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Gene: TBC1D22A (TBC1 domain family member 22A) Homo sapiens

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Symbol:

TBC1D22A

Name:

TBC1 domain family member 22A

RGD ID:

1602007

HGNC Page

HGNC:1309

Description:

Enables 14-3-3 protein binding activity and protein homodimerization activity. Predicted to be active in Golgi apparatus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C22orf4; HSC79E021; putative GTPase activator; TBC1 domain family, member 22A

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):	Tbc1d22a (TBC1 domain family, member 22a)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tbc1d22a (TBC1 domain family, member 22a)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Tbc1d22a (TBC1 domain family member 22A)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TBC1D22A (TBC1 domain family member 22A)	NCBI	Ortholog
Canis lupus familiaris (dog):	TBC1D22A (TBC1 domain family member 22A)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tbc1d22a (TBC1 domain family member 22A)	NCBI	Ortholog
Sus scrofa (pig):	TBC1D22A (TBC1 domain family member 22A)	HGNC	Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TBC1D22A (TBC1 domain family member 22A)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tbc1d22a (TBC1 domain family member 22A)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Tbc1d22b (TBC1 domain family, member 22B)	HGNC	OrthoDB, OrthoMCL
Rattus norvegicus (Norway rat):	Tbc1d22b (TBC1 domain family, member 22B)	HGNC	OrthoDB
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tbc1d22a (TBC1 domain family, member 22a)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tbc1d22a (TBC1 domain family, member 22a)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tbc1d22a (TBC1 domain family, member 22a)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	GYP1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG5745	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	tbc-3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	tbc1d22a	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)

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	22	46,762,650 - 47,175,699 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	46,762,617 - 47,175,699 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	47,158,547 - 47,571,342 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	45,537,213 - 45,948,390 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	22	31,074,220 - 31,486,114 (+)	NCBI		Celera
Cytogenetic Map	22	q13.31	NCBI
HuRef	22	30,103,503 - 30,516,056 (+)	NCBI		HuRef
CHM1_1	22	47,117,886 - 47,530,004 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	47,250,621 - 47,665,617 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBC1D22A	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
TBC1D22A	Human	Phelan-McDermid syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Phelan-McDermid syndrome	ClinVar

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBC1D22A	Human	1,2-dimethylhydrazine	decreases expression	ISO	Tbc1d22a (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of TBC1D22A mRNA	CTD	PMID:22206623
TBC1D22A	Human	2,2',4,4'-Tetrabromodiphenyl ether	increases expression	EXP		6480464	2 more ...	CTD	PMID:19095052
TBC1D22A	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Tbc1d22a (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of TBC1D22A mRNA	CTD	PMID:21570461
TBC1D22A	Human	2,3,7,8-Tetrachlorodibenzofuran	decreases expression	ISO	Tbc1d22a (Rattus norvegicus)	6480464	2 more ...	CTD	PMID:32109520
TBC1D22A	Human	3,4-methylenedioxymethamphetamine	increases expression	ISO	Tbc1d22a (Mus musculus)	6480464	N-Methyl-3 and 4-methylenedioxyamphetamine results in increased expression of TBC1D22A mRNA	CTD	PMID:20188158
TBC1D22A	Human	aflatoxin B1	affects expression	EXP		6480464	Aflatoxin B1 affects the expression of TBC1D22A protein	CTD	PMID:20106945
TBC1D22A	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of TBC1D22A polyA tail	CTD	PMID:30157460
TBC1D22A	Human	aflatoxin B1	increases methylation	EXP		6480464	Aflatoxin B1 results in increased methylation of TBC1D22A intron	CTD	PMID:30157460
TBC1D22A	Human	aflatoxin B1	decreases expression	EXP		6480464	Aflatoxin B1 results in decreased expression of TBC1D22A mRNA	CTD	PMID:21641981 and PMID:22100608
TBC1D22A	Human	Aflatoxin B2 alpha	affects methylation	EXP		6480464	aflatoxin B2 affects the methylation of TBC1D22A intron	CTD	PMID:30157460
TBC1D22A	Human	antirheumatic drug	decreases expression	EXP		6480464	Antirheumatic Agents results in decreased expression of TBC1D22A mRNA	CTD	PMID:24449571
TBC1D22A	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of TBC1D22A mRNA	CTD	PMID:33212167
TBC1D22A	Human	arsane	affects methylation	EXP		6480464	Arsenic affects the methylation of TBC1D22A gene	CTD	PMID:25304211
TBC1D22A	Human	arsenic atom	affects methylation	EXP		6480464	Arsenic affects the methylation of TBC1D22A gene	CTD	PMID:25304211
TBC1D22A	Human	atrazine	affects methylation	ISO	Tbc1d22a (Rattus norvegicus)	6480464	Atrazine affects the methylation of TBC1D22A gene	CTD	PMID:28931070 and PMID:35440735
TBC1D22A	Human	benzo[a]pyrene	decreases expression	ISO	Tbc1d22a (Mus musculus)	6480464	Benzo(a)pyrene results in decreased expression of TBC1D22A mRNA	CTD	PMID:19770486
TBC1D22A	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of TBC1D22A intron	CTD	PMID:30157460
TBC1D22A	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of TBC1D22A mRNA	CTD	PMID:20064835 more ...
TBC1D22A	Human	benzo[a]pyrene diol epoxide I	decreases expression	EXP		6480464	7 more ...	CTD	PMID:26238291
TBC1D22A	Human	benzo[e]pyrene	affects methylation	EXP		6480464	benzo(e)pyrene affects the methylation of TBC1D22A intron	CTD	PMID:30157460
TBC1D22A	Human	bisphenol A	decreases expression	ISO	Tbc1d22a (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of TBC1D22A mRNA	CTD	PMID:25181051
TBC1D22A	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of TBC1D22A mRNA	CTD	PMID:36232920
TBC1D22A	Human	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in increased methylation of TBC1D22A gene	CTD	PMID:31601247
TBC1D22A	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of TBC1D22A gene	CTD	PMID:31601247
TBC1D22A	Human	bisphenol A	increases expression	ISO	Tbc1d22a (Mus musculus)	6480464	bisphenol A results in increased expression of TBC1D22A mRNA	CTD	PMID:33221593
TBC1D22A	Human	caffeine	decreases phosphorylation	EXP		6480464	Caffeine results in decreased phosphorylation of TBC1D22A protein	CTD	PMID:35688186
TBC1D22A	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to TBC1D22A gene]	CTD	PMID:28238834
TBC1D22A	Human	chlorpyrifos	increases expression	ISO	Tbc1d22a (Mus musculus)	6480464	Chlorpyrifos results in increased expression of TBC1D22A mRNA	CTD	PMID:37019170
TBC1D22A	Human	chromium(6+)	multiple interactions	EXP		6480464	[zinc chromate results in increased abundance of chromium hexavalent ion] which results in decreased expression of TBC1D22A mRNA	CTD	PMID:38479592
TBC1D22A	Human	cisplatin	decreases expression	EXP		6480464	Cisplatin results in decreased expression of TBC1D22A mRNA	CTD	PMID:19561079
TBC1D22A	Human	clofibrate	decreases expression	ISO	Tbc1d22a (Mus musculus)	6480464	Clofibrate results in decreased expression of TBC1D22A mRNA	CTD	PMID:23811191
TBC1D22A	Human	coumarin	decreases phosphorylation	EXP		6480464	coumarin results in decreased phosphorylation of TBC1D22A protein	CTD	PMID:35688186
TBC1D22A	Human	crocidolite asbestos	decreases expression	ISO	Tbc1d22a (Mus musculus)	6480464	Asbestos and Crocidolite results in decreased expression of TBC1D22A mRNA	CTD	PMID:29279043
TBC1D22A	Human	doxorubicin	affects expression	EXP		6480464	Doxorubicin affects the expression of TBC1D22A mRNA	CTD	PMID:29803840
TBC1D22A	Human	ethanol	affects splicing	ISO	Tbc1d22a (Mus musculus)	6480464	Ethanol affects the splicing of TBC1D22A mRNA	CTD	PMID:30319688
TBC1D22A	Human	fenthion	decreases expression	ISO	Tbc1d22a (Mus musculus)	6480464	Fenthion results in decreased expression of TBC1D22A mRNA	CTD	PMID:34813904
TBC1D22A	Human	formaldehyde	decreases expression	EXP		6480464	Formaldehyde results in decreased expression of TBC1D22A mRNA	CTD	PMID:23649840
TBC1D22A	Human	FR900359	decreases phosphorylation	EXP		6480464	FR900359 results in decreased phosphorylation of TBC1D22A protein	CTD	PMID:37730182
TBC1D22A	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in increased methylation of TBC1D22A gene	CTD	PMID:31601247
TBC1D22A	Human	glyphosate	affects methylation	ISO	Tbc1d22a (Rattus norvegicus)	6480464	Glyphosate affects the methylation of TBC1D22A gene	CTD	PMID:35440735
TBC1D22A	Human	glyphosate	increases methylation	ISO	Tbc1d22a (Rattus norvegicus)	6480464	Glyphosate results in increased methylation of TBC1D22A gene	CTD	PMID:31011160
TBC1D22A	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of TBC1D22A protein	CTD	PMID:32959892
TBC1D22A	Human	methapyrilene	affects methylation	EXP		6480464	Methapyrilene affects the methylation of TBC1D22A intron	CTD	PMID:30157460
TBC1D22A	Human	methidathion	decreases expression	ISO	Tbc1d22a (Mus musculus)	6480464	methidathion results in decreased expression of TBC1D22A mRNA	CTD	PMID:34813904
TBC1D22A	Human	methoxychlor	affects methylation	ISO	Tbc1d22a (Rattus norvegicus)	6480464	Methoxychlor affects the methylation of TBC1D22A gene	CTD	PMID:35440735
TBC1D22A	Human	nitrates	multiple interactions	ISO	Tbc1d22a (Mus musculus)	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of TBC1D22A mRNA	CTD	PMID:35964746
TBC1D22A	Human	ozone	multiple interactions	EXP		6480464	[Air Pollutants results in increased abundance of Ozone] which affects the expression of TBC1D22A mRNA	CTD	PMID:35430440
TBC1D22A	Human	paracetamol	affects expression	ISO	Tbc1d22a (Mus musculus)	6480464	Acetaminophen affects the expression of TBC1D22A mRNA	CTD	PMID:17562736
TBC1D22A	Human	paracetamol	decreases expression	ISO	Tbc1d22a (Rattus norvegicus)	6480464	Acetaminophen results in decreased expression of TBC1D22A mRNA	CTD	PMID:33387578
TBC1D22A	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of TBC1D22A mRNA	CTD	PMID:22230336
TBC1D22A	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of TBC1D22A mRNA	CTD	PMID:29301061
TBC1D22A	Human	tert-butyl hydroperoxide	decreases expression	EXP		6480464	tert-Butylhydroperoxide results in decreased expression of TBC1D22A mRNA	CTD	PMID:15336504
TBC1D22A	Human	titanium dioxide	decreases methylation	ISO	Tbc1d22a (Mus musculus)	6480464	titanium dioxide results in decreased methylation of TBC1D22A gene and titanium dioxide results in decreased methylation of TBC1D22A promoter	CTD	PMID:35295148
TBC1D22A	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of TBC1D22A mRNA	CTD	PMID:37042841

Biological Process

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBC1D22A	Human	regulation of cilium assembly	NOT\|involved_in	IMP		150520179	PMID:17646400	UniProt	PMID:17646400

Cellular Component

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBC1D22A	Human	Golgi apparatus	is_active_in	IBA	CGD:CAL0000181837 more ...	150520179		GO_Central	GO_REF:0000033

Molecular Function

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBC1D22A	Human	14-3-3 protein binding	enables	IDA		150520179	PMID:23572552	UniProt	PMID:23572552
TBC1D22A	Human	GTPase activator activity	enables	IEA	UniProtKB-KW:KW-0343	150520179		UniProt	GO_REF:0000043
TBC1D22A	Human	GTPase activator activity	enables	IBA	FB:FBgn0038855 more ...	150520179		GO_Central	GO_REF:0000033
TBC1D22A	Human	protein binding	enables	IPI	UniProtKB:Q9H3P7	150520179	PMID:23572552 and PMID:33961781	IntAct	PMID:23572552 and PMID:33961781
TBC1D22A	Human	protein binding	enables	IPI	UniProtKB:P27348 more ...	150520179	PMID:23572552	UniProt	PMID:23572552
TBC1D22A	Human	protein binding	enables	IPI	UniProtKB:O43933 more ...	150520179	PMID:32814053	IntAct	PMID:32814053
TBC1D22A	Human	protein homodimerization activity	enables	IDA		150520179	PMID:18186464	UniProt	PMID:18186464

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBC1D22A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar

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

PMID:10591208	PMID:12477932	PMID:12529303	PMID:14702039	PMID:15461802	PMID:15489334	PMID:16344560	PMID:17646400	PMID:18029348	PMID:18186464	PMID:19077034	PMID:20379614
PMID:20834067	PMID:21873635	PMID:23526746	PMID:23572552	PMID:24255178	PMID:26186194	PMID:26496610	PMID:28514442	PMID:28611215	PMID:29568061	PMID:30021884	PMID:32814053
PMID:33961781	PMID:34432599	PMID:34672954	PMID:35256949	PMID:35509820	PMID:36897256

TBC1D22A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	46,762,650 - 47,175,699 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	46,762,617 - 47,175,699 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	47,158,547 - 47,571,342 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	45,537,213 - 45,948,390 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	22	31,074,220 - 31,486,114 (+)	NCBI		Celera
Cytogenetic Map	22	q13.31	NCBI
HuRef	22	30,103,503 - 30,516,056 (+)	NCBI		HuRef
CHM1_1	22	47,117,886 - 47,530,004 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	47,250,621 - 47,665,617 (+)	NCBI		T2T-CHM13v2.0

Tbc1d22a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	86,095,502 - 86,382,704 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	86,098,660 - 86,382,704 (+)	Ensembl		GRCm39 Ensembl
GRCm38	15	86,214,411 - 86,498,503 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	86,214,459 - 86,498,503 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	86,044,889 - 86,328,933 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	86,042,225 - 86,326,269 (+)	NCBI		MGSCv36	mm8
Celera	15	88,356,819 - 88,637,955 (+)	NCBI		Celera
Cytogenetic Map	15	E2	NCBI
cM Map	15	40.56	NCBI

Tbc1d22a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	119,172,284 - 119,457,271 (+)	NCBI		GRCr8
mRatBN7.2	7	117,292,481 - 117,577,473 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	117,292,631 - 117,577,483 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	119,044,006 - 119,331,705 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	121,269,640 - 121,557,332 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	121,239,221 - 121,526,927 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	127,081,769 - 127,227,601 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	127,081,978 - 127,223,231 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	126,792,288 - 126,930,133 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.1	7	124,240,095 - 124,527,412 (+)	NCBI
Celera	7	113,582,538 - 114,076,520 (+)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

Tbc1d22a
(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	30,709,724 - 31,026,238 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	30,710,432 - 31,025,784 (+)	NCBI	ChiLan1.0	ChiLan1.0

TBC1D22A
(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	23	56,605,984 - 57,025,743 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	59,297,405 - 59,716,769 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	26,934,409 - 27,353,029 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	45,830,747 - 46,241,738 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	45,830,747 - 46,241,738 (+)	Ensembl	panpan1.1		panPan2

TBC1D22A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	19,196,866 - 19,532,103 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	19,070,467 - 19,532,062 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	19,119,926 - 19,454,053 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	19,933,410 - 20,267,704 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	19,933,339 - 20,267,651 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	19,651,625 - 19,985,731 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	19,964,022 - 20,298,045 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	20,145,684 - 20,479,843 (-)	NCBI		UU_Cfam_GSD_1.0

Tbc1d22a
(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	2,963,792 - 3,272,058 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936629	2,966,507 - 3,272,030 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936629	2,965,289 - 3,272,028 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TBC1D22A
(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	2,528,921 - 2,787,304 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	2,528,920 - 2,787,313 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	126,533 - 312,712 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TBC1D22A
(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	19	29,260,995 - 29,681,768 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	19	29,261,018 - 29,684,409 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	95,780,108 - 96,253,332 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tbc1d22a
(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_004624752	2,903,130 - 3,273,535 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624752	2,816,547 - 3,272,693 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in TBC1D22A
55 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	copy number gain	See cases [RCV000050316]	Chr22:46183346..46791748 [GRCh38] Chr22:46579243..47187645 [GRCh37] Chr22:44957907..45566309 [NCBI36] Chr22:22q13.31	uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	copy number loss	See cases [RCV000050935]	Chr22:45239376..50739836 [GRCh38] Chr22:45635257..51178264 [GRCh37] Chr22:44013921..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31(chr22:47069266-47636658)x3	copy number gain	See cases [RCV000050847]	Chr22:47069266..47636658 [GRCh38] Chr22:47465162..48032407 [GRCh37] Chr22:45843826..46411071 [NCBI36] Chr22:22q13.31	uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]\|See cases [RCV000051370]	Chr22:42138114..50739836 [GRCh38] Chr22:42513525..51178264 [GRCh37] Chr22:40843471..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	copy number loss	See cases [RCV000051371]	Chr22:42433752..50738932 [GRCh38] Chr22:42829758..51177360 [GRCh37] Chr22:41159702..49524226 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	copy number loss	See cases [RCV000051407]	Chr22:42826246..50739836 [GRCh38] Chr22:43222252..51178264 [GRCh37] Chr22:41552196..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	copy number loss	See cases [RCV000051408]	Chr22:43807366..50739836 [GRCh38] Chr22:44203246..51178264 [GRCh37] Chr22:42534579..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1	copy number loss	See cases [RCV000051409]	Chr22:43993654..50739977 [GRCh38] Chr22:44389534..51178405 [GRCh37] Chr22:42720867..49525271 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	copy number loss	See cases [RCV000051410]	Chr22:44740175..50739836 [GRCh38] Chr22:45136055..51178264 [GRCh37] Chr22:43514719..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1	copy number loss	See cases [RCV000051411]	Chr22:45648256..50739836 [GRCh38] Chr22:46044136..51178264 [GRCh37] Chr22:44422800..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1	copy number loss	See cases [RCV000051412]	Chr22:47122613..50739836 [GRCh38] Chr22:47518509..51178264 [GRCh37] Chr22:45897173..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1	copy number loss	See cases [RCV000051098]	Chr22:46065705..50739836 [GRCh38] Chr22:46461585..51178264 [GRCh37] Chr22:44840249..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	copy number gain	See cases [RCV000051684]	Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	copy number gain	See cases [RCV000051686]	Chr22:42599757..50725241 [GRCh38] Chr22:42995763..51163669 [GRCh37] Chr22:41325707..49510535 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	copy number gain	See cases [RCV000051687]	Chr22:42653747..50739836 [GRCh38] Chr22:43049753..51178264 [GRCh37] Chr22:41379697..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]\|See cases [RCV000051688]	Chr22:44700812..50739836 [GRCh38] Chr22:45096692..51178264 [GRCh37] Chr22:43475356..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	copy number gain	See cases [RCV000051689]	Chr22:44811200..50739836 [GRCh38] Chr22:45207080..51178264 [GRCh37] Chr22:43585744..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3	copy number gain	See cases [RCV000051682]	Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3	copy number gain	See cases [RCV000052891]	Chr22:45954698..47245325 [GRCh38] Chr22:46350578..47641075 [GRCh37] Chr22:44729242..46019739 [NCBI36] Chr22:22q13.31	uncertain significance
GRCh38/hg38 22q13.31(chr22:46281772-48028340)x3	copy number gain	See cases [RCV000052892]	Chr22:46281772..48028340 [GRCh38] Chr22:46677669..48424155 [GRCh37] Chr22:45056333..46802819 [NCBI36] Chr22:22q13.31	uncertain significance
GRCh38/hg38 22q13.31(chr22:46395546-47339207)x3	copy number gain	See cases [RCV000052893]	Chr22:46395546..47339207 [GRCh38] Chr22:46791443..47734957 [GRCh37] Chr22:45170107..46113621 [NCBI36] Chr22:22q13.31	uncertain significance
NM_001284303.1(TBC1D22A):c.404-40085A>G	single nucleotide variant	Lung cancer [RCV000102091]	Chr22:46838568 [GRCh38] Chr22:47234465 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
Single allele	deletion	Intellectual disability [RCV001293376]	Chr22:42333802..51195728 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	copy number loss	See cases [RCV000133865]	Chr22:44606363..50739836 [GRCh38] Chr22:45002243..51178264 [GRCh37] Chr22:43380907..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	copy number gain	See cases [RCV000134513]	Chr22:40202014..50735806 [GRCh38] Chr22:40598018..51174234 [GRCh37] Chr22:38927964..49521100 [NCBI36] Chr22:22q13.1-13.33	pathogenic
GRCh38/hg38 22q13.31(chr22:46370888-47181144)x3	copy number gain	See cases [RCV000135571]	Chr22:46370888..47181144 [GRCh38] Chr22:46766785..47576897 [GRCh37] Chr22:45145449..45955561 [NCBI36] Chr22:22q13.31	pathogenic\|likely benign
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	copy number loss	See cases [RCV000135444]	Chr22:43902561..50739836 [GRCh38] Chr22:44298441..51178264 [GRCh37] Chr22:42629774..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	copy number gain	See cases [RCV000135528]	Chr22:42197923..47305564 [GRCh38] Chr22:42593929..47701314 [GRCh37] Chr22:40923873..46079978 [NCBI36] Chr22:22q13.2-13.31	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1	copy number loss	See cases [RCV000135615]	Chr22:46919818..50739836 [GRCh38] Chr22:47315714..51178264 [GRCh37] Chr22:45694378..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	copy number gain	See cases [RCV000136573]	Chr22:44797239..50739836 [GRCh38] Chr22:45193119..51178264 [GRCh37] Chr22:43571783..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	copy number gain	See cases [RCV000136124]	Chr22:43992879..50683114 [GRCh38] Chr22:44388759..51121542 [GRCh37] Chr22:42720092..49468408 [NCBI36] Chr22:22q13.31-13.33	benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	copy number loss	See cases [RCV000136921]	Chr22:41871143..50739836 [GRCh38] Chr22:42267147..51178264 [GRCh37] Chr22:40597093..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	copy number gain	See cases [RCV000137136]	Chr22:42710276..50739836 [GRCh38] Chr22:43106282..51178264 [GRCh37] Chr22:41436226..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	copy number loss	See cases [RCV000136894]	Chr22:44764289..50739836 [GRCh38] Chr22:45160169..51178264 [GRCh37] Chr22:43538833..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	copy number loss	See cases [RCV000136786]	Chr22:42493445..50268479 [GRCh38] Chr22:42889451..50706908 [GRCh37] Chr22:41219395..49049035 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1	copy number loss	See cases [RCV000138217]	Chr22:45445795..47832195 [GRCh38] Chr22:45841676..48227944 [GRCh37] Chr22:44220340..46606608 [NCBI36] Chr22:22q13.31	uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	copy number loss	See cases [RCV000141415]	Chr22:42837094..50735806 [GRCh38] Chr22:43233100..51174234 [GRCh37] Chr22:41563044..49521100 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	copy number loss	See cases [RCV000140901]	Chr22:43187980..50745444 [GRCh38] Chr22:43583986..51183872 [GRCh37] Chr22:41913930..49530738 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1	copy number loss	See cases [RCV000140772]	Chr22:46732445..50780522 [GRCh38] Chr22:47128342..51218950 [GRCh37] Chr22:45507006..49565816 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	copy number gain	See cases [RCV000141659]	Chr22:42380961..50759410 [GRCh38] Chr22:42776967..51197838 [GRCh37] Chr22:41106911..49544704 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	copy number gain	See cases [RCV000142755]	Chr22:42080077..50739836 [GRCh38] Chr22:42476081..51178264 [GRCh37] Chr22:40806027..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1	copy number loss	See cases [RCV000143487]	Chr22:46361165..50759299 [GRCh38] Chr22:46757062..51197727 [GRCh37] Chr22:45135726..49544593 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	copy number gain	See cases [RCV000148265]	Chr22:46183346..46791748 [GRCh38] Chr22:46579243..47187645 [GRCh37] Chr22:44957907..45566309 [NCBI36] Chr22:22q13.31	uncertain significance
Single allele	deletion	not provided [RCV000768459]	Chr22:46794432..51139778 [GRCh37] Chr22:22q13.31-13.33	likely pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1	copy number loss	See cases [RCV000239941]	Chr22:46316673..50357320 [GRCh37] Chr22:22q13.31-13.33	likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	copy number gain	See cases [RCV000240469]	Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33	pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	copy number gain	See cases [RCV000240459]	Chr22:40425714..51220961 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1	copy number loss	See cases [RCV000449140]	Chr22:47247169..51176099 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1	copy number loss	See cases [RCV000446928]	Chr22:47187586..51237463 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.32(chr22:47465162-49147231)x4	copy number gain	See cases [RCV000447589]	Chr22:47465162..49147231 [GRCh37] Chr22:22q13.31-13.32	uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1	copy number loss	See cases [RCV000447857]	Chr22:46866460..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	copy number loss	See cases [RCV000512121]	Chr22:43381459..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1	copy number loss	See cases [RCV000510351]	Chr22:46543160..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1	copy number loss	See cases [RCV000511220]	Chr22:45261208..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	copy number loss	See cases [RCV000511256]	Chr22:43050743..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	copy number loss	See cases [RCV000510765]	Chr22:42441918..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1	copy number loss	See cases [RCV000511015]	Chr22:43875989..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
NM_014346.5(TBC1D22A):c.863G>A (p.Ser288Asn)	single nucleotide variant	not specified [RCV004313715]	Chr22:46894809 [GRCh38] Chr22:47290705 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.323G>A (p.Arg108Gln)	single nucleotide variant	not specified [RCV004289896]	Chr22:46793704 [GRCh38] Chr22:47189601 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.1337C>T (p.Pro446Leu)	single nucleotide variant	not specified [RCV004297221]	Chr22:47111515 [GRCh38] Chr22:47507411 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh37/hg19 22q13.31-13.32(chr22:46406694-48524541)x1	copy number loss	See cases [RCV000512399]	Chr22:46406694..48524541 [GRCh37] Chr22:22q13.31-13.32	uncertain significance
GRCh37/hg19 22q13.31(chr22:46977196-48257296)x1	copy number loss	See cases [RCV000512266]	Chr22:46977196..48257296 [GRCh37] Chr22:22q13.31	likely benign
GRCh37/hg19 22q13.31(chr22:47166175-47567936)x1	copy number loss	See cases [RCV000512240]	Chr22:47166175..47567936 [GRCh37] Chr22:22q13.31	likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1	copy number loss	not provided [RCV000684522]	Chr22:46780978..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1	copy number loss	not provided [RCV000684523]	Chr22:46768838..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1	copy number loss	not provided [RCV000684524]	Chr22:46667744..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1	copy number loss	not provided [RCV000684525]	Chr22:45994305..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1	copy number loss	not provided [RCV000684526]	Chr22:44789956..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	copy number loss	not provided [RCV000684527]	Chr22:43320284..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	copy number loss	not provided [RCV000684528]	Chr22:43111156..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	copy number loss	not provided [RCV000684529]	Chr22:42955616..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31(chr22:47247000-47377175)x1	copy number loss	not provided [RCV000684457]	Chr22:47247000..47377175 [GRCh37] Chr22:22q13.31	likely benign
GRCh37/hg19 22q13.31(chr22:47094317-47476379)x3	copy number gain	not provided [RCV000684471]	Chr22:47094317..47476379 [GRCh37] Chr22:22q13.31	likely benign
GRCh37/hg19 22q13.31(chr22:47108225-47753204)x3	copy number gain	not provided [RCV000684480]	Chr22:47108225..47753204 [GRCh37] Chr22:22q13.31	likely benign
GRCh37/hg19 22q13.31(chr22:46781330-47173786)x3	copy number gain	not provided [RCV000684474]	Chr22:46781330..47173786 [GRCh37] Chr22:22q13.31	likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1	copy number loss	not provided [RCV000741989]	Chr22:42151555..51195728 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31(chr22:47255040-47260154)x3	copy number gain	not provided [RCV000742056]	Chr22:47255040..47260154 [GRCh37] Chr22:22q13.31	benign
GRCh37/hg19 22q13.31(chr22:47255147-47256584)x3	copy number gain	not provided [RCV000742057]	Chr22:47255147..47256584 [GRCh37] Chr22:22q13.31	benign
GRCh37/hg19 22q13.31-13.32(chr22:47450911-48562589)x1	copy number loss	not provided [RCV000742058]	Chr22:47450911..48562589 [GRCh37] Chr22:22q13.31-13.32	likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_014346.5(TBC1D22A):c.524C>T (p.Thr175Met)	single nucleotide variant	not provided [RCV000965512]	Chr22:46797507 [GRCh38] Chr22:47193404 [GRCh37] Chr22:22q13.31	benign
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	copy number gain	not provided [RCV001007502]	Chr22:40502364..51197838 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	copy number loss	not provided [RCV000767746]	Chr22:45075720..51181759 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	copy number loss	Phelan-McDermid syndrome [RCV000767745]	Chr22:42416026..51181759 [GRCh37] Chr22:22q13.2-13.33	pathogenic
NM_014346.5(TBC1D22A):c.1462C>A (p.His488Asn)	single nucleotide variant	not specified [RCV004288527]	Chr22:47173534 [GRCh38] Chr22:47569177 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3	copy number gain	not provided [RCV000849204]	Chr22:46432744..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31(chr22:46799511-47767893)x3	copy number gain	not provided [RCV001007505]	Chr22:46799511..47767893 [GRCh37] Chr22:22q13.31	uncertain significance
Single allele	copy number loss	22q13.3 interstitial deletion [RCV001200047]	Chr22:44850001..50850001 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31(chr22:47325026-47432083)x1	copy number loss	not provided [RCV000846991]	Chr22:47325026..47432083 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	copy number gain	not provided [RCV001007181]	Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_014346.5(TBC1D22A):c.460+9G>C	single nucleotide variant	not provided [RCV000895448]	Chr22:46793850 [GRCh38] Chr22:47189747 [GRCh37] Chr22:22q13.31	benign
NM_014346.5(TBC1D22A):c.338C>T (p.Thr113Met)	single nucleotide variant	not provided [RCV000957767]	Chr22:46793719 [GRCh38] Chr22:47189616 [GRCh37] Chr22:22q13.31	benign
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	copy number gain	not provided [RCV002468433]	Chr22:43436847..51188164 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1	copy number loss	not provided [RCV002472642]	Chr22:45977448..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	copy number loss	not provided [RCV002473583]	Chr22:44390702..51137629 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31(chr22:46896864-47469215)x3	copy number gain	not provided [RCV001007192]	Chr22:46896864..47469215 [GRCh37] Chr22:22q13.31	likely benign
NC_000022.11:g.43032129_50739836del	deletion	Phelan-McDermid syndrome [RCV001254356]	Chr22:43032129..50739836 [GRCh38] Chr22:22q13.2-13.33	pathogenic
NC_000022.11:g.44702479_50806138del	deletion	Phelan-McDermid syndrome [RCV001254370]	Chr22:44702479..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.46489644_50806138del	deletion	Phelan-McDermid syndrome [RCV001254363]	Chr22:46489644..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.43802117_50806121del	deletion	Phelan-McDermid syndrome [RCV001254364]	Chr22:43802117..50806121 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.46269281_50740560del	deletion	Phelan-McDermid syndrome [RCV001254358]	Chr22:46269281..50740560 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.44245760_50806121del	deletion	Phelan-McDermid syndrome [RCV001254369]	Chr22:44245760..50806121 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.45708330_50737364del	deletion	Phelan-McDermid syndrome [RCV001254359]	Chr22:45708330..50737364 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.45819932_50737806del	deletion	Phelan-McDermid syndrome [RCV001254366]	Chr22:45819932..50737806 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.46467175_50759338del	deletion	Phelan-McDermid syndrome [RCV001254367]	Chr22:46467175..50759338 [GRCh38] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	copy number loss	Phelan-McDermid syndrome [RCV001801178]	Chr22:42321321..51244066 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1	copy number loss	not provided [RCV001795845]	Chr22:47554026..51186813 [GRCh37] Chr22:22q13.31-13.33	pathogenic
NM_014346.5(TBC1D22A):c.331C>T (p.Arg111Trp)	single nucleotide variant	Rare [RCV004801981]	Chr22:46793712 [GRCh38] Chr22:47189609 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	copy number loss	not specified [RCV002052757]	Chr22:42972719..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1	copy number loss	not provided [RCV001832912]	Chr22:47567951..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1	copy number loss	not provided [RCV002473520]	Chr22:45889148..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	copy number loss	not provided [RCV002472623]	Chr22:44178749..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1	copy number loss	not provided [RCV002472654]	Chr22:45977415..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
NM_014346.5(TBC1D22A):c.290C>T (p.Thr97Met)	single nucleotide variant	not specified [RCV004196712]	Chr22:46793671 [GRCh38] Chr22:47189568 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.842A>G (p.His281Arg)	single nucleotide variant	not specified [RCV004218698]	Chr22:46894788 [GRCh38] Chr22:47290684 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.1366G>A (p.Val456Met)	single nucleotide variant	not specified [RCV004200849]	Chr22:47111544 [GRCh38] Chr22:47507440 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.535A>G (p.Thr179Ala)	single nucleotide variant	not specified [RCV004192327]	Chr22:46797518 [GRCh38] Chr22:47193415 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.472G>A (p.Asp158Asn)	single nucleotide variant	not specified [RCV004247247]	Chr22:46797455 [GRCh38] Chr22:47193352 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.566C>T (p.Ala189Val)	single nucleotide variant	not specified [RCV004142897]	Chr22:46797549 [GRCh38] Chr22:47193446 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.760C>G (p.Gln254Glu)	single nucleotide variant	not specified [RCV004200850]	Chr22:46891317 [GRCh38] Chr22:47287213 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.1531G>A (p.Ala511Thr)	single nucleotide variant	not specified [RCV004124166]	Chr22:47173603 [GRCh38] Chr22:47569246 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.605A>G (p.Lys202Arg)	single nucleotide variant	not specified [RCV004069203]	Chr22:46797588 [GRCh38] Chr22:47193485 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.1258C>T (p.Arg420Cys)	single nucleotide variant	not specified [RCV004179761]	Chr22:47037127 [GRCh38] Chr22:47433023 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.157G>A (p.Val53Met)	single nucleotide variant	not specified [RCV004228169]	Chr22:46793538 [GRCh38] Chr22:47189435 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.401C>G (p.Pro134Arg)	single nucleotide variant	not specified [RCV004161009]	Chr22:46793782 [GRCh38] Chr22:47189679 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.1498G>A (p.Glu500Lys)	single nucleotide variant	not specified [RCV004126387]	Chr22:47173570 [GRCh38] Chr22:47569213 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.877A>G (p.Ile293Val)	single nucleotide variant	not specified [RCV004103411]	Chr22:46894823 [GRCh38] Chr22:47290719 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.478G>A (p.Ala160Thr)	single nucleotide variant	not specified [RCV004176893]	Chr22:46797461 [GRCh38] Chr22:47193358 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.1048G>A (p.Gly350Ser)	single nucleotide variant	not specified [RCV004233116]	Chr22:46974322 [GRCh38] Chr22:47370218 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.68A>G (p.Gln23Arg)	single nucleotide variant	not specified [RCV004278790]	Chr22:46792525 [GRCh38] Chr22:47188422 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.400C>A (p.Pro134Thr)	single nucleotide variant	not specified [RCV004284700]	Chr22:46793781 [GRCh38] Chr22:47189678 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.934C>T (p.Arg312Cys)	single nucleotide variant	not specified [RCV004281017]	Chr22:46912107 [GRCh38] Chr22:47308003 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	copy number gain	not provided [RCV003485247]	Chr22:45657164..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31(chr22:47419653-47480001)x1	copy number loss	not provided [RCV003483400]	Chr22:47419653..47480001 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	copy number loss	not provided [RCV003483399]	Chr22:45611226..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	copy number loss	not provided [RCV003457366]	Chr22:43820992..51218654 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	copy number loss	Phelan-McDermid syndrome [RCV003986080]	Chr22:44549957..50789329 [GRCh38] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	copy number loss	not specified [RCV003986178]	Chr22:44034281..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	copy number loss	not specified [RCV003986180]	Chr22:43107363..51156692 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	copy number loss	not specified [RCV003986171]	Chr22:44502872..51183871 [GRCh37] Chr22:22q13.31-13.33	pathogenic
NM_014346.5(TBC1D22A):c.512C>T (p.Ser171Leu)	single nucleotide variant	not specified [RCV004473901]	Chr22:46797495 [GRCh38] Chr22:47193392 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.1310G>A (p.Arg437His)	single nucleotide variant	not specified [RCV004473896]	Chr22:47037179 [GRCh38] Chr22:47433075 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.1394G>A (p.Arg465Lys)	single nucleotide variant	not specified [RCV004473897]	Chr22:47111572 [GRCh38] Chr22:47507468 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.403A>G (p.Ser135Gly)	single nucleotide variant	not specified [RCV004473898]	Chr22:46793784 [GRCh38] Chr22:47189681 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.428C>T (p.Ser143Leu)	single nucleotide variant	not specified [RCV004473899]	Chr22:46793809 [GRCh38] Chr22:47189706 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.464G>T (p.Ser155Ile)	single nucleotide variant	not specified [RCV004473900]	Chr22:46797447 [GRCh38] Chr22:47193344 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.149C>G (p.Thr50Ser)	single nucleotide variant	not specified [RCV004673419]	Chr22:46793530 [GRCh38] Chr22:47189427 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.1025A>T (p.Glu342Val)	single nucleotide variant	not specified [RCV004682004]	Chr22:46974299 [GRCh38] Chr22:47370195 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.469A>T (p.Ser157Cys)	single nucleotide variant	not specified [RCV004682005]	Chr22:46797452 [GRCh38] Chr22:47193349 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.286G>A (p.Glu96Lys)	single nucleotide variant	not specified [RCV004673420]	Chr22:46793667 [GRCh38] Chr22:47189564 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.1035G>A (p.Thr345=)	single nucleotide variant	not specified [RCV004673421]	Chr22:46974309 [GRCh38] Chr22:47370205 [GRCh37] Chr22:22q13.31	likely benign
GRCh37/hg19 22q13.2-13.33(chr22:43451317-50307583)x1	copy number loss	not provided [RCV004819399]	Chr22:43451317..50307583 [GRCh37] Chr22:22q13.2-13.33	pathogenic
NM_014346.5(TBC1D22A):c.1538A>G (p.Asn513Ser)	single nucleotide variant	not specified [RCV004869328]	Chr22:47173610 [GRCh38] Chr22:47569253 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.1057G>T (p.Ala353Ser)	single nucleotide variant	not specified [RCV004869329]	Chr22:46974331 [GRCh38] Chr22:47370227 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.307C>T (p.Arg103Cys)	single nucleotide variant	not specified [RCV004869330]	Chr22:46793688 [GRCh38] Chr22:47189585 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.626A>G (p.Asn209Ser)	single nucleotide variant	not specified [RCV004869331]	Chr22:46797609 [GRCh38] Chr22:47193506 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.589C>T (p.Arg197Trp)	single nucleotide variant	not specified [RCV004869333]	Chr22:46797572 [GRCh38] Chr22:47193469 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.613C>A (p.Leu205Ile)	single nucleotide variant	not specified [RCV004869334]	Chr22:46797596 [GRCh38] Chr22:47193493 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.1417G>T (p.Asp473Tyr)	single nucleotide variant	not specified [RCV004869335]	Chr22:47111595 [GRCh38] Chr22:47507491 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.934C>G (p.Arg312Gly)	single nucleotide variant	not specified [RCV004869336]	Chr22:46912107 [GRCh38] Chr22:47308003 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.251T>C (p.Met84Thr)	single nucleotide variant	not specified [RCV004869337]	Chr22:46793632 [GRCh38] Chr22:47189529 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.1213C>G (p.Arg405Gly)	single nucleotide variant	not specified [RCV004869338]	Chr22:47037082 [GRCh38] Chr22:47432978 [GRCh37] Chr22:22q13.31	uncertain significance
NM_014346.5(TBC1D22A):c.520G>A (p.Val174Ile)	single nucleotide variant	not specified [RCV004869332]	Chr22:46797503 [GRCh38] Chr22:47193400 [GRCh37] Chr22:22q13.31	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	4790
Count of miRNA genes:	1080
Interacting mature miRNAs:	1344
Transcripts:	ENST00000337137, ENST00000355704, ENST00000380995, ENST00000394449, ENST00000406733, ENST00000407381, ENST00000441162, ENST00000441936, ENST00000472791, ENST00000486163, ENST00000496139
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407078531	GWAS727507_H	BMI-adjusted waist-hip ratio QTL GWAS727507 (human)		1e-09	body size trait (VT:0100005)		22	46802158	46802159	Human
596965206	GWAS1084725_H	diet measurement, C-reactive protein measurement QTL GWAS1084725 (human)		0.000006	diet measurement, C-reactive protein measurement		22	47053745	47053746	Human
597332510	GWAS1428584_H	neuroimaging measurement QTL GWAS1428584 (human)		0.0000009	neuroimaging measurement		22	46800627	46800628	Human
597161683	GWAS1257757_H	lipid measurement QTL GWAS1257757 (human)		0.0000002	lipid measurement	blood lipid measurement (CMO:0000050)	22	46936186	46936187	Human
597162387	GWAS1258461_H	lipid measurement QTL GWAS1258461 (human)		0.0000003	lipid measurement	blood lipid measurement (CMO:0000050)	22	46948313	46948314	Human
597025232	GWAS1121306_H	pneumococcal meningitis QTL GWAS1121306 (human)		0.0000006	pneumococcal meningitis		22	47110264	47110265	Human
597320604	GWAS1416678_H	educational attainment QTL GWAS1416678 (human)		6e-12	educational attainment		22	46806794	46806795	Human
597162577	GWAS1258651_H	lipid measurement QTL GWAS1258651 (human)		0.000002	lipid measurement	blood lipid measurement (CMO:0000050)	22	46936186	46936187	Human
597331933	GWAS1428007_H	colorectal cancer QTL GWAS1428007 (human)		0.0000006	colorectal cancer		22	47095106	47095107	Human
597038686	GWAS1134760_H	gut microbiome measurement QTL GWAS1134760 (human)		0.0000005	gut microbiome measurement		22	47063014	47063015	Human
597237970	GWAS1334044_H	cortical thickness QTL GWAS1334044 (human)		2e-14	cortical thickness		22	46803251	46803252	Human
407079439	GWAS728415_H	waist-hip ratio QTL GWAS728415 (human)		5e-08	waist-hip ratio	waist to hip ratio (WHR) (CMO:0000020)	22	46802158	46802159	Human
597120198	GWAS1216272_H	cleft lip QTL GWAS1216272 (human)		0.000002	cleft lip		22	46763360	46763361	Human
597038789	GWAS1134863_H	gut microbiome measurement QTL GWAS1134863 (human)		0.000001	gut microbiome measurement		22	47063014	47063015	Human
597335438	GWAS1431512_H	S-warfarin measurement QTL GWAS1431512 (human)		0.000006	S-warfarin measurement		22	47129166	47129167	Human
597021955	GWAS1118029_H	interleukin-6 measurement QTL GWAS1118029 (human)		0.000008	interleukin-6 measurement	blood interleukin-6 level (CMO:0001926)	22	47075298	47075299	Human
597332045	GWAS1428119_H	neuroimaging measurement QTL GWAS1428119 (human)		0.0000007	neuroimaging measurement		22	46800627	46800628	Human
597097345	GWAS1193419_H	p-tau:beta-amyloid 1-42 ratio measurement QTL GWAS1193419 (human)		0.0000004	cerebral cortex integrity trait (VT:0010923)		22	46923312	46923313	Human
597333569	GWAS1429643_H	neuroimaging measurement QTL GWAS1429643 (human)		0.000005	neuroimaging measurement		22	46800627	46800628	Human
597060490	GWAS1156564_H	BMI-adjusted waist-hip ratio QTL GWAS1156564 (human)		5e-09	body size trait (VT:0100005)		22	46821780	46821781	Human
597126600	GWAS1222674_H	interleukin-1 beta measurement, response to stimulus QTL GWAS1222674 (human)		0.0000003	interleukin-1 beta measurement, response to stimulus		22	47162624	47162625	Human
597097524	GWAS1193598_H	t-tau:beta-amyloid 1-42 ratio measurement QTL GWAS1193598 (human)		0.000001	cerebral cortex integrity trait (VT:0010923)		22	46923312	46923313	Human
597582333	GWAS1639193_H	amyloid-beta measurement QTL GWAS1639193 (human)		0.000005	amyloid-beta measurement		22	46908756	46908757	Human
597153460	GWAS1249534_H	diet measurement, C-reactive protein measurement QTL GWAS1249534 (human)		0.000006	eating behavior trait (VT:0001431)	blood C-reactive protein level (CMO:0003160)	22	47053745	47053746	Human
407113058	GWAS762034_H	waist-hip ratio QTL GWAS762034 (human)		2e-08	waist-hip ratio	waist to hip ratio (WHR) (CMO:0000020)	22	46802158	46802159	Human
597268853	GWAS1364927_H	asthma exacerbation measurement, response to corticosteroid QTL GWAS1364927 (human)		0.000002	asthma exacerbation measurement, response to corticosteroid		22	46903259	46903260	Human
597333290	GWAS1429364_H	smoking cessation QTL GWAS1429364 (human)		1e-09	smoking cessation		22	46800627	46800628	Human
597102180	GWAS1198254_H	cognitive function measurement QTL GWAS1198254 (human)		6e-08	cognitive behavior trait (VT:0010450)		22	46772684	46772685	Human
597162337	GWAS1258411_H	lipid measurement QTL GWAS1258411 (human)		0.0000001	lipid measurement	blood lipid measurement (CMO:0000050)	22	46936186	46936187	Human
597128352	GWAS1224426_H	interleukin-1 beta measurement, response to stimulus QTL GWAS1224426 (human)		2e-08	interleukin-1 beta measurement, response to stimulus		22	47162953	47162954	Human
597186787	GWAS1282861_H	smoking cessation QTL GWAS1282861 (human)		6e-13	smoking cessation		22	46800627	46800628	Human
407056056	GWAS705032_H	cortical thickness QTL GWAS705032 (human)		2e-11	cortical thickness		22	46804457	46804458	Human
597030889	GWAS1126963_H	waist-hip ratio QTL GWAS1126963 (human)		1e-11	waist-hip ratio	waist to hip ratio (WHR) (CMO:0000020)	22	46818852	46818853	Human
597160554	GWAS1256628_H	lipid measurement QTL GWAS1256628 (human)		0.000007	lipid measurement	blood lipid measurement (CMO:0000050)	22	46936186	46936187	Human
597243876	GWAS1339950_H	progression free survival, response to carboplatin, ovarian carcinoma, trait in response to paclitaxel QTL GWAS1339950 (human)		0.000005	progression free survival, response to carboplatin, ovarian carcinoma, trait in response to paclitaxel	survival measurement (CMO:0001021)	22	47124913	47124914	Human
597313188	GWAS1409262_H	cortical thickness QTL GWAS1409262 (human)		1e-13	cortical thickness		22	46802158	46802159	Human

SGC31109

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,157,842 - 47,157,970	UniSTS	GRCh37
Build 36	22	45,536,506 - 45,536,634	RGD	NCBI36
Celera	22	31,073,544 - 31,073,672	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,102,827 - 30,102,955	UniSTS
GeneMap99-GB4 RH Map	22	154.64	UniSTS
Whitehead-RH Map	22	180.0	UniSTS
NCBI RH Map	22	232.0	UniSTS

RH70665

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,308,121 - 47,308,248	UniSTS	GRCh37
Build 36	22	45,686,785 - 45,686,912	RGD	NCBI36
Celera	22	31,223,011 - 31,223,138	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,252,884 - 30,253,011	UniSTS
GeneMap99-GB4 RH Map	22	154.74	UniSTS
NCBI RH Map	22	225.7	UniSTS

D22S611

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,413,481 - 47,413,586	UniSTS	GRCh37
Build 36	22	45,792,145 - 45,792,250	RGD	NCBI36
Celera	22	31,328,127 - 31,328,232	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,357,939 - 30,358,044	UniSTS
Whitehead-YAC Contig Map	22		UniSTS

RH91390

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,569,510 - 47,569,661	UniSTS	GRCh37
Build 36	22	45,948,174 - 45,948,325	RGD	NCBI36
Celera	22	31,484,282 - 31,484,433	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,514,240 - 30,514,391	UniSTS
GeneMap99-GB4 RH Map	22	156.61	UniSTS

G49298

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,298,722 - 47,299,082	UniSTS	GRCh37
Build 36	22	45,677,386 - 45,677,746	RGD	NCBI36
Celera	22	31,213,608 - 31,213,968	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,243,556 - 30,243,916	UniSTS

G49320

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,438,261 - 47,438,562	UniSTS	GRCh37
Build 36	22	45,816,925 - 45,817,226	RGD	NCBI36
Celera	22	31,352,934 - 31,353,235	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,382,530 - 30,382,831	UniSTS

G49328

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,343,024 - 47,343,384	UniSTS	GRCh37
Build 36	22	45,721,688 - 45,722,048	RGD	NCBI36
Celera	22	31,257,627 - 31,257,987	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,287,506 - 30,287,866	UniSTS

G49329

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,345,453 - 47,345,820	UniSTS	GRCh37
Build 36	22	45,724,117 - 45,724,484	RGD	NCBI36
Celera	22	31,260,057 - 31,260,424	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,289,936 - 30,290,303	UniSTS

G49330

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,358,247 - 47,358,624	UniSTS	GRCh37
Build 36	22	45,736,911 - 45,737,288	RGD	NCBI36
Celera	22	31,272,891 - 31,273,268	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,302,767 - 30,303,144	UniSTS

G49331

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,367,689 - 47,367,941	UniSTS	GRCh37
Build 36	22	45,746,353 - 45,746,605	RGD	NCBI36
Celera	22	31,282,333 - 31,282,585	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,312,208 - 30,312,460	UniSTS

G49332

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,369,788 - 47,370,155	UniSTS	GRCh37
Build 36	22	45,748,452 - 45,748,819	RGD	NCBI36
Celera	22	31,284,432 - 31,284,799	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,314,307 - 30,314,674	UniSTS

G49333

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,370,095 - 47,370,446	UniSTS	GRCh37
Build 36	22	45,748,759 - 45,749,110	RGD	NCBI36
Celera	22	31,284,739 - 31,285,090	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,314,614 - 30,314,965	UniSTS

G49334

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,370,949 - 47,371,333	UniSTS	GRCh37
Build 36	22	45,749,613 - 45,749,997	RGD	NCBI36
Celera	22	31,285,593 - 31,285,977	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,315,468 - 30,315,852	UniSTS

G49335

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,372,098 - 47,372,412	UniSTS	GRCh37
Build 36	22	45,750,762 - 45,751,076	RGD	NCBI36
Celera	22	31,286,742 - 31,287,056	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,316,617 - 30,316,931	UniSTS

G49336

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,380,299 - 47,380,567	UniSTS	GRCh37
Build 36	22	45,758,963 - 45,759,231	RGD	NCBI36
Celera	22	31,294,942 - 31,295,210	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,324,815 - 30,325,083	UniSTS

G49337

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,380,541 - 47,380,891	UniSTS	GRCh37
Build 36	22	45,759,205 - 45,759,555	RGD	NCBI36
Celera	22	31,295,184 - 31,295,534	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,325,057 - 30,325,407	UniSTS

G49338

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,388,484 - 47,388,873	UniSTS	GRCh37
Build 36	22	45,767,148 - 45,767,537	RGD	NCBI36
Celera	22	31,303,129 - 31,303,520	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,332,999 - 30,333,390	UniSTS

G49349

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,440,059 - 47,440,437	UniSTS	GRCh37
Build 36	22	45,818,723 - 45,819,101	RGD	NCBI36
Celera	22	31,354,732 - 31,355,110	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,384,360 - 30,384,738	UniSTS

G49350

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,440,397 - 47,440,751	UniSTS	GRCh37
Build 36	22	45,819,061 - 45,819,415	RGD	NCBI36
Celera	22	31,355,070 - 31,355,423	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,384,698 - 30,385,052	UniSTS

G49351

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,440,834 - 47,441,186	UniSTS	GRCh37
Build 36	22	45,819,498 - 45,819,850	RGD	NCBI36
Celera	22	31,355,506 - 31,355,858	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,385,135 - 30,385,487	UniSTS

G49352

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,440,861 - 47,441,231	UniSTS	GRCh37
Build 36	22	45,819,525 - 45,819,895	RGD	NCBI36
Celera	22	31,355,533 - 31,355,903	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,385,162 - 30,385,532	UniSTS

G49353

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,440,926 - 47,441,284	UniSTS	GRCh37
Build 36	22	45,819,590 - 45,819,948	RGD	NCBI36
Celera	22	31,355,598 - 31,355,956	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,385,227 - 30,385,585	UniSTS

G49354

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,441,294 - 47,441,648	UniSTS	GRCh37
Build 36	22	45,819,958 - 45,820,312	RGD	NCBI36
Celera	22	31,355,966 - 31,356,320	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,385,595 - 30,385,949	UniSTS

G49355

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,441,399 - 47,441,752	UniSTS	GRCh37
Build 36	22	45,820,063 - 45,820,416	RGD	NCBI36
Celera	22	31,356,071 - 31,356,424	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,385,700 - 30,386,053	UniSTS

G49356

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,441,654 - 47,442,040	UniSTS	GRCh37
Build 36	22	45,820,318 - 45,820,704	RGD	NCBI36
Celera	22	31,356,326 - 31,356,712	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,385,955 - 30,386,341	UniSTS

G49357

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,442,325 - 47,442,677	UniSTS	GRCh37
Build 36	22	45,820,989 - 45,821,341	RGD	NCBI36
Celera	22	31,356,997 - 31,357,349	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,386,626 - 30,386,978	UniSTS

G49358

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,443,365 - 47,443,737	UniSTS	GRCh37
Build 36	22	45,822,029 - 45,822,401	RGD	NCBI36
Celera	22	31,358,037 - 31,358,409	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,387,666 - 30,388,038	UniSTS

G49359

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,444,423 - 47,444,798	UniSTS	GRCh37
Build 36	22	45,823,087 - 45,823,462	RGD	NCBI36
Celera	22	31,359,095 - 31,359,470	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,388,724 - 30,389,099	UniSTS

G49360

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,444,587 - 47,444,938	UniSTS	GRCh37
Build 36	22	45,823,251 - 45,823,602	RGD	NCBI36
Celera	22	31,359,259 - 31,359,610	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,388,888 - 30,389,239	UniSTS

G49361

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,448,819 - 47,449,186	UniSTS	GRCh37
Build 36	22	45,827,483 - 45,827,850	RGD	NCBI36
Celera	22	31,363,491 - 31,363,858	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,393,120 - 30,393,487	UniSTS

G49362

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,458,569 - 47,458,936	UniSTS	GRCh37
Build 36	22	45,837,233 - 45,837,600	RGD	NCBI36
Celera	22	31,373,241 - 31,373,608	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,402,870 - 30,403,237	UniSTS

G49363

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,458,756 - 47,459,135	UniSTS	GRCh37
Build 36	22	45,837,420 - 45,837,799	RGD	NCBI36
Celera	22	31,373,428 - 31,373,807	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,403,057 - 30,403,436	UniSTS

G49364

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,459,200 - 47,459,558	UniSTS	GRCh37
Build 36	22	45,837,864 - 45,838,222	RGD	NCBI36
Celera	22	31,373,872 - 31,374,230	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,403,501 - 30,403,859	UniSTS

G49365

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,460,266 - 47,460,641	UniSTS	GRCh37
Build 36	22	45,838,930 - 45,839,305	RGD	NCBI36
Celera	22	31,374,938 - 31,375,313	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,404,568 - 30,404,943	UniSTS

G49366

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,460,438 - 47,460,689	UniSTS	GRCh37
Build 36	22	45,839,102 - 45,839,353	RGD	NCBI36
Celera	22	31,375,110 - 31,375,361	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,404,740 - 30,404,991	UniSTS

G49368

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,426,545 - 47,426,914	UniSTS	GRCh37
Build 36	22	45,805,209 - 45,805,578	RGD	NCBI36
Celera	22	31,341,216 - 31,341,585	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,370,814 - 30,371,183	UniSTS

G49369

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,430,037 - 47,430,387	UniSTS	GRCh37
Build 36	22	45,808,701 - 45,809,051	RGD	NCBI36
Celera	22	31,344,708 - 31,345,060	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,374,304 - 30,374,656	UniSTS

G49426

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,274,975 - 47,275,338	UniSTS	GRCh37
Build 36	22	45,653,639 - 45,654,002	RGD	NCBI36
Celera	22	31,189,862 - 31,190,224	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,219,825 - 30,220,186	UniSTS

D22S22

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,491,664 - 47,492,007	UniSTS	GRCh37
Build 36	22	45,870,328 - 45,870,671	RGD	NCBI36
Celera	22	31,406,435 - 31,406,778	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,435,512 - 30,435,855	UniSTS

D22S558

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,412,959 - 47,413,063	UniSTS	GRCh37
Build 36	22	45,791,623 - 45,791,727	RGD	NCBI36
Celera	22	31,327,605 - 31,327,709	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,357,417 - 30,357,521	UniSTS

G65365

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,388,461 - 47,388,811	UniSTS	GRCh37
Build 36	22	45,767,125 - 45,767,475	RGD	NCBI36
Celera	22	31,303,106 - 31,303,458	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,332,976 - 30,333,328	UniSTS

G65731

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,372,098 - 47,372,457	UniSTS	GRCh37
Build 36	22	45,750,762 - 45,751,121	RGD	NCBI36
Celera	22	31,286,742 - 31,287,101	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,316,617 - 30,316,976	UniSTS

SHGC-105075

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,327,631 - 47,327,918	UniSTS	GRCh37
Build 36	22	45,706,295 - 45,706,582	RGD	NCBI36
Celera	22	31,242,518 - 31,242,805	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,272,397 - 30,272,684	UniSTS
TNG Radiation Hybrid Map	22	11686.0	UniSTS

SHGC-105969

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,219,143 - 47,219,455	UniSTS	GRCh37
Build 36	22	45,597,807 - 45,598,119	RGD	NCBI36
Celera	22	31,134,594 - 31,134,906	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,163,894 - 30,164,206	UniSTS
TNG Radiation Hybrid Map	22	11714.0	UniSTS

SHGC-107488

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,254,425 - 47,254,745	UniSTS	GRCh37
Build 36	22	45,633,089 - 45,633,409	RGD	NCBI36
Celera	22	31,169,875 - 31,170,195	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,199,531 - 30,199,851	UniSTS
TNG Radiation Hybrid Map	22	11707.0	UniSTS

A009K40

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,369,499 - 47,369,649	UniSTS	GRCh37
Build 36	22	45,748,163 - 45,748,313	RGD	NCBI36
Celera	22	31,284,143 - 31,284,293	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,314,018 - 30,314,168	UniSTS
GeneMap99-GB4 RH Map	22	154.74	UniSTS
NCBI RH Map	22	223.5	UniSTS

AL008663

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,422,208 - 47,422,387	UniSTS	GRCh37
Build 36	22	45,800,872 - 45,801,051	RGD	NCBI36
Celera	22	31,336,879 - 31,337,058	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,366,648 - 30,366,827	UniSTS

RH66495

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,309,416 - 47,309,519	UniSTS	GRCh37
Build 36	22	45,688,080 - 45,688,183	RGD	NCBI36
Celera	22	31,224,306 - 31,224,409	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,254,179 - 30,254,282	UniSTS
GeneMap99-GB4 RH Map	22	173.6	UniSTS

D22S1592

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,311,091 - 47,311,388	UniSTS	GRCh37
Build 36	22	45,689,755 - 45,690,052	RGD	NCBI36
Celera	22	31,225,980 - 31,226,277	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	30,255,853 - 30,256,150	UniSTS

D22S1593

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,491,658 - 47,492,005	UniSTS	GRCh37
Build 36	22	45,870,322 - 45,870,669	RGD	NCBI36
Celera	22	31,406,429 - 31,406,776	RGD
HuRef	22	30,435,506 - 30,435,853	UniSTS

D22S1599

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,313,915 - 47,314,177	UniSTS	GRCh37
Build 36	22	45,692,579 - 45,692,841	RGD	NCBI36
Celera	22	31,228,804 - 31,229,066	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	30,258,677 - 30,258,939	UniSTS

D22S295

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,302,618 - 47,302,888	UniSTS	GRCh37
Build 36	22	45,681,282 - 45,681,552	RGD	NCBI36
Celera	22	31,217,508 - 31,217,778	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,247,456 - 30,247,726	UniSTS
Whitehead-YAC Contig Map	22		UniSTS

AL008673

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,284,494 - 47,284,632	UniSTS	GRCh37
Build 36	22	45,663,158 - 45,663,296	RGD	NCBI36
Celera	22	31,199,379 - 31,199,517	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,229,325 - 30,229,463	UniSTS

AL023601

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,229,107 - 47,229,296	UniSTS	GRCh37
Build 36	22	45,607,771 - 45,607,960	RGD	NCBI36
Celera	22	31,144,558 - 31,144,747	RGD
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,173,858 - 30,174,047	UniSTS

G32626

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	47,369,499 - 47,369,649	UniSTS	GRCh37
Celera	22	31,284,143 - 31,284,293	UniSTS
Cytogenetic Map	22	q13.3	UniSTS
HuRef	22	30,314,018 - 30,314,168	UniSTS

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NM_001284303	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001284304	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001284305	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001410803	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_014346	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_104292	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005261496	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011530099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011530100	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011530101	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011530102	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017028742	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017028743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017028744	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017028746	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017028747	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024452198	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441306	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441307	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441309	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325465	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325466	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325467	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325468	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325470	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325471	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325472	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325473	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325474	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325475	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325476	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001755202	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001755203	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001755204	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001755205	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001755206	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002958682	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007067970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007067971	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008485383	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_244364	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB449908	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000851	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK055591	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK125705	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK127653	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK301445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308039	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315779	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL023576	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL023733	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL078642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL096779	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL118516	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001292	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC002743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC022417	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC029897	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456412	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA990679	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB339610	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FP325331	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY033225	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF457495	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF457501	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF495831	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF511470	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U51559	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U51561	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z79999	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z80896	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z81000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z82187	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z97351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000337137 ⟹ ENSP00000336724

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	46,762,650 - 47,175,693 (+)	Ensembl

Ensembl Acc Id:

ENST00000355704 ⟹ ENSP00000347932

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	46,762,681 - 47,174,086 (+)	Ensembl

Ensembl Acc Id:

ENST00000380995 ⟹ ENSP00000370383

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	46,762,617 - 47,175,699 (+)	Ensembl

Ensembl Acc Id:

ENST00000394449 ⟹ ENSP00000377964

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	46,762,683 - 47,174,087 (+)	Ensembl

Ensembl Acc Id:

ENST00000406733 ⟹ ENSP00000385634

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	46,773,927 - 47,174,092 (+)	Ensembl

Ensembl Acc Id:

ENST00000407381 ⟹ ENSP00000384036

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	46,762,672 - 47,174,083 (+)	Ensembl

Ensembl Acc Id:

ENST00000441162 ⟹ ENSP00000406214

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	46,763,742 - 47,174,092 (+)	Ensembl

Ensembl Acc Id:

ENST00000441936 ⟹ ENSP00000398828

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	46,762,651 - 46,793,675 (+)	Ensembl

Ensembl Acc Id:

ENST00000472791

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	46,763,266 - 46,793,775 (+)	Ensembl

Ensembl Acc Id:

ENST00000486163

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	46,762,659 - 46,793,671 (+)	Ensembl

Ensembl Acc Id:

ENST00000496139

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	46,762,687 - 46,793,616 (+)	Ensembl

RefSeq Acc Id:

NM_001284303 ⟹ NP_001271232

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 47,175,693 (+)	NCBI
HuRef	22	30,103,499 - 30,516,056 (+)	NCBI
CHM1_1	22	47,117,882 - 47,530,004 (+)	NCBI
T2T-CHM13v2.0	22	47,250,621 - 47,665,611 (+)	NCBI

Sequence:

show sequence

GGAAGAGCTTCTCGGCTCTAGGCTCTGGAGTCCCGGGAGCAGTGAGGGGCCACCCGGGGCACAGGAAAGGGCCGCTAGGGGAGGGCCGGGTGCACTCGGGGTGTCTGGGCCGCGGGTCTGAGGGATGA
GGAGGGGCCATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAGCGCAGCAACAGCAAGCTCCCGGGCAGTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGCCAAGAGGGTCAG
CACCTTCCAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGCTGGGGAGGACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGGCCAACCGTGTGC
TGCGTAACCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGGGCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTGGTGAAGTCGGTC
AGTGAGAGCCACACGTCCTGTCCTGCAGAGGAATTACGGAGGTTGAGCTGGTCCGGAATCCCTAAGCCAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAG
ACCAGCCACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGGAACGACGAAGTTCACCAGGACACATACAGGCAGATCCACATAGACATCCCTCGCATGAGCC
CTGAAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGATCCGCCACCCAGCCAGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTG
GTCTTCATTTGTGAATACATAGAGGCAGAGGAGGTGGACACGGTGGACGTCTCCGGCGTGCCCGCAGAGGTGCTGTGCAACATCGAGGCCGACACCTACTGGTGCATGAGCAAGCTGCTGGATGGCAT
TCAGGACAACTACACCTTTGCCCAACCTGGGATTCAAATGAAAGTGAAAATGTTAGAAGAACTCGTGAGCCGGATTGATGAGCAAGTGCACCGGCACCTGGACCAACACGAAGTGAGATACCTGCAGT
TTGCCTTCCGCTGGATGAACAACCTGCTGATGAGGGAGGTGCCCCTGCGTTGTACCATCCGCCTGTGGGACACCTACCAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCT
TTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGAGCTGCTGCTCTTCCTCCAGAACCTGCCCACAGCCCACTGGGATGATGAGGACATCAGCCTGTTGCTGGCCGAGGCCTA
CCGCCTCAAGTTTGCTTTTGCCGACGCCCCCAATCACTACAAGAAATGAGCCCAGGCCCACCCGCAGCTGGCCTCACTGTCCCGGGTGGCGCGCCCCACCTGCCTGGCTGGTGGTAGGCCCCTGTGAG
CTGGTCCCGGGCTGCTAAAAGGCCTTGTGAGGTGGCCCCACCCTCCAGGGGAGCTGGTGAAGATGGGCCACAGACCTGGTCTAGGGCTGACAAAGACAGGGACAGCCTTTGTTTTCTGAGATACCAAA
GAGAGCCAGGGGAGGGCCCCGGGTTCGGCGGCCAGAGGCAGGTCAGGGGTCCCCTCTCCCTCTCCCTGCAATGTCCTTGCCAAATGACTGCCTCGTGCTGCCCCTAGTCCGGGGCAGCCTAGGAGGCC
GACCCTCTTTGGAGTCCTGCTGTCTGGGTGCCAGGGCCGGAACGAGGTAGTGGCCATCTCATACCTACTCTGAAATGCAAAACTTCTATTCTGTTGAGTGAAAGAATAAAATGTAGACAAAATCTAGA
CCGAGACGTTGCGCTGACCCGGGGTCTCTGTGCCGCGAGGTCCCCTCACAGCTGTATTTCACTGCTGCTGGCCCTTTCCCTCCGTGTGTTTTCCTGCTTGCTTGGTTTAAACGTGGCTGGGAAGCTGA
AGGCTGGAGTCCAAGCCGTGAGCCCGCCGAGTGCCTGGGAGGCCGTGGGACCAAAGGCTGGGAGCAGAGGGAGGCCTCGCCATCGCCTTACTTTCCACCTTGAACCTCTTTTACAAGAGAGAAACCCC
CACCTCCCTGAGGTCCAGGGCCAAGTGGCCCCGCCACGCAGGTAGGCGCCGGCCTCAGCCAGAGCCCCTGGAGGCCCACCCAGGCTGTCGGGCCATGTTGGGCTGGCAGACGGGCAGGGGGTCGCGTC
CCTGTCATCAAAGCCCTGAACCACAGTGCTCTTCTCACCGCAGCCTGGAAGCGGAATGAGCTTTTGGAGACTTCCTGGGACTTGCTGTCCTTGTCCAGGTCTGCCAGGTGTAGGGGAGGTGTGACTGG
TTCCATCATGGACCGGTTCCTCCATGGACCGGTTCCTCCGTGGACCGGTTCCGCCATGGACCGGTTCCGCCATGGACCACTCCTGCCCTGGACCACTCCTGCCCTGGACCGGTTCTGCCGTGGACTGG
TTCCCGCCGTGGACCAGTTCCCGCTGTATACTGGTTCTGCCCTGGACTGGTTCCCGCTGTGGACTGGTTCCTTGGGGCTCTAAGTGCGGAAGGGCCCAGAGCTGGTCCCTGCCCAGCGCCCTGCTAGG
GCTGTGTCCTTGGCTCCAGGGGCCTTGGGACTGGCTTCCCAGCGTTCCCTCGGTGTGTCACAGGCTGCATGACCCCTGGAATGCGGGCAGGGCCACAGCCACAGTCTGTCTGATCCCTGAGCCCAGGA
CAGGCTCACGTCCTCAGCGACCCACTGGTGACTGACTTCCCAGACTCTCCTCTGTCCCTCAGGAGCAGCCGTGTCCTCTCCCAGGCCCTAGGACACTGCCAGAGACTGTGGGACATACAGGCATAAGT
GATGTGTGTGTTTCTGCTTCTGTTTTAAAAATCCAGGGTCATTACACACAGCATGGAAATTAGCACAAAATGCTGTGCAAACGTCAGATGCTCCCAAACCAGCAAAGGGATGGGCTTGCTTCACATCA
GATGCGGGCACGCCTTACCCCTGCCTTCCGTGTCCCCACCCCAGGGTCAAGGGTTCCTCAGACCAGCCATGCCTCCTCCTCCTGCCGCCTCCTTTTCTAGATGGGGAGGGGATTCCGTCACAAGAAGA
GCCGCCCCTCGGCCGTGTGCAGGAAGCCCCATGTCGCTTTGCCGAGATCAGCCCTGGGAGGATCCCCTTCTCCAGCTCAGATCATGCCGTGTGGCCAGAAGGCTGCGGACACAACTGACCTGCTTCTC
GAGGTGGTTGATGTTTTAAACAGGAAGCTCCACGGAGTTCAGCCCTGTGTGCATTTCCTCATGTATGTAAACGCCAAGACTGAATGTGAGAGGTGTTGGCCGCGGGCCTTAAGTCTGAGCAGATCCAT
CTGGAATGTTCGGGGTGTGCTGTCTGGATGTGGTGCGCTAAAAACACGGAATAAAGATCAGTGACAAA

hide sequence

RefSeq Acc Id:

NM_001284304 ⟹ NP_001271233

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 47,175,693 (+)	NCBI
HuRef	22	30,103,499 - 30,516,056 (+)	NCBI
CHM1_1	22	47,117,882 - 47,530,004 (+)	NCBI
T2T-CHM13v2.0	22	47,250,621 - 47,665,611 (+)	NCBI

Sequence:

show sequence

GGAAGAGCTTCTCGGCTCTAGGCTCTGGAGTCCCGGGAGCAGTGAGGGGCCACCCGGGGCACAGGAAAGGGCCGCTAGGGGAGGGCCGGGTGCACTCGGGGTGTCTGGGCCGCGGGTCTGAGGGATGA
GGAGGGGCCATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAGCGCAGCAACAGCAAGCTCCCGGGCAGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTGATCCACTGTTACATGGCAC
GCATTCCTCAGGGAGGAGACTGGTTTCTCATTCAGCCACACTGATCAAGCAGTCGCTTTGTGTGAGATACTGTGCACCCCGTGCTGCGCATCCCGGTGAAGACGGCGGATGTGGGAGCCACAGCCTGA
TGTGGGGAGTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGCCAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGCTGGGGAGGACGACGATG
AGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGGCCAACCGTGTGCTGCGTAACCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGGGCTTCAGCAG
AAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTGGTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAAAGTGCCAGCGATGCCGCCCCTCTGCAGAGGTC
CCAGTCTCTCCCACACTCGGCCACCGTCACGCTGGGTGGCACATCTGACCCCAGCACTCTCAGCAGCTCAGCGCTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTGCTTGCCGGCC
CCAACACGGACCTTGAGGAATTACGGAGGTTGAGCTGGTCCGGAATCCCTAAGCCAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAGACCAGCCACTCTC
CAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGGAACGACGAAGTTCACCAGGACACATACAGGCAGATCCACATAGACATCCCTCGCATGAGCCCTGAAGCGTTGAT
CCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGATCCGCCACCCAGCCAGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTCTTCATTTGTG
AATACATAGAGGCAGAGGAGGTGGACACGGTGGACGTCTCCGGCGTGCCCGCAGAGGTGCTGTGCAACATCGAGGCCGACACCTACTGGTGCATGAGCAAGCTGCTGGATGGCATTCAGGACAACTAC
ACCTTTGCCCAACCTGGGATTCAAATGAAAGTGAAAATGTTAGAAGAACTCGTGAGCCGGATTGATGAGCAAGTGCACCGGCACCTGGACCAACACGAAGTGAGATACCTGCAGTTTGCCTTCCGCTG
GATGAACAACCTGCTGATGAGGGAGGTGCCCCTGCGTTGTACCATCCGCCTGTGGGACACCTACCAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGAT
GGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGAGCTGCTGCTCTTCCTCCAGAACCTGCCCACAGCCCACTGGGATGATGAGGACATCAGCCTGTTGCTGGCCGAGGCCTACCGCCTCAAGTTT
GCTTTTGCCGACGCCCCCAATCACTACAAGAAATGAGCCCAGGCCCACCCGCAGCTGGCCTCACTGTCCCGGGTGGCGCGCCCCACCTGCCTGGCTGGTGGTAGGCCCCTGTGAGCTGGTCCCGGGCT
GCTAAAAGGCCTTGTGAGGTGGCCCCACCCTCCAGGGGAGCTGGTGAAGATGGGCCACAGACCTGGTCTAGGGCTGACAAAGACAGGGACAGCCTTTGTTTTCTGAGATACCAAAGAGAGCCAGGGGA
GGGCCCCGGGTTCGGCGGCCAGAGGCAGGTCAGGGGTCCCCTCTCCCTCTCCCTGCAATGTCCTTGCCAAATGACTGCCTCGTGCTGCCCCTAGTCCGGGGCAGCCTAGGAGGCCGACCCTCTTTGGA
GTCCTGCTGTCTGGGTGCCAGGGCCGGAACGAGGTAGTGGCCATCTCATACCTACTCTGAAATGCAAAACTTCTATTCTGTTGAGTGAAAGAATAAAATGTAGACAAAATCTAGACCGAGACGTTGCG
CTGACCCGGGGTCTCTGTGCCGCGAGGTCCCCTCACAGCTGTATTTCACTGCTGCTGGCCCTTTCCCTCCGTGTGTTTTCCTGCTTGCTTGGTTTAAACGTGGCTGGGAAGCTGAAGGCTGGAGTCCA
AGCCGTGAGCCCGCCGAGTGCCTGGGAGGCCGTGGGACCAAAGGCTGGGAGCAGAGGGAGGCCTCGCCATCGCCTTACTTTCCACCTTGAACCTCTTTTACAAGAGAGAAACCCCCACCTCCCTGAGG
TCCAGGGCCAAGTGGCCCCGCCACGCAGGTAGGCGCCGGCCTCAGCCAGAGCCCCTGGAGGCCCACCCAGGCTGTCGGGCCATGTTGGGCTGGCAGACGGGCAGGGGGTCGCGTCCCTGTCATCAAAG
CCCTGAACCACAGTGCTCTTCTCACCGCAGCCTGGAAGCGGAATGAGCTTTTGGAGACTTCCTGGGACTTGCTGTCCTTGTCCAGGTCTGCCAGGTGTAGGGGAGGTGTGACTGGTTCCATCATGGAC
CGGTTCCTCCATGGACCGGTTCCTCCGTGGACCGGTTCCGCCATGGACCGGTTCCGCCATGGACCACTCCTGCCCTGGACCACTCCTGCCCTGGACCGGTTCTGCCGTGGACTGGTTCCCGCCGTGGA
CCAGTTCCCGCTGTATACTGGTTCTGCCCTGGACTGGTTCCCGCTGTGGACTGGTTCCTTGGGGCTCTAAGTGCGGAAGGGCCCAGAGCTGGTCCCTGCCCAGCGCCCTGCTAGGGCTGTGTCCTTGG
CTCCAGGGGCCTTGGGACTGGCTTCCCAGCGTTCCCTCGGTGTGTCACAGGCTGCATGACCCCTGGAATGCGGGCAGGGCCACAGCCACAGTCTGTCTGATCCCTGAGCCCAGGACAGGCTCACGTCC
TCAGCGACCCACTGGTGACTGACTTCCCAGACTCTCCTCTGTCCCTCAGGAGCAGCCGTGTCCTCTCCCAGGCCCTAGGACACTGCCAGAGACTGTGGGACATACAGGCATAAGTGATGTGTGTGTTT
CTGCTTCTGTTTTAAAAATCCAGGGTCATTACACACAGCATGGAAATTAGCACAAAATGCTGTGCAAACGTCAGATGCTCCCAAACCAGCAAAGGGATGGGCTTGCTTCACATCAGATGCGGGCACGC
CTTACCCCTGCCTTCCGTGTCCCCACCCCAGGGTCAAGGGTTCCTCAGACCAGCCATGCCTCCTCCTCCTGCCGCCTCCTTTTCTAGATGGGGAGGGGATTCCGTCACAAGAAGAGCCGCCCCTCGGC
CGTGTGCAGGAAGCCCCATGTCGCTTTGCCGAGATCAGCCCTGGGAGGATCCCCTTCTCCAGCTCAGATCATGCCGTGTGGCCAGAAGGCTGCGGACACAACTGACCTGCTTCTCGAGGTGGTTGATG
TTTTAAACAGGAAGCTCCACGGAGTTCAGCCCTGTGTGCATTTCCTCATGTATGTAAACGCCAAGACTGAATGTGAGAGGTGTTGGCCGCGGGCCTTAAGTCTGAGCAGATCCATCTGGAATGTTCGG
GGTGTGCTGTCTGGATGTGGTGCGCTAAAAACACGGAATAAAGATCAGTGACAAA

hide sequence

RefSeq Acc Id:

NM_001284305 ⟹ NP_001271234

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,774,098 - 47,175,693 (+)	NCBI
HuRef	22	30,103,499 - 30,516,056 (+)	NCBI
CHM1_1	22	47,129,205 - 47,530,004 (+)	NCBI
T2T-CHM13v2.0	22	47,262,490 - 47,665,611 (+)	NCBI

Sequence:

show sequence

CTGTTTGAACTCAGGCTGCTGCCTGCTGGGCCTGCCTGCCCTTGGAGCCCTGCTGAGCTCAGCC
TGAGGCCTGGCTCCTCCAGGCTGGGGGAAAACCAGGCTTGCTGTGCTCGGCAGCAGAGATTCTTCTGGAGTGAGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTGATCCACTGTTACATGG
CACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGCCAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGCTGGGGAGGACGACGATGAGCTCC
TGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGGCCAACCGTGTGCTGCGTAACCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGGGCTTCAGCAGAAGCCC
AGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTGGTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAAAGTGCCAGCGATGCCGCCCCTCTGCAGAGGTCCCAGTC
TCTCCCACACTCGGCCACCGTCACGCTGGGTGGCACATCTGACCCCAGCACTCTCAGCAGCTCAGCGCTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTGCTTGCCGGCCCCAACA
CGGACCTTGAGGAATTACGGAGGTTGAGCTGGTCCGGAATCCCTAAGCCAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAGACCAGCCACTCTCCAGAGA
AAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGGAACGACGAAGTTCACCAGGACACATACAGGCAGATCCACATAGACATCCCTCGCATGAGCCCTGAAGCGTTGATCCTGCA
GCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGATCCGCCACCCAGCCAGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTCTTCATTTGTGAATACA
TAGAGGCAGAGGAGGTGGACACGGTGGACGTCTCCGGCGTGCCCGCAGAGGTGCTGTGCAACATCGAGGCCGACACCTACTGGTGCATGAGCAAGCTGCTGGATGGCATTCAGGACAACTACACCTTT
GCCCAACCTGGGATTCAAATGAAAGTGAAAATGTTAGAAGAACTCGTGAGCCGGATTGATGAGCAAGTGCACCGGCACCTGGACCAACACGAAGTGAGATACCTGCAGTTTGCCTTCCGCTGGATGAA
CAACCTGCTGATGAGGGAGGTGCCCCTGCGTTGTACCATCCGCCTGTGGGACACCTACCAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGA
AGGAAATACTAGAAGAAAAAGATTTTCAAGAGCTGCTGCTCTTCCTCCAGAACCTGCCCACAGCCCACTGGGATGATGAGGACATCAGCCTGTTGCTGGCCGAGGCCTACCGCCTCAAGTTTGCTTTT
GCCGACGCCCCCAATCACTACAAGAAATGAGCCCAGGCCCACCCGCAGCTGGCCTCACTGTCCCGGGTGGCGCGCCCCACCTGCCTGGCTGGTGGTAGGCCCCTGTGAGCTGGTCCCGGGCTGCTAAA
AGGCCTTGTGAGGTGGCCCCACCCTCCAGGGGAGCTGGTGAAGATGGGCCACAGACCTGGTCTAGGGCTGACAAAGACAGGGACAGCCTTTGTTTTCTGAGATACCAAAGAGAGCCAGGGGAGGGCCC
CGGGTTCGGCGGCCAGAGGCAGGTCAGGGGTCCCCTCTCCCTCTCCCTGCAATGTCCTTGCCAAATGACTGCCTCGTGCTGCCCCTAGTCCGGGGCAGCCTAGGAGGCCGACCCTCTTTGGAGTCCTG
CTGTCTGGGTGCCAGGGCCGGAACGAGGTAGTGGCCATCTCATACCTACTCTGAAATGCAAAACTTCTATTCTGTTGAGTGAAAGAATAAAATGTAGACAAAATCTAGACCGAGACGTTGCGCTGACC
CGGGGTCTCTGTGCCGCGAGGTCCCCTCACAGCTGTATTTCACTGCTGCTGGCCCTTTCCCTCCGTGTGTTTTCCTGCTTGCTTGGTTTAAACGTGGCTGGGAAGCTGAAGGCTGGAGTCCAAGCCGT
GAGCCCGCCGAGTGCCTGGGAGGCCGTGGGACCAAAGGCTGGGAGCAGAGGGAGGCCTCGCCATCGCCTTACTTTCCACCTTGAACCTCTTTTACAAGAGAGAAACCCCCACCTCCCTGAGGTCCAGG
GCCAAGTGGCCCCGCCACGCAGGTAGGCGCCGGCCTCAGCCAGAGCCCCTGGAGGCCCACCCAGGCTGTCGGGCCATGTTGGGCTGGCAGACGGGCAGGGGGTCGCGTCCCTGTCATCAAAGCCCTGA
ACCACAGTGCTCTTCTCACCGCAGCCTGGAAGCGGAATGAGCTTTTGGAGACTTCCTGGGACTTGCTGTCCTTGTCCAGGTCTGCCAGGTGTAGGGGAGGTGTGACTGGTTCCATCATGGACCGGTTC
CTCCATGGACCGGTTCCTCCGTGGACCGGTTCCGCCATGGACCGGTTCCGCCATGGACCACTCCTGCCCTGGACCACTCCTGCCCTGGACCGGTTCTGCCGTGGACTGGTTCCCGCCGTGGACCAGTT
CCCGCTGTATACTGGTTCTGCCCTGGACTGGTTCCCGCTGTGGACTGGTTCCTTGGGGCTCTAAGTGCGGAAGGGCCCAGAGCTGGTCCCTGCCCAGCGCCCTGCTAGGGCTGTGTCCTTGGCTCCAG
GGGCCTTGGGACTGGCTTCCCAGCGTTCCCTCGGTGTGTCACAGGCTGCATGACCCCTGGAATGCGGGCAGGGCCACAGCCACAGTCTGTCTGATCCCTGAGCCCAGGACAGGCTCACGTCCTCAGCG
ACCCACTGGTGACTGACTTCCCAGACTCTCCTCTGTCCCTCAGGAGCAGCCGTGTCCTCTCCCAGGCCCTAGGACACTGCCAGAGACTGTGGGACATACAGGCATAAGTGATGTGTGTGTTTCTGCTT
CTGTTTTAAAAATCCAGGGTCATTACACACAGCATGGAAATTAGCACAAAATGCTGTGCAAACGTCAGATGCTCCCAAACCAGCAAAGGGATGGGCTTGCTTCACATCAGATGCGGGCACGCCTTACC
CCTGCCTTCCGTGTCCCCACCCCAGGGTCAAGGGTTCCTCAGACCAGCCATGCCTCCTCCTCCTGCCGCCTCCTTTTCTAGATGGGGAGGGGATTCCGTCACAAGAAGAGCCGCCCCTCGGCCGTGTG
CAGGAAGCCCCATGTCGCTTTGCCGAGATCAGCCCTGGGAGGATCCCCTTCTCCAGCTCAGATCATGCCGTGTGGCCAGAAGGCTGCGGACACAACTGACCTGCTTCTCGAGGTGGTTGATGTTTTAA
ACAGGAAGCTCCACGGAGTTCAGCCCTGTGTGCATTTCCTCATGTATGTAAACGCCAAGACTGAATGTGAGAGGTGTTGGCCGCGGGCCTTAAGTCTGAGCAGATCCATCTGGAATGTTCGGGGTGTG
CTGTCTGGATGTGGTGCGCTAAAAACACGGAATAAAGATCAGTGACAAA

hide sequence

RefSeq Acc Id:

NM_001410803 ⟹ NP_001397732

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 47,175,693 (+)	NCBI
T2T-CHM13v2.0	22	47,250,621 - 47,665,611 (+)	NCBI

RefSeq Acc Id:

NM_014346 ⟹ NP_055161

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 47,175,693 (+)	NCBI
GRCh37	22	47,158,514 - 47,571,342 (+)	NCBI
Build 36	22	45,537,213 - 45,948,390 (+)	NCBI Archive
Celera	22	31,074,220 - 31,486,114 (+)	RGD
HuRef	22	30,103,499 - 30,516,056 (+)	NCBI
CHM1_1	22	47,117,882 - 47,530,004 (+)	NCBI
T2T-CHM13v2.0	22	47,250,621 - 47,665,611 (+)	NCBI

Sequence:

show sequence

GGAAGAGCTTCTCGGCTCTAGGCTCTGGAGTCCCGGGAGCAGTGAGGGGCCACCCGGGGCACAG
GAAAGGGCCGCTAGGGGAGGGCCGGGTGCACTCGGGGTGTCTGGGCCGCGGGTCTGAGGGATGAGGAGGGGCCATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAGCGCAGCAACAGCAAGCTCC
CGGGCAGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTGATCCACTGTTACATGGCACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGCCAAGAGGGTCAGCACCTTC
CAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGCTGGGGAGGACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGGCCAACCGTGTGCTGCGTAA
CCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGGGCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTGGTGAAGTCGGTCAGTGAGA
GCCACACGTCCTGTCCTGCAGAAAGTGCCAGCGATGCCGCCCCTCTGCAGAGGTCCCAGTCTCTCCCACACTCGGCCACCGTCACGCTGGGTGGCACATCTGACCCCAGCACTCTCAGCAGCTCAGCG
CTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTGCTTGCCGGCCCCAACACGGACCTTGAGGAATTACGGAGGTTGAGCTGGTCCGGAATCCCTAAGCCAGTGCGTCCAATGACGTG
GAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAGACCAGCCACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGGAACGACGAAGTTCACCAGG
ACACATACAGGCAGATCCACATAGACATCCCTCGCATGAGCCCTGAAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGATCCGCCACCCAGCCAGTGGA
TACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTCTTCATTTGTGAATACATAGAGGCAGAGGAGGTGGACACGGTGGACGTCTCCGGCGTGCCCGCAGAGGTGCTGTGCAACATCGA
GGCCGACACCTACTGGTGCATGAGCAAGCTGCTGGATGGCATTCAGGACAACTACACCTTTGCCCAACCTGGGATTCAAATGAAAGTGAAAATGTTAGAAGAACTCGTGAGCCGGATTGATGAGCAAG
TGCACCGGCACCTGGACCAACACGAAGTGAGATACCTGCAGTTTGCCTTCCGCTGGATGAACAACCTGCTGATGAGGGAGGTGCCCCTGCGTTGTACCATCCGCCTGTGGGACACCTACCAGTCTGAA
CCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGAGCTGCTGCTCTTCCTCCAGAACCTGCCCACAGCCCA
CTGGGATGATGAGGACATCAGCCTGTTGCTGGCCGAGGCCTACCGCCTCAAGTTTGCTTTTGCCGACGCCCCCAATCACTACAAGAAATGAGCCCAGGCCCACCCGCAGCTGGCCTCACTGTCCCGGG
TGGCGCGCCCCACCTGCCTGGCTGGTGGTAGGCCCCTGTGAGCTGGTCCCGGGCTGCTAAAAGGCCTTGTGAGGTGGCCCCACCCTCCAGGGGAGCTGGTGAAGATGGGCCACAGACCTGGTCTAGGG
CTGACAAAGACAGGGACAGCCTTTGTTTTCTGAGATACCAAAGAGAGCCAGGGGAGGGCCCCGGGTTCGGCGGCCAGAGGCAGGTCAGGGGTCCCCTCTCCCTCTCCCTGCAATGTCCTTGCCAAATG
ACTGCCTCGTGCTGCCCCTAGTCCGGGGCAGCCTAGGAGGCCGACCCTCTTTGGAGTCCTGCTGTCTGGGTGCCAGGGCCGGAACGAGGTAGTGGCCATCTCATACCTACTCTGAAATGCAAAACTTC
TATTCTGTTGAGTGAAAGAATAAAATGTAGACAAAATCTAGACCGAGACGTTGCGCTGACCCGGGGTCTCTGTGCCGCGAGGTCCCCTCACAGCTGTATTTCACTGCTGCTGGCCCTTTCCCTCCGTG
TGTTTTCCTGCTTGCTTGGTTTAAACGTGGCTGGGAAGCTGAAGGCTGGAGTCCAAGCCGTGAGCCCGCCGAGTGCCTGGGAGGCCGTGGGACCAAAGGCTGGGAGCAGAGGGAGGCCTCGCCATCGC
CTTACTTTCCACCTTGAACCTCTTTTACAAGAGAGAAACCCCCACCTCCCTGAGGTCCAGGGCCAAGTGGCCCCGCCACGCAGGTAGGCGCCGGCCTCAGCCAGAGCCCCTGGAGGCCCACCCAGGCT
GTCGGGCCATGTTGGGCTGGCAGACGGGCAGGGGGTCGCGTCCCTGTCATCAAAGCCCTGAACCACAGTGCTCTTCTCACCGCAGCCTGGAAGCGGAATGAGCTTTTGGAGACTTCCTGGGACTTGCT
GTCCTTGTCCAGGTCTGCCAGGTGTAGGGGAGGTGTGACTGGTTCCATCATGGACCGGTTCCTCCATGGACCGGTTCCTCCGTGGACCGGTTCCGCCATGGACCGGTTCCGCCATGGACCACTCCTGC
CCTGGACCACTCCTGCCCTGGACCGGTTCTGCCGTGGACTGGTTCCCGCCGTGGACCAGTTCCCGCTGTATACTGGTTCTGCCCTGGACTGGTTCCCGCTGTGGACTGGTTCCTTGGGGCTCTAAGTG
CGGAAGGGCCCAGAGCTGGTCCCTGCCCAGCGCCCTGCTAGGGCTGTGTCCTTGGCTCCAGGGGCCTTGGGACTGGCTTCCCAGCGTTCCCTCGGTGTGTCACAGGCTGCATGACCCCTGGAATGCGG
GCAGGGCCACAGCCACAGTCTGTCTGATCCCTGAGCCCAGGACAGGCTCACGTCCTCAGCGACCCACTGGTGACTGACTTCCCAGACTCTCCTCTGTCCCTCAGGAGCAGCCGTGTCCTCTCCCAGGC
CCTAGGACACTGCCAGAGACTGTGGGACATACAGGCATAAGTGATGTGTGTGTTTCTGCTTCTGTTTTAAAAATCCAGGGTCATTACACACAGCATGGAAATTAGCACAAAATGCTGTGCAAACGTCA
GATGCTCCCAAACCAGCAAAGGGATGGGCTTGCTTCACATCAGATGCGGGCACGCCTTACCCCTGCCTTCCGTGTCCCCACCCCAGGGTCAAGGGTTCCTCAGACCAGCCATGCCTCCTCCTCCTGCC
GCCTCCTTTTCTAGATGGGGAGGGGATTCCGTCACAAGAAGAGCCGCCCCTCGGCCGTGTGCAGGAAGCCCCATGTCGCTTTGCCGAGATCAGCCCTGGGAGGATCCCCTTCTCCAGCTCAGATCATG
CCGTGTGGCCAGAAGGCTGCGGACACAACTGACCTGCTTCTCGAGGTGGTTGATGTTTTAAACAGGAAGCTCCACGGAGTTCAGCCCTGTGTGCATTTCCTCATGTATGTAAACGCCAAGACTGAATG
TGAGAGGTGTTGGCCGCGGGCCTTAAGTCTGAGCAGATCCATCTGGAATGTTCGGGGTGTGCTGTCTGGATGTGGTGCGCTAAAAACACGGAATAAAGATCAGTGACAAA

hide sequence

RefSeq Acc Id:

NR_104292

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,763,742 - 47,175,699 (+)	NCBI
HuRef	22	30,103,499 - 30,516,056 (+)	NCBI
CHM1_1	22	47,119,002 - 47,530,004 (+)	NCBI
T2T-CHM13v2.0	22	47,251,709 - 47,665,617 (+)	NCBI

Sequence:

show sequence

AATATTATTGTTTGAGTGTTTGAATGATAAACTTTGGAATTTACTGCATCCAGTTAGAAAAGTTTACTTTTGGCCAGGTGTGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGAC
AGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTCACCAACATGGAGAAACCTAGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCTGGCTACTTGGGAGGCTGAG
GCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTTCCATTGCACTCCATCCTGGGCAATAAGAGCGAAACTCTGTCTCAAAAAAAAAAAGGAAAGTTTACTTTTAAGAG
TGATCTGGGGGTTAGCAGCGTGAGTTACTGACAGCTCAGACAGTGGCTTTGAGAATGAAGGGAGTCATCAAAGGTGGCCGGAGACCCTATTCGACTCCACAGGACCGTGCTTGATTCGAGAACAGTAA
GACCTTTCAACAAAACCAGTGTCAGGGTCCAAGATTGGAGGCGTTGGGAGTCGGGGCAAGGGCAGAAGCAGGGAGACCAGGAGGCCAGGGTGCCGCAGCGTCCAGTGGTCACTGGTGGTGGCGGCTTG
CACCTGAGTGGAAGCTGTGGTGGTGGCAAGAAATGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTGATCCACTGTTACATGGCACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACC
AGTGAAGGCCAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGCTGGGGAGGACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCA
TGGAGACGGCCAACCGTGTGCTGCGTAACCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGGGCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGAC
CTCCGGCTGGTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAAAGTGCCAGCGATGCCGCCCCTCTGCAGAGGTCCCAGTCTCTCCCACACTCGGCCACCGTCACGCTGGGTGGCACATC
TGACCCCAGCACTCTCAGCAGCTCAGCGCTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTGCTTGCCGGCCCCAACACGGACCTTGAGGAATTACGGAGGTTGAGCTGGTCCGGAA
TCCCTAAGCCAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAGACCAGCCACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTAC
GATTCTAGGAACGACGAAGTTCACCAGGACACATACAGGCAGATCCACATAGACATCCCTCGCATGAGCCCTGAAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCAT
ATGGGCGATCCGCCACCCAGCCAGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTCTTCATTTGTGAATACATAGCCTTTCCAGGTTGTGGTCGGCCTCAGATTCCCATCC
TTGCTGTGATCTGGAGAGATGAGCCTTACCCGAGGACAGATGAACAGATTATCCTCAGAAGATGAGGACATATCCAAGACAACTACACCTTTGCCCAACCTGGGATTCAAATGAAAGTGAAAATGTTA
GAAGAACTCGTGAGCCGGATTGATGAGCAAGTGCACCGGCACCTGGACCAACACGAAGTGAGATACCTGCAGTTTGCCTTCCGCTGGATGAACAACCTGCTGATGAGGGAGGTGCCCCTGCGTTGTAC
CATCCGCCTGTGGGACACCTACCAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGAGCTGC
TGCTCTTCCTCCAGAACCTGCCCACAGCCCACTGGGATGATGAGGACATCAGCCTGTTGCTGGCCGAGGCCTACCGCCTCAAGTTTGCTTTTGCCGACGCCCCCAATCACTACAAGAAATGAGCCCAG
GCCCACCCGCAGCTGGCCTCACTGTCCCGGGTGGCGCGCCCCACCTGCCTGGCTGGTGGTAGGCCCCTGTGAGCTGGTCCCGGGCTGCTAAAAGGCCTTGTGAGGTGGCCCCACCCTCCAGGGGAGCT
GGTGAAGATGGGCCACAGACCTGGTCTAGGGCTGACAAAGACAGGGACAGCCTTTGTTTTCTGAGATACCAAAGAGAGCCAGGGGAGGGCCCCGGGTTCGGCGGCCAGAGGCAGGTCAGGGGTCCCCT
CTCCCTCTCCCTGCAATGTCCTTGCCAAATGACTGCCTCCTGCTGCCCCTAGTCCGGGGCAGCCTAGGAGGCCGACCCTCTTTGGAGTCCTGCTGTCTGGGTGCCAGGGCCGGAACGAGGTAGTGGCC
ATCTCATACCTACTCTGAAATGCAAAACTTCTATTCTGTTGAGTGAAAGAATAAAATGTAGACAAAATCTAGACCGAGACGTTGCGCTGACCCGGGGTCTCTGTGCCGCGAGGTCCCCTCACAGCTGT
ATTTCACTGCTGCTGGCCCTTTCCCTCCGTGTGTTTTCCTGCTTGCTTGGTTTAAACGTGGCTGGGAAGCTGAAGGCTGGAGTCCAAGCCGTGAGCCCGCCGAGTGCCTGGGAGGCCGTGGGACCAAA
GGCTGGGAGCAGAGGGAGGCCTCGCCATCGCCTTACTTTCCACCTTGAACCTCTTTTACAAGAGAGAAACCCCCACCTCCCTGAGGTCCAGGGCCAAGTGGCCCCGCCACGCAGGTAGGCGCCGGCCT
CAGCCAGAGCCCCTGGAGGCCCACCCAGGCTGTCGGGCCATGTTGGGCTGGCAGACGGGCAGGGGGTCGCGTCCCTGTCATCAAAGCCCTGAACCACAGTGCTCTTCTCACCGCAGCCTGGAAGCGGA
ATGAGCTTTTGGAGACTTCCTGGGACTTGCTGTCCTTGTCCAGGTCTGCCAGGTGTAGGGGAGGTGTGACTGGTTCCATCATGGACCGGTTCCTCCATGGACCGGTTCCTCCGTGGACCGGTTCCGCC
ATGGACCGGTTCCGCCATGGACCACTCCTGCCCTGGACCACTCCTGCCCTGGACCGGTTCTGCCGTGGACTGGTTCCCGCCGTGGACCAGTTCCCGCTGTATACTGGTTCTGCCCTGGACTGGTTCCC
GCTGTGGACTGGTTCCTTGGGGCTCTAAGTGCGGAAGGGCCCAGAGCTGGTCCCTGCCCAGCGCCCTGCTAGGGCTGTGTCCTTGGCTCCAGGGGCCTTGGGACTGGCTTCCCAGCGTTCCCTCGGTG
TGTCACAGGCTGCATGACCCCTGGAATGCGGGCAGGGCCACAGCCACAGTCTGTCTGATCCCTGAGCCCAGGACAGGCTCACGTCCTCAGCGACCCACTGGTGACTGACTTCCCAGACTCTCCTCTGT
CCCTCAGGAGCAGCCGTGTCCTCTCCCAGGCCCTAGGACACTGCCAGAGACTGTGGGACATACAGGCATAAGTGATGTGTGTGTTTCTGCTTCTGTTTTAAAAATCCAGGGTCATTACACACAGCATG
GAAATTAGCACAAAATGCTGTGCAAACGTCAGATGCTCCCAAACCAGCAAAGGGATGGGCTTGCTTCACATCAGATGCGGGCACGCCTTACCCCTGCCTTCCGTGTCCCCACCCCAGGGTCAAGGGTT
CCTCAGACCAGCCATGCCTCCTCCTCCTGCCGCCTCCTTTTCTAGATGGGGAGGGGATTCCGTCACAAGAAGAGCCGCCCCTCGGCCGTGTGCAGGAAGCCCCATGTCGCTTTGCCGAGATCAGCCCT
GGGAGGATCCCCTTCTCCAGCTCAGATCATGCCGTGTGGCCAGAAGGCTGCGGACACAACTGACCTGCTTCTCGAGGTGGTTGATGTTTTAAACAGGAAGCTCCACGGAGTTCAGCCCTGTGTGCATT
TCCTCATGTATGTAAACGCCAAGACTGAATGTGAGAGGTGTTGGCCGCGGGCCTTAAGTCTGAGCAGATCCATCTGGAATGTTCGGGGTGTGCTGTCTGGATGTGGTGCGCTAAAAACACGGAATAAA
GATCAGTGACAAAGCCGCG

hide sequence

RefSeq Acc Id:

XM_011530100 ⟹ XP_011528402

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 47,111,603 (+)	NCBI

Sequence:

show sequence

ACAACTTCCGGAAGGAGGCGGAAGAGCTTCTCGGCTCTAGGCTCTGGAGTCCCGGGAGCAGTGA
GGGGCCACCCGGGGCACAGGAAAGGGCCGCTAGGGGAGGGCCGGGTGCACTCGGGGTGTCTGGGCCGCGGGTCTGAGGGATGAGGAGGGGCCATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAG
CGCAGCAACAGCAAGCTCCCGGGCAGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTGATCCACTGTTACATGGCACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGC
CAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGCTGGGGAGGACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGG
CCAACCGTGTGCTGCGTAACCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGGGCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTG
GTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAAAGTGCCAGCGATGCCGCCCCTCTGCAGAGGTCCCAGTCTCTCCCACACTCGGCCACCGTCACGCTGGGTGGCACATCTGACCCCAG
CACTCTCAGCAGCTCAGCGCTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTGCTTGCCGGCCCCAACACGGACCTTGAGGAATTACGGAGGTTGAGCTGGTCCGGAATCCCTAAGC
CAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAGACCAGCCACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGG
AACGACGAAGTTCACCAGGACACATACAGGCAGATCCACATAGACATCCCTCGCATGAGCCCTGAAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGAT
CCGCCACCCAGCCAGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTCTTCATTTGTGAATACATAGAGGCAGAGGAGGTGGACACGGTGGACGTCTCCGGCGTGCCCGCAG
AGGTGCTGTGCAACATCGAGGCCGACACCTACTGGTGCATGAGCAAGCTGCTGGATGGCATTCAGGACAACTACACCTTTGCCCAACCTGGGATTCAAATGAAAGTGAAAATGTTAGAAGAACTCGTG
AGCCGGATTGATGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGAT

hide sequence

RefSeq Acc Id:

XM_011530101 ⟹ XP_011528403

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 46,976,200 (+)	NCBI

Sequence:

show sequence

ACAACTTCCGGAAGGAGGCGGAAGAGCTTCTCGGCTCTAGGCTCTGGAGTCCCGGGAGCAGTGAGGGGCCACCCGGGGCACAGGAAAGGGCCGCTAGGGGAGGGCCGGGTGCACTCGGGGTGTCTGGG
CCGCGGGTCTGAGGGATGAGGAGGGGCCATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAGCGCAGCAACAGCAAGCTCCCGGGCAGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTG
ATCCACTGTTACATGGCACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGCCAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGCTGGGGAG
GACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGGCCAACCGTGTGCTGCGTAACCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGG
GCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTGGTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAAAGTGCCAGCGATGCCGCCCCTC
TGCAGAGGTCCCAGTCTCTCCCACACTCGGCCACCGTCACGCTGGGTGGCACATCTGACCCCAGCACTCTCAGCAGCTCAGCGCTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTG
CTTGCCGGCCCCAACACGGACCTTGAGGAATTACGGAGGTTGAGCTGGTCCGGAATCCCTAAGCCAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAGACC
AGCCACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGGAACGACGAAGTTCACCAGGACACATACAGGCAGATCCACATAGACATCCCTCGCATGAGCCCTG
AAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGATCCGCCACCCAGCCAGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTC
TTCATTTGTGAATACATAGAGGCAGAGGAGGTGGACACGGTGGACGTCTCCGGCGTGCCCGCAGAGGTGCTGTGCAACATCGAGGCCGACACCTACTGGTGCATGAGCAAGCTGCTGGATGGCATTCA
GGAATGAAAAAGGAGAAAGTAGAAGCCTGTTGTGCGGTTGGAGAATGGAAACCTCGTATCTATTGGCTGGTCCAGACTCCTCGTGACTTACTTTGTTCCTTGCAAAGAAAAATGTGCCCACTAGAGAT
ATATTTTGGCCCAAGCACCAATTTGTCATTTCCCCTCCTTTACTAATATTTTCATACATTTTATTCTTTCTGCTAGATCTTTCGGCTTTTTGCCCCCTTAGAAAAAGGATTGAATCATAATGTAAAAC
TTTATAAATTTCAAATGTCGCTTCTCTGATGGTGAGTGATGGGACTTGTGCCATTTAAATACAAGATTATCTGCCCTCTATTTGTAAATAAAATCTGCTGTACAATGAAATCGATGCTGGCTTTTTCA
TTTTTCACCTGAGATTTGTGGTCTGATGCAATGGTTTATTGGCAGGGCCGATGAGTGTGAGGGATCATGCTTTCCTGGCGCGTGTGTTTATAGCACATCACCGTCCCGTGGCAGCCGTTGATCTTCTC
TCACGTGCCACGATGGATTCCACATGATCCTCCCAGGAGCAAGAGTTGAGGGATGTCAGTTCCCACCATCCAGGGGACTTGGCAGCTCAGCTGTGATTCCTGTAGATAAGGCCGTCCGAGCAGAGCTC
CTCTAGCGACTAGTGTTTACAAGCACTGCCGCTGTTTTAAGTTCAGAGAAGTATGAGGCTATGTACTCACTTAAAACCACGGCAACACGCAGACCGGCGTGTCAGCTCCCGGACGACCTGGCCGCTTC
TGCCTCTTAGCTCCTTTTCCTACTCTTGGTCTTACTGTCTCCATTTCATTCTTTTGGAACTGCTCGAACCATCTTCCTTAAGCACCCTCTTCACCACATCATCGCCCTGATTGAAACCCTTGGGGAAG
CTCTCTCTTGGTTTTCTGAAGTGCAGGCTCTCAGCCCGGCCTCCACCAGTTGTTCCCAGCGTTCTTTCAAGGGCGTGTTTGTTCATCGGCTCTGTGGCAGCCGTCCACGCCGTTGCTGCAGAGGCTTT
ATTGGAGCCGCTGAGCCAGAACTGTGTGCTGGGGGCTCTTCCTCACCAGGAAGAGGGTCTTCAAGGGCCTCCTAGCCCCACAGTTTCTGTGATTGGTAGGCAGTCCCCATGGGAATGAATGTGAGGAA
CTAACATTGTCTTCGCCGTGACGGTGCTTCTTGGCGTGGGCATTCCCGGGACAGGTTGGAGCTCGGTTACACCCAGCACACAAGGCTGAGACTAAGAGAGATGAAGCCCATTGCCCAGGTGACGTGGC
TTGTATTAAAACCCACGTTGACGGCTCTGGGATCTTTCCTAGCTGAAATACATAGAAGTGAGTCCCATTTGCAGGGAAGTTCTAGAGGGCAGAAACCACATCTATTTTTTTTACCTTTGGATGTCCTG
GATGGTCATAACTATGTTTTTGGCTCACTTTGGAGCCTCAATTTGAGATTCCGTATTCTACTTGTTTTCAGTAATTAGTTAACTTTGTCATTTTGGCCGAGATGTATGAAGCACCTGCCTTCTCTCTG
CAGGTGCTCAGAGAGGCGGAAGACTTTGGGGTGAGTCAGCATCACCCCTCTGTCCCCAAGAAGCTCAGAGCCTGGTGGGATGGAGCAGGGGGAGTGGACAGCTGATGGAGGCGAGGACAGAATGCTGG
GAGAGGAGGCTCTTAGCCCCCAGTAAGATGGCAAACTAGGAAAAAGAACAAACCACTTTTCTCCCGACAAATCCCTGGAAACGTTAGGTGATTGGTCTGTTCTCGCACTGCTTAAAGAAGTGCCTGAG
ACTGGGTAATTTATAGAGAAAGAGGTTTAATTAGCTCACAGTTCCACAAGCTGTACAGGAATCATAGCTGAGGAGGCTTCAGGAAACTTTCAATTATGGCAGAAAGTGAAGTGGAAGCTGGTGTGTCG
TACAGGGCTGGAGGTGGAGGGAGGGGTTGGGGGAGGTGCCACACACTTTTAAACAACCAGATCTCATGACCCAGCGACGCAGCGCTAGCAGGGATGGTGCTAACCCATTAGAAACCGCCCCCAGGATC
CGGTCACCTCCAGCCAGGCCACGCCTCCAGCACAGGGGATTACAATTCAACATGAGATTTGGGTGGGGACACAGATCCAAACCGTATTAGCGGTATTGACCAAAGATTGTTTAACACGCATTGTGGGA
CTCCTTAACAGCAAAGAGAGGTCCTCCAGGAGCGAACAGCGCTGACTCCACTGGCTGGAGGGAATTGTCAGGCCAGCTCATGGCTAGGAGTGCAGGCTCTCCTGCCCTGGCGAGGTGTGATCACAGAA
GCCAGTCCTGCTCAGGGAGATCAGGTGCTGCCCAGAGCAGGGACACGGGCTCTGCCATTGACATGCCCAGGCCTGTGTGCCTTGGGACTCTGCACTACAAACATTATTGAAGAGCTTGAAGAGCTTTT
GTTTGTGTGGGTTAATTCTCTTGATAACTGCCATGTTGGAAATTCAAATAGAGAAAATTAAAAATATTTAGTAATTTATTTAACAACAACAATGAAAATCCCATTACATATTATTATAAGTAACATTT
TTATGATAGATTACTATTTTTCGAAACAAAAATGTTTAGTGAGAAGAAAGGCATTGTTTTACATTTTTGTAAATCT

hide sequence

RefSeq Acc Id:

XM_011530102 ⟹ XP_011528404

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 47,111,597 (+)	NCBI

Sequence:

show sequence

ACAACTTCCGGAAGGAGGCGGAAGAGCTTCTCGGCTCTAGGCTCTGGAGTCCCGGGAGCAGTGAGGGGCCACCCGGGGCACAGGAAAGGGCCGCTAGGGGAGGGCCGGGTGCACTCGGGGTGTCTGGG
CCGCGGGTCTGAGGGATGAGGAGGGGCCATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAGCGCAGCAACAGCAAGCTCCCGGGCAGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTG
ATCCACTGTTACATGGCACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGCCAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGCTGGGGAG
GACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGGCCAACCGTGTGCTGCGTAACCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGG
GCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTGGTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAAAGTGCCAGCGATGCCGCCCCTC
TGCAGAGGTCCCAGTCTCTCCCACACTCGGCCACCGTCACGCTGGGTGGCACATCTGACCCCAGCACTCTCAGCAGCTCAGCGCTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTG
CTTGCCGGCCCCAACACGGACCTTGAGGAATTACGGAGGTTGAGCTGGTCCGGAATCCCTAAGCCAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAGACC
AGCCACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGGAACGACGAAGTTCACCAGGACACATACAGGCAGATCCACATAGACATCCCTCGCATGAGCCCTG
AAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGATCCGCCACCCAGCCAGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTC
TTCATTTGTGAATACATAGGACAACTACACCTTTGCCCAACCTGGGATTCAAATGAAAGTGAAAATGTTAGAAGAACTCGTGAGCCGGATTGATGTCTGAACCGGACGGCTTTTCTCATTTCCACTTG
TACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGAT

hide sequence

RefSeq Acc Id:

XM_017028742 ⟹ XP_016884231

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 47,175,693 (+)	NCBI

Sequence:

show sequence

ACAACTTCCGGAAGGAGGCGGAAGAGCTTCTCGGCTCTAGGCTCTGGAGTCCCGGGAGCAGTGA
GGGGCCACCCGGGGCACAGGAAAGGGCCGCTAGGGGAGGGCCGGGTGCACTCGGGGTGTCTGGGCCGCGGGTCTGAGGGATGAGGAGGGGCCATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAG
CGCAGCAACAGCAAGCTCCCGGGCAGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTGATCCACTGTTACATGGCACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGC
CAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGCTGGGGAGGACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGG
CCAACCGTGTGCTGCGTAACCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGGGCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTG
GTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAAAGTGCCAGCGATGCCGCCCCTCTGCAGAGGTCCCAGTCTCTCCCACACTCGGCCACCGTCACGCTGGGTGGCACATCTGACCCCAG
CACTCTCAGCAGCTCAGCGCTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTGCTTGCCGGCCCCAACACGGACCTTGAGGAATTACGGAGGTTGAGCTGGTCCGGAATCCCTAAGC
CAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAGACCAGCCACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGG
AACGACGAAGTTCACCAGGACACATACAGGCAGATCCACATAGACATCCCTCGCATGAGCCCTGAAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGAT
CCGCCACCCAGCCAGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTCTTCATTTGTGAATACATAGAGGCAGAGGAGGTGGACACGGTGGACGTCTCCGGCGTGCCCGCAG
AGGTGCTGTGCAACATCGAGGCCGACACCTACTGGTGCATGAGCAAGCTGCTGGATGGCATTCAGACTGGTCTTGAACTCCTGGGCTCAAGCGAGCTGCCCATGTTGGCCTCCCAAAGTGCTGGGATT
ACAGATGTGCGCCACCGCGCCCGGCCGCAAAATGACAACTACACCTTTGCCCAACCTGGGATTCAAATGAAAGTGAAAATGTTAGAAGAACTCGTGAGCCGGATTGATGAGCAAGTGCACCGGCACCT
GGACCAACACGAAGTGAGATACCTGCAGTTTGCCTTCCGCTGGATGAACAACCTGCTGATGAGGGAGGTGCCCCTGCGTTGTACCATCCGCCTGTGGGACACCTACCAGTCTGAACCGGACGGCTTTT
CTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGAGCTGCTGCTCTTCCTCCAGAACCTGCCCACAGCCCACTGGGATGATGAG
GACATCAGCCTGTTGCTGGCCGAGGCCTACCGCCTCAAGTTTGCTTTTGCCGACGCCCCCAATCACTACAAGAAATGAGCCCAGGCCCACCCGCAGCTGGCCTCACTGTCCCGGGTGGCGCGCCCCAC
CTGCCTGGCTGGTGGTAGGCCCCTGTGAGCTGGTCCCGGGCTGCTAAAAGGCCTTGTGAGGTGGCCCCACCCTCCAGGGGAGCTGGTGAAGATGGGCCACAGACCTGGTCTAGGGCTGACAAAGACAG
GGACAGCCTTTGTTTTCTGAGATACCAAAGAGAGCCAGGGGAGGGCCCCGGGTTCGGCGGCCAGAGGCAGGTCAGGGGTCCCCTCTCCCTCTCCCTGCAATGTCCTTGCCAAATGACTGCCTCGTGCT
GCCCCTAGTCCGGGGCAGCCTAGGAGGCCGACCCTCTTTGGAGTCCTGCTGTCTGGGTGCCAGGGCCGGAACGAGGTAGTGGCCATCTCATACCTACTCTGAAATGCAAAACTTCTATTCTGTTGAGT
GAAAGAATAAAATGTAGACAAAATCTAGACCGAGACGTTGCGCTGACCCGGGGTCTCTGTGCCGCGAGGTCCCCTCACAGCTGTATTTCACTGCTGCTGGCCCTTTCCCTCCGTGTGTTTTCCTGCTT
GCTTGGTTTAAACGTGGCTGGGAAGCTGAAGGCTGGAGTCCAAGCCGTGAGCCCGCCGAGTGCCTGGGAGGCCGTGGGACCAAAGGCTGGGAGCAGAGGGAGGCCTCGCCATCGCCTTACTTTCCACC
TTGAACCTCTTTTACAAGAGAGAAACCCCCACCTCCCTGAGGTCCAGGGCCAAGTGGCCCCGCCACGCAGGTAGGCGCCGGCCTCAGCCAGAGCCCCTGGAGGCCCACCCAGGCTGTCGGGCCATGTT
GGGCTGGCAGACGGGCAGGGGGTCGCGTCCCTGTCATCAAAGCCCTGAACCACAGTGCTCTTCTCACCGCAGCCTGGAAGCGGAATGAGCTTTTGGAGACTTCCTGGGACTTGCTGTCCTTGTCCAGG
TCTGCCAGGTGTAGGGGAGGTGTGACTGGTTCCATCATGGACCGGTTCCTCCATGGACCGGTTCCTCCGTGGACCGGTTCCGCCATGGACCGGTTCCGCCATGGACCACTCCTGCCCTGGACCACTCC
TGCCCTGGACCGGTTCTGCCGTGGACTGGTTCCCGCCGTGGACCAGTTCCCGCTGTATACTGGTTCTGCCCTGGACTGGTTCCCGCTGTGGACTGGTTCCTTGGGGCTCTAAGTGCGGAAGGGCCCAG
AGCTGGTCCCTGCCCAGCGCCCTGCTAGGGCTGTGTCCTTGGCTCCAGGGGCCTTGGGACTGGCTTCCCAGCGTTCCCTCGGTGTGTCACAGGCTGCATGACCCCTGGAATGCGGGCAGGGCCACAGC
CACAGTCTGTCTGATCCCTGAGCCCAGGACAGGCTCACGTCCTCAGCGACCCACTGGTGACTGACTTCCCAGACTCTCCTCTGTCCCTCAGGAGCAGCCGTGTCCTCTCCCAGGCCCTAGGACACTGC
CAGAGACTGTGGGACATACAGGCATAAGTGATGTGTGTGTTTCTGCTTCTGTTTTAAAAATCCAGGGTCATTACACACAGCATGGAAATTAGCACAAAATGCTGTGCAAACGTCAGATGCTCCCAAAC
CAGCAAAGGGATGGGCTTGCTTCACATCAGATGCGGGCACGCCTTACCCCTGCCTTCCGTGTCCCCACCCCAGGGTCAAGGGTTCCTCAGACCAGCCATGCCTCCTCCTCCTGCCGCCTCCTTTTCTA
GATGGGGAGGGGATTCCGTCACAAGAAGAGCCGCCCCTCGGCCGTGTGCAGGAAGCCCCATGTCGCTTTGCCGAGATCAGCCCTGGGAGGATCCCCTTCTCCAGCTCAGATCATGCCGTGTGGCCAGA
AGGCTGCGGACACAACTGACCTGCTTCTCGAGGTGGTTGATGTTTTAAACAGGAAGCTCCACGGAGTTCAGCCCTGTGTGCATTTCCTCATGTATGTAAACGCCAAGACTGAATGTGAGAGGTGTTGG
CCGCGGGCCTTAAGTCTGAGCAGATCCATCTGGAATGTTCGGGGTGTGCTGTCTGGATGTGGTGCGCTAAAAACACGGAATAAAGATCAGTGACAAAG

hide sequence

RefSeq Acc Id:

XM_017028743 ⟹ XP_016884232

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 47,118,314 (+)	NCBI

Sequence:

show sequence

ACAACTTCCGGAAGGAGGCGGAAGAGCTTCTCGGCTCTAGGCTCTGGAGTCCCGGGAGCAGTGAGGGGCCACCCGGGGCACAGGAAAGGGCCGCTAGGGGAGGGCCGGGTGCACTCGGGGTGTCTGGG
CCGCGGGTCTGAGGGATGAGGAGGGGCCATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAGCGCAGCAACAGCAAGCTCCCGGGCAGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTG
ATCCACTGTTACATGGCACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGCCAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGCTGGGGAG
GACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGGCCAACCGTGTGCTGCGTAACCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGG
GCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTGGTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAAAGTGCCAGCGATGCCGCCCCTC
TGCAGAGGTCCCAGTCTCTCCCACACTCGGCCACCGTCACGCTGGGTGGCACATCTGACCCCAGCACTCTCAGCAGCTCAGCGCTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTG
CTTGCCGGCCCCAACACGGACCTTGAGGAATTACGGAGGTTGAGCTGGTCCGGAATCCCTAAGCCAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAGACC
AGCCACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGGAACGACGAAGTTCACCAGGACACATACAGGCAGATCCACATAGACATCCCTCGCATGAGCCCTG
AAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGATCCGCCACCCAGCCAGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTC
TTCATTTGTGAATACATAGAGGCAGAGGAGGTGGACACGGTGGACGTCTCCGGCGTGCCCGCAGAGGTGCTGTGCAACATCGAGGCCGACACCTACTGGTGCATGAGCAAGCTGCTGGATGGCATTCA
GGACAACTACACCTTTGCCCAACCTGGGATTCAAATGAAAGTGAAAATGTTAGAAGAACTCGTGAGCCGGATTGATGAGCAAGTGCACCGGCACCTGGACCAACACGAAGTGAGATACCTGCAGTTTG
CCTTCCGCTGGATGAACAACCTGCTGATGAGGGAGGTGCCCCTGCGTTGTACCATCCGCCTGTGGGACACCTACCAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTT
CTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAAAATCACCCTGGGCCCCACTCTGGGCAGACTCTAAGCCACACATATGCGAGGAATGGACCCTGAGCACATTCTGGTTGGGGAG
AGAGAACAGTAAAGAAATGATTGACCTTCAGCAAAAGGCTGTGCCTCCATTGACGACTCCATTTCTTCTGTCTGCTCCCAAATAGGGACAGTGTCACAAGGTGGCTCGAGGCAGACCAGACACACACT
GGCCGTGGGAGCTTGTGGGCGGGGTTTCTTCCTGTTGTGAATACGTGCAGAAGTGTCACTCCGGCCCTGGAGGCTGAAGCAGGCCATGAGCCCCTCAGGGTGAAGGACAGGAGATAGGGACAGCTGTG
GATGCCAGGGTACCTG

hide sequence

RefSeq Acc Id:

XM_017028746 ⟹ XP_016884235

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 46,989,072 (+)	NCBI

Sequence:

show sequence

ACAACTTCCGGAAGGAGGCGGAAGAGCTTCTCGGCTCTAGGCTCTGGAGTCCCGGGAGCAGTGA
GGGGCCACCCGGGGCACAGGAAAGGGCCGCTAGGGGAGGGCCGGGTGCACTCGGGGTGTCTGGGCCGCGGGTCTGAGGGATGAGGAGGGGCCATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAG
CGCAGCAACAGCAAGCTCCCGGGCAGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTGATCCACTGTTACATGGCACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGC
CAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGCTGGGGAGGACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGG
CCAACCGTGTGCTGCGTAACCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGGGCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTG
GTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAAAGTGCCAGCGATGCCGCCCCTCTGCAGAGGTCCCAGTCTCTCCCACACTCGGCCACCGTCACGCTGGGTGGCACATCTGACCCCAG
CACTCTCAGCAGCTCAGCGCTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTGCTTGCCGGCCCCAACACGGACCTTGAGGAATTACGGAGGTTGAGCTGGTCCGGAATCCCTAAGC
CAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAGACCAGCCACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGG
AACGACGAAGTTCACCAGGACACATACAGGCAGATCCACATAGACATCCCTCGCATGAGCCCTGAAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGAT
CCGCCACCCAGCCAGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTCTTCATTTGTGAATACATAGAGGCAGAGGAGGTGGACACGGTGGACGTCTCCGGCGTGCCCGCAG
AGGTGCTGTGCAACATCGAGGCCGACACCTACTGGTGCATGAGCAAGCTGCTGGATGGCATTCAGCTGAAGAATGTGAAGAAAATCCAGCATTACATAGATACATAGTTGGAAAAGGAAGCGTGTTTT
TTGTTTGTTTGTTTGTTTGTTTTTTGGAGATGAAGTCTC

hide sequence

RefSeq Acc Id:

XM_017028747 ⟹ XP_016884236

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 46,932,012 (+)	NCBI

Sequence:

show sequence

ACAACTTCCGGAAGGAGGCGGAAGAGCTTCTCGGCTCTAGGCTCTGGAGTCCCGGGAGCAGTGA
GGGGCCACCCGGGGCACAGGAAAGGGCCGCTAGGGGAGGGCCGGGTGCACTCGGGGTGTCTGGGCCGCGGGTCTGAGGGATGAGGAGGGGCCATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAG
CGCAGCAACAGCAAGCTCCCGGGCAGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTGATCCACTGTTACATGGCACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGC
CAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGCTGGGGAGGACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGG
CCAACCGTGTGCTGCGTAACCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGGGCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTG
GTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAAAGTGCCAGCGATGCCGCCCCTCTGCAGAGGTCCCAGTCTCTCCCACACTCGGCCACCGTCACGCTGGGTGGCACATCTGACCCCAG
CACTCTCAGCAGCTCAGCGCTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTGCTTGCCGGCCCCAACACGGACCTTGAGGAATTACGGAGGTTGAGCTGGTCCGGAATCCCTAAGC
CAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAGACCAGCCACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGG
AACGACGAAGTTCACCAGGACACATACAGGCAGATCCACATAGACATCCCTCGCATGAGCCCTGAAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGAT
CCGCCACCCAGCCAGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTCTTCATTTGTGAATACATAGATGTACTTCATTCATGGATAGATGCTTTAGTATTCACACGCAAGG
CTGCTTCCACATGGGCACGAGCTCAAAGATGCTAAGTGACTCAGTGAATTGAGGAGCCAGGAGCAATTAATACACTCTCCAGTACTGACATGTGAGTTTTCAACCTCAAGGTACCTTATTCAACTGGC
CTGATTAGAAAGTCAGCAAAGACAAGGGTGTGTGTGTGTGTGTGCGTGTGCGTGTGTGCATGCATGTATGTGCATGCATGCACATGTGTGGTAAAACAACAATTGAACAATTGGATTGGAATCCGTGG
ACTGCAGGCCTCGTGCTTAGAGTGTGCTAGTGTGGGAGAAGCAAGCATGTGCCCAACGGTCCCCTGGACCTGGTGTGCTGGGAACTTTCCACACAGAACTCTGCTCCTCAGCCCCTATGTGTGTGTGG
ACCCCTTTGGGAGGCAGCAGTAGAGAGCTCAGTTTGGGCCATTTTATGGAAATGCAGTGCCTGAGTCAGCATCTTGCAAGTCCCTGATGTACTTTATGCAGAGGACGATGTTAGCATTCCTTGTAAAC
AATGATGTGGAACCTGTATATTGTCATAAGCTCCCCAAGCAGAAGGTCAGCCCTTTCTTTGGCCTTGAGCCTGTCTTTGGGACCTTGCTGTCCGTTTTCTTGATTCCTGGCTCCTTCTCACTGTCTCC
CCCATCAGACCACGCCGGCCTGCAGTCTGCTCCTGTGTTACCAATACACTGGTTTTGGTGAAGCATTTTGTATATTGTATTATAGTATCTGACATTTATTGAGTTTTCACTCCAGGCCAAGTGTTATA
TGTGTGTGGTGGTGGATAGGTTGGGTTAGGTTTTAAAGTGAAATTGTGGGGAGTCAAAATTACCCTCATAGTCCCTGAAGTCAGTAGGACTTGGGAACTCTGATACTCAACATCCAAGAATTAACCTG
TTTTTTTTCCTTGCATTTATTTATTTACTTATTTAGACGGAGTCTCGCTCTGTCACC

hide sequence

RefSeq Acc Id:

XM_047441306 ⟹ XP_047297262

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 47,118,314 (+)	NCBI

RefSeq Acc Id:

XM_047441307 ⟹ XP_047297263

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 47,111,597 (+)	NCBI

RefSeq Acc Id:

XM_047441308 ⟹ XP_047297264

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 47,037,114 (+)	NCBI

RefSeq Acc Id:

XM_047441309 ⟹ XP_047297265

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 47,037,114 (+)	NCBI

RefSeq Acc Id:

XM_054325465 ⟹ XP_054181440

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	47,250,621 - 47,603,161 (+)	NCBI

RefSeq Acc Id:

XM_054325466 ⟹ XP_054181441

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	47,250,621 - 47,665,611 (+)	NCBI

RefSeq Acc Id:

XM_054325467 ⟹ XP_054181442

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	47,250,621 - 47,603,155 (+)	NCBI

RefSeq Acc Id:

XM_054325468 ⟹ XP_054181443

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	47,250,621 - 47,600,879 (+)	NCBI

RefSeq Acc Id:

XM_054325469 ⟹ XP_054181444

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	47,250,621 - 47,600,885 (+)	NCBI

RefSeq Acc Id:

XM_054325470 ⟹ XP_054181445

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	47,250,621 - 47,478,355 (+)	NCBI

RefSeq Acc Id:

XM_054325471 ⟹ XP_054181446

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	47,250,621 - 47,467,810 (+)	NCBI

RefSeq Acc Id:

XM_054325472 ⟹ XP_054181447

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	47,250,621 - 47,403,041 (+)	NCBI

RefSeq Acc Id:

XM_054325473 ⟹ XP_054181448

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	47,250,621 - 47,427,124 (+)	NCBI

RefSeq Acc Id:

XM_054325474 ⟹ XP_054181449

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	47,250,621 - 47,526,399 (+)	NCBI

RefSeq Acc Id:

XM_054325475 ⟹ XP_054181450

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	47,250,621 - 47,600,879 (+)	NCBI

RefSeq Acc Id:

XM_054325476 ⟹ XP_054181451

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	47,250,621 - 47,526,399 (+)	NCBI

RefSeq Acc Id:

XR_007067970

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 46,927,366 (+)	NCBI

RefSeq Acc Id:

XR_007067971

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,650 - 46,932,012 (+)	NCBI

RefSeq Acc Id:

XR_008485383

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	47,250,621 - 47,427,079 (+)	NCBI


Protein RefSeqs	NP_001271232	(Get FASTA)	NCBI Sequence Viewer
	NP_001271233	(Get FASTA)	NCBI Sequence Viewer
	NP_001271234	(Get FASTA)	NCBI Sequence Viewer
	NP_001397732	(Get FASTA)	NCBI Sequence Viewer
	NP_055161	(Get FASTA)	NCBI Sequence Viewer
	XP_011528402	(Get FASTA)	NCBI Sequence Viewer
	XP_011528403	(Get FASTA)	NCBI Sequence Viewer
	XP_011528404	(Get FASTA)	NCBI Sequence Viewer
	XP_016884231	(Get FASTA)	NCBI Sequence Viewer
	XP_016884232	(Get FASTA)	NCBI Sequence Viewer
	XP_016884235	(Get FASTA)	NCBI Sequence Viewer
	XP_016884236	(Get FASTA)	NCBI Sequence Viewer
	XP_047297262	(Get FASTA)	NCBI Sequence Viewer
	XP_047297263	(Get FASTA)	NCBI Sequence Viewer
	XP_047297264	(Get FASTA)	NCBI Sequence Viewer
	XP_047297265	(Get FASTA)	NCBI Sequence Viewer
	XP_054181440	(Get FASTA)	NCBI Sequence Viewer
	XP_054181441	(Get FASTA)	NCBI Sequence Viewer
	XP_054181442	(Get FASTA)	NCBI Sequence Viewer
	XP_054181443	(Get FASTA)	NCBI Sequence Viewer
	XP_054181444	(Get FASTA)	NCBI Sequence Viewer
	XP_054181445	(Get FASTA)	NCBI Sequence Viewer
	XP_054181446	(Get FASTA)	NCBI Sequence Viewer
	XP_054181447	(Get FASTA)	NCBI Sequence Viewer
	XP_054181448	(Get FASTA)	NCBI Sequence Viewer
	XP_054181449	(Get FASTA)	NCBI Sequence Viewer
	XP_054181450	(Get FASTA)	NCBI Sequence Viewer
	XP_054181451	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD12228	(Get FASTA)	NCBI Sequence Viewer
	AAH01292	(Get FASTA)	NCBI Sequence Viewer
	AAH02743	(Get FASTA)	NCBI Sequence Viewer
	AAH20976	(Get FASTA)	NCBI Sequence Viewer
	AAH29897	(Get FASTA)	NCBI Sequence Viewer
	BAC86253	(Get FASTA)	NCBI Sequence Viewer
	BAG38127	(Get FASTA)	NCBI Sequence Viewer
	BAG51541	(Get FASTA)	NCBI Sequence Viewer
	BAG54543	(Get FASTA)	NCBI Sequence Viewer
	BAG62971	(Get FASTA)	NCBI Sequence Viewer
	BAH16651	(Get FASTA)	NCBI Sequence Viewer
	CAB46628	(Get FASTA)	NCBI Sequence Viewer
	CAG30298	(Get FASTA)	NCBI Sequence Viewer
	EAW73443	(Get FASTA)	NCBI Sequence Viewer
	EAW73444	(Get FASTA)	NCBI Sequence Viewer
	EAW73445	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000336724
	ENSP00000336724.4
	ENSP00000347932
	ENSP00000347932.3
	ENSP00000370383
	ENSP00000384036
	ENSP00000385634
	ENSP00000385634.1
	ENSP00000406214.1
GenBank Protein	Q8WUA7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_055161 ⟸ NM_014346
- Peptide Label:	isoform a
- UniProtKB:	Q9UH25 (UniProtKB/Swiss-Prot), Q9UGU6 (UniProtKB/Swiss-Prot), Q9UGT2 (UniProtKB/Swiss-Prot), Q9UGG0 (UniProtKB/Swiss-Prot), Q9BVD6 (UniProtKB/Swiss-Prot), Q92680 (UniProtKB/Swiss-Prot), Q6ZUH2 (UniProtKB/Swiss-Prot), Q5TE47 (UniProtKB/Swiss-Prot), B9A6M3 (UniProtKB/Swiss-Prot), B0QYI3 (UniProtKB/Swiss-Prot), B0QYI2 (UniProtKB/Swiss-Prot), Q9Y4W5 (UniProtKB/Swiss-Prot), Q8WUA7 (UniProtKB/Swiss-Prot), B2RE30 (UniProtKB/TrEMBL), B3KP29 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEA EPPSPPSGDLRLVKSVSESHTSCPAESASDAAPLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKE YFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPG IQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPDGFSHFHLYVCAAFLVRWRKEILEEKDFQELLLFLQNLPTAHWDDEDISLLLAEAYRLKFAFADAP NHYKK hide sequence

RefSeq Acc Id:	NP_001271233 ⟸ NM_001284304
- Peptide Label:	isoform c
- UniProtKB:	A0A0A0MRY0 (UniProtKB/TrEMBL), B2RE30 (UniProtKB/TrEMBL), B3KP29 (UniProtKB/TrEMBL)
- Sequence:	show sequence MWEPQPDVGSLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLAMAAESLNSEVV METANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAAPLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSG IPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSG VPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPDGFSHFHLYVCAAFLVRWRKEILEEKDFQELL LFLQNLPTAHWDDEDISLLLAEAYRLKFAFADAPNHYKK hide sequence

RefSeq Acc Id:	NP_001271232 ⟸ NM_001284303
- Peptide Label:	isoform b
- UniProtKB:	B3KP29 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASDGARKQFWKRSNSKLPGSLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLA MAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAEELRRLSWSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKEYFAFIEHYYDSRND EVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSR IDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPDGFSHFHLYVCAAFLVRWRKEILEEKDFQELLLFLQNLPTAHWDDEDISLLLAEAYRLKFAFADAPNHYKK hide sequence

RefSeq Acc Id:	NP_001271234 ⟸ NM_001284305
- Peptide Label:	isoform d
- UniProtKB:	B2RE30 (UniProtKB/TrEMBL), B3KP29 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAAPLQRSQSLPHSATVT LGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFE RILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVP LRCTIRLWDTYQSEPDGFSHFHLYVCAAFLVRWRKEILEEKDFQELLLFLQNLPTAHWDDEDISLLLAEAYRLKFAFADAPNHYKK hide sequence

RefSeq Acc Id:

XP_011528402 ⟸ XM_011530100

- Peptide Label:

isoform X5

- Sequence:

show sequence

MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEA
EPPSPPSGDLRLVKSVSESHTSCPAESASDAAPLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKE
YFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPG
IQMKVKMLEELVSRIDV

hide sequence

Protein Domains

Rab-GAP TBC

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8WUA7-F1-model_v2	AlphaFold	Q8WUA7	1-517	view protein structure

RGD ID:

6799850

Promoter ID:

HG_KWN:43279

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:

ENST00000355704, ENST00000380995, OTTHUMT00000317600, OTTHUMT00000317928, OTTHUMT00000317930, OTTHUMT00000317931, OTTHUMT00000317932, OTTHUMT00000317933, UC003BIC.1, UC003BID.1, UC010HAF.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	45,536,936 - 45,537,807 (+)	MPROMDB

RGD ID:

6812181

Promoter ID:

HG_ACW:52490

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

BYTOR.AAPR07-UNSPLICED, TBC1D22A.FAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	45,543,851 - 45,544,351 (+)	MPROMDB

RGD ID:

6800403

Promoter ID:

HG_KWN:43280

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, K562, Lymphoblastoid

Transcripts:

ENST00000406733

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	45,547,746 - 45,548,927 (+)	MPROMDB

RGD ID:

13604476

Promoter ID:

EPDNEW_H28422

Type:

initiation region

Name:

TBC1D22A_1

Description:

TBC1 domain family member 22A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H28414

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	46,762,660 - 46,762,720	EPDNEW

Database	Acc Id	Source(s)
COSMIC	TBC1D22A	COSMIC
Ensembl Genes	ENSG00000054611	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000337137	ENTREZGENE
	ENST00000337137.9	UniProtKB/Swiss-Prot
	ENST00000355704	ENTREZGENE
	ENST00000355704.7	UniProtKB/Swiss-Prot
	ENST00000380995	ENTREZGENE
	ENST00000406733	ENTREZGENE
	ENST00000406733.1	UniProtKB/Swiss-Prot
	ENST00000407381	ENTREZGENE
	ENST00000441162.5	UniProtKB/Swiss-Prot
Gene3D-CATH	putative rabgap domain of human tbc1 domain family member 14 like domains	UniProtKB/Swiss-Prot
	Ypt/Rab-GAP domain of gyp1p, domain 3	UniProtKB/Swiss-Prot
GTEx	ENSG00000054611	GTEx
HGNC ID	HGNC:1309	ENTREZGENE
Human Proteome Map	TBC1D22A	Human Proteome Map
InterPro	Rab-GTPase-TBC_dom	UniProtKB/Swiss-Prot
	Rab-GTPase_TBC_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:25771	UniProtKB/Swiss-Prot
NCBI Gene	25771	ENTREZGENE
OMIM	616879	OMIM
PANTHER	TBC1 DOMAIN FAMILY MEMBER 22A	UniProtKB/Swiss-Prot
	TBC1 DOMAIN FAMILY MEMBER GTPASE-ACTIVATING PROTEIN	UniProtKB/Swiss-Prot
Pfam	RabGAP-TBC	UniProtKB/Swiss-Prot
PharmGKB	PA25888	PharmGKB
PROSITE	TBC_RABGAP	UniProtKB/Swiss-Prot
SMART	TBC	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF47923	UniProtKB/Swiss-Prot
UniProt	A0A0A0MRY0	ENTREZGENE, UniProtKB/TrEMBL
	B0QYI1	ENTREZGENE, UniProtKB/TrEMBL
	B0QYI2	ENTREZGENE
	B0QYI3	ENTREZGENE
	B2RE30	ENTREZGENE, UniProtKB/TrEMBL
	B3KP29	ENTREZGENE, UniProtKB/TrEMBL
	B9A6M3	ENTREZGENE
	F8WBF7_HUMAN	UniProtKB/TrEMBL
	F8WDP1_HUMAN	UniProtKB/TrEMBL
	Q5TE47	ENTREZGENE
	Q6ZUH2	ENTREZGENE
	Q8WUA7	ENTREZGENE
	Q92680	ENTREZGENE
	Q9BVD6	ENTREZGENE
	Q9UGG0	ENTREZGENE
	Q9UGT2	ENTREZGENE
	Q9UGU6	ENTREZGENE
	Q9UH25	ENTREZGENE
	Q9Y4W5	ENTREZGENE
	TB22A_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B0QYI2	UniProtKB/Swiss-Prot
	B0QYI3	UniProtKB/Swiss-Prot
	B9A6M3	UniProtKB/Swiss-Prot
	Q5TE47	UniProtKB/Swiss-Prot
	Q6ZUH2	UniProtKB/Swiss-Prot
	Q92680	UniProtKB/Swiss-Prot
	Q9BVD6	UniProtKB/Swiss-Prot
	Q9UGG0	UniProtKB/Swiss-Prot
	Q9UGT2	UniProtKB/Swiss-Prot
	Q9UGU6	UniProtKB/Swiss-Prot
	Q9UH25	UniProtKB/Swiss-Prot
	Q9Y4W5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	TBC1D22A	TBC1 domain family member 22A		TBC1 domain family, member 22A	Symbol and/or name change	5135510	APPROVED

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar