RHOT1 (ras homolog family member T1)

Gene: RHOT1 (ras homolog family member T1) Homo sapiens

Analyze

Symbol:

RHOT1

Name:

ras homolog family member T1

RGD ID:

1315969

HGNC Page

HGNC:21168

Description:

Predicted to enable GTP binding activity and GTPase activity. Involved in several processes, including mitochondrial outer membrane permeabilization; mitochondrion transport along microtubule; and regulation of mitochondrion organization. Located in mitochondrial outer membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

ARHT1; FLJ11040; FLJ12633; hMiro-1; MIRO-1; MIRO1; mitochondrial Rho (MIRO) GTPase 1; mitochondrial Rho 1; mitochondrial Rho GTPase 1; rac-GTP binding protein-like protein; rac-GTP-binding protein-like protein; ras homolog gene family, member T1

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):	Rhot1 (ras homolog family member T1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Rhot1 (ras homolog family member T1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Rhot1 (ras homolog family member T1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	RHOT1 (ras homolog family member T1)	NCBI	Ortholog
Canis lupus familiaris (dog):	RHOT1 (ras homolog family member T1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Rhot1 (ras homolog family member T1)	NCBI	Ortholog
Sus scrofa (pig):	RHOT1 (ras homolog family member T1)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	RHOT1 (ras homolog family member T1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Rhot1 (ras homolog family member T1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Rhot2 (ras homolog family member T2)	HGNC	OrthoDB, OrthoMCL
Rattus norvegicus (Norway rat):	Rhot2 (ras homolog family member T2)	HGNC	OrthoDB
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Rhot1 (ras homolog family member T1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Rhot1 (ras homolog family member T1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	rhot1b (ras homolog family member T1)	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB\|ZFIN)
Danio rerio (zebrafish):	rhot1a (ras homolog family member T1a)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	GEM1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Miro	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	miro-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	rhot1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER)
Xenopus laevis (African clawed frog):	rhot1.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	rhot1.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

RHOT1P1 RHOT1P2 RHOT1P3

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	17	32,142,502 - 32,225,727 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	32,142,454 - 32,253,374 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	30,469,521 - 30,552,746 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	27,493,586 - 27,576,859 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	27,493,761 - 27,560,869	NCBI
Celera	17	27,380,006 - 27,463,684 (+)	NCBI		Celera
Cytogenetic Map	17	q11.2	NCBI
HuRef	17	26,657,489 - 26,740,675 (+)	NCBI		HuRef
CHM1_1	17	30,531,938 - 30,615,232 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	33,088,266 - 33,171,497 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

motor neuron disease (ISS)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

2-methylcholine (EXP)

4,4'-diaminodiphenylmethane (ISO)

afimoxifene (EXP)

aristolochic acid A (EXP)

Aroclor 1254 (ISO)

arsenous acid (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

butanal (EXP)

choline (ISO)

cobalt dichloride (EXP)

copper atom (ISO)

copper(0) (ISO)

copper(II) sulfate (EXP)

coumestrol (EXP)

crocidolite asbestos (ISO)

cyclosporin A (EXP)

diarsenic trioxide (EXP)

doxorubicin (EXP)

Enterolactone (EXP)

ethanol (ISO)

folic acid (ISO)

formaldehyde (EXP)

fulvestrant (EXP)

gentamycin (ISO)

hydrogen sulfide (ISO)

ivermectin (EXP)

L-methionine (ISO)

paracetamol (EXP)

perfluorooctane-1-sulfonic acid (ISO)

pirinixic acid (ISO)

quercetin (EXP)

resveratrol (ISO)

sodium fluoride (ISO)

sunitinib (EXP)

triptonide (ISO)

uranium atom (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular homeostasis (IMP)

establishment of mitochondrion localization by microtubule attachment (ISO)

mitochondrial outer membrane permeabilization (IMP)

mitochondrion organization (IBA,IEA)

mitochondrion transport along microtubule (IBA,IMP)

regulation of mitochondrion organization (IMP)

regulation of neurotransmitter secretion (ISO)

regulation of organelle transport along microtubule (ISO)

small GTPase-mediated signal transduction (IEA)

Cellular Component

membrane (HDA,IEA)

mitochondrial outer membrane (IBA,IDA,IEA,TAS)

mitochondrion (IEA,NAS)

Molecular Function

calcium ion binding (IEA)

GTP binding (IBA,IEA)

GTPase activity (IBA,IEA)

hydrolase activity (IEA)

metal ion binding (IEA)

molecular_function (ND)

nucleotide binding (IEA)

protein binding (IPI,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

mitochondria transport pathway (TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	Regulation of mitochondrial transport in neurons.	Lin MY and Sheng ZH, Exp Cell Res. 2015 May 15;334(1):35-44. doi: 10.1016/j.yexcr.2015.01.004. Epub 2015 Jan 19.
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11076863	PMID:11230166	PMID:12477932	PMID:12482879	PMID:14521508	PMID:14702039	PMID:15146197	PMID:15489334	PMID:15489336	PMID:16381901	PMID:16630562	PMID:17110338
PMID:19098100	PMID:19103291	PMID:19135897	PMID:19528298	PMID:19946888	PMID:20379614	PMID:20877624	PMID:21343306	PMID:21873635	PMID:21903422	PMID:22078885	PMID:22396657
PMID:22658674	PMID:22810586	PMID:22860091	PMID:23060438	PMID:23085658	PMID:23251661	PMID:23455922	PMID:23503661	PMID:24092329	PMID:24256248	PMID:24492963	PMID:24647965
PMID:24671417	PMID:24995978	PMID:25921289	PMID:25969509	PMID:26116755	PMID:26186194	PMID:26254304	PMID:26259702	PMID:26658612	PMID:27025967	PMID:27432908	PMID:27499296
PMID:27605430	PMID:27618216	PMID:27716788	PMID:28380382	PMID:28414322	PMID:28514442	PMID:28534518	PMID:28689991	PMID:28710279	PMID:28973175	PMID:28986522	PMID:29222186
PMID:29562677	PMID:29676259	PMID:29725250	PMID:29955894	PMID:30111583	PMID:30444423	PMID:30446597	PMID:30504269	PMID:30513825	PMID:31091453	PMID:31303019	PMID:31324186
PMID:31586073	PMID:31753913	PMID:32056317	PMID:32280985	PMID:32707033	PMID:32807901	PMID:32877691	PMID:32948353	PMID:33132189	PMID:33567341	PMID:33686957	PMID:33961781
PMID:34079125	PMID:34406978	PMID:34431132	PMID:34709727	PMID:34732716	PMID:35140242	PMID:35170374	PMID:35271311	PMID:35509820	PMID:36114006	PMID:36215168	PMID:36634849
PMID:37827155	PMID:37949220	PMID:38378644

Genomics

Comparative Map Data

RHOT1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	32,142,502 - 32,225,727 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	32,142,454 - 32,253,374 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	30,469,521 - 30,552,746 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	27,493,586 - 27,576,859 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	27,493,761 - 27,560,869	NCBI
Celera	17	27,380,006 - 27,463,684 (+)	NCBI		Celera
Cytogenetic Map	17	q11.2	NCBI
HuRef	17	26,657,489 - 26,740,675 (+)	NCBI		HuRef
CHM1_1	17	30,531,938 - 30,615,232 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	33,088,266 - 33,171,497 (+)	NCBI		T2T-CHM13v2.0

Rhot1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	80,099,844 - 80,158,736 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	80,099,845 - 80,158,733 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	80,208,610 - 80,267,907 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	80,209,019 - 80,267,907 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	80,022,557 - 80,081,409 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	80,025,279 - 80,083,681 (+)	NCBI		MGSCv36	mm8
Celera	11	89,845,510 - 89,904,362 (+)	NCBI		Celera
Cytogenetic Map	11	B5	NCBI
cM Map	11	47.62	NCBI

Rhot1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	65,685,687 - 65,760,682 (+)	NCBI		GRCr8
mRatBN7.2	10	65,198,700 - 65,262,807 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	65,170,560 - 65,262,804 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	69,827,575 - 69,891,263 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	69,332,879 - 69,396,564 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	64,796,754 - 64,860,391 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	67,559,277 - 67,640,622 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	67,532,030 - 67,640,555 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	67,216,636 - 67,297,347 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	68,423,410 - 68,488,313 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	68,437,002 - 68,502,001 (+)	NCBI
Celera	10	64,160,374 - 64,223,357 (+)	NCBI		Celera
Cytogenetic Map	10	q25-q26	NCBI

Rhot1
(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_004955481	7,149,241 - 7,199,296 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955481	7,149,836 - 7,199,296 (+)	NCBI	ChiLan1.0	ChiLan1.0

RHOT1
(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	19	32,204,125 - 32,314,978 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	34,084,079 - 34,194,387 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	24,523,047 - 24,633,559 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	24,837,093 - 24,917,304 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	24,837,093 - 24,917,310 (-)	Ensembl	panpan1.1		panPan2

RHOT1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	40,715,713 - 40,779,551 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	40,715,941 - 40,779,400 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	39,874,695 - 39,938,319 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	41,532,523 - 41,596,217 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	41,532,525 - 41,596,190 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	40,318,018 - 40,381,819 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	40,612,413 - 40,676,074 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	40,687,227 - 40,750,891 (-)	NCBI		UU_Cfam_GSD_1.0

Rhot1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405602	39,780,322 - 39,847,949 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936538	2,658,172 - 2,726,092 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936538	2,658,225 - 2,725,889 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RHOT1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	42,711,233 - 42,783,421 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	42,711,231 - 42,783,471 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	44,443,398 - 44,515,571 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RHOT1
(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	16	25,720,640 - 25,798,954 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	25,750,224 - 25,799,286 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666075	4,223,088 - 4,335,457 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rhot1
(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 1.0	NW_004624875	242,550 - 311,871 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in RHOT1
18 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	copy number loss	See cases [RCV000143027]	Chr17:28947825..32490020 [GRCh38] Chr17:27274843..30817038 [GRCh37] Chr17:24298969..27841151 [NCBI36] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	copy number gain	not provided [RCV000762776]	Chr17:25403446..31685464 [GRCh37] Chr17:17q11.1-11.2	likely pathogenic
GRCh37/hg19 17q11.2(chr17:29782998-30651260)x1	copy number loss	See cases [RCV000240147]	Chr17:29782998..30651260 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:30131154-30594822)x1	copy number loss	See cases [RCV000448285]	Chr17:30131154..30594822 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2-12(chr17:30497948-31819040)x1	copy number loss	See cases [RCV000447945]	Chr17:30497948..31819040 [GRCh37] Chr17:17q11.2-12	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q11.2-12(chr17:29578241-32142196)x1	copy number loss	See cases [RCV000511107]	Chr17:29578241..32142196 [GRCh37] Chr17:17q11.2-12	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	copy number loss	Mitogen-activated protein kinase kinase inhibitor response [RCV000626439]	Chr17:25248166..30645676 [GRCh37] Chr17:17q11.1-11.2	drug response
GRCh37/hg19 17q11.2(chr17:30484937-31108798)x3	copy number gain	not provided [RCV000683916]	Chr17:30484937..31108798 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_001033566.3(RHOT1):c.1862+29G>A	single nucleotide variant	not provided [RCV000845067]	Chr17:32211267 [GRCh38] Chr17:30538286 [GRCh37] Chr17:17q11.2	not provided
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	copy number gain	not provided [RCV000846852]	Chr17:21690653..38772647 [GRCh37] Chr17:17p11.2-q21.2	pathogenic
GRCh37/hg19 17q11.2(chr17:30443761-30620270)x3	copy number gain	not provided [RCV000847922]	Chr17:30443761..30620270 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:30306459-30537745)x3	copy number gain	not provided [RCV001006892]	Chr17:30306459..30537745 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)	copy number loss	Nanophthalmos 4 [RCV001260292]	Chr17:29989741..32355632 [GRCh37] Chr17:17q11.2-12	pathogenic
GRCh37/hg19 17q11.2-12(chr17:30497948-31819040)	copy number loss	not specified [RCV002052592]	Chr17:30497948..31819040 [GRCh37] Chr17:17q11.2-12	uncertain significance
NM_001033566.3(RHOT1):c.1691C>G (p.Ala564Gly)	single nucleotide variant	Inborn genetic diseases [RCV003306264]	Chr17:32208261 [GRCh38] Chr17:30535280 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001033566.3(RHOT1):c.1739+1112T>A	single nucleotide variant	Inborn genetic diseases [RCV002907011]	Chr17:32209421 [GRCh38] Chr17:30536440 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001033566.3(RHOT1):c.1553G>A (p.Ser518Asn)	single nucleotide variant	Inborn genetic diseases [RCV002776689]	Chr17:32208123 [GRCh38] Chr17:30535142 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001033566.3(RHOT1):c.692A>G (p.Asn231Ser)	single nucleotide variant	Inborn genetic diseases [RCV002749864]	Chr17:32193188 [GRCh38] Chr17:30520207 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001033566.3(RHOT1):c.1387T>C (p.Tyr463His)	single nucleotide variant	Inborn genetic diseases [RCV002797498]	Chr17:32203944 [GRCh38] Chr17:30530963 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001033566.3(RHOT1):c.571C>T (p.Arg191Cys)	single nucleotide variant	Inborn genetic diseases [RCV002789757]	Chr17:32192231 [GRCh38] Chr17:30519250 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001033566.3(RHOT1):c.729C>A (p.Asp243Glu)	single nucleotide variant	Inborn genetic diseases [RCV002965924]	Chr17:32193225 [GRCh38] Chr17:30520244 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001033566.3(RHOT1):c.1976G>A (p.Arg659Gln)	single nucleotide variant	Inborn genetic diseases [RCV002959493]	Chr17:32224729 [GRCh38] Chr17:30551748 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001033566.3(RHOT1):c.1766C>T (p.Thr589Ile)	single nucleotide variant	Inborn genetic diseases [RCV002722292]	Chr17:32211142 [GRCh38] Chr17:30538161 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001033566.3(RHOT1):c.1739+1063C>T	single nucleotide variant	Inborn genetic diseases [RCV002680214]	Chr17:32209372 [GRCh38] Chr17:30536391 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001033566.3(RHOT1):c.1010C>T (p.Pro337Leu)	single nucleotide variant	Inborn genetic diseases [RCV003378595]	Chr17:32199460 [GRCh38] Chr17:30526479 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001033566.3(RHOT1):c.317A>G (p.Asp106Gly)	single nucleotide variant	Inborn genetic diseases [RCV003342721]	Chr17:32176201 [GRCh38] Chr17:30503220 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001033566.3(RHOT1):c.1294A>G (p.Ser432Gly)	single nucleotide variant	Inborn genetic diseases [RCV003383897]	Chr17:32202862 [GRCh38] Chr17:30529881 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	copy number loss	not provided [RCV003483317]	Chr17:28387597..30812008 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	copy number gain	not specified [RCV003987238]	Chr17:29305509..31246638 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	copy number loss	not specified [RCV003987216]	Chr17:28277040..30903559 [GRCh37] Chr17:17q11.2	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	5417
Count of miRNA genes:	1133
Interacting mature miRNAs:	1413
Transcripts:	ENST00000333942, ENST00000354266, ENST00000358365, ENST00000394692, ENST00000545287, ENST00000578205, ENST00000580392, ENST00000580976, ENST00000581031, ENST00000581094, ENST00000581148, ENST00000581567, ENST00000582586, ENST00000582602, ENST00000583994, ENST00000584692, ENST00000584852
Prediction methods:	Microtar, Miranda, Pita, Pita,Targetscan, 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.

Markers in Region

SHGC-31220

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	30,536,271 - 30,536,420	UniSTS	GRCh37
Build 36	17	27,560,384 - 27,560,533	RGD	NCBI36
Celera	17	27,447,138 - 27,447,287	RGD
Cytogenetic Map	17	q11.2	UniSTS
HuRef	17	26,724,212 - 26,724,361	UniSTS
GeneMap99-G3 RH Map	17	1738.0	UniSTS

SHGC-81439

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	30,537,686 - 30,537,984	UniSTS	GRCh37
Build 36	17	27,561,799 - 27,562,097	RGD	NCBI36
Celera	17	27,448,553 - 27,448,851	RGD
Cytogenetic Map	17	q11.2	UniSTS
HuRef	17	26,725,627 - 26,725,925	UniSTS
TNG Radiation Hybrid Map	17	38179.0	UniSTS

D17S1416E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	30,552,297 - 30,552,391	UniSTS	GRCh37
Build 36	17	27,576,410 - 27,576,504	RGD	NCBI36
Celera	17	27,463,235 - 27,463,329	RGD
Cytogenetic Map	17	q11.2	UniSTS
HuRef	17	26,740,226 - 26,740,320	UniSTS

SHGC-147776

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	30,528,274 - 30,528,566	UniSTS	GRCh37
Build 36	17	27,552,387 - 27,552,679	RGD	NCBI36
Celera	17	27,439,141 - 27,439,433	RGD
Cytogenetic Map	17	q11.2	UniSTS
HuRef	17	26,716,227 - 26,716,519	UniSTS
TNG Radiation Hybrid Map	17	38202.0	UniSTS

A009V48

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	30,546,627 - 30,546,740	UniSTS	GRCh37
Build 36	17	27,570,740 - 27,570,853	RGD	NCBI36
Celera	17	27,457,565 - 27,457,678	RGD
Cytogenetic Map	17	q11.2	UniSTS
HuRef	17	26,734,554 - 26,734,667	UniSTS
GeneMap99-GB4 RH Map	17	280.88	UniSTS

G65642

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	30,536,250 - 30,536,548	UniSTS	GRCh37
Build 36	17	27,560,363 - 27,560,661	RGD	NCBI36
Celera	17	27,447,117 - 27,447,415	RGD
Cytogenetic Map	17	q11.2	UniSTS
HuRef	17	26,724,191 - 26,724,489	UniSTS

SHGC-32151

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	30,552,306 - 30,552,455	UniSTS	GRCh37
Build 36	17	27,576,419 - 27,576,568	RGD	NCBI36
Celera	17	27,463,244 - 27,463,393	RGD
Cytogenetic Map	17	q11.2	UniSTS
HuRef	17	26,740,235 - 26,740,384	UniSTS
GeneMap99-GB4 RH Map	17	280.88	UniSTS
Whitehead-RH Map	17	306.1	UniSTS
GeneMap99-G3 RH Map	17	2541.0	UniSTS

RH17565

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	30,546,578 - 30,546,832	UniSTS	GRCh37
Build 36	17	27,570,691 - 27,570,945	RGD	NCBI36
Celera	17	27,457,516 - 27,457,770	RGD
Cytogenetic Map	17	q11.2	UniSTS
HuRef	17	26,734,505 - 26,734,759	UniSTS
GeneMap99-GB4 RH Map	17	280.88	UniSTS

Cda0nc06

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	30,552,297 - 30,552,390	UniSTS	GRCh37
Build 36	17	27,576,410 - 27,576,503	RGD	NCBI36
Celera	17	27,463,235 - 27,463,328	RGD
Cytogenetic Map	17	q11.2	UniSTS
HuRef	17	26,740,226 - 26,740,319	UniSTS
GeneMap99-GB4 RH Map	17	277.21	UniSTS

D1S3690

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	1	p33	UniSTS
Cytogenetic Map	12	q15	UniSTS
Cytogenetic Map	1	q25	UniSTS
Cytogenetic Map	6	q25.1	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	3	p25	UniSTS
Cytogenetic Map	10	q25.3	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	3	q28-q29	UniSTS
Cytogenetic Map	13	q22.2	UniSTS
Cytogenetic Map	12	q13.1	UniSTS
Cytogenetic Map	22	q11.2	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	1	p36.22	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
Cytogenetic Map	9	q33	UniSTS

G32899

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	30,546,627 - 30,546,740	UniSTS	GRCh37
Celera	17	27,457,565 - 27,457,678	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
HuRef	17	26,734,554 - 26,734,667	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

1963

1935

1323

219

1368

107

3963

1422

2854

271

1283

1578

126

1077

2423

Low

476

1053

403

405

582

358

394

773

880

148

177

127

365

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001033566	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001033567	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001033568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288754	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288755	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_018307	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_110083	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011524969	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011524971	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011524973	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011524975	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011524976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017024819	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017024820	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017024821	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017024822	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017024823	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017024824	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017024825	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024450827	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436354	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436355	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436356	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436357	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436358	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436359	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436360	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436361	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436362	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436363	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436364	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316613	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316615	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316616	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316617	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316618	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316619	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316620	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316621	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316622	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316623	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316624	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316625	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316626	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001752554	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001752555	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001752556	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_934499	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA772711	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC026620	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC116407	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ496730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ517412	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001902	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022695	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294407	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL117543	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL136929	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY094972	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015698	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC029029	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC041114	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC051818	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC060781	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC068463	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC092401	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC110895	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC125104	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC125105	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN352790	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584025	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000333942 ⟹ ENSP00000334724

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,142,454 - 32,225,770 (+)	Ensembl

RefSeq Acc Id:

ENST00000354266 ⟹ ENSP00000346215

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,142,560 - 32,225,666 (+)	Ensembl

RefSeq Acc Id:

ENST00000358365 ⟹ ENSP00000351132

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,142,466 - 32,225,727 (+)	Ensembl

RefSeq Acc Id:

ENST00000394692 ⟹ ENSP00000378184

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,142,680 - 32,225,727 (+)	Ensembl

RefSeq Acc Id:

ENST00000545287 ⟹ ENSP00000439737

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,142,502 - 32,225,727 (+)	Ensembl

RefSeq Acc Id:

ENST00000578205 ⟹ ENSP00000462612

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,142,673 - 32,225,503 (+)	Ensembl

RefSeq Acc Id:

ENST00000580392 ⟹ ENSP00000463532

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,203,937 - 32,253,374 (+)	Ensembl

RefSeq Acc Id:

ENST00000580976

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,142,677 - 32,199,504 (+)	Ensembl

RefSeq Acc Id:

ENST00000581031 ⟹ ENSP00000464094

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,142,568 - 32,225,503 (+)	Ensembl

RefSeq Acc Id:

ENST00000581094 ⟹ ENSP00000462669

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,142,630 - 32,209,738 (+)	Ensembl

RefSeq Acc Id:

ENST00000581148 ⟹ ENSP00000467272

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,206,925 - 32,211,435 (+)	Ensembl

RefSeq Acc Id:

ENST00000581567

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,203,860 - 32,207,541 (+)	Ensembl

RefSeq Acc Id:

ENST00000582586

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,209,388 - 32,242,162 (+)	Ensembl

RefSeq Acc Id:

ENST00000582602 ⟹ ENSP00000464851

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,202,824 - 32,211,195 (+)	Ensembl

RefSeq Acc Id:

ENST00000583994 ⟹ ENSP00000462698

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,142,475 - 32,225,727 (+)	Ensembl

RefSeq Acc Id:

ENST00000584692 ⟹ ENSP00000464674

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,206,950 - 32,224,960 (+)	Ensembl

RefSeq Acc Id:

ENST00000584852 ⟹ ENSP00000461992

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,208,302 - 32,253,374 (+)	Ensembl

RefSeq Acc Id:

ENST00000646284 ⟹ ENSP00000494075

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,211,116 - 32,225,727 (+)	Ensembl

RefSeq Acc Id:

ENST00000652713 ⟹ ENSP00000498380

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	32,208,148 - 32,224,920 (+)	Ensembl

RefSeq Acc Id:

NM_001033566 ⟹ NP_001028738

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,142,502 - 32,225,727 (+)	NCBI
GRCh37	17	30,469,473 - 30,552,746 (+)	RGD
Build 36	17	27,493,586 - 27,576,859 (+)	NCBI Archive
Celera	17	27,380,006 - 27,463,684 (+)	RGD
HuRef	17	26,657,489 - 26,740,719 (+)	NCBI
CHM1_1	17	30,531,938 - 30,615,276 (+)	NCBI
T2T-CHM13v2.0	17	33,088,266 - 33,171,497 (+)	NCBI

Sequence:

show sequence

ACAGCCCGCTGGGCCGGAGGAGGCGGAGCTGGCGCTGTCCCGGCTCTCTTGCGGGGAAGCAACT
GAGGGGGCGGCGCGGCGGGCCCCGGCGGCCGAAGAGGCTGGCAGGTGGCGCCGTGGGGTGGGTG
CTCCTGGTGAGAGGAGTCCACTCCGTGCGTGCGGGCGGAGGCCGGCCCCCGAGAGCCGCCGACA
TGAAGAAAGACGTGCGGATCCTGCTGGTGGGAGAACCTAGAGTTGGGAAGACATCACTGATTAT
GTCTCTGGTCAGTGAAGAATTTCCAGAAGAGGTTCCTCCCCGGGCAGAAGAAATCACCATTCCA
GCTGATGTCACCCCAGAGAGAGTTCCAACACACATTGTAGATTACTCAGAAGCAGAACAGAGTG
ATGAACAACTTCATCAAGAAATATCTCAGGCTAATGTCATCTGTATAGTGTATGCCGTTAACAA
CAAGCATTCTATTGATAAGGTAACAAGTCGATGGATTCCTCTCATAAATGAAAGAACAGACAAA
GACAGCAGGCTGCCTTTAATATTGGTTGGGAACAAATCTGATCTGGTGGAATATAGTAGTATGG
AGACCATCCTTCCTATTATGAACCAGTATACAGAAATAGAAACCTGTGTGGAGTGTTCAGCGAA
AAACCTGAAGAACATATCAGAGCTCTTTTATTACGCACAGAAAGCTGTTCTTCATCCTACAGGG
CCCCTGTACTGCCCAGAGGAGAAGGAGATGAAACCAGCTTGTATAAAAGCCCTTACTCGTATAT
TTAAAATATCTGATCAAGATAATGATGGTACTCTCAATGATGCTGAACTCAACTTCTTTCAGAG
GATTTGTTTCAACACTCCATTAGCTCCTCAAGCTCTGGAGGATGTCAAGAATGTAGTCAGAAAA
CATATAAGTGATGGTGTGGCTGACAGTGGGTTGACCCTGAAAGGTTTTCTCTTTTTACACACAC
TTTTTATCCAGAGAGGGAGACACGAAACTACTTGGACTGTGCTTCGACGATTTGGTTATGATGA
TGACCTGGATTTGACACCTGAATATTTGTTCCCCCTGCTGAAAATACCTCCTGATTGCACTACT
GAATTAAATCATCATGCATATTTATTTCTCCAAAGCACCTTTGACAAGCATGATTTGGATAGAG
ACTGTGCTTTGTCACCTGATGAGCTTAAAGATTTATTTAAAGTTTTCCCTTACATACCTTGGGG
GCCAGATGTGAATAACACAGTTTGTACCAATGAAAGAGGCTGGATAACCTACCAGGGATTCCTT
TCCCAGTGGACGCTCACGACTTATTTAGATGTACAGCGGTGCCTGGAATATTTGGGCTATCTAG
GCTATTCAATATTGACTGAGCAAGAGTCTCAAGCTTCAGCTGTTACAGTGACAAGAGATAAAAA
GATAGACCTGCAGAAAAAACAAACTCAAAGAAATGTGTTCAGATGTAATGTAATTGGAGTGAAA
AACTGTGGGAAAAGTGGAGTTCTTCAGGCTCTTCTTGGAAGAAACTTAATGAGGCAGAAGAAAA
TTCGTGAAGATCATAAATCCTACTATGCGATTAACACTGTTTATGTATATGGACAAGAGAAATA
CTTGTTGTTGCATGATATCTCAGAATCGGAATTTCTAACTGAAGCTGAAATCATTTGTGATGTT
GTATGCCTGGTATATGATGTCAGCAATCCCAAATCCTTTGAATACTGTGCCAGGATTTTTAAGC
AACACTTTATGGACAGCAGAATACCTTGCTTAATCGTAGCTGCAAAGTCAGACCTGCATGAAGT
TAAACAAGAATACAGTATTTCACCTACTGATTTCTGCAGGAAACACAAAATGCCTCCACCACAA
GCCTTCACTTGCAATACTGCTGATGCCCCCAGTAAGGATATCTTTGTTAAATTGACAACAATGG
CCATGTATCCCCATGCCCGGTTACGCTGTATGTGCACCTGCAACAGGTGTACATTTTGCATCTG
TCAGAACTTCCTCAACTCAGACTTGCTGCAATCTGTAAAGAACAAAATCTTCACTGCAGTTCTT
AACAGGCACGTGACACAAGCTGACCTCAAGAGCTCCACGTTTTGGCTTCGAGCAAGTTTTGGTG
CTACTGTTTTTGCAGTTTTGGGCTTTGCTATGTACAAAGCATTATTGAAACAGCGATGATATAA
AAAGAAATACTGTCCCTACCAAAAACAAATACTTTTATGTACATTCTGAATGCTTTAAGTTCTG
CTAGAATTATTGAGATATTTATACATGCAGAGTTACTTTATTAATATTTGTAATTCATGCATAA
GAGTATTTTAATGATAGTTATAACTGCAGTATTGGCTAGCATATGGAAAGAAAACAGCTAACAG
CCAAACTAAAATGGCTAAATTCCAGAGGCCAAAAGGGAATATTTTGTAAATATATGTACATATT
CAGGCAAGATATGGTCTCCCAAGCTGAGTTCTAGAAATGATGTTTCTAGACATTTCTAAGTGGT
ATTGTTAGTGCTCACTTGGCTCACTCTTCTAGGTTTAAGTTAGCCCAGAGATTGTATTTACTCA
TGGATCACTTTATTTATTTCACATTTACTCAGAATGATCCTTTGGGTTCTATAAGGACATAAGG
TACAATTTGCCATTGTCTCTCCATTTTTAAAAACATACAAGTCAGTGTCAGCTTACCAACATGA
CATTTTTTCAGTCAGTTGTGGTAGGCCAGCCTTGAAGCCATCGCACAGTCTAGAAACTTGTGTA
GCTGAGTGTGCAGCTCACCTTTAAGGGTGAAGTTAGGTAAAAGCAATTAGCAGAGGCGTTATCT
ATGTGATTATGTTGCTTCCTTGTCAGTATGTTGAATTTTATAGCCCTTTCAATGAAATAAAAAA
AAAATTTGTATATTACCAATGTTTTTAGTTTAAATAAAGAGTCACCCTTACTACTGTTGAATTT
CATCCCAAGTGTAAATCATTCTATAATGGCTGTGTCTGTTATAGTATATTACAGTAACTGCATG
TGTCACCAAGTGTTCTATATCAGGCTAGGATAACCTAGAGGCAGTAATTTTTTAAATGATAAAA
TAAATCTAATGAATATAAACTCTCATGATAAACCTATTTTTTCCATCATCAGCCTTTTCAAGTA
TTTAAATAAATAACTGCTGTGTACTGTGA

hide sequence

RefSeq Acc Id:

NM_001033567 ⟹ NP_001028739

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,142,502 - 32,225,727 (+)	NCBI
HuRef	17	26,657,489 - 26,740,719 (+)	NCBI
CHM1_1	17	30,531,938 - 30,615,276 (+)	NCBI
T2T-CHM13v2.0	17	33,088,266 - 33,171,497 (+)	NCBI

Sequence:

show sequence

ACAGCCCGCTGGGCCGGAGGAGGCGGAGCTGGCGCTGTCCCGGCTCTCTTGCGGGGAAGCAACT
GAGGGGGCGGCGCGGCGGGCCCCGGCGGCCGAAGAGGCTGGCAGGTGGCGCCGTGGGGTGGGTG
CTCCTGGTGAGAGGAGTCCACTCCGTGCGTGCGGGCGGAGGCCGGCCCCCGAGAGCCGCCGACA
TGAAGAAAGACGTGCGGATCCTGCTGGTGGGAGAACCTAGAGTTGGGAAGACATCACTGATTAT
GTCTCTGGTCAGTGAAGAATTTCCAGAAGAGATTGTTGTGGATTTAAATACCTCCTCATTTGCA
GAGTATCTTCAGCCTTCAACAAAATAGAATGAAAACAACATATTTAAAAAATCTAACACCGAAA
CACCAAATTAATCCAAGAATCCACTGAGTTCCTCCCCGGGCAGAAGAAATCACCATTCCAGCTG
ATGTCACCCCAGAGAGAGTTCCAACACACATTGTAGATTACTCAGAAGCAGAACAGAGTGATGA
ACAACTTCATCAAGAAATATCTCAGGCTAATGTCATCTGTATAGTGTATGCCGTTAACAACAAG
CATTCTATTGATAAGGTAACAAGTCGATGGATTCCTCTCATAAATGAAAGAACAGACAAAGACA
GCAGGCTGCCTTTAATATTGGTTGGGAACAAATCTGATCTGGTGGAATATAGTAGTATGGAGAC
CATCCTTCCTATTATGAACCAGTATACAGAAATAGAAACCTGTGTGGAGTGTTCAGCGAAAAAC
CTGAAGAACATATCAGAGCTCTTTTATTACGCACAGAAAGCTGTTCTTCATCCTACAGGGCCCC
TGTACTGCCCAGAGGAGAAGGAGATGAAACCAGCTTGTATAAAAGCCCTTACTCGTATATTTAA
AATATCTGATCAAGATAATGATGGTACTCTCAATGATGCTGAACTCAACTTCTTTCAGAGGATT
TGTTTCAACACTCCATTAGCTCCTCAAGCTCTGGAGGATGTCAAGAATGTAGTCAGAAAACATA
TAAGTGATGGTGTGGCTGACAGTGGGTTGACCCTGAAAGGTTTTCTCTTTTTACACACACTTTT
TATCCAGAGAGGGAGACACGAAACTACTTGGACTGTGCTTCGACGATTTGGTTATGATGATGAC
CTGGATTTGACACCTGAATATTTGTTCCCCCTGCTGAAAATACCTCCTGATTGCACTACTGAAT
TAAATCATCATGCATATTTATTTCTCCAAAGCACCTTTGACAAGCATGATTTGGATAGAGACTG
TGCTTTGTCACCTGATGAGCTTAAAGATTTATTTAAAGTTTTCCCTTACATACCTTGGGGGCCA
GATGTGAATAACACAGTTTGTACCAATGAAAGAGGCTGGATAACCTACCAGGGATTCCTTTCCC
AGTGGACGCTCACGACTTATTTAGATGTACAGCGGTGCCTGGAATATTTGGGCTATCTAGGCTA
TTCAATATTGACTGAGCAAGAGTCTCAAGCTTCAGCTGTTACAGTGACAAGAGATAAAAAGATA
GACCTGCAGAAAAAACAAACTCAAAGAAATGTGTTCAGATGTAATGTAATTGGAGTGAAAAACT
GTGGGAAAAGTGGAGTTCTTCAGGCTCTTCTTGGAAGAAACTTAATGAGGCAGAAGAAAATTCG
TGAAGATCATAAATCCTACTATGCGATTAACACTGTTTATGTATATGGACAAGAGAAATACTTG
TTGTTGCATGATATCTCAGAATCGGAATTTCTAACTGAAGCTGAAATCATTTGTGATGTTGTAT
GCCTGGTATATGATGTCAGCAATCCCAAATCCTTTGAATACTGTGCCAGGATTTTTAAGCAACA
CTTTATGGACAGCAGAATACCTTGCTTAATCGTAGCTGCAAAGTCAGACCTGCATGAAGTTAAA
CAAGAATACAGTATTTCACCTACTGATTTCTGCAGGAAACACAAAATGCCTCCACCACAAGCCT
TCACTTGCAATACTGCTGATGCCCCCAGTAAGGATATCTTTGTTAAATTGACAACAATGGCCAT
GTATCCGCACGTGACACAAGCTGACCTCAAGAGCTCCACGTTTTGGCTTCGAGCAAGTTTTGGT
GCTACTGTTTTTGCAGTTTTGGGCTTTGCTATGTACAAAGCATTATTGAAACAGCGATGATATA
AAAAGAAATACTGTCCCTACCAAAAACAAATACTTTTATGTACATTCTGAATGCTTTAAGTTCT
GCTAGAATTATTGAGATATTTATACATGCAGAGTTACTTTATTAATATTTGTAATTCATGCATA
AGAGTATTTTAATGATAGTTATAACTGCAGTATTGGCTAGCATATGGAAAGAAAACAGCTAACA
GCCAAACTAAAATGGCTAAATTCCAGAGGCCAAAAGGGAATATTTTGTAAATATATGTACATAT
TCAGGCAAGATATGGTCTCCCAAGCTGAGTTCTAGAAATGATGTTTCTAGACATTTCTAAGTGG
TATTGTTAGTGCTCACTTGGCTCACTCTTCTAGGTTTAAGTTAGCCCAGAGATTGTATTTACTC
ATGGATCACTTTATTTATTTCACATTTACTCAGAATGATCCTTTGGGTTCTATAAGGACATAAG
GTACAATTTGCCATTGTCTCTCCATTTTTAAAAACATACAAGTCAGTGTCAGCTTACCAACATG
ACATTTTTTCAGTCAGTTGTGGTAGGCCAGCCTTGAAGCCATCGCACAGTCTAGAAACTTGTGT
AGCTGAGTGTGCAGCTCACCTTTAAGGGTGAAGTTAGGTAAAAGCAATTAGCAGAGGCGTTATC
TATGTGATTATGTTGCTTCCTTGTCAGTATGTTGAATTTTATAGCCCTTTCAATGAAATAAAAA
AAAAATTTGTATATTACCAATGTTTTTAGTTTAAATAAAGAGTCACCCTTACTACTGTTGAATT
TCATCCCAAGTGTAAATCATTCTATAATGGCTGTGTCTGTTATAGTATATTACAGTAACTGCAT
GTGTCACCAAGTGTTCTATATCAGGCTAGGATAACCTAGAGGCAGTAATTTTTTAAATGATAAA
ATAAATCTAATGAATATAAACTCTCATGATAAACCTATTTTTTCCATCATCAGCCTTTTCAAGT
ATTTAAATAAATAACTGCTGTGTACTGTGA

hide sequence

RefSeq Acc Id:

NM_001033568 ⟹ NP_001028740

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,142,502 - 32,225,727 (+)	NCBI
GRCh37	17	30,469,473 - 30,552,746 (+)	RGD
Build 36	17	27,493,586 - 27,576,859 (+)	NCBI Archive
Celera	17	27,380,006 - 27,463,684 (+)	RGD
HuRef	17	26,657,489 - 26,740,719 (+)	NCBI
CHM1_1	17	30,531,938 - 30,615,276 (+)	NCBI
T2T-CHM13v2.0	17	33,088,266 - 33,171,497 (+)	NCBI

Sequence:

show sequence

ACAGCCCGCTGGGCCGGAGGAGGCGGAGCTGGCGCTGTCCCGGCTCTCTTGCGGGGAAGCAACT
GAGGGGGCGGCGCGGCGGGCCCCGGCGGCCGAAGAGGCTGGCAGGTGGCGCCGTGGGGTGGGTG
CTCCTGGTGAGAGGAGTCCACTCCGTGCGTGCGGGCGGAGGCCGGCCCCCGAGAGCCGCCGACA
TGAAGAAAGACGTGCGGATCCTGCTGGTGGGAGAACCTAGAGTTGGGAAGACATCACTGATTAT
GTCTCTGGTCAGTGAAGAATTTCCAGAAGAGGTTCCTCCCCGGGCAGAAGAAATCACCATTCCA
GCTGATGTCACCCCAGAGAGAGTTCCAACACACATTGTAGATTACTCAGAAGCAGAACAGAGTG
ATGAACAACTTCATCAAGAAATATCTCAGGCTAATGTCATCTGTATAGTGTATGCCGTTAACAA
CAAGCATTCTATTGATAAGGTAACAAGTCGATGGATTCCTCTCATAAATGAAAGAACAGACAAA
GACAGCAGGCTGCCTTTAATATTGGTTGGGAACAAATCTGATCTGGTGGAATATAGTAGTATGG
AGACCATCCTTCCTATTATGAACCAGTATACAGAAATAGAAACCTGTGTGGAGTGTTCAGCGAA
AAACCTGAAGAACATATCAGAGCTCTTTTATTACGCACAGAAAGCTGTTCTTCATCCTACAGGG
CCCCTGTACTGCCCAGAGGAGAAGGAGATGAAACCAGCTTGTATAAAAGCCCTTACTCGTATAT
TTAAAATATCTGATCAAGATAATGATGGTACTCTCAATGATGCTGAACTCAACTTCTTTCAGAG
GATTTGTTTCAACACTCCATTAGCTCCTCAAGCTCTGGAGGATGTCAAGAATGTAGTCAGAAAA
CATATAAGTGATGGTGTGGCTGACAGTGGGTTGACCCTGAAAGGTTTTCTCTTTTTACACACAC
TTTTTATCCAGAGAGGGAGACACGAAACTACTTGGACTGTGCTTCGACGATTTGGTTATGATGA
TGACCTGGATTTGACACCTGAATATTTGTTCCCCCTGCTGAAAATACCTCCTGATTGCACTACT
GAATTAAATCATCATGCATATTTATTTCTCCAAAGCACCTTTGACAAGCATGATTTGGATAGAG
ACTGTGCTTTGTCACCTGATGAGCTTAAAGATTTATTTAAAGTTTTCCCTTACATACCTTGGGG
GCCAGATGTGAATAACACAGTTTGTACCAATGAAAGAGGCTGGATAACCTACCAGGGATTCCTT
TCCCAGTGGACGCTCACGACTTATTTAGATGTACAGCGGTGCCTGGAATATTTGGGCTATCTAG
GCTATTCAATATTGACTGAGCAAGAGTCTCAAGCTTCAGCTGTTACAGTGACAAGAGATAAAAA
GATAGACCTGCAGAAAAAACAAACTCAAAGAAATGTGTTCAGATGTAATGTAATTGGAGTGAAA
AACTGTGGGAAAAGTGGAGTTCTTCAGGCTCTTCTTGGAAGAAACTTAATGAGGCAGAAGAAAA
TTCGTGAAGATCATAAATCCTACTATGCGATTAACACTGTTTATGTATATGGACAAGAGAAATA
CTTGTTGTTGCATGATATCTCAGAATCGGAATTTCTAACTGAAGCTGAAATCATTTGTGATGTT
GTATGCCTGGTATATGATGTCAGCAATCCCAAATCCTTTGAATACTGTGCCAGGATTTTTAAGC
AACACTTTATGGACAGCAGAATACCTTGCTTAATCGTAGCTGCAAAGTCAGACCTGCATGAAGT
TAAACAAGAATACAGTATTTCACCTACTGATTTCTGCAGGAAACACAAAATGCCTCCACCACAA
GCCTTCACTTGCAATACTGCTGATGCCCCCAGTAAGGATATCTTTGTTAAATTGACAACAATGG
CCATGTATCCAGAGGATCATTACAGAGACAGACTCTCCCGAGACATGGGCCACACTGATAGAAT
AGAGAATTTGAGAAAAATCTGGGTCTTTCTAAAAACTGCTTTCCATGCCCGGTTACGCTGTATG
TGCACCTGCAACAGGTGTACATTTTGCATCTGTCAGAACTTCCTCAACTCAGACTTGCTGCAAT
CTGTAAAGAACAAAATCTTCACTGCAGTTCTTAACAGGCACGTGACACAAGCTGACCTCAAGAG
CTCCACGTTTTGGCTTCGAGCAAGTTTTGGTGCTACTGTTTTTGCAGTTTTGGGCTTTGCTATG
TACAAAGCATTATTGAAACAGCGATGATATAAAAAGAAATACTGTCCCTACCAAAAACAAATAC
TTTTATGTACATTCTGAATGCTTTAAGTTCTGCTAGAATTATTGAGATATTTATACATGCAGAG
TTACTTTATTAATATTTGTAATTCATGCATAAGAGTATTTTAATGATAGTTATAACTGCAGTAT
TGGCTAGCATATGGAAAGAAAACAGCTAACAGCCAAACTAAAATGGCTAAATTCCAGAGGCCAA
AAGGGAATATTTTGTAAATATATGTACATATTCAGGCAAGATATGGTCTCCCAAGCTGAGTTCT
AGAAATGATGTTTCTAGACATTTCTAAGTGGTATTGTTAGTGCTCACTTGGCTCACTCTTCTAG
GTTTAAGTTAGCCCAGAGATTGTATTTACTCATGGATCACTTTATTTATTTCACATTTACTCAG
AATGATCCTTTGGGTTCTATAAGGACATAAGGTACAATTTGCCATTGTCTCTCCATTTTTAAAA
ACATACAAGTCAGTGTCAGCTTACCAACATGACATTTTTTCAGTCAGTTGTGGTAGGCCAGCCT
TGAAGCCATCGCACAGTCTAGAAACTTGTGTAGCTGAGTGTGCAGCTCACCTTTAAGGGTGAAG
TTAGGTAAAAGCAATTAGCAGAGGCGTTATCTATGTGATTATGTTGCTTCCTTGTCAGTATGTT
GAATTTTATAGCCCTTTCAATGAAATAAAAAAAAAATTTGTATATTACCAATGTTTTTAGTTTA
AATAAAGAGTCACCCTTACTACTGTTGAATTTCATCCCAAGTGTAAATCATTCTATAATGGCTG
TGTCTGTTATAGTATATTACAGTAACTGCATGTGTCACCAAGTGTTCTATATCAGGCTAGGATA
ACCTAGAGGCAGTAATTTTTTAAATGATAAAATAAATCTAATGAATATAAACTCTCATGATAAA
CCTATTTTTTCCATCATCAGCCTTTTCAAGTATTTAAATAAATAACTGCTGTGTACTGTGA

hide sequence

RefSeq Acc Id:

NM_001288754 ⟹ NP_001275683

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,142,502 - 32,225,727 (+)	NCBI
HuRef	17	26,657,489 - 26,740,719 (+)	NCBI
CHM1_1	17	30,531,938 - 30,615,276 (+)	NCBI
T2T-CHM13v2.0	17	33,088,266 - 33,171,497 (+)	NCBI

Sequence:

show sequence

ACAGCCCGCTGGGCCGGAGGAGGCGGAGCTGGCGCTGTCCCGGCTCTCTTGCGGGGAAGCAACT
GAGGGGGCGGCGCGGCGGGCCCCGGCGGCCGAAGAGGCTGGCAGGTGGCGCCGTGGGGTGGGTG
CTCCTGGTGAGAGGAGTCCACTCCGTGCGTGCGGGCGGAGGCCGGCCCCCGAGAGCCGCCGACA
TGAAGAAAGACGTGCGGATCCTGCTGGTGGGAGAACCTAGAGTTGGGAAGACATCACTGATTAT
GTCTCTGGTCAGTGAAGAATTTCCAGAAGAGGTTCCTCCCCGGGCAGAAGAAATCACCATTCCA
GCTGATGTCACCCCAGAGAGAGTTCCAACACACATTGTAGATTACTCAGAAGCAGAACAGAGTG
ATGAACAACTTCATCAAGAAATATCTCAGGCTAATGTCATCTGTATAGTGTATGCCGTTAACAA
CAAGCATTCTATTGATAAGGTAACAAGTCGATGGATTCCTCTCATAAATGAAAGAACAGACAAA
GACAGCAGGCTGCCTTTAATATTGGTTGGGAACAAATCTGATCTGGTGGAATATAGTAGTATGG
AGACCATCCTTCCTATTATGAACCAGTATACAGAAATAGAAACCTGTGTGGAGTGTTCAGCGAA
AAACCTGAAGAACATATCAGAGCTCTTTTATTACGCACAGAAAGCTGTTCTTCATCCTACAGGG
CCCCTGTACTGCCCAGAGGAGAAGGAGATGAAACCAGCTTGTATAAAAGCCCTTACTCGTATAT
TTAAAATATCTGATCAAGATAATGATGGTACTCTCAATGATGCTGAACTCAACTTCTTTCAGAG
GATTTGTTTCAACACTCCATTAGCTCCTCAAGCTCTGGAGGATGTCAAGAATGTAGTCAGAAAA
CATATAAGTGATGGTGTGGCTGACAGTGGGTTGACCCTGAAAGGTTTTCTCTTTTTACACACAC
TTTTTATCCAGAGAGGGAGACACGAAACTACTTGGACTGTGCTTCGACGATTTGGTTATGATGA
TGACCTGGATTTGACACCTGAATATTTGTTCCCCCTGCTGAAAATACCTCCTGATTGCACTACT
GAATTAAATCATCATGCATATTTATTTCTCCAAAGCACCTTTGACAAGCATGATTTGGATAGAG
ACTGTGCTTTGTCACCTGATGAGCTTAAAGATTTATTTAAAGTTTTCCCTTACATACCTTGGGG
GCCAGATGTGAATAACACAGTTTGTACCAATGAAAGAGGCTGGATAACCTACCAGGGATTCCTT
TCCCAGTGGACGCTCACGACTTATTTAGATGTACAGCGGTGCCTGGAATATTTGGGCTATCTAG
GCTATTCAATATTGACTGAGCAAGAGTCTCAAGCTTCAGCTGTTACAGTGACAAGAGATAAAAA
GATAGACCTGCAGAAAAAACAAACTCAAAGAAATGTGTTCAGATGTAATGTAATTGGAGTGAAA
AACTGTGGGAAAAGTGGAGTTCTTCAGGCTCTTCTTGGAAGAAACTTAATGAGGCAGAAGAAAA
TTCGTGAAGATCATAAATCCTACTATGCGATTAACACTGTTTATGTATATGGACAAGAGAAATA
CTTGTTGTTGCATGATATCTCAGAATCGGAATTTCTAACTGAAGCTGAAATCATTTGTGATGTT
GTATGCCTGGTATATGATGTCAGCAATCCCAAATCCTTTGAATACTGTGCCAGGATTTTTAAGC
AACACTTTATGGACAGCAGAATACCTTGCTTAATCGTAGCTGCAAAGTCAGACCTGCATGAAGT
TAAACAAGAATACAGTATTTCACCTACTGATTTCTGCAGGAAACACAAAATGCCTCCACCACAA
GCCTTCACTTGCAATACTGCTGATGCCCCCAGTAAGGATATCTTTGTTAAATTGACAACAATGG
CCATGTATCCAGAGGATCATTACAGAGACAGACTCTCCCGAGACATGGGCCACACTGATAGAAT
AGAGAATTTGAGAAAAATCTGGGTCTTTCTAAAAACTGCTTTGCACGTGACACAAGCTGACCTC
AAGAGCTCCACGTTTTGGCTTCGAGCAAGTTTTGGTGCTACTGTTTTTGCAGTTTTGGGCTTTG
CTATGTACAAAGCATTATTGAAACAGCGATGATATAAAAAGAAATACTGTCCCTACCAAAAACA
AATACTTTTATGTACATTCTGAATGCTTTAAGTTCTGCTAGAATTATTGAGATATTTATACATG
CAGAGTTACTTTATTAATATTTGTAATTCATGCATAAGAGTATTTTAATGATAGTTATAACTGC
AGTATTGGCTAGCATATGGAAAGAAAACAGCTAACAGCCAAACTAAAATGGCTAAATTCCAGAG
GCCAAAAGGGAATATTTTGTAAATATATGTACATATTCAGGCAAGATATGGTCTCCCAAGCTGA
GTTCTAGAAATGATGTTTCTAGACATTTCTAAGTGGTATTGTTAGTGCTCACTTGGCTCACTCT
TCTAGGTTTAAGTTAGCCCAGAGATTGTATTTACTCATGGATCACTTTATTTATTTCACATTTA
CTCAGAATGATCCTTTGGGTTCTATAAGGACATAAGGTACAATTTGCCATTGTCTCTCCATTTT
TAAAAACATACAAGTCAGTGTCAGCTTACCAACATGACATTTTTTCAGTCAGTTGTGGTAGGCC
AGCCTTGAAGCCATCGCACAGTCTAGAAACTTGTGTAGCTGAGTGTGCAGCTCACCTTTAAGGG
TGAAGTTAGGTAAAAGCAATTAGCAGAGGCGTTATCTATGTGATTATGTTGCTTCCTTGTCAGT
ATGTTGAATTTTATAGCCCTTTCAATGAAATAAAAAAAAAATTTGTATATTACCAATGTTTTTA
GTTTAAATAAAGAGTCACCCTTACTACTGTTGAATTTCATCCCAAGTGTAAATCATTCTATAAT
GGCTGTGTCTGTTATAGTATATTACAGTAACTGCATGTGTCACCAAGTGTTCTATATCAGGCTA
GGATAACCTAGAGGCAGTAATTTTTTAAATGATAAAATAAATCTAATGAATATAAACTCTCATG
ATAAACCTATTTTTTCCATCATCAGCCTTTTCAAGTATTTAAATAAATAACTGCTGTGTACTGT
GA

hide sequence

RefSeq Acc Id:

NM_001288755 ⟹ NP_001275684

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,142,502 - 32,225,727 (+)	NCBI
HuRef	17	26,657,489 - 26,740,719 (+)	NCBI
CHM1_1	17	30,531,938 - 30,615,276 (+)	NCBI
T2T-CHM13v2.0	17	33,088,266 - 33,171,497 (+)	NCBI

Sequence:

show sequence

ACAGCCCGCTGGGCCGGAGGAGGCGGAGCTGGCGCTGTCCCGGCTCTCTTGCGGGGAAGCAACT
GAGGGGGCGGCGCGGCGGGCCCCGGCGGCCGAAGAGGCTGGCAGGTGGCGCCGTGGGGTGGGTG
CTCCTGGTGAGAGGAGTCCACTCCGTGCGTGCGGGCGGAGGCCGGCCCCCGAGAGCCGCCGACA
TGAAGAAAGACGTGCGGATCCTGCTGGTGGGAGAACAGTTGGGAAGACATCACTGATTATGTCT
CTGGTCAGTGAAGAATTTCCAGAAGAGGTTCCTCCCCGGGCAGAAGAAATCACCATTCCAGCTG
ATGTCACCCCAGAGAGAGTTCCAACACACATTGTAGATTACTCAGAAGCAGAACAGAGTGATGA
ACAACTTCATCAAGAAATATCTCAGGCTAATGTCATCTGTATAGTGTATGCCGTTAACAACAAG
CATTCTATTGATAAGGTAACAAGTCGATGGATTCCTCTCATAAATGAAAGAACAGACAAAGACA
GCAGGCTGCCTTTAATATTGGTTGGGAACAAATCTGATCTGGTGGAATATAGTAGTATGGAGAC
CATCCTTCCTATTATGAACCAGTATACAGAAATAGAAACCTGTGTGGAGTGTTCAGCGAAAAAC
CTGAAGAACATATCAGAGCTCTTTTATTACGCACAGAAAGCTGTTCTTCATCCTACAGGGCCCC
TGTACTGCCCAGAGGAGAAGGAGATGAAACCAGCTTGTATAAAAGCCCTTACTCGTATATTTAA
AATATCTGATCAAGATAATGATGGTACTCTCAATGATGCTGAACTCAACTTCTTTCAGAGGATT
TGTTTCAACACTCCATTAGCTCCTCAAGCTCTGGAGGATGTCAAGAATGTAGTCAGAAAACATA
TAAGTGATGGTGTGGCTGACAGTGGGTTGACCCTGAAAGGTTTTCTCTTTTTACACACACTTTT
TATCCAGAGAGGGAGACACGAAACTACTTGGACTGTGCTTCGACGATTTGGTTATGATGATGAC
CTGGATTTGACACCTGAATATTTGTTCCCCCTGCTGAAAATACCTCCTGATTGCACTACTGAAT
TAAATCATCATGCATATTTATTTCTCCAAAGCACCTTTGACAAGCATGATTTGGATAGAGACTG
TGCTTTGTCACCTGATGAGCTTAAAGATTTATTTAAAGTTTTCCCTTACATACCTTGGGGGCCA
GATGTGAATAACACAGTTTGTACCAATGAAAGAGGCTGGATAACCTACCAGGGATTCCTTTCCC
AGTGGACGCTCACGACTTATTTAGATGTACAGCGGTGCCTGGAATATTTGGGCTATCTAGGCTA
TTCAATATTGACTGAGCAAGAGTCTCAAGCTTCAGCTGTTACAGTGACAAGAGATAAAAAGATA
GACCTGCAGAAAAAACAAACTCAAAGAAATGTGTTCAGATGTAATGTAATTGGAGTGAAAAACT
GTGGGAAAAGTGGAGTTCTTCAGGCTCTTCTTGGAAGAAACTTAATGAGGCAGAAGAAAATTCG
TGAAGATCATAAATCCTACTATGCGATTAACACTGTTTATGTATATGGACAAGAGAAATACTTG
TTGTTGCATGATATCTCAGAATCGGAATTTCTAACTGAAGCTGAAATCATTTGTGATGTTGTAT
GCCTGGTATATGATGTCAGCAATCCCAAATCCTTTGAATACTGTGCCAGGATTTTTAAGCAACA
CTTTATGGACAGCAGAATACCTTGCTTAATCGTAGCTGCAAAGTCAGACCTGCATGAAGTTAAA
CAAGAATACAGTATTTCACCTACTGATTTCTGCAGGAAACACAAAATGCCTCCACCACAAGCCT
TCACTTGCAATACTGCTGATGCCCCCAGTAAGGATATCTTTGTTAAATTGACAACAATGGCCAT
GTATCCGCACGTGACACAAGCTGACCTCAAGAGCTCCACGTTTTGGCTTCGAGCAAGTTTTGGT
GCTACTGTTTTTGCAGTTTTGGGCTTTGCTATGTACAAAGCATTATTGAAACAGCGATGATATA
AAAAGAAATACTGTCCCTACCAAAAACAAATACTTTTATGTACATTCTGAATGCTTTAAGTTCT
GCTAGAATTATTGAGATATTTATACATGCAGAGTTACTTTATTAATATTTGTAATTCATGCATA
AGAGTATTTTAATGATAGTTATAACTGCAGTATTGGCTAGCATATGGAAAGAAAACAGCTAACA
GCCAAACTAAAATGGCTAAATTCCAGAGGCCAAAAGGGAATATTTTGTAAATATATGTACATAT
TCAGGCAAGATATGGTCTCCCAAGCTGAGTTCTAGAAATGATGTTTCTAGACATTTCTAAGTGG
TATTGTTAGTGCTCACTTGGCTCACTCTTCTAGGTTTAAGTTAGCCCAGAGATTGTATTTACTC
ATGGATCACTTTATTTATTTCACATTTACTCAGAATGATCCTTTGGGTTCTATAAGGACATAAG
GTACAATTTGCCATTGTCTCTCCATTTTTAAAAACATACAAGTCAGTGTCAGCTTACCAACATG
ACATTTTTTCAGTCAGTTGTGGTAGGCCAGCCTTGAAGCCATCGCACAGTCTAGAAACTTGTGT
AGCTGAGTGTGCAGCTCACCTTTAAGGGTGAAGTTAGGTAAAAGCAATTAGCAGAGGCGTTATC
TATGTGATTATGTTGCTTCCTTGTCAGTATGTTGAATTTTATAGCCCTTTCAATGAAATAAAAA
AAAAATTTGTATATTACCAATGTTTTTAGTTTAAATAAAGAGTCACCCTTACTACTGTTGAATT
TCATCCCAAGTGTAAATCATTCTATAATGGCTGTGTCTGTTATAGTATATTACAGTAACTGCAT
GTGTCACCAAGTGTTCTATATCAGGCTAGGATAACCTAGAGGCAGTAATTTTTTAAATGATAAA
ATAAATCTAATGAATATAAACTCTCATGATAAACCTATTTTTTCCATCATCAGCCTTTTCAAGT
ATTTAAATAAATAACTGCTGTGTACTGTGA

hide sequence

RefSeq Acc Id:

NM_001288758 ⟹ NP_001275687

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,142,502 - 32,225,727 (+)	NCBI
HuRef	17	26,657,489 - 26,740,719 (+)	NCBI
CHM1_1	17	30,531,938 - 30,615,276 (+)	NCBI
T2T-CHM13v2.0	17	33,088,266 - 33,171,497 (+)	NCBI

Sequence:

show sequence

ACAGCCCGCTGGGCCGGAGGAGGCGGAGCTGGCGCTGTCCCGGCTCTCTTGCGGGGAAGCAACT
GAGGGGGCGGCGCGGCGGGCCCCGGCGGCCGAAGAGGCTGGCAGGTGGCGCCGTGGGGTGGGTG
CTCCTGGTGAGAGGAGTCCACTCCGTGCGTGCGGGCGGAGGCCGGCCCCCGAGAGCCGCCGACA
TGAAGAAAGACGTGCGGATCCTGCTGGTGGGAGAACCTAGAGTTGGGAAGACATCACTGATTAT
GTCTCTGGTCAGTGAAGAATTTCCAGAAGAGATTGTTGTGGATTTAAATACCTCCTCATTTGCA
GAGTATCTTCAGCCTTCAACAAAATAGAATGAAAACAACATATTTAAAAAATCTAACACCGAAA
CACCAAATTAATCCAAGAATCCACTGAGTTCCTCCCCGGGCAGAAGAAATCACCATTCCAGCTG
ATGTCACCCCAGAGAGAGTTCCAACACACATTGTAGATTACTCAGAAGCAGAACAGAGTGATGA
ACAACTTCATCAAGAAATATCTCAGGCTAATGTCATCTGTATAGTGTATGCCGTTAACAACAAG
CATTCTATTGATAAGGTAACAAGTCGATGGATTCCTCTCATAAATGAAAGAACAGACAAAGACA
GCAGGCTGCCTTTAATATTGGTTGGGAACAAATCTGATCTGGTGGAATATAGTAGTATGGAGAC
CATCCTTCCTATTATGAACCAGTATACAGAAATAGAAACCTGTGTGGAGTGTTCAGCGAAAAAC
CTGAAGAACATATCAGAGCTCTTTTATTACGCACAGAAAGCTGTTCTTCATCCTACAGGGCCCC
TGTACTGCCCAGAGGAGAAGGAGATGAAACCAGCTTGTATAAAAGCCCTTACTCGTATATTTAA
AATATCTGATCAAGATAATGATGGTACTCTCAATGATGCTGAACTCAACTTCTTTCAGAGGATT
TGTTTCAACACTCCATTAGCTCCTCAAGCTCTGGAGGATGTCAAGAATGTAGTCAGAAAACATA
TAAGTGATGGTGTGGCTGACAGTGGGTTGACCCTGAAAGGTTTTCTCTTTTTACACACACTTTT
TATCCAGAGAGGGAGACACGAAACTACTTGGACTGTGCTTCGACGATTTGGTTATGATGATGAC
CTGGATTTGACACCTGAATATTTGTTCCCCCTGCTGAAAATACCTCCTGATTGCACTACTGAAT
TAAATCATCATGCATATTTATTTCTCCAAAGCACCTTTGACAAGCATGATTTGGATAGAGACTG
TGCTTTGTCACCTGATGAGCTTAAAGATTTATTTAAAGTTTTCCCTTACATACCTTGGGGGCCA
GATGTGAATAACACAGTTTGTACCAATGAAAGAGGCTGGATAACCTACCAGGGATTCCTTTCCC
AGTGGACGCTCACGACTTATTTAGATGTACAGCGGTGCCTGGAATATTTGGGCTATCTAGGCTA
TTCAATATTGACTGAGCAAGAGTCTCAAGCTTCAGCTGTTACAGTGACAAGAGATAAAAAGATA
GACCTGCAGAAAAAACAAACTCAAAGAAATGTGTTCAGATGTAATGTAATTGGAGTGAAAAACT
GTGGGAAAAGTGGAGTTCTTCAGGCTCTTCTTGGAAGAAACTTAATGAGGCAGAAGAAAATTCG
TGAAGATCATAAATCCTACTATGCGATTAACACTGTTTATGTATATGGACAAGAGAAATACTTG
TTGTTGCATGATATCTCAGAATCGGAATTTCTAACTGAAGCTGAAATCATTTGTGATGTTGTAT
GCCTGGTATATGATGTCAGCAATCCCAAATCCTTTGAATACTGTGCCAGGATTTTTAAGCAACA
CTTTATGGACAGCAGAATACCTTGCTTAATCGTAGCTGCAAAGTCAGACCTGCATGAAGTTAAA
CAAGAATACAGTATTTCACCTACTGATTTCTGCAGGAAACACAAAATGCCTCCACCACAAGCCT
TCACTTGCAATACTGCTGATGCCCCCAGTAAGGATATCTTTGTTAAATTGACAACAATGGCCAT
GTATCCAGAGGATCATTACAGAGACAGACTCTCCCGAGACATGGGCCACACTGATAGAATAGAG
AATTTGAGAAAAATCTGGGTCTTTCTAAAAACTGCTTTGCACGTGACACAAGCTGACCTCAAGA
GCTCCACGTTTTGGCTTCGAGCAAGTTTTGGTGCTACTGTTTTTGCAGTTTTGGGCTTTGCTAT
GTACAAAGCATTATTGAAACAGCGATGATATAAAAAGAAATACTGTCCCTACCAAAAACAAATA
CTTTTATGTACATTCTGAATGCTTTAAGTTCTGCTAGAATTATTGAGATATTTATACATGCAGA
GTTACTTTATTAATATTTGTAATTCATGCATAAGAGTATTTTAATGATAGTTATAACTGCAGTA
TTGGCTAGCATATGGAAAGAAAACAGCTAACAGCCAAACTAAAATGGCTAAATTCCAGAGGCCA
AAAGGGAATATTTTGTAAATATATGTACATATTCAGGCAAGATATGGTCTCCCAAGCTGAGTTC
TAGAAATGATGTTTCTAGACATTTCTAAGTGGTATTGTTAGTGCTCACTTGGCTCACTCTTCTA
GGTTTAAGTTAGCCCAGAGATTGTATTTACTCATGGATCACTTTATTTATTTCACATTTACTCA
GAATGATCCTTTGGGTTCTATAAGGACATAAGGTACAATTTGCCATTGTCTCTCCATTTTTAAA
AACATACAAGTCAGTGTCAGCTTACCAACATGACATTTTTTCAGTCAGTTGTGGTAGGCCAGCC
TTGAAGCCATCGCACAGTCTAGAAACTTGTGTAGCTGAGTGTGCAGCTCACCTTTAAGGGTGAA
GTTAGGTAAAAGCAATTAGCAGAGGCGTTATCTATGTGATTATGTTGCTTCCTTGTCAGTATGT
TGAATTTTATAGCCCTTTCAATGAAATAAAAAAAAAATTTGTATATTACCAATGTTTTTAGTTT
AAATAAAGAGTCACCCTTACTACTGTTGAATTTCATCCCAAGTGTAAATCATTCTATAATGGCT
GTGTCTGTTATAGTATATTACAGTAACTGCATGTGTCACCAAGTGTTCTATATCAGGCTAGGAT
AACCTAGAGGCAGTAATTTTTTAAATGATAAAATAAATCTAATGAATATAAACTCTCATGATAA
ACCTATTTTTTCCATCATCAGCCTTTTCAAGTATTTAAATAAATAACTGCTGTGTACTGTGA

hide sequence

RefSeq Acc Id:

NM_018307 ⟹ NP_060777

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,142,502 - 32,225,727 (+)	NCBI
GRCh37	17	30,469,473 - 30,552,746 (+)	RGD
Build 36	17	27,493,586 - 27,576,858 (+)	NCBI Archive
Celera	17	27,380,006 - 27,463,684 (+)	RGD
HuRef	17	26,657,489 - 26,740,719 (+)	NCBI
CHM1_1	17	30,531,938 - 30,615,276 (+)	NCBI
T2T-CHM13v2.0	17	33,088,266 - 33,171,497 (+)	NCBI

Sequence:

show sequence

ACAGCCCGCTGGGCCGGAGGAGGCGGAGCTGGCGCTGTCCCGGCTCTCTTGCGGGGAAGCAACT
GAGGGGGCGGCGCGGCGGGCCCCGGCGGCCGAAGAGGCTGGCAGGTGGCGCCGTGGGGTGGGTG
CTCCTGGTGAGAGGAGTCCACTCCGTGCGTGCGGGCGGAGGCCGGCCCCCGAGAGCCGCCGACA
TGAAGAAAGACGTGCGGATCCTGCTGGTGGGAGAACCTAGAGTTGGGAAGACATCACTGATTAT
GTCTCTGGTCAGTGAAGAATTTCCAGAAGAGGTTCCTCCCCGGGCAGAAGAAATCACCATTCCA
GCTGATGTCACCCCAGAGAGAGTTCCAACACACATTGTAGATTACTCAGAAGCAGAACAGAGTG
ATGAACAACTTCATCAAGAAATATCTCAGGCTAATGTCATCTGTATAGTGTATGCCGTTAACAA
CAAGCATTCTATTGATAAGGTAACAAGTCGATGGATTCCTCTCATAAATGAAAGAACAGACAAA
GACAGCAGGCTGCCTTTAATATTGGTTGGGAACAAATCTGATCTGGTGGAATATAGTAGTATGG
AGACCATCCTTCCTATTATGAACCAGTATACAGAAATAGAAACCTGTGTGGAGTGTTCAGCGAA
AAACCTGAAGAACATATCAGAGCTCTTTTATTACGCACAGAAAGCTGTTCTTCATCCTACAGGG
CCCCTGTACTGCCCAGAGGAGAAGGAGATGAAACCAGCTTGTATAAAAGCCCTTACTCGTATAT
TTAAAATATCTGATCAAGATAATGATGGTACTCTCAATGATGCTGAACTCAACTTCTTTCAGAG
GATTTGTTTCAACACTCCATTAGCTCCTCAAGCTCTGGAGGATGTCAAGAATGTAGTCAGAAAA
CATATAAGTGATGGTGTGGCTGACAGTGGGTTGACCCTGAAAGGTTTTCTCTTTTTACACACAC
TTTTTATCCAGAGAGGGAGACACGAAACTACTTGGACTGTGCTTCGACGATTTGGTTATGATGA
TGACCTGGATTTGACACCTGAATATTTGTTCCCCCTGCTGAAAATACCTCCTGATTGCACTACT
GAATTAAATCATCATGCATATTTATTTCTCCAAAGCACCTTTGACAAGCATGATTTGGATAGAG
ACTGTGCTTTGTCACCTGATGAGCTTAAAGATTTATTTAAAGTTTTCCCTTACATACCTTGGGG
GCCAGATGTGAATAACACAGTTTGTACCAATGAAAGAGGCTGGATAACCTACCAGGGATTCCTT
TCCCAGTGGACGCTCACGACTTATTTAGATGTACAGCGGTGCCTGGAATATTTGGGCTATCTAG
GCTATTCAATATTGACTGAGCAAGAGTCTCAAGCTTCAGCTGTTACAGTGACAAGAGATAAAAA
GATAGACCTGCAGAAAAAACAAACTCAAAGAAATGTGTTCAGATGTAATGTAATTGGAGTGAAA
AACTGTGGGAAAAGTGGAGTTCTTCAGGCTCTTCTTGGAAGAAACTTAATGAGGCAGAAGAAAA
TTCGTGAAGATCATAAATCCTACTATGCGATTAACACTGTTTATGTATATGGACAAGAGAAATA
CTTGTTGTTGCATGATATCTCAGAATCGGAATTTCTAACTGAAGCTGAAATCATTTGTGATGTT
GTATGCCTGGTATATGATGTCAGCAATCCCAAATCCTTTGAATACTGTGCCAGGATTTTTAAGC
AACACTTTATGGACAGCAGAATACCTTGCTTAATCGTAGCTGCAAAGTCAGACCTGCATGAAGT
TAAACAAGAATACAGTATTTCACCTACTGATTTCTGCAGGAAACACAAAATGCCTCCACCACAA
GCCTTCACTTGCAATACTGCTGATGCCCCCAGTAAGGATATCTTTGTTAAATTGACAACAATGG
CCATGTATCCGCACGTGACACAAGCTGACCTCAAGAGCTCCACGTTTTGGCTTCGAGCAAGTTT
TGGTGCTACTGTTTTTGCAGTTTTGGGCTTTGCTATGTACAAAGCATTATTGAAACAGCGATGA
TATAAAAAGAAATACTGTCCCTACCAAAAACAAATACTTTTATGTACATTCTGAATGCTTTAAG
TTCTGCTAGAATTATTGAGATATTTATACATGCAGAGTTACTTTATTAATATTTGTAATTCATG
CATAAGAGTATTTTAATGATAGTTATAACTGCAGTATTGGCTAGCATATGGAAAGAAAACAGCT
AACAGCCAAACTAAAATGGCTAAATTCCAGAGGCCAAAAGGGAATATTTTGTAAATATATGTAC
ATATTCAGGCAAGATATGGTCTCCCAAGCTGAGTTCTAGAAATGATGTTTCTAGACATTTCTAA
GTGGTATTGTTAGTGCTCACTTGGCTCACTCTTCTAGGTTTAAGTTAGCCCAGAGATTGTATTT
ACTCATGGATCACTTTATTTATTTCACATTTACTCAGAATGATCCTTTGGGTTCTATAAGGACA
TAAGGTACAATTTGCCATTGTCTCTCCATTTTTAAAAACATACAAGTCAGTGTCAGCTTACCAA
CATGACATTTTTTCAGTCAGTTGTGGTAGGCCAGCCTTGAAGCCATCGCACAGTCTAGAAACTT
GTGTAGCTGAGTGTGCAGCTCACCTTTAAGGGTGAAGTTAGGTAAAAGCAATTAGCAGAGGCGT
TATCTATGTGATTATGTTGCTTCCTTGTCAGTATGTTGAATTTTATAGCCCTTTCAATGAAATA
AAAAAAAAATTTGTATATTACCAATGTTTTTAGTTTAAATAAAGAGTCACCCTTACTACTGTTG
AATTTCATCCCAAGTGTAAATCATTCTATAATGGCTGTGTCTGTTATAGTATATTACAGTAACT
GCATGTGTCACCAAGTGTTCTATATCAGGCTAGGATAACCTAGAGGCAGTAATTTTTTAAATGA
TAAAATAAATCTAATGAATATAAACTCTCATGATAAACCTATTTTTTCCATCATCAGCCTTTTC
AAGTATTTAAATAAATAACTGCTGTGTACTGTGA

hide sequence

RefSeq Acc Id:

NR_110083

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,142,502 - 32,225,727 (+)	NCBI
HuRef	17	26,657,489 - 26,740,719 (+)	NCBI
CHM1_1	17	30,531,938 - 30,615,276 (+)	NCBI
T2T-CHM13v2.0	17	33,088,266 - 33,171,497 (+)	NCBI

Sequence:

show sequence

ACAGCCCGCTGGGCCGGAGGAGGCGGAGCTGGCGCTGTCCCGGCTCTCTTGCGGGGAAGCAACT
GAGGGGGCGGCGCGGCGGGCCCCGGCGGCCGAAGAGGCTGGCAGGTGGCGCCGTGGGGTGGGTG
CTCCTGGTGAGAGGAGTCCACTCCGTGCGTGCGGGCGGAGGCCGGCCCCCGAGAGCCGCCGACA
TGAAGAAAGACGTGCGGATCCTGCTGGTGGGAGAACCTAGAGTTGGGAAGACATCACTGATTAT
GTCTCTGGTCAGTGAAGAATTTCCAGAAGAGGTTCCTCCCCGGGCAGAAGAAATCACCATTCCA
GCTGATGTCACCCCAGAGAGAGTTCCAACACACATTGTAGATTACTCAGAAGCAGAACAGAGTG
ATGAACAACTTCATCAAGAAATATCTCAGGCTAATGTCATCTGTATAGTGTATGCCGTTAACAA
CAAGCATTCTATTGATAAGGTAACAAGTCGATGGATTCCTCTCATAAATGAAAGAACAGACAAA
GACAGCAGGCTGCCTTTAATATTGGTTGGGAACAAATCTGATCTGGTGGAATATAGTAGTATGG
AGACCATCCTTCCTATTATGAACCAGTATACAGAAATAGAAACCTGTGTGGAGTGTTCAGCGAA
AAACCTGAAGAACATATCAGAGCTCTTTTATTACGCACAGAAAGCTGTTCTTCATCCTACAGGG
CCCCTGTACTGCCCAGAGGAGAAGGAGATGAAACCAGCTTGTATAAAAGCCCTTACTCGTATAT
TTAAAATATCTGATCAAGATAATGATGGTACTCTCAATGATGCTGAACTCAACTTCTTTCAGAG
GATTTGTTTCAACACTCCATTAGCTCCTCAAGCTCTGGAGGATGTCAAGAATGTAGTCAGAAAA
CATATAAGTGATGGTGTGGCTGACAGTGGGTTGACCCTGAAAGGTTTTCTCTTTTTACACACAC
TTTTTATCCAGAGAGGGAGACACGAAACTACTTGGACTGTGCTTCGACGATTTGGTTATGATGA
TGACCTGGATTTGACACCTGAATATTTGTTCCCCCTGCTGAAAATACCTCCTGATTGCACTACT
GAATTAAATCATCATGCATATTTATTTCTCCAAAGCACCTTTGACAAGCATGATTTGGATAGAG
ACTGTGCTTTGTCACCTGATGAGCTTAAAGATTTATTTAAAGTTTTCCCTTACATACCTTGGGG
GCCAGATGTGAATAACACAGTTTGTACCAATGAAAGAGGCTGGATAACCTACCAGGGATTCCTT
TCCCAGTGGACGCTCACGACTTATTTAGATGTACAGCGGTGCCTGGAATATTTGGGCTATCTAG
GCTATTCAATATTGACTGAGCAAGAGTCTCAAGCTTCAGCTGTTACAGTGACAAGAGATAAAAA
GATAGACCTGCAGAAAAAACAAACTCAAAGAAATGTGTTCAGATGTAATGTAATTGGAGTGAAA
AACTGTGGGAAAAGTGGAGTTCTTCAGGCTCTTCTTGGAAGAAACTTAATGAGGCAGAAGAAAA
TTCGTGAAGATCATAAATCCTACTATGCGATTAACACTGTTTATGTATATGGACAAGAGAAATA
CTTGTTGTTGCATGATATCTCAGAATCGGAATTTCTAACTGAAGCTGAAATCATTTGTGATGTT
GTATGCCTGGTATATGATGTCAGCAATCCCAAATCCTTTGAATACTGTGCCAGGATTTTTAAGC
AACACTTTATGGACAGCAGAATACCTTGCTTAATCGTAGCTGCAAAGTCAGACCTGCATGAAGT
TAAACAAGAATACAGTATTTCACCTACTGATTTCTGCAGGAAACACAAAATGCCTCCACCACAA
GCCTTCACTTGCAATACTGCTGATGCCCCCAGTAAGGATATCTTTGTTAAATTGACAACAATGG
CCATGTATCCCCATGCCCGGTTACGCTGTATGTGCACCTGCAACAGGTGTACATTTTGCATCTG
TCAGAACTTCCTCAACTCAGACTTGCTGCAATCTGTAAAGAACAAAATCTTCACTGCAGTTCTT
AACAGAATTATTTCTGCTTAAGTTTAGAAATGAGCCAGAAGCGGCCAGGCGTGGTGGCTCACGC
CTGTAATCTCAGCACTTTCGGAAGCCGAGGTGGGTGGATCACCTGAGATCAGGAGATCGAGACC
ATCGTGGCCAACACGGCACGTGACACAAGCTGACCTCAAGAGCTCCACGTTTTGGCTTCGAGCA
AGTTTTGGTGCTACTGTTTTTGCAGTTTTGGGCTTTGCTATGTACAAAGCATTATTGAAACAGC
GATGATATAAAAAGAAATACTGTCCCTACCAAAAACAAATACTTTTATGTACATTCTGAATGCT
TTAAGTTCTGCTAGAATTATTGAGATATTTATACATGCAGAGTTACTTTATTAATATTTGTAAT
TCATGCATAAGAGTATTTTAATGATAGTTATAACTGCAGTATTGGCTAGCATATGGAAAGAAAA
CAGCTAACAGCCAAACTAAAATGGCTAAATTCCAGAGGCCAAAAGGGAATATTTTGTAAATATA
TGTACATATTCAGGCAAGATATGGTCTCCCAAGCTGAGTTCTAGAAATGATGTTTCTAGACATT
TCTAAGTGGTATTGTTAGTGCTCACTTGGCTCACTCTTCTAGGTTTAAGTTAGCCCAGAGATTG
TATTTACTCATGGATCACTTTATTTATTTCACATTTACTCAGAATGATCCTTTGGGTTCTATAA
GGACATAAGGTACAATTTGCCATTGTCTCTCCATTTTTAAAAACATACAAGTCAGTGTCAGCTT
ACCAACATGACATTTTTTCAGTCAGTTGTGGTAGGCCAGCCTTGAAGCCATCGCACAGTCTAGA
AACTTGTGTAGCTGAGTGTGCAGCTCACCTTTAAGGGTGAAGTTAGGTAAAAGCAATTAGCAGA
GGCGTTATCTATGTGATTATGTTGCTTCCTTGTCAGTATGTTGAATTTTATAGCCCTTTCAATG
AAATAAAAAAAAAATTTGTATATTACCAATGTTTTTAGTTTAAATAAAGAGTCACCCTTACTAC
TGTTGAATTTCATCCCAAGTGTAAATCATTCTATAATGGCTGTGTCTGTTATAGTATATTACAG
TAACTGCATGTGTCACCAAGTGTTCTATATCAGGCTAGGATAACCTAGAGGCAGTAATTTTTTA
AATGATAAAATAAATCTAATGAATATAAACTCTCATGATAAACCTATTTTTTCCATCATCAGCC
TTTTCAAGTATTTAAATAAATAACTGCTGTGTACTGTGA

hide sequence

RefSeq Acc Id:

XM_011524969 ⟹ XP_011523271

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,171,047 - 32,221,160 (+)	NCBI

Sequence:

show sequence

CTAGAGTTGGGAAGACATCACTGATTATGTCTCTGGTCAGTGAAGAATTTCCAGAAGAGGTTCC
TCCCCGGGCAGAAGAAATCACCATTCCAGCTGATGTCACCCCAGAGAGAGTTCCAACACACATT
GTAGATTACTCAGAAGCAGAACAGAGTGATGAACAACTTCATCAAGAAATATCTCAGGCTAATG
TCATCTGTATAGTGTATGCCGTTAACAACAAGCATTCTATTGATAAGGTAACAAGTCGATGGAT
TCCTCTCATAAATGAAAGAACAGACAAAGACAGCAGGCTGCCTTTAATATTGGTTGGGAACAAA
TCTGATCTGGTGGAATATAGTAGTATGGAGACCATCCTTCCTATTATGAACCAGTATACAGAAA
TAGAAACCTGTGTGGAGTGTTCAGCGAAAAACCTGAAGAACATATCAGAGCTCTTTTATTACGC
ACAGAAAGCTGTTCTTCATCCTACAGGGCCCCTGTACTGCCCAGAGGAGAAGGAGATGAAACCA
GCTTGTATAAAAGCCCTTACTCGTATATTTAAAATATCTGATCAAGATAATGATGGTACTCTCA
ATGATGCTGAACTCAACTTCTTTCAGAGGATTTGTTTCAACACTCCATTAGCTCCTCAAGCTCT
GGAGGATGTCAAGAATGTAGTCAGAAAACATATAAGTGATGGTGTGGCTGACAGTGGGTTGACC
CTGAAAGGTTTTCTCTTTTTACACACACTTTTTATCCAGAGAGGGAGACACGAAACTACTTGGA
CTGTGCTTCGACGATTTGGTTATGATGATGACCTGGATTTGACACCTGAATATTTGTTCCCCCT
GCTGAAAATACCTCCTGATTGCACTACTGAATTAAATCATCATGCATATTTATTTCTCCAAAGC
ACCTTTGACAAGCATGATTTGGATAGAGACTGTGCTTTGTCACCTGATGAGCTTAAAGATTTAT
TTAAAGTTTTCCCTTACATACCTTGGGGGCCAGATGTGAATAACACAGTTTGTACCAATGAAAG
AGGCTGGATAACCTACCAGGGATTCCTTTCCCAGTGGACGCTCACGACTTATTTAGATGTACAG
CGGTGCCTGGAATATTTGGGCTATCTAGGCTATTCAATATTGACTGAGCAAGAGTCTCAAGCTT
CAGCTGTTACAGTGACAAGAGATAAAAAGATAGACCTGCAGAAAAAACAAACTCAAAGAAATGT
GTTCAGATGTAATGTAATTGGAGTGAAAAACTGTGGGAAAAGTGGAGTTCTTCAGGCTCTTCTT
GGAAGAAACTTAATGAGGCAGAAGAAAATTCGTGAAGATCATAAATCCTACTATGCGATTAACA
CTGTTTATGTATATGGACAAGAGAAATACTTGTTGTTGCATGATATCTCAGAATCGGAATTTCT
AACTGAAGCTGAAATCATTTGTGATGTTGTATGCCTGGTATATGATGTCAGCAATCCCAAATCC
TTTGAATACTGTGCCAGGATTTTTAAGCAACACTTTATGGACAGCAGAATACCTTGCTTAATCG
TAGCTGCAAAGTCAGACCTGCATGAAGTTAAACAAGAATACAGTATTTCACCTACTGATTTCTG
CAGGAAACACAAAATGCCTCCACCACAAGCCTTCACTTGCAATACTGCTGATGCCCCCAGTAAG
GATATCTTTGTTAAATTGACAACAATGGCCATGTATCCAGAGGATCATTACAGAGACAGACTCT
CCCGAGACATGGGCCACACTGATAGAATAGAGAATTTGAGAAAAATCTGGGTCTTTCTAAAAAC
TGCTTTCCATGCCCGGTTACGCTGTATGTGCACCTGCAACAGGTGTACATTTTGCATCTGTCAG
AACTTCCTCAACTCAGACTTGCTGCAATCTGTAAAGAACAAAATCTTCACTGCAGTTCTTAACA
GTTTAGAAATGAGCCAGAAGCGGCCAGGCGTGGTGGCTCACGCCTGTAATCTCAGCACTTTCGG
AAGCCGAGGTGGGTGGATCACCTGAGATCAGGAGATCGAGACCATCGTGGCCAACACGGCACGT
GACACAAGCTGACCTCAAGAGCTCCACGTTTTGGCTTCGAGCAAGTTTTGGTGCTACTGTTTTT
GCAGTTTTGGGCTTTGCTATGTACAAAGCATTATTGAAACAGCGATGATATAAAAAGAAATACT
GTCCCTACCAAAAACAAATACTTTTATGTACATTCTGAATGCTTTAAGTTCTGCTAGAATTATT
GAGATATTTATACATGCAGAGTTACTTTATTAATATTTGTAATTCATGCATAAGAGTATTTTAA
TGATAGTTATAACTGCAGTATTGGCTAGCATATGGAAAGAAAACAGCTAACAGCCAAACTAAAA
TGGCTAAATTCCAGAGGCCAAAAGGGAATATTTTGTAAATATATGTACATATTCAGGCAAGATA
TGGTCTCCCAAGCTGAGTTCTAGAAATGATGTTTCTAGACATTTCTAAGTGGTATTGTTAGTGC
TCACTTGGCTCACTCTTCTAGGTTTAAGTTAGCCCAGAGATTGTATTTACTCATGGATCACTTT
ATTTATTTCACATTTACTCAGAATGATCCTTTGGGTTCTATAAGGACATAAGGTACAATTTGCC
ATTGTCTCTCCATTTTTAAAAACATACAAGTCAGTGTCAGCTTACCAACATGACATTTTTTCAG
TCAGTTGTGGTAGGCCAGCCTTGAAGCCATCGCACAGTCTAGAAACTTGTGTAGCTGAGTGTGC
AGCTCACCTTTAAGGGTGAAGTTAGGTAAAAGCAATTAGCAGAGGCGTTATCTATGTGATTATG
TTGCTTCCTTGTCAGTATGTTGAATTTTATAGCCCTTTCAATGAAATAAAAAAAAAATTTGTAT
ATTACCAATGTTTTTAGTTTAAATAAAGAGTCACCCTTACTACTGTTGAATTTCATCCCAAGTG
TAAATCATTCTATAATGGCTGTGTCTGTTATAGTATATTACAGTAACTGCATGTGTCACCAAGT
GTTCTATATCAGGCTAGGATAACCTAGAGGCAGTAATTTTTTAAATGATAAAATAAATCTAATG
AATATAAACTCTCATGATAAACCTATTTTTTCCATCATCAGCCTTTTCAAGTATTTAAATAAAT
AACTGCTGTGTACTGTGA

hide sequence

RefSeq Acc Id:

XM_011524973 ⟹ XP_011523275

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,142,502 - 32,217,380 (+)	NCBI

Sequence:

show sequence

GTGCGGGCGGAGGCCGGCCCCCGAGAGCCGCCGACATGAAGAAAGACGTGCGGATCCTGCTGGT
GGGAGAACCTAGAGTTGGGAAGACATCACTGATTATGTCTCTGGTCAGTGAAGAATTTCCAGAA
GAGGTTCCTCCCCGGGCAGAAGAAATCACCATTCCAGCTGATGTCACCCCAGAGAGAGTTCCAA
CACACATTGTAGATTACTCAGAAGCAGAACAGAGTGATGAACAACTTCATCAAGAAATATCTCA
GGCTAATGTCATCTGTATAGTGTATGCCGTTAACAACAAGCATTCTATTGATAAGGTAACAAGT
CGATGGATTCCTCTCATAAATGAAAGAACAGACAAAGACAGCAGGCTGCCTTTAATATTGGTTG
GGAACAAATCTGATCTGGTGGAATATAGTAGTATGGAGACCATCCTTCCTATTATGAACCAGTA
TACAGAAATAGAAACCTGTGTGGAGTGTTCAGCGAAAAACCTGAAGAACATATCAGAGCTCTTT
TATTACGCACAGAAAGCTGTTCTTCATCCTACAGGGCCCCTGTACTGCCCAGAGGAGAAGGAGA
TGAAACCAGCTTGTATAAAAGCCCTTACTCGTATATTTAAAATATCTGATCAAGATAATGATGG
TACTCTCAATGATGCTGAACTCAACTTCTTTCAGAGGATTTGTTTCAACACTCCATTAGCTCCT
CAAGCTCTGGAGGATGTCAAGAATGTAGTCAGAAAACATATAAGTGATGGTGTGGCTGACAGTG
GGTTGACCCTGAAAGGTTTTCTCTTTTTACACACACTTTTTATCCAGAGAGGGAGACACGAAAC
TACTTGGACTGTGCTTCGACGATTTGGTTATGATGATGACCTGGATTTGACACCTGAATATTTG
TTCCCCCTGCTGAAAATACCTCCTGATTGCACTACTGAATTAAATCATCATGCATATTTATTTC
TCCAAAGCACCTTTGACAAGCATGATTTGGATAGAGACTGTGCTTTGTCACCTGATGAGCTTAA
AGATTTATTTAAAGTTTTCCCTTACATACCTTGGGGGCCAGATGTGAATAACACAGTTTGTACC
AATGAAAGAGGCTGGATAACCTACCAGGGATTCCTTTCCCAGTGGACGCTCACGACTTATTTAG
ATGTACAGCGGTGCCTGGAATATTTGGGCTATCTAGGCTATTCAATATTGACTGAGCAAGAGTC
TCAAGCTTCAGCTGTTACAGTGACAAGAGATAAAAAGATAGACCTGCAGAAAAAACAAACTCAA
AGAAATGTGTTCAGATGTAATGTAATTGGAGTGAAAAACTGTGGGAAAAGTGGAGTTCTTCAGG
CTCTTCTTGGAAGAAACTTAATGAGGCAGAAGAAAATTCGTGAAGATCATAAATCCTACTATGC
GATTAACACTGTTTATGTATATGGACAAGAGAAATACTTGTTGTTGCATGATATCTCAGAATCG
GAATTTCTAACTGAAGCTGAAATCATTTGTGATGTTGTATGCCTGGTATATGATGTCAGCAATC
CCAAATCCTTTGAATACTGTGCCAGGATTTTTAAGCAACACTTTATGGACAGCAGAATACCTTG
CTTAATCGTAGCTGCAAAGTCAGACCTGCATGAAGTTAAACAAGAATACAGTATTTCACCTACT
GATTTCTGCAGGAAACACAAAATGCCTCCACCACAAGCCTTCACTTGCAATACTGCTGATGCCC
CCAGTAAGGATATCTTTGTTAAATTGACAACAATGGCCATGTATCCAGAGGATCATTACAGAGA
CAGACTCTCCCGAGACATGGGCCACACTGATAGAATAGAGAATTTGAGAAAAATCTGGGTCTTT
CTAAAAACTGCTTTCCATGCCCGGTTACGCTGTATGTGCACCTGCAACAGGTGTACATTTTGCA
TCTGTCAGAACTTCCTCAACTCAGACTTGCTGCAATCTGTAAAGAACAAAATCTTCACTGCAGT
TCTTAACAGTTTTAGTTCTGCCCTTTAGAACAACATACGACTATCCTACTCCCTCTTCAACATA
GCAATCCTTCAGGCATTTGAAGACGGCCATCATGTCTCCCCTAATTTTCTCTTCTCCAGGTAGA
ACATCCCCATTTCTTTCAGCCTTTTCTTAAATTAGATGGTTTAGTGAACTTATCATTCCTGGTT
GTCTTCATCTGAAAGCCCCTTAGGTTTTCACAGTACCTCTTAAAAGGTGCCACCAAGAATAGAA
AGCAGTGTTGCAGTTGTAGTGCGACTAGTCCAGAACAGTGGGCAGCTGTTTTTCACAATTAGGA
CAGCATCTGTCTAGGGCATGAATTAACTTTTTGGCAGTCCCATCCCACTGTTGACATATATTGT
CTTGGGGCTAATTAAAGTCAGATGTTTTTCATATGAAGAGACAGATGTCCCCTCCTTTCTGATG
TGTATTTGACATTTTTTAGTTGATGCTTTAAATCTAAATGCAGATACATATATATCTCTATTAA
ATGTCATATTCTTCTTTTTGATCCATTTGTTCTAGCTCAGTCATTTCAAACATTATTTCTGTCA
TTTGTCCCATTATATATTTCTCTAAGCATTGTGTTATTTGCAGATTTGGTAGATATGTACTGTT
TTTCAAGTTACTGATAAAAAATGATGTTGAATACCCAGAGGTTGGAGAGAGAGAGAGTGCTAAA
CTGAGCAAGCCCTATAGTATTCCACCAGAGAACTCTTTGTCAATGACAGGTTCAAAATTCTTGG
GGAAGGATTTTTCAGTCAATGAAAAATATGTTATTATCCAGCCCACATTTTGTCTTCCTGTCTT
ATCAGATATTTCATGAAGGATTTTTCTAAAATCAGTATATAATTTCTTCCATATTCCTCTGATC
TACCAATATCATAATTTTATCTAATTAGCAAGCAACATCTATTTGATGTCTTATTTTGGTGAAC
TCACCTTGGCTCCCCGTAATTGCTGATCACAAACCACCTATTTTATTACCTATTCTAGAAACTC
TTGATTGTCCATAATTACAGATTGATTCATTGTCTGTGTCCCTGGTGACAATTTTATTCCTAGA
TTGGTTTAGTTAGCTTTCAAATAAAATTGATTTAGTTAGCTTTCAAATGAAATAGGACAGATGT
GCATTAAATGAATACTATTGTGCATAGTAAATTATACAATGGCCCTCAAAGAGAAATCAGTACG
TTTCGGTCATATCTATTTATAAACTGGTAGTAATTTAATGGTGATGTCAGCACACATCCTGACA
TCTGGTAATCAAGAATGGAAAGAATGAAAACGACAAGTAGAGGAACCAGTATACTTTTCAAACA
CTCCTTCCTTATCCCCGTTAGTATTTCAATCATTTATTTAAGAGAAGTACAGTGGAATTTTAGG
GGCTGCGTATTGGAGTTTCTTCTAGTTTATGAAAGGTAAGTAAGATAGGTAGGTGGGGGCCAAA
AACTCAGTGCCCACAGGTCCCGGATGGATACTGTAAAAGAATGAAGGTGGCCAAGTATAAGAAA
CAAGGAGAGGTGGGGACTGTGACAGGCACTGTCTAAAAGAGGCAGCCACCACTCAGCTCTGGCC
GTTTGTTGTTGTACAGGTCTGGTGTTGCCAGGTTTTCTGGTTTTACAAGAGACTGGAAATCAAG
GCTTTGGTGTGAAATTTCCAGATTGTTAGAGATTAGCAATTAATTAACAAATTTTTAAGTACTA
ATCAGAACAAAGCATGTTTATAGTCCACCAGCTTGCAACCTCAGTCTTAAGGTATGGCCTAGTC
ATGAAAATAGAGGCCAAGGAAAAGGACACATAGAATGAAAATGTCTCTGGTCCCATCACCACCA
CCACCACTTTACTCCTTTCCCATGAAAAATTTGAAAAAGTTATTGGGTGGTGGGATGAGAATGG
AACCACCTTTCCCTGTTACTTCTCAGGTTTTGGCAGCTGTTACTGGTTGGTCACTATTGGTTTC
CTGTGTTAGACATATCCTAATGTTAGGCACAAAAAAGATTGATTGACTAAGTAAAAGTCATTTA
AAATTTTTTCACTGTATTTTATTCATAGGGAGGGTTCTCACCTAACACTAGGTCCTAAGTCTTT
GTTTTTAGATATCAGAACTACCATGCTTAGTGTTTGATTTAGAATTGTGAAAGAGCAGTTCTAA
AAGGCTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACCCTGCCACC
CAGGCGGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGAT
TCTCGTGCCTCAGCCTCCGGAGTAGCTGGGACCACAGGCATGTGCCACTTTGCCCGGCTAATTT
TTGTATTTTTAGTTTCGCCATGTCTCAAACTGGTCTCGAACTCCTGACTTCAGGTGGTCTGCCA
GCCTCAGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCGCACCCAGCTGTCATTTTTAT
TTAAGTAAAAAGTTTCATTGAATGTCTACAAAGAATTAAATTAGTAGACAAGTATTGGTCTCAA
ATCAGCACATTGTTTTAGTGTGCTTGTAAAAATTTTGGTCACTGAAATAGAAATTACTACCAGA
TATGATACATGTTTGAGACCACATTCTCTTATTACCCCACTGTCCCCTAACCCCACCTTGATGT
GATTTATTCATTCAGAGTACTTAATTTAAGTACCTGCTTTAAATAGGAACCTGCTGTGAACTGG
GGCAAAATTTGAAAATGAAGAATATATGGAACCTGCCTTTAAGCATCTTTCTAAATATTATTTC
TCTAAGAAAAACATTTTTTAACTTTGGTTATATTTTCAGTGATGTTAGTCCTTCATGCTAAAAA
GGAAAGTGCTATATAACCTGATAATGAATTTAGGCAGTTTCAAGAGGTTAATTTCTGCAAGTGT
TTTTCCTTTTATGAGAAAAAAATTGTCTTTTTTCCTGAACTTATTTACTAACACGATATATTTT
AAGTATAGAAA

hide sequence

RefSeq Acc Id:

XM_047436353 ⟹ XP_047292309

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,143,133 - 32,225,727 (+)	NCBI

RefSeq Acc Id:

XM_047436354 ⟹ XP_047292310

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,171,047 - 32,221,128 (+)	NCBI

RefSeq Acc Id:

XM_047436355 ⟹ XP_047292311

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,143,148 - 32,225,727 (+)	NCBI

RefSeq Acc Id:

XM_047436356 ⟹ XP_047292312

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,171,047 - 32,221,160 (+)	NCBI

RefSeq Acc Id:

XM_047436357 ⟹ XP_047292313

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,160,040 - 32,225,727 (+)	NCBI

RefSeq Acc Id:

XM_047436358 ⟹ XP_047292314

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,152,835 - 32,225,727 (+)	NCBI

RefSeq Acc Id:

XM_047436359 ⟹ XP_047292315

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,143,161 - 32,225,727 (+)	NCBI

RefSeq Acc Id:

XM_047436360 ⟹ XP_047292316

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,152,868 - 32,225,727 (+)	NCBI

RefSeq Acc Id:

XM_047436361 ⟹ XP_047292317

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,142,502 - 32,221,186 (+)	NCBI

RefSeq Acc Id:

XM_047436362 ⟹ XP_047292318

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,142,502 - 32,217,380 (+)	NCBI

RefSeq Acc Id:

XM_047436363 ⟹ XP_047292319

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,160,040 - 32,225,727 (+)	NCBI

RefSeq Acc Id:

XM_047436364 ⟹ XP_047292320

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,142,502 - 32,225,727 (+)	NCBI

RefSeq Acc Id:

XM_054316613 ⟹ XP_054172588

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	33,088,897 - 33,171,497 (+)	NCBI

RefSeq Acc Id:

XM_054316614 ⟹ XP_054172589

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	33,116,816 - 33,166,930 (+)	NCBI

RefSeq Acc Id:

XM_054316615 ⟹ XP_054172590

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	33,116,816 - 33,166,898 (+)	NCBI

RefSeq Acc Id:

XM_054316616 ⟹ XP_054172591

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	33,088,912 - 33,171,497 (+)	NCBI

RefSeq Acc Id:

XM_054316617 ⟹ XP_054172592

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	33,116,816 - 33,166,930 (+)	NCBI

RefSeq Acc Id:

XM_054316618 ⟹ XP_054172593

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	33,105,787 - 33,171,497 (+)	NCBI

RefSeq Acc Id:

XM_054316619 ⟹ XP_054172594

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	33,088,266 - 33,159,011 (+)	NCBI

RefSeq Acc Id:

XM_054316620 ⟹ XP_054172595

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	33,098,604 - 33,171,497 (+)	NCBI

RefSeq Acc Id:

XM_054316621 ⟹ XP_054172596

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	33,088,925 - 33,171,497 (+)	NCBI

RefSeq Acc Id:

XM_054316622 ⟹ XP_054172597

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	33,098,637 - 33,171,497 (+)	NCBI

RefSeq Acc Id:

XM_054316623 ⟹ XP_054172598

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	33,088,266 - 33,166,956 (+)	NCBI

RefSeq Acc Id:

XM_054316624 ⟹ XP_054172599

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	33,088,266 - 33,159,011 (+)	NCBI

RefSeq Acc Id:

XM_054316625 ⟹ XP_054172600

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	33,116,816 - 33,171,497 (+)	NCBI

RefSeq Acc Id:

XM_054316626 ⟹ XP_054172601

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	33,088,266 - 33,171,497 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001028738	(Get FASTA)	NCBI Sequence Viewer
	NP_001028739	(Get FASTA)	NCBI Sequence Viewer
	NP_001028740	(Get FASTA)	NCBI Sequence Viewer
	NP_001275683	(Get FASTA)	NCBI Sequence Viewer
	NP_001275684	(Get FASTA)	NCBI Sequence Viewer
	NP_001275687	(Get FASTA)	NCBI Sequence Viewer
	NP_060777	(Get FASTA)	NCBI Sequence Viewer
	XP_011523271	(Get FASTA)	NCBI Sequence Viewer
	XP_011523275	(Get FASTA)	NCBI Sequence Viewer
	XP_047292309	(Get FASTA)	NCBI Sequence Viewer
	XP_047292310	(Get FASTA)	NCBI Sequence Viewer
	XP_047292311	(Get FASTA)	NCBI Sequence Viewer
	XP_047292312	(Get FASTA)	NCBI Sequence Viewer
	XP_047292313	(Get FASTA)	NCBI Sequence Viewer
	XP_047292314	(Get FASTA)	NCBI Sequence Viewer
	XP_047292315	(Get FASTA)	NCBI Sequence Viewer
	XP_047292316	(Get FASTA)	NCBI Sequence Viewer
	XP_047292317	(Get FASTA)	NCBI Sequence Viewer
	XP_047292318	(Get FASTA)	NCBI Sequence Viewer
	XP_047292319	(Get FASTA)	NCBI Sequence Viewer
	XP_047292320	(Get FASTA)	NCBI Sequence Viewer
	XP_054172588	(Get FASTA)	NCBI Sequence Viewer
	XP_054172589	(Get FASTA)	NCBI Sequence Viewer
	XP_054172590	(Get FASTA)	NCBI Sequence Viewer
	XP_054172591	(Get FASTA)	NCBI Sequence Viewer
	XP_054172592	(Get FASTA)	NCBI Sequence Viewer
	XP_054172593	(Get FASTA)	NCBI Sequence Viewer
	XP_054172594	(Get FASTA)	NCBI Sequence Viewer
	XP_054172595	(Get FASTA)	NCBI Sequence Viewer
	XP_054172596	(Get FASTA)	NCBI Sequence Viewer
	XP_054172597	(Get FASTA)	NCBI Sequence Viewer
	XP_054172598	(Get FASTA)	NCBI Sequence Viewer
	XP_054172599	(Get FASTA)	NCBI Sequence Viewer
	XP_054172600	(Get FASTA)	NCBI Sequence Viewer
	XP_054172601	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH15698	(Get FASTA)	NCBI Sequence Viewer
	AAH41114	(Get FASTA)	NCBI Sequence Viewer
	AAH51818	(Get FASTA)	NCBI Sequence Viewer
	AAH60781	(Get FASTA)	NCBI Sequence Viewer
	AAH68463	(Get FASTA)	NCBI Sequence Viewer
	AAI25105	(Get FASTA)	NCBI Sequence Viewer
	AAI25106	(Get FASTA)	NCBI Sequence Viewer
	AAM15734	(Get FASTA)	NCBI Sequence Viewer
	BAA91969	(Get FASTA)	NCBI Sequence Viewer
	BAB14185	(Get FASTA)	NCBI Sequence Viewer
	BAG57659	(Get FASTA)	NCBI Sequence Viewer
	CAB66863	(Get FASTA)	NCBI Sequence Viewer
	CAD43139	(Get FASTA)	NCBI Sequence Viewer
	CAD56956	(Get FASTA)	NCBI Sequence Viewer
	EAW80242	(Get FASTA)	NCBI Sequence Viewer
	EAW80243	(Get FASTA)	NCBI Sequence Viewer
	EAW80244	(Get FASTA)	NCBI Sequence Viewer
	EAW80245	(Get FASTA)	NCBI Sequence Viewer
	EAW80246	(Get FASTA)	NCBI Sequence Viewer
	EAW80247	(Get FASTA)	NCBI Sequence Viewer
	EAW80248	(Get FASTA)	NCBI Sequence Viewer
	EAW80249	(Get FASTA)	NCBI Sequence Viewer
	EAW80250	(Get FASTA)	NCBI Sequence Viewer
	EAW80251	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000334724
	ENSP00000334724.6
	ENSP00000346215
	ENSP00000346215.3
	ENSP00000351132
	ENSP00000351132.3
	ENSP00000378184
	ENSP00000378184.2
	ENSP00000439737
	ENSP00000439737.2
	ENSP00000461992.1
	ENSP00000462612.1
	ENSP00000462669.1
	ENSP00000462698.2
	ENSP00000463532.1
	ENSP00000464094.1
	ENSP00000464674.1
	ENSP00000464851.1
	ENSP00000467272.1
	ENSP00000494075.1
	ENSP00000498380.1
GenBank Protein	Q8IXI2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001028738 ⟸ NM_001033566
- Peptide Label:	isoform 2
- UniProtKB:	Q8IXI2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MKKDVRILLVGEPRVGKTSLIMSLVSEEFPEEVPPRAEEITIPADVTPERVPTHIVDYSEAEQS DEQLHQEISQANVICIVYAVNNKHSIDKVTSRWIPLINERTDKDSRLPLILVGNKSDLVEYSSM ETILPIMNQYTEIETCVECSAKNLKNISELFYYAQKAVLHPTGPLYCPEEKEMKPACIKALTRI FKISDQDNDGTLNDAELNFFQRICFNTPLAPQALEDVKNVVRKHISDGVADSGLTLKGFLFLHT LFIQRGRHETTWTVLRRFGYDDDLDLTPEYLFPLLKIPPDCTTELNHHAYLFLQSTFDKHDLDR DCALSPDELKDLFKVFPYIPWGPDVNNTVCTNERGWITYQGFLSQWTLTTYLDVQRCLEYLGYL GYSILTEQESQASAVTVTRDKKIDLQKKQTQRNVFRCNVIGVKNCGKSGVLQALLGRNLMRQKK IREDHKSYYAINTVYVYGQEKYLLLHDISESEFLTEAEIICDVVCLVYDVSNPKSFEYCARIFK QHFMDSRIPCLIVAAKSDLHEVKQEYSISPTDFCRKHKMPPPQAFTCNTADAPSKDIFVKLTTM AMYPHARLRCMCTCNRCTFCICQNFLNSDLLQSVKNKIFTAVLNRHVTQADLKSSTFWLRASFG ATVFAVLGFAMYKALLKQR hide sequence

RefSeq Acc Id:	NP_001028740 ⟸ NM_001033568
- Peptide Label:	isoform 1
- UniProtKB:	Q8IXI2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MKKDVRILLVGEPRVGKTSLIMSLVSEEFPEEVPPRAEEITIPADVTPERVPTHIVDYSEAEQS DEQLHQEISQANVICIVYAVNNKHSIDKVTSRWIPLINERTDKDSRLPLILVGNKSDLVEYSSM ETILPIMNQYTEIETCVECSAKNLKNISELFYYAQKAVLHPTGPLYCPEEKEMKPACIKALTRI FKISDQDNDGTLNDAELNFFQRICFNTPLAPQALEDVKNVVRKHISDGVADSGLTLKGFLFLHT LFIQRGRHETTWTVLRRFGYDDDLDLTPEYLFPLLKIPPDCTTELNHHAYLFLQSTFDKHDLDR DCALSPDELKDLFKVFPYIPWGPDVNNTVCTNERGWITYQGFLSQWTLTTYLDVQRCLEYLGYL GYSILTEQESQASAVTVTRDKKIDLQKKQTQRNVFRCNVIGVKNCGKSGVLQALLGRNLMRQKK IREDHKSYYAINTVYVYGQEKYLLLHDISESEFLTEAEIICDVVCLVYDVSNPKSFEYCARIFK QHFMDSRIPCLIVAAKSDLHEVKQEYSISPTDFCRKHKMPPPQAFTCNTADAPSKDIFVKLTTM AMYPEDHYRDRLSRDMGHTDRIENLRKIWVFLKTAFHARLRCMCTCNRCTFCICQNFLNSDLLQ SVKNKIFTAVLNRHVTQADLKSSTFWLRASFGATVFAVLGFAMYKALLKQR hide sequence

RefSeq Acc Id:	NP_060777 ⟸ NM_018307
- Peptide Label:	isoform 3
- UniProtKB:	Q9H9N8 (UniProtKB/Swiss-Prot), Q9H067 (UniProtKB/Swiss-Prot), Q8IXJ7 (UniProtKB/Swiss-Prot), Q8IW28 (UniProtKB/Swiss-Prot), Q86UB0 (UniProtKB/Swiss-Prot), Q6YMW8 (UniProtKB/Swiss-Prot), Q6PJG1 (UniProtKB/Swiss-Prot), Q6P9F8 (UniProtKB/Swiss-Prot), Q6NUR3 (UniProtKB/Swiss-Prot), J9JIH9 (UniProtKB/Swiss-Prot), B4DG48 (UniProtKB/Swiss-Prot), A6NFV0 (UniProtKB/Swiss-Prot), A4FVB6 (UniProtKB/Swiss-Prot), Q9NUZ2 (UniProtKB/Swiss-Prot), Q8IXI2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MKKDVRILLVGEPRVGKTSLIMSLVSEEFPEEVPPRAEEITIPADVTPERVPTHIVDYSEAEQS DEQLHQEISQANVICIVYAVNNKHSIDKVTSRWIPLINERTDKDSRLPLILVGNKSDLVEYSSM ETILPIMNQYTEIETCVECSAKNLKNISELFYYAQKAVLHPTGPLYCPEEKEMKPACIKALTRI FKISDQDNDGTLNDAELNFFQRICFNTPLAPQALEDVKNVVRKHISDGVADSGLTLKGFLFLHT LFIQRGRHETTWTVLRRFGYDDDLDLTPEYLFPLLKIPPDCTTELNHHAYLFLQSTFDKHDLDR DCALSPDELKDLFKVFPYIPWGPDVNNTVCTNERGWITYQGFLSQWTLTTYLDVQRCLEYLGYL GYSILTEQESQASAVTVTRDKKIDLQKKQTQRNVFRCNVIGVKNCGKSGVLQALLGRNLMRQKK IREDHKSYYAINTVYVYGQEKYLLLHDISESEFLTEAEIICDVVCLVYDVSNPKSFEYCARIFK QHFMDSRIPCLIVAAKSDLHEVKQEYSISPTDFCRKHKMPPPQAFTCNTADAPSKDIFVKLTTM AMYPHVTQADLKSSTFWLRASFGATVFAVLGFAMYKALLKQR hide sequence

RefSeq Acc Id:	NP_001275687 ⟸ NM_001288758
- Peptide Label:	isoform 7
- UniProtKB:	Q8IXI2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence METILPIMNQYTEIETCVECSAKNLKNISELFYYAQKAVLHPTGPLYCPEEKEMKPACIKALTR IFKISDQDNDGTLNDAELNFFQRICFNTPLAPQALEDVKNVVRKHISDGVADSGLTLKGFLFLH TLFIQRGRHETTWTVLRRFGYDDDLDLTPEYLFPLLKIPPDCTTELNHHAYLFLQSTFDKHDLD RDCALSPDELKDLFKVFPYIPWGPDVNNTVCTNERGWITYQGFLSQWTLTTYLDVQRCLEYLGY LGYSILTEQESQASAVTVTRDKKIDLQKKQTQRNVFRCNVIGVKNCGKSGVLQALLGRNLMRQK KIREDHKSYYAINTVYVYGQEKYLLLHDISESEFLTEAEIICDVVCLVYDVSNPKSFEYCARIF KQHFMDSRIPCLIVAAKSDLHEVKQEYSISPTDFCRKHKMPPPQAFTCNTADAPSKDIFVKLTT MAMYPEDHYRDRLSRDMGHTDRIENLRKIWVFLKTALHVTQADLKSSTFWLRASFGATVFAVLG FAMYKALLKQR hide sequence

RefSeq Acc Id:	NP_001028739 ⟸ NM_001033567
- Peptide Label:	isoform 4
- UniProtKB:	Q8IXI2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence METILPIMNQYTEIETCVECSAKNLKNISELFYYAQKAVLHPTGPLYCPEEKEMKPACIKALTR IFKISDQDNDGTLNDAELNFFQRICFNTPLAPQALEDVKNVVRKHISDGVADSGLTLKGFLFLH TLFIQRGRHETTWTVLRRFGYDDDLDLTPEYLFPLLKIPPDCTTELNHHAYLFLQSTFDKHDLD RDCALSPDELKDLFKVFPYIPWGPDVNNTVCTNERGWITYQGFLSQWTLTTYLDVQRCLEYLGY LGYSILTEQESQASAVTVTRDKKIDLQKKQTQRNVFRCNVIGVKNCGKSGVLQALLGRNLMRQK KIREDHKSYYAINTVYVYGQEKYLLLHDISESEFLTEAEIICDVVCLVYDVSNPKSFEYCARIF KQHFMDSRIPCLIVAAKSDLHEVKQEYSISPTDFCRKHKMPPPQAFTCNTADAPSKDIFVKLTT MAMYPHVTQADLKSSTFWLRASFGATVFAVLGFAMYKALLKQR hide sequence

RefSeq Acc Id:	NP_001275683 ⟸ NM_001288754
- Peptide Label:	isoform 5
- UniProtKB:	Q8IXI2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MKKDVRILLVGEPRVGKTSLIMSLVSEEFPEEVPPRAEEITIPADVTPERVPTHIVDYSEAEQS DEQLHQEISQANVICIVYAVNNKHSIDKVTSRWIPLINERTDKDSRLPLILVGNKSDLVEYSSM ETILPIMNQYTEIETCVECSAKNLKNISELFYYAQKAVLHPTGPLYCPEEKEMKPACIKALTRI FKISDQDNDGTLNDAELNFFQRICFNTPLAPQALEDVKNVVRKHISDGVADSGLTLKGFLFLHT LFIQRGRHETTWTVLRRFGYDDDLDLTPEYLFPLLKIPPDCTTELNHHAYLFLQSTFDKHDLDR DCALSPDELKDLFKVFPYIPWGPDVNNTVCTNERGWITYQGFLSQWTLTTYLDVQRCLEYLGYL GYSILTEQESQASAVTVTRDKKIDLQKKQTQRNVFRCNVIGVKNCGKSGVLQALLGRNLMRQKK IREDHKSYYAINTVYVYGQEKYLLLHDISESEFLTEAEIICDVVCLVYDVSNPKSFEYCARIFK QHFMDSRIPCLIVAAKSDLHEVKQEYSISPTDFCRKHKMPPPQAFTCNTADAPSKDIFVKLTTM AMYPEDHYRDRLSRDMGHTDRIENLRKIWVFLKTALHVTQADLKSSTFWLRASFGATVFAVLGF AMYKALLKQR hide sequence

RefSeq Acc Id:	NP_001275684 ⟸ NM_001288755
- Peptide Label:	isoform 6
- UniProtKB:	H7BXZ6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSLVSEEFPEEVPPRAEEITIPADVTPERVPTHIVDYSEAEQSDEQLHQEISQANVICIVYAVN NKHSIDKVTSRWIPLINERTDKDSRLPLILVGNKSDLVEYSSMETILPIMNQYTEIETCVECSA KNLKNISELFYYAQKAVLHPTGPLYCPEEKEMKPACIKALTRIFKISDQDNDGTLNDAELNFFQ RICFNTPLAPQALEDVKNVVRKHISDGVADSGLTLKGFLFLHTLFIQRGRHETTWTVLRRFGYD DDLDLTPEYLFPLLKIPPDCTTELNHHAYLFLQSTFDKHDLDRDCALSPDELKDLFKVFPYIPW GPDVNNTVCTNERGWITYQGFLSQWTLTTYLDVQRCLEYLGYLGYSILTEQESQASAVTVTRDK KIDLQKKQTQRNVFRCNVIGVKNCGKSGVLQALLGRNLMRQKKIREDHKSYYAINTVYVYGQEK YLLLHDISESEFLTEAEIICDVVCLVYDVSNPKSFEYCARIFKQHFMDSRIPCLIVAAKSDLHE VKQEYSISPTDFCRKHKMPPPQAFTCNTADAPSKDIFVKLTTMAMYPHVTQADLKSSTFWLRAS FGATVFAVLGFAMYKALLKQR hide sequence

RefSeq Acc Id:

XP_011523271 ⟸ XM_011524969

- Peptide Label:

isoform X2

- Sequence:

show sequence

MSLVSEEFPEEVPPRAEEITIPADVTPERVPTHIVDYSEAEQSDEQLHQEISQANVICIVYAVN
NKHSIDKVTSRWIPLINERTDKDSRLPLILVGNKSDLVEYSSMETILPIMNQYTEIETCVECSA
KNLKNISELFYYAQKAVLHPTGPLYCPEEKEMKPACIKALTRIFKISDQDNDGTLNDAELNFFQ
RICFNTPLAPQALEDVKNVVRKHISDGVADSGLTLKGFLFLHTLFIQRGRHETTWTVLRRFGYD
DDLDLTPEYLFPLLKIPPDCTTELNHHAYLFLQSTFDKHDLDRDCALSPDELKDLFKVFPYIPW
GPDVNNTVCTNERGWITYQGFLSQWTLTTYLDVQRCLEYLGYLGYSILTEQESQASAVTVTRDK
KIDLQKKQTQRNVFRCNVIGVKNCGKSGVLQALLGRNLMRQKKIREDHKSYYAINTVYVYGQEK
YLLLHDISESEFLTEAEIICDVVCLVYDVSNPKSFEYCARIFKQHFMDSRIPCLIVAAKSDLHE
VKQEYSISPTDFCRKHKMPPPQAFTCNTADAPSKDIFVKLTTMAMYPEDHYRDRLSRDMGHTDR
IENLRKIWVFLKTAFHARLRCMCTCNRCTFCICQNFLNSDLLQSVKNKIFTAVLNSLEMSQKRP
GVVAHACNLSTFGSRGGWIT

hide sequence

RefSeq Acc Id:

XP_011523275 ⟸ XM_011524973

- Peptide Label:

isoform X7

- Sequence:

show sequence

MKKDVRILLVGEPRVGKTSLIMSLVSEEFPEEVPPRAEEITIPADVTPERVPTHIVDYSEAEQS
DEQLHQEISQANVICIVYAVNNKHSIDKVTSRWIPLINERTDKDSRLPLILVGNKSDLVEYSSM
ETILPIMNQYTEIETCVECSAKNLKNISELFYYAQKAVLHPTGPLYCPEEKEMKPACIKALTRI
FKISDQDNDGTLNDAELNFFQRICFNTPLAPQALEDVKNVVRKHISDGVADSGLTLKGFLFLHT
LFIQRGRHETTWTVLRRFGYDDDLDLTPEYLFPLLKIPPDCTTELNHHAYLFLQSTFDKHDLDR
DCALSPDELKDLFKVFPYIPWGPDVNNTVCTNERGWITYQGFLSQWTLTTYLDVQRCLEYLGYL
GYSILTEQESQASAVTVTRDKKIDLQKKQTQRNVFRCNVIGVKNCGKSGVLQALLGRNLMRQKK
IREDHKSYYAINTVYVYGQEKYLLLHDISESEFLTEAEIICDVVCLVYDVSNPKSFEYCARIFK
QHFMDSRIPCLIVAAKSDLHEVKQEYSISPTDFCRKHKMPPPQAFTCNTADAPSKDIFVKLTTM
AMYPEDHYRDRLSRDMGHTDRIENLRKIWVFLKTAFHARLRCMCTCNRCTFCICQNFLNSDLLQ
SVKNKIFTAVLNSFSSAL

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RefSeq Acc Id:

ENSP00000463532 ⟸ ENST00000580392

RefSeq Acc Id:

ENSP00000462669 ⟸ ENST00000581094

RefSeq Acc Id:

ENSP00000464094 ⟸ ENST00000581031

RefSeq Acc Id:

ENSP00000467272 ⟸ ENST00000581148

RefSeq Acc Id:

ENSP00000464851 ⟸ ENST00000582602

RefSeq Acc Id:

ENSP00000334724 ⟸ ENST00000333942

RefSeq Acc Id:

ENSP00000462698 ⟸ ENST00000583994

RefSeq Acc Id:

ENSP00000439737 ⟸ ENST00000545287

RefSeq Acc Id:

ENSP00000461992 ⟸ ENST00000584852

RefSeq Acc Id:

ENSP00000464674 ⟸ ENST00000584692

RefSeq Acc Id:

ENSP00000498380 ⟸ ENST00000652713

RefSeq Acc Id:

ENSP00000462612 ⟸ ENST00000578205

RefSeq Acc Id:

ENSP00000346215 ⟸ ENST00000354266

RefSeq Acc Id:

ENSP00000378184 ⟸ ENST00000394692

RefSeq Acc Id:

ENSP00000494075 ⟸ ENST00000646284

RefSeq Acc Id:

ENSP00000351132 ⟸ ENST00000358365

RefSeq Acc Id:	XP_047292320 ⟸ XM_047436364
- Peptide Label:	isoform X13

RefSeq Acc Id:	XP_047292317 ⟸ XM_047436361
- Peptide Label:	isoform X11

RefSeq Acc Id:	XP_047292318 ⟸ XM_047436362
- Peptide Label:	isoform X12

RefSeq Acc Id:	XP_047292309 ⟸ XM_047436353
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_047292311 ⟸ XM_047436355
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_047292315 ⟸ XM_047436359
- Peptide Label:	isoform X9

RefSeq Acc Id:	XP_047292314 ⟸ XM_047436358
- Peptide Label:	isoform X8

RefSeq Acc Id:	XP_047292316 ⟸ XM_047436360
- Peptide Label:	isoform X10

RefSeq Acc Id:	XP_047292319 ⟸ XM_047436363
- Peptide Label:	isoform X13

RefSeq Acc Id:	XP_047292313 ⟸ XM_047436357
- Peptide Label:	isoform X6

RefSeq Acc Id:	XP_047292312 ⟸ XM_047436356
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_047292310 ⟸ XM_047436354
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054172601 ⟸ XM_054316626
- Peptide Label:	isoform X13

RefSeq Acc Id:	XP_054172598 ⟸ XM_054316623
- Peptide Label:	isoform X11

RefSeq Acc Id:	XP_054172594 ⟸ XM_054316619
- Peptide Label:	isoform X7

RefSeq Acc Id:	XP_054172599 ⟸ XM_054316624
- Peptide Label:	isoform X12

RefSeq Acc Id:	XP_054172588 ⟸ XM_054316613
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054172591 ⟸ XM_054316616
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054172596 ⟸ XM_054316621
- Peptide Label:	isoform X9

RefSeq Acc Id:	XP_054172595 ⟸ XM_054316620
- Peptide Label:	isoform X8

RefSeq Acc Id:	XP_054172597 ⟸ XM_054316622
- Peptide Label:	isoform X10

RefSeq Acc Id:	XP_054172593 ⟸ XM_054316618
- Peptide Label:	isoform X6

RefSeq Acc Id:	XP_054172600 ⟸ XM_054316625
- Peptide Label:	isoform X13

RefSeq Acc Id:	XP_054172589 ⟸ XM_054316614
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054172592 ⟸ XM_054316617
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054172590 ⟸ XM_054316615
- Peptide Label:	isoform X3

Protein Domains

EF-hand Miro

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8IXI2-F1-model_v2	AlphaFold	Q8IXI2	1-618	view protein structure

Promoters

RGD ID:

6794031

Promoter ID:

HG_KWN:25722

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000333942, ENST00000378607, ENST00000394692, NM_001033566, NM_001033568, UC002HGV.2, UC002HGX.1, UC002HHA.1, UC002HHB.1, UC010CSV.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	17	27,492,696 - 27,493,592 (+)	MPROMDB

RGD ID:

7234553

Promoter ID:

EPDNEW_H23023

Type:

initiation region

Name:

RHOT1_1

Description:

ras homolog family member T1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	32,142,502 - 32,142,562	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:21168	AgrOrtholog
COSMIC	RHOT1	COSMIC
Ensembl Genes	ENSG00000126858	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000333942	ENTREZGENE
	ENST00000333942.10	UniProtKB/Swiss-Prot
	ENST00000354266	ENTREZGENE
	ENST00000354266.7	UniProtKB/TrEMBL
	ENST00000358365	ENTREZGENE
	ENST00000358365.7	UniProtKB/Swiss-Prot
	ENST00000394692	ENTREZGENE
	ENST00000394692.6	UniProtKB/Swiss-Prot
	ENST00000545287	ENTREZGENE
	ENST00000545287.7	UniProtKB/Swiss-Prot
	ENST00000578205.5	UniProtKB/TrEMBL
	ENST00000580392.5	UniProtKB/TrEMBL
	ENST00000581031	ENTREZGENE
	ENST00000581031.5	UniProtKB/Swiss-Prot
	ENST00000581094.5	UniProtKB/Swiss-Prot
	ENST00000581148.1	UniProtKB/TrEMBL
	ENST00000582602.5	UniProtKB/TrEMBL
	ENST00000583994.5	UniProtKB/TrEMBL
	ENST00000584692.1	UniProtKB/TrEMBL
	ENST00000584852.1	UniProtKB/TrEMBL
	ENST00000646284.1	UniProtKB/TrEMBL
	ENST00000652713.1	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.300	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EF-hand	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000126858	GTEx
HGNC ID	HGNC:21168	ENTREZGENE
Human Proteome Map	RHOT1	Human Proteome Map
InterPro	EF-hand-dom_pair	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EF_Hand_1_Ca_BS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EF_hand_assoc_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EF_hand_assoc_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EF_hand_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Miro	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MIRO_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	P-loop_NTPase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Small_GTP-bd_dom	UniProtKB/Swiss-Prot
	Small_GTPase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Small_GTPase_Rho	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:55288	UniProtKB/Swiss-Prot
NCBI Gene	55288	ENTREZGENE
OMIM	613888	OMIM
PANTHER	PTHR24072	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR24072:SF124	UniProtKB/TrEMBL
Pfam	EF_assoc_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EF_assoc_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ras	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134906318	PharmGKB
PIRSF	Mt_Rho_GTPase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS	RASTRNSFRMNG	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	EF_HAND_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EF_HAND_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MIRO	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	EFh	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RAB	UniProtKB/Swiss-Prot
	RAS	UniProtKB/Swiss-Prot
	RHO	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF47473	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF52540	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A2R8Y4I2_HUMAN	UniProtKB/TrEMBL
	A0A494C061_HUMAN	UniProtKB/TrEMBL
	A4FVB6	ENTREZGENE
	A6NFV0	ENTREZGENE
	B4DG48	ENTREZGENE
	H7BXZ6	ENTREZGENE, UniProtKB/TrEMBL
	J3KRG7_HUMAN	UniProtKB/TrEMBL
	J3KSR5_HUMAN	UniProtKB/TrEMBL
	J3QLG2_HUMAN	UniProtKB/TrEMBL
	J3QSG2_HUMAN	UniProtKB/TrEMBL
	J9JIH9	ENTREZGENE
	K7EIQ7_HUMAN	UniProtKB/TrEMBL
	K7EP86_HUMAN	UniProtKB/TrEMBL
	MIRO1_HUMAN	UniProtKB/Swiss-Prot
	Q6NUR3	ENTREZGENE
	Q6P9F8	ENTREZGENE
	Q6PJG1	ENTREZGENE
	Q6YMW8	ENTREZGENE
	Q86UB0	ENTREZGENE
	Q8IW28	ENTREZGENE
	Q8IXI2	ENTREZGENE
	Q8IXJ7	ENTREZGENE
	Q9H067	ENTREZGENE
	Q9H9N8	ENTREZGENE
	Q9NUZ2	ENTREZGENE
UniProt Secondary	A4FVB6	UniProtKB/Swiss-Prot
	A6NFV0	UniProtKB/Swiss-Prot
	B4DG48	UniProtKB/Swiss-Prot
	J3KSX7	UniProtKB/TrEMBL
	J9JIH9	UniProtKB/Swiss-Prot
	Q6NUR3	UniProtKB/Swiss-Prot
	Q6P9F8	UniProtKB/Swiss-Prot
	Q6PJG1	UniProtKB/Swiss-Prot
	Q6YMW8	UniProtKB/Swiss-Prot
	Q86UB0	UniProtKB/Swiss-Prot
	Q8IW28	UniProtKB/Swiss-Prot
	Q8IXJ7	UniProtKB/Swiss-Prot
	Q9H067	UniProtKB/Swiss-Prot
	Q9H9N8	UniProtKB/Swiss-Prot
	Q9NUZ2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2012-03-01	RHOT1	ras homolog family member T1	RHOT1	ras homolog gene family, member T1	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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Imported Disease Annotations - MGI

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Imported Disease Annotations - ClinVar

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