Celera	7	34,770,506 - 34,770,606	RGD
Cytogenetic Map	22	q11.22	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	11	q12.2-q13.1	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
HuRef	12	6,495,238 - 6,495,337	UniSTS
HuRef	7	34,670,580 - 34,670,680	UniSTS
CRA_TCAGchr7v2	7	34,833,757 - 34,833,857	UniSTS
GeneMap99-GB4 RH Map	12	42.78	UniSTS
Whitehead-RH Map	12	73.2	UniSTS

D12S229

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	6,620,010 - 6,620,128	UniSTS	GRCh37
Build 36	12	6,490,271 - 6,490,389	RGD	NCBI36
Celera	12	8,236,870 - 8,236,988	RGD
Cytogenetic Map	12	p13.31	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
HuRef	12	6,474,144 - 6,474,262	UniSTS

G41276

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	6,611,331 - 6,611,453	UniSTS	GRCh37
Build 36	12	6,481,592 - 6,481,714	RGD	NCBI36
Celera	12	8,228,211 - 8,228,333	RGD
Cytogenetic Map	12	p13.3	UniSTS
HuRef	12	6,465,491 - 6,465,613	UniSTS

RH48486

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	12	p13.3	UniSTS
GeneMap99-GB4 RH Map	12	41.32	UniSTS
NCBI RH Map	12	94.1	UniSTS

D15S1477

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	4	q32-q35	UniSTS
Cytogenetic Map	5	q11	UniSTS
Cytogenetic Map	10	p12.1	UniSTS
Cytogenetic Map	10	p12.1-p11.2	UniSTS
Cytogenetic Map	15	q13	UniSTS
Cytogenetic Map	21	q21.3	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	1	q25	UniSTS
Cytogenetic Map	20	q13.3	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
Cytogenetic Map	12	q12	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	5	q14	UniSTS
Cytogenetic Map	3	q29	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	7	p21.3	UniSTS
Cytogenetic Map	1	q22	UniSTS
Cytogenetic Map	14	q32.33	UniSTS
Cytogenetic Map	14	q23.3	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	14	q31-q32	UniSTS
Cytogenetic Map	10	q25.2	UniSTS
Cytogenetic Map	16	p13.13-p13.12	UniSTS
Cytogenetic Map	3	q12.3	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	10	p15.3	UniSTS
Cytogenetic Map	2	p22.1	UniSTS
Cytogenetic Map	13	q13.1	UniSTS
Cytogenetic Map	5	q23.3	UniSTS
Cytogenetic Map	15	q21.1	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	3	p21.3	UniSTS
Cytogenetic Map	12	q24.13	UniSTS
Cytogenetic Map	4	q21.1	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	2	q37.3	UniSTS
Cytogenetic Map	2	p15	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	1	p31.3	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	10	q22	UniSTS
Cytogenetic Map	1	q41	UniSTS
Cytogenetic Map	9	q34.3	UniSTS
Cytogenetic Map	9	p13.3	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	10	q24.2	UniSTS
Cytogenetic Map	1	q42.11	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	2	p13.3	UniSTS
Cytogenetic Map	7	p22.1	UniSTS
Cytogenetic Map	11	q24	UniSTS
Cytogenetic Map	6	q16.2	UniSTS
Cytogenetic Map	2	q14	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	16	q24	UniSTS
Cytogenetic Map	X	q26.3	UniSTS
Cytogenetic Map	10	q23.1	UniSTS
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	7	q21.2	UniSTS
Cytogenetic Map	17	q22.2	UniSTS
Cytogenetic Map	8	q22.3	UniSTS
Cytogenetic Map	4	q25	UniSTS
Cytogenetic Map	11	q14.2	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	5	q23	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	13	q12.1	UniSTS
Cytogenetic Map	6	p21.32	UniSTS
Cytogenetic Map	2	q31	UniSTS
Cytogenetic Map	10	p14	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	3	p21.2	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	14	q12	UniSTS
Cytogenetic Map	8	p11.22	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	4	q28.2	UniSTS
Cytogenetic Map	1	p13.2	UniSTS
Cytogenetic Map	22	q12.3	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	16	p12.3	UniSTS
Cytogenetic Map	15	q22.31	UniSTS
Cytogenetic Map	2	q31.1	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	3	q21.3	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	11	p13	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	1	p35.3	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	4	p14	UniSTS
Cytogenetic Map	15	q11-q13	UniSTS
Cytogenetic Map	19	p	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	9	q22.3	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	8	q11.21	UniSTS
Cytogenetic Map	15	q15	UniSTS
Cytogenetic Map	15	q15.1	UniSTS
Cytogenetic Map	2	q22.3	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	5	q13.2	UniSTS
Cytogenetic Map	10	q23.2	UniSTS
Cytogenetic Map	7	p22.3	UniSTS
Cytogenetic Map	9	q34.13	UniSTS
Cytogenetic Map	1	q32	UniSTS
Cytogenetic Map	1	q31.3	UniSTS
Cytogenetic Map	4	q35	UniSTS
Cytogenetic Map	9	p13	UniSTS
Cytogenetic Map	3	p24.2	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	6	q25.2-q25.3	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	1	q42.3	UniSTS
Cytogenetic Map	7	q22.3	UniSTS
Cytogenetic Map	9	q34.2	UniSTS
Cytogenetic Map	17	q24	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	19	q13.3-q13.4	UniSTS
Cytogenetic Map	22	q11.23	UniSTS
Cytogenetic Map	3	q21	UniSTS
Cytogenetic Map	20	q13	UniSTS
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	14	q22.1	UniSTS
Cytogenetic Map	11	q23.1	UniSTS
Cytogenetic Map	17	q22-q23	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.3	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	7	p15.2	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	12	q23.1	UniSTS
Cytogenetic Map	16	q12.2	UniSTS
Cytogenetic Map	13	q11	UniSTS
Cytogenetic Map	X	p22.3	UniSTS
Cytogenetic Map	3	p25-p24	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	X	q22.1	UniSTS
Cytogenetic Map	X	p11.3	UniSTS
Cytogenetic Map	3	p12	UniSTS
Cytogenetic Map	1	q25.1	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	X	p11.2	UniSTS
Cytogenetic Map	11	q13.1-q13.2	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	5	p13.2	UniSTS
Cytogenetic Map	7	q21-q22	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	3	q26.2	UniSTS
Cytogenetic Map	20	q11.22	UniSTS
Cytogenetic Map	8	p22	UniSTS
Cytogenetic Map	4	q35.1	UniSTS
Cytogenetic Map	10	q23.31	UniSTS
Cytogenetic Map	6	p21.1-p12.2	UniSTS
Cytogenetic Map	12	q14.1	UniSTS
Cytogenetic Map	7	p11.2	UniSTS
Cytogenetic Map	11	p15.5	UniSTS
Cytogenetic Map	1	p35	UniSTS
Cytogenetic Map	12	q	UniSTS
Cytogenetic Map	1	q21.2	UniSTS
Cytogenetic Map	8	q23.1	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	14	q11.1	UniSTS
Cytogenetic Map	21	q22.11	UniSTS
Cytogenetic Map	3	p14.1	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	19	p13.3-p13.2	UniSTS
Cytogenetic Map	1	p36.11-p34.2	UniSTS
Cytogenetic Map	9	p22	UniSTS
Cytogenetic Map	1	q42.12	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	9	p22.1	UniSTS
Cytogenetic Map	11	q24.2	UniSTS
Cytogenetic Map	12	q15	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	8	q22.1	UniSTS
Cytogenetic Map	9	q21.13	UniSTS
Cytogenetic Map	11	p15.1	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	12	q21.1	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
Cytogenetic Map	3	p21	UniSTS
Cytogenetic Map	20	p11.23	UniSTS
Cytogenetic Map	15	q15.2	UniSTS
Cytogenetic Map	8	p21.1	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	18	q12.1	UniSTS
Cytogenetic Map	8	q12.1	UniSTS
Cytogenetic Map	14	q21.2	UniSTS
Cytogenetic Map	3	q27.1	UniSTS
Cytogenetic Map	3	p14.3	UniSTS
Cytogenetic Map	17	p13.1	UniSTS
Cytogenetic Map	6	p22.1	UniSTS
Cytogenetic Map	12	p13.2	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	15	q21.3	UniSTS
Cytogenetic Map	X	p11.22	UniSTS
Cytogenetic Map	12	p12	UniSTS
Cytogenetic Map	15	q15.3	UniSTS
Cytogenetic Map	18	q12.3	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	12	q11-q12	UniSTS
Cytogenetic Map	3	q13.33	UniSTS
Cytogenetic Map	11	q13.4	UniSTS
Cytogenetic Map	2	p24	UniSTS
Cytogenetic Map	8	q24.21	UniSTS
Cytogenetic Map	12	q22-q23.1	UniSTS
Cytogenetic Map	3	q26.33	UniSTS
Cytogenetic Map	5	q32	UniSTS
Cytogenetic Map	15	q21-q22	UniSTS
Cytogenetic Map	8	p21.2	UniSTS
Cytogenetic Map	10	q23	UniSTS
Cytogenetic Map	1	p22	UniSTS
Cytogenetic Map	16	p13.13	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	10	q24	UniSTS
Cytogenetic Map	8	q11.2	UniSTS
Cytogenetic Map	7	p14-p13	UniSTS
Cytogenetic Map	11	q22-q23	UniSTS
Cytogenetic Map	6	q22-q23	UniSTS
Cytogenetic Map	2	p16.1	UniSTS
Cytogenetic Map	15	q26.3	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	4	q21.22	UniSTS
Cytogenetic Map	1	q21.1	UniSTS
Cytogenetic Map	17	q21.33	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	16	p12.1	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	11	q24.3	UniSTS
Cytogenetic Map	11	q13.1-q13.3	UniSTS
Cytogenetic Map	14	q24.2	UniSTS
Cytogenetic Map	17	q23.3	UniSTS
Cytogenetic Map	2	q24	UniSTS
Cytogenetic Map	1	q23.3	UniSTS
Cytogenetic Map	10	q25	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	3	q25.33	UniSTS
Cytogenetic Map	2	p14	UniSTS
Cytogenetic Map	15	q21-q23	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	3	p22.1	UniSTS
Cytogenetic Map	19	q13.11	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	10	q26.3	UniSTS
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	2	p25.2	UniSTS
Cytogenetic Map	14	q23.1	UniSTS
Cytogenetic Map	1	p31.1	UniSTS
Cytogenetic Map	15	q14-q15	UniSTS
Cytogenetic Map	5	q31.1	UniSTS
Cytogenetic Map	1	p34	UniSTS
Cytogenetic Map	X	q22.3	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
Cytogenetic Map	6	p25.2	UniSTS
Cytogenetic Map	6	q25.1	UniSTS
Cytogenetic Map	12	p12.1	UniSTS
Cytogenetic Map	X	q25	UniSTS
Cytogenetic Map	14	q23.2	UniSTS
Cytogenetic Map	11	q12	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	5	q35	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	6	p23	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	4	p16.1	UniSTS
Cytogenetic Map	3	q25.31	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	17	q21.2	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	10	q24.31	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	1	p22.1	UniSTS
Cytogenetic Map	10	q22.2	UniSTS
Cytogenetic Map	6	q13	UniSTS
Cytogenetic Map	10	q21.3	UniSTS
Cytogenetic Map	17	p12	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	4	q31.1	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	18	q21.3	UniSTS
Cytogenetic Map	11	q21	UniSTS
Cytogenetic Map	5	q13	UniSTS
Cytogenetic Map	11	q23.2	UniSTS
Cytogenetic Map	8	q12	UniSTS
Cytogenetic Map	4	q28-q32	UniSTS
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	15	q21.2	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	9	q34	UniSTS
Cytogenetic Map	5	q12.3	UniSTS
Cytogenetic Map	12	q24.11	UniSTS
Cytogenetic Map	9	q21.12	UniSTS
Cytogenetic Map	9	q33.3	UniSTS
Cytogenetic Map	11	q22.3	UniSTS
Cytogenetic Map	20	p11.22-p11.1	UniSTS
Cytogenetic Map	10	q24.32	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	16	q23.1	UniSTS
Cytogenetic Map	13	q14.2	UniSTS
Cytogenetic Map	2	q24.3	UniSTS
Cytogenetic Map	8	p12	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	9	q31-q33	UniSTS
Cytogenetic Map	6	p24.1	UniSTS
Cytogenetic Map	10	p11.23	UniSTS
Cytogenetic Map	6	q15	UniSTS
Cytogenetic Map	5	q35.2	UniSTS
Cytogenetic Map	14	q32	UniSTS
Cytogenetic Map	3	q26.1-q26.2	UniSTS
Cytogenetic Map	5	q11.2-q13.2	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	X	p11.4	UniSTS
Cytogenetic Map	X	q13.3	UniSTS
Cytogenetic Map	8	q22.2	UniSTS
Cytogenetic Map	7	q11.21	UniSTS
Cytogenetic Map	5	q35.1	UniSTS
Cytogenetic Map	5	q33.1	UniSTS
Cytogenetic Map	4	q21.21	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
Cytogenetic Map	X	q13.1	UniSTS
Cytogenetic Map	X	q21.1	UniSTS
Cytogenetic Map	10	p11.21	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
Cytogenetic Map	5	q34	UniSTS
Cytogenetic Map	2	q36.1	UniSTS
Cytogenetic Map	12	p11.21	UniSTS
Cytogenetic Map	5	q33.3	UniSTS
Cytogenetic Map	16	q23.2	UniSTS
Cytogenetic Map	9	q31.3	UniSTS
Cytogenetic Map	15	q24	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	12	q21	UniSTS
Cytogenetic Map	8	p11.2	UniSTS
Cytogenetic Map	7	q22-q31	UniSTS
Cytogenetic Map	22	q12	UniSTS
Cytogenetic Map	4	q22	UniSTS
Cytogenetic Map	17	q21.32	UniSTS
Cytogenetic Map	12	q14	UniSTS
Cytogenetic Map	11	q23.1-q23.2	UniSTS
Cytogenetic Map	13	q14	UniSTS
Cytogenetic Map	13	q32.2	UniSTS
Cytogenetic Map	17	q	UniSTS
Cytogenetic Map	2	q33	UniSTS
Cytogenetic Map	7	q	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	10	q11.23	UniSTS
Cytogenetic Map	20	q13.12	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	13	q22.1	UniSTS
Cytogenetic Map	3	p25.2	UniSTS
Cytogenetic Map	5	q21.3	UniSTS
Cytogenetic Map	9	q22.2	UniSTS
Cytogenetic Map	3	p22.2	UniSTS
Cytogenetic Map	6	p24.2	UniSTS

D11S2560

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	10	p12.1-p11.2	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	20	q13.3	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	8	q21.13	UniSTS
Cytogenetic Map	18	p11.22	UniSTS
Cytogenetic Map	9	p13.3-p12	UniSTS
Cytogenetic Map	10	p12.1	UniSTS
Cytogenetic Map	19	q13.11	UniSTS
Cytogenetic Map	22	q11.23	UniSTS
Cytogenetic Map	5	q23.3	UniSTS
Cytogenetic Map	15	q21.1	UniSTS
Cytogenetic Map	14	q24.2	UniSTS
Cytogenetic Map	15	q13	UniSTS
Cytogenetic Map	6	q25.3	UniSTS
Cytogenetic Map	8	p22-p21	UniSTS
Cytogenetic Map	1	p34.1	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	15	q21.3	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	10	q24.2	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	6	q16.2	UniSTS
Cytogenetic Map	X	q26.3	UniSTS
Cytogenetic Map	9	q22.33	UniSTS
Cytogenetic Map	7	q21.2	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
Cytogenetic Map	4	q25	UniSTS
Cytogenetic Map	12	p13.33	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	5	q23	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	3	p21.2	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	1	p13.2	UniSTS
Cytogenetic Map	6	q27	UniSTS
Cytogenetic Map	2	p13.3	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	2	q12.1	UniSTS
Cytogenetic Map	9	q13-q21	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	2	p15	UniSTS
Cytogenetic Map	8	q11.21	UniSTS
Cytogenetic Map	15	q15	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	12	q23-q24.1	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	10	q23.2	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	9	q34.2	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	1	p32	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	7	p15.2	UniSTS
Cytogenetic Map	12	p13.2	UniSTS
Cytogenetic Map	16	q12.2	UniSTS
Cytogenetic Map	3	q26.2-q27	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	X	p11.2	UniSTS
Cytogenetic Map	20	q11.2	UniSTS
Cytogenetic Map	3	q26.2	UniSTS
Cytogenetic Map	4	q22.1	UniSTS
Cytogenetic Map	4	p15.32	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	10	p13	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	1	p36.11-p34.2	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	18	p11.32	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	8	q22.1	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	3	p21	UniSTS
Cytogenetic Map	14	q13.2	UniSTS
Cytogenetic Map	8	q12.1	UniSTS
Cytogenetic Map	3	p22.3	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	13	q12.11	UniSTS
Cytogenetic Map	12	p12	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	14	q31.1	UniSTS
Cytogenetic Map	21	q22.2	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	18	q12.3	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	2	p16.1	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	8	q24.21	UniSTS
Cytogenetic Map	12	q22-q23.1	UniSTS
Cytogenetic Map	3	q26.33	UniSTS
Cytogenetic Map	1	q23	UniSTS
Cytogenetic Map	11	p15.1	UniSTS
Cytogenetic Map	7	q32	UniSTS
Cytogenetic Map	11	p13	UniSTS
Cytogenetic Map	5	p13.1	UniSTS
Cytogenetic Map	18	q21	UniSTS
Cytogenetic Map	7	p14-p13	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	11	q22-q23	UniSTS
Cytogenetic Map	19	p13.3-p13.2	UniSTS
Cytogenetic Map	6	q22-q23	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	1	q21.1	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	11	q13.1-q13.3	UniSTS
Cytogenetic Map	1	q32	UniSTS
Cytogenetic Map	6	p24	UniSTS
Cytogenetic Map	10	q25	UniSTS
Cytogenetic Map	8	q22.3	UniSTS
Cytogenetic Map	2	p14	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	6	q13	UniSTS
Cytogenetic Map	2	p25.2	UniSTS
Cytogenetic Map	1	p31.1	UniSTS
Cytogenetic Map	15	q14-q15	UniSTS
Cytogenetic Map	9	q31.1	UniSTS
Cytogenetic Map	21	q22.11	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
Cytogenetic Map	5	q35.3	UniSTS
Cytogenetic Map	1	p36.32	UniSTS
Cytogenetic Map	15	q11.2	UniSTS
Cytogenetic Map	12	p12.1	UniSTS
Cytogenetic Map	X	q25	UniSTS
Cytogenetic Map	X	q28	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	8	p21.1	UniSTS
Cytogenetic Map	3	p26.1-p25.1	UniSTS
Cytogenetic Map	6	q16.3	UniSTS
Cytogenetic Map	3	q21.3	UniSTS
Cytogenetic Map	X	q27.1	UniSTS
Cytogenetic Map	3	q12.3	UniSTS
Cytogenetic Map	3	q25.31	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	11	q13.4	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	1	q42.3	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	12	q13.12	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	4	q31.1	UniSTS
Cytogenetic Map	14	q32.33	UniSTS
Cytogenetic Map	9	q33.2	UniSTS
Cytogenetic Map	5	q13	UniSTS
Cytogenetic Map	8	q12	UniSTS
Cytogenetic Map	15	q22.31	UniSTS
Cytogenetic Map	17	q24.3	UniSTS
Cytogenetic Map	5	q12.3	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	6	q21	UniSTS
Cytogenetic Map	10	q24.32	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	14	q32.32	UniSTS
Cytogenetic Map	16	p13.2	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	10	q11.22	UniSTS
Cytogenetic Map	1	p34	UniSTS
Cytogenetic Map	6	q14.1	UniSTS
Cytogenetic Map	14	q32	UniSTS
Cytogenetic Map	1	p36.3-p36.2	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	1	p32-p31	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	5	q33.1	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
Cytogenetic Map	10	q26.11	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
Cytogenetic Map	5	q34	UniSTS
Cytogenetic Map	2	q36.1	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	4	p16.1	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	15	q24	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	12	q21	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	1	p35-p34	UniSTS
Cytogenetic Map	9	q34.1	UniSTS
Cytogenetic Map	9	q22.2	UniSTS
Cytogenetic Map	X	p22	UniSTS
Cytogenetic Map	13	q14	UniSTS
Cytogenetic Map	2	q33	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	10	q11.23	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	3	p25.2	UniSTS
Cytogenetic Map	5	q11	UniSTS

RH93703

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	6,601,555 - 6,602,121	UniSTS	GRCh37
Celera	12	8,218,471 - 8,219,037	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	12	p13.3-p13.1	UniSTS
HuRef	12	6,455,750 - 6,456,316	UniSTS
GeneMap99-GB4 RH Map	12	39.88	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	2252	4973	1726	2351	6	624	1951	465	2269	7303	6469	53	3734	1	850	1742	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_014865	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC006064	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022511	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK125155	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK128354	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303310	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL548223	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC016913	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028182	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN307514	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D63880	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ573571	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000315579 ⟹ ENSP00000325017

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,494,102 - 6,531,955 (+)	Ensembl

Ensembl Acc Id:

ENST00000382457 ⟹ ENSP00000371895

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,494,093 - 6,528,091 (+)	Ensembl

Ensembl Acc Id:

ENST00000535804

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,528,547 - 6,529,171 (+)	Ensembl

Ensembl Acc Id:

ENST00000536090

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,517,359 - 6,518,203 (+)	Ensembl

Ensembl Acc Id:

ENST00000536538

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,493,401 - 6,495,165 (+)	Ensembl

Ensembl Acc Id:

ENST00000538600

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,521,920 - 6,523,314 (+)	Ensembl

Ensembl Acc Id:

ENST00000539084 ⟹ ENSP00000438495

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,494,099 - 6,531,476 (+)	Ensembl

Ensembl Acc Id:

ENST00000539714 ⟹ ENSP00000444377

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,493,387 - 6,510,720 (+)	Ensembl

Ensembl Acc Id:

ENST00000539885

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,529,260 - 6,530,730 (+)	Ensembl

Ensembl Acc Id:

ENST00000541399

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,493,356 - 6,511,192 (+)	Ensembl

Ensembl Acc Id:

ENST00000542472

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,517,793 - 6,521,933 (+)	Ensembl

Ensembl Acc Id:

ENST00000542492

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,523,200 - 6,528,067 (+)	Ensembl

Ensembl Acc Id:

ENST00000545732

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,511,225 - 6,516,871 (+)	Ensembl

RefSeq Acc Id:

NM_014865 ⟹ NP_055680

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,494,102 - 6,531,955 (+)	NCBI
GRCh37	12	6,602,547 - 6,641,132 (+)	NCBI
Build 36	12	6,473,561 - 6,511,075 (+)	NCBI Archive
Celera	12	8,220,214 - 8,257,993 (+)	RGD
HuRef	12	6,457,493 - 6,495,376 (+)	RGD
CHM1_1	12	6,602,311 - 6,640,139 (+)	NCBI
T2T-CHM13v2.0	12	6,504,453 - 6,542,311 (+)	NCBI

Sequence:

show sequence

CCTTTTCATTTCAGCCTGACTGCCGGAATCAGAGCCGCGGGTGAGATCCCCAGCCCTGTGAGCC
TGTAGGAGTAGAATGGCTCCCCAAATGTATGAGTTCCATCTGCCATTATCCCCAGAGGAGTTGT
TGAAAAGTGGAGGGGTGAATCAGTATGTTGTGCAAGAGGTACTGTCCATCAAACATCTTCCACC
ACAGCTTAGAGCTTTTCAGGCTGCCTTTCGAGCTCAGGGGCCCCTGGCTATGCTGCAGCACTTT
GATACTATCTACAGCATTTTGCATCACTTTCGAAGTATAGATCCTGGCCTCAAAGAAGATACTC
TGCAATTCCTGATAAAAGTGGTATCCCGCCACTCCCAGGAGCTTCCAGCTATCCTGGATGATAC
AACTTTGAGTGGATCAGATAGAAACGCCCATCTAAATGCCCTCAAAATGAACTGTTATGCTCTG
ATACGTCTCCTGGAATCCTTTGAGACCATGGCCAGCCAGACAAACCTTGTGGACCTGGACCTTG
GTGGGAAGGGTAAGAAAGCTCGGACCAAGGCAGCCCATGGCTTTGACTGGGAAGAAGAGAGGCA
ACCAATTCTTCAGCTTTTAACACAGCTACTTCAGTTGGACATCCGTCACCTGTGGAACCACTCA
ATAATTGAAGAAGAATTTGTCAGTTTGGTTACTGGCTGTTGCTACCGCCTTCTGGAGAATCCCA
CCATTAATCACCAGAAGAACCGCCCCACTCGGGAAGCCATAACACACCTGCTTGGTGTAGCCTT
GACCCGTTATAACCATATGCTCAGTGCTACAGTGAAGATCATCCAGATGCTGCAGCACTTTGAA
CACCTGGCACCTGTACTGGTTGCAGCCGTGAGTCTATGGGCAACTGACTATGGAATGAAGAGCA
TAGTGGGAGAGATTGTAAGAGAGATTGGACAAAAGTGTCCCCAAGAGCTGAGTCGAGACCCTTC
AGGGACAAAGGGCTTTGCAGCATTCCTGACAGAACTAGCAGAACGTGTCCCAGCTATCCTGATG
TCCAGCATGTGCATTTTGCTAGATCACCTGGATGGAGAAAATTACATGATGCGTAATGCTGTGC
TGGCAGCCATGGCGGAGATGGTGCTGCAGGTTCTCAGTGGCGATCAACTGGAAGCAGCAGCCCG
AGACACCAGAGACCAGTTCTTGGATACTTTACAAGCCCATGGCCATGATGTCAACTCCTTTGTG
CGGAGCCGTGTTTTGCAGCTCTTCACCCGAATTGTCCAGCAGAAGGCTCTCCCCCTGACACGTT
TCCAGGCAGTGGTGGCTTTAGCTGTGGGACGTCTGGCAGACAAGTCAGTGCTAGTATGTAAAAA
TGCCATCCAGCTGCTGGCCAGTTTTCTAGCCAATAATCCTTTCTCCTGCAAGCTTAGTGATGCT
GACCTTGCCGGACCACTGCAGAAGGAGACCCAGAAATTACAAGAGATGAGGGCCCAGAGGCGAA
CTGCAGCAGCTTCTGCAGTGCTGGACCCAGAGGAGGAGTGGGAAGCCATGCTGCCAGAGTTGAA
GTCTACCCTGCAGCAGCTTCTACAGCTTCCCCAGGGAGAGGAGGAGATTCCTGAGCAAATTGCC
AATACAGAGACAACTGAAGATGTGAAAGGACGCATCTATCAACTGCTTGCCAAAGCTAGTTACA
AAAAGGCCATCATTCTCACTCGAGAAGCCACAGGCCACTTCCAGGAGTCCGAACCCTTCAGTCA
TATAGACCCAGAGGAGTCAGAGGAGACCAGGCTCTTGAATATCTTAGGACTTATCTTCAAAGGC
CCAGCAGCTTCCACACAAGAAAAGAATCCCCGGGAGTCTACAGGAAACATGGTCACAGGACAGA
CTGTCTGTAAAAATAAACCCAATATGTCGGATCCTGAGGAATCCAGGGGAAATGATGAACTAGT
GAAGCAGGAGATGCTGGTACAGTATCTGCAGGATGCCTACAGCTTCTCCCGGAAGATTACAGAG
GCCATTGGCATCATCAGCAAGATGATGTATGAAAACACAACTACAGTGGTGCAGGAGGTGATTG
AATTCTTTGTGATGGTCTTCCAATTTGGGGTACCCCAGGCCCTGTTTGGGGTGCGCCGTATGCT
GCCTCTCATCTGGTCTAAGGAGCCTGGTGTCCGGGAAGCCGTGCTTAATGCCTACCGCCAACTC
TACCTCAACCCCAAAGGGGACTCTGCCAGAGCCAAGGCCCAGGCTTTGATTCAGAATCTCTCTC
TGCTGCTAGTGGATGCCTCGGTTGGGACCATTCAGTGTCTTGAGGAAATTCTCTGTGAGTTTGT
GCAGAAGGATGAGTTGAAACCAGCAGTGACCCAGCTGCTGTGGGAGCGGGCCACCGAGAAGGTC
GCCTGCTGTCCTCTGGAGCGCTGTTCCTCTGTCATGCTTCTTGGCATGATGGCACGAGGAAAGC
CAGAAATTGTGGGAAGCAATTTAGACACACTGGTGAGCATAGGGCTGGATGAGAAGTTTCCACA
GGACTACAGGCTGGCCCAGCAGGTGTGCCATGCCATTGCCAACATCTCGGACAGGAGAAAGCCT
TCTCTGGGCAAACGTCACCCCCCCTTCCGGCTGCCTCAGGAACACAGGTTGTTTGAGCGACTGC
GGGAGACAGTCACAAAAGGCTTTGTCCACCCAGACCCACTCTGGATCCCATTCAAAGAGGTGGC
AGTGACCCTCATTTACCAACTGGCAGAGGGCCCCGAAGTGATCTGTGCCCAGATATTGCAGGGC
TGTGCAAAACAGGCCCTGGAGAAGCTAGAAGAGAAGAGAACCAGTCAGGAGGACCCGAAGGAGT
CCCCCGCAATGCTCCCCACTTTCCTGTTGATGAACCTGCTGTCCCTGGCTGGGGATGTGGCTCT
GCAGCAGCTGGTCCACTTGGAGCAGGCAGTGAGTGGAGAGCTCTGCCGGCGCCGAGTTCTCCGG
GAAGAACAGGAGCACAAGACCAAAGATCCCAAGGAGAAGAATACGAGCTCTGAGACCACCATGG
AGGAGGAGCTGGGGCTGGTTGGGGCAACAGCAGATGACACAGAGGCAGAACTAATCCGTGGCAT
CTGCGAGATGGAACTGTTGGATGGCAAACAGACACTGGCTGCCTTTGTTCCACTCTTGCTTAAA
GTCTGTAACAACCCAGGCCTCTATAGCAACCCAGACCTCTCTGCAGCTGCTTCACTTGCCCTTG
GCAAGTTCTGCATGATCAGTGCCACTTTCTGCGACTCCCAGCTTCGTCTTCTGTTCACCATGCT
GGAAAAGTCTCCACTTCCCATTGTCCGGTCTAACCTCATGGTTGCCACTGGGGATCTGGCCATC
CGCTTTCCCAATCTGGTGGACCCCTGGACTCCTCATCTGTATGCTCGTCTCCGGGACCCTGCTC
AGCAAGTGCGGAAAACAGCGGGGCTGGTGATGACCCACCTGATCCTCAAGGACATGGTGAAGGT
GAAGGGGCAGGTCAGCGAGATGGCGGTGCTGCTCATCGACCCCGAGCCTCAGATTGCTGCCCTG
GCCAAGAACTTCTTCAATGAGCTCTCCCACAAGGGCAACGCAATCTATAATCTCCTTCCAGATA
TCATCAGCCGCCTGTCAGACCCCGAGCTGGGGGTGGAGGAAGAGCCTTTCCACACCATCATGAA
ACAGCTCCTCTCCTACATCACCAAGGACAAGCAGACAGAGAGCCTGGTGGAAAAGCTGTGTCAG
CGGTTCCGCACATCCCGAACTGAGCGGCAGCAGCGAGACCTGGCCTACTGTGTGTCACAGCTGC
CCCTCACAGAGCGAGGCCTCCGTAAGATGCTTGACAATTTTGACTGTTTTGGAGACAAACTGTC
AGATGAGTCCATCTTCAGTGCTTTTTTGTCAGTTGTAGGCAAGCTGCGACGTGGGGCCAAGCCT
GAGGGCAAGGCTATAATAGATGAATTTGAGCAGAAGCTTCGGGCCTGTCATACCAGAGGTTTGG
ATGGAATCAAGGAGCTTGAGATTGGCCAAGCAGGTAGCCAGAGAGCGCCATCAGCCAAGAAACC
ATCCACTGGTTCTAGGTACCAGCCTCTGGCTTCTACAGCCTCAGACAATGACTTTGTCACACCA
GAGCCCCGCCGTACTACCCGTCGGCATCCAAACACCCAGCAGCGAGCTTCCAAAAAGAAACCCA
AAGTTGTCTTCTCAAGTGATGAGTCCAGTGAGGAAGATCTTTCAGCAGAGATGACAGAAGACGA
GACACCCAAGAAAACAACTCCCATTCTCAGAGCATCGGCTCGCAGGCACAGATCCTAGGAAGTC
TGTTCCTGTCCTCCCTGTGCAGGGTATCCTGTAGGGTGACCTGGAATTCGAATTCTGTTTCCCT
TGTAAAATATTTGTCTGTCTCTTTTTTTTAAAAAAAAAAAAGGCCGGGCACTGTGGCTCACGCC
TGTAATCCCAGCACTTTGCGATACCAAGGCGGGTGGATAACCTGAGGTAGGGAGTTCGAGACCA
GCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAAAAAATTAGCCGGGCGTATTGGCG
TGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGAGGCGGA
GGTTGTAGTGAGCCGAAATCACACCATTGCACTCCAGCTTGGGCAACAATAGCGAACCTCCATC
TCAAATTAAAAAAAAAATGCCTACACGCTCTTTAAAATGCAAGGCTTTCTCTTAAATTAGCCTA
ACTGAACTGCGTTGAGCTGCTTCAACTTTGGAATATATGTTTGCCAATCTCCTTGTTTTCTAAT
GAATAAATGTTTTTATATACTTTTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_055680	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH16913	(Get FASTA)	NCBI Sequence Viewer
	AAH28182	(Get FASTA)	NCBI Sequence Viewer
	BAA09930	(Get FASTA)	NCBI Sequence Viewer
	BAC86066	(Get FASTA)	NCBI Sequence Viewer
	BAG51082	(Get FASTA)	NCBI Sequence Viewer
	BAG54665	(Get FASTA)	NCBI Sequence Viewer
	BAG64379	(Get FASTA)	NCBI Sequence Viewer
	EAW88788	(Get FASTA)	NCBI Sequence Viewer
	EAW88789	(Get FASTA)	NCBI Sequence Viewer
	EAW88790	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000325017
	ENSP00000325017.5
	ENSP00000371895.4
	ENSP00000438495.1
	ENSP00000444377.1
GenBank Protein	Q15021	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_055680 ⟸ NM_014865

- UniProtKB:

Q15021 (UniProtKB/Swiss-Prot), D3DUR4 (UniProtKB/Swiss-Prot), Q8N6U3 (UniProtKB/Swiss-Prot), B3KMS0 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAPQMYEFHLPLSPEELLKSGGVNQYVVQEVLSIKHLPPQLRAFQAAFRAQGPLAMLQHFDTIY
SILHHFRSIDPGLKEDTLQFLIKVVSRHSQELPAILDDTTLSGSDRNAHLNALKMNCYALIRLL
ESFETMASQTNLVDLDLGGKGKKARTKAAHGFDWEEERQPILQLLTQLLQLDIRHLWNHSIIEE
EFVSLVTGCCYRLLENPTINHQKNRPTREAITHLLGVALTRYNHMLSATVKIIQMLQHFEHLAP
VLVAAVSLWATDYGMKSIVGEIVREIGQKCPQELSRDPSGTKGFAAFLTELAERVPAILMSSMC
ILLDHLDGENYMMRNAVLAAMAEMVLQVLSGDQLEAAARDTRDQFLDTLQAHGHDVNSFVRSRV
LQLFTRIVQQKALPLTRFQAVVALAVGRLADKSVLVCKNAIQLLASFLANNPFSCKLSDADLAG
PLQKETQKLQEMRAQRRTAAASAVLDPEEEWEAMLPELKSTLQQLLQLPQGEEEIPEQIANTET
TEDVKGRIYQLLAKASYKKAIILTREATGHFQESEPFSHIDPEESEETRLLNILGLIFKGPAAS
TQEKNPRESTGNMVTGQTVCKNKPNMSDPEESRGNDELVKQEMLVQYLQDAYSFSRKITEAIGI
ISKMMYENTTTVVQEVIEFFVMVFQFGVPQALFGVRRMLPLIWSKEPGVREAVLNAYRQLYLNP
KGDSARAKAQALIQNLSLLLVDASVGTIQCLEEILCEFVQKDELKPAVTQLLWERATEKVACCP
LERCSSVMLLGMMARGKPEIVGSNLDTLVSIGLDEKFPQDYRLAQQVCHAIANISDRRKPSLGK
RHPPFRLPQEHRLFERLRETVTKGFVHPDPLWIPFKEVAVTLIYQLAEGPEVICAQILQGCAKQ
ALEKLEEKRTSQEDPKESPAMLPTFLLMNLLSLAGDVALQQLVHLEQAVSGELCRRRVLREEQE
HKTKDPKEKNTSSETTMEEELGLVGATADDTEAELIRGICEMELLDGKQTLAAFVPLLLKVCNN
PGLYSNPDLSAAASLALGKFCMISATFCDSQLRLLFTMLEKSPLPIVRSNLMVATGDLAIRFPN
LVDPWTPHLYARLRDPAQQVRKTAGLVMTHLILKDMVKVKGQVSEMAVLLIDPEPQIAALAKNF
FNELSHKGNAIYNLLPDIISRLSDPELGVEEEPFHTIMKQLLSYITKDKQTESLVEKLCQRFRT
SRTERQQRDLAYCVSQLPLTERGLRKMLDNFDCFGDKLSDESIFSAFLSVVGKLRRGAKPEGKA
IIDEFEQKLRACHTRGLDGIKELEIGQAGSQRAPSAKKPSTGSRYQPLASTASDNDFVTPEPRR
TTRRHPNTQQRASKKKPKVVFSSDESSEEDLSAEMTEDETPKKTTPILRASARRHRS

hide sequence

Ensembl Acc Id:

ENSP00000438495 ⟸ ENST00000539084

Ensembl Acc Id:

ENSP00000444377 ⟸ ENST00000539714

Ensembl Acc Id:

ENSP00000325017 ⟸ ENST00000315579

Ensembl Acc Id:

ENSP00000371895 ⟸ ENST00000382457

Protein Domains

Condensin complex subunit 1 C-terminal Condensin complex subunit 1 N-terminal

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q15021-F1-model_v2	AlphaFold	Q15021	1-1401	view protein structure

Promoters

RGD ID:

6790291

Promoter ID:

HG_KWN:14814

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:

ENST00000315579, ENST00000382457, NM_016497, UC001QON.1, UC009ZEN.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	6,472,556 - 6,473,947 (+)	MPROMDB

RGD ID:

7222871

Promoter ID:

EPDNEW_H17181

Type:

multiple initiation site

Name:

NCAPD2_1

Description:

non-SMC condensin I complex subunit D2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H17183

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,493,377 - 6,493,437	EPDNEW

RGD ID:

7222873

Promoter ID:

EPDNEW_H17183

Type:

initiation region

Name:

NCAPD2_2

Description:

non-SMC condensin I complex subunit D2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H17181

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,494,102 - 6,494,162	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24305	AgrOrtholog
COSMIC	NCAPD2	COSMIC
Ensembl Genes	ENSG00000010292	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000315579	ENTREZGENE
	ENST00000315579.10	UniProtKB/Swiss-Prot
	ENST00000382457.8	UniProtKB/TrEMBL
	ENST00000539084.5	UniProtKB/TrEMBL
	ENST00000539714.5	UniProtKB/TrEMBL
Gene3D-CATH	1.25.10.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000010292	GTEx
HGNC ID	HGNC:24305	ENTREZGENE
Human Proteome Map	NCAPD2	Human Proteome Map
InterPro	ARM-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ARM-type_fold	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	CND1/NCAPD3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Cnd1_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Condensin_cplx_su1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Condensin_cplx_su1_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:9918	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	9918	ENTREZGENE
OMIM	615638	OMIM
PANTHER	PTHR14222	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR14222:SF2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Cnd1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Cnd1_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162397021	PharmGKB
PIRSF	Condensin_D2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF48371	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0PJ76_HUMAN	UniProtKB/TrEMBL
	B3KMS0	ENTREZGENE, UniProtKB/TrEMBL
	B3KY03_HUMAN	UniProtKB/TrEMBL
	CND1_HUMAN	UniProtKB/Swiss-Prot
	D3DUR4	ENTREZGENE
	E7EN77_HUMAN	UniProtKB/TrEMBL
	F5GZK7_HUMAN	UniProtKB/TrEMBL
	F5H431_HUMAN	UniProtKB/TrEMBL
	Q15021	ENTREZGENE
	Q8N6U3	ENTREZGENE
UniProt Secondary	D3DUR4	UniProtKB/Swiss-Prot
	Q8N6U3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-08	NCAPD2	non-SMC condensin I complex subunit D2		non-SMC condensin I complex, subunit D2	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)

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Imported Human Phenotype Annotations - HPO

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

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