ASPH (aspartate beta-hydroxylase) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: ASPH (aspartate beta-hydroxylase) Homo sapiens
Analyze
Symbol: ASPH
Name: aspartate beta-hydroxylase
RGD ID: 1323751
HGNC Page HGNC:757
Description: Enables calcium ion binding activity. Involved in several processes, including positive regulation of nitrogen compound metabolic process; positive regulation of transport; and response to ATP. Located in cortical endoplasmic reticulum; endoplasmic reticulum membrane; and plasma membrane. Implicated in cholangiocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A beta H-J-J; AAH; ASP beta-hydroxylase; aspartyl/asparaginyl beta-hydroxylase; aspartyl/asparaginyl-beta-hydroxylase; BAH; cardiac junctin; CASQ2BP1; FDLAB; HAAH; humbug; JCTN; junctate; junctin; peptide-aspartate beta-dioxygenase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38861,500,556 - 61,714,592 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl861,500,556 - 61,714,640 (-)EnsemblGRCh38hg38GRCh38
GRCh37862,413,115 - 62,627,151 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36862,578,374 - 62,789,560 (-)NCBINCBI36Build 36hg18NCBI36
Build 34862,699,648 - 62,764,919NCBI
Celera858,402,958 - 58,617,392 (-)NCBICelera
Cytogenetic Map8q12.3NCBI
HuRef857,901,587 - 58,116,117 (-)NCBIHuRef
CHM1_1862,465,102 - 62,679,146 (-)NCBICHM1_1
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
avobenzone  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
choline  (ISO)
chromium atom  (ISO)
chromium(6+)  (ISO)
chrysene  (ISO)
clozapine  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dimethylarsinous acid  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
genistein  (ISO)
gentamycin  (ISO)
haloperidol  (EXP)
hydralazine  (EXP)
indometacin  (EXP)
isoflavones  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lead diacetate  (EXP)
lead(0)  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylparaben  (EXP)
nicotinic acid  (ISO)
paracetamol  (EXP,ISO)
parathion  (EXP)
PCB138  (ISO)
perfluorooctanoic acid  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
resveratrol  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
Soman  (ISO)
succimer  (EXP,ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thapsigargin  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
warfarin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

References

References - curated
# Reference Title Reference Citation
1. Detection of human aspartyl (asparaginyl) beta-hydroxylase and homeobox B7 mRNA in brush cytology specimens from patients with bile duct cancer. Feldmann G, etal., Endoscopy. 2006 Jun;38(6):604-9. Epub 2006 Apr 27.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Immunization with aspartate-beta-hydroxylase-loaded dendritic cells produces antitumor effects in a rat model of intrahepatic cholangiocarcinoma. Noda T, etal., Hepatology. 2012 Jan;55(1):86-97. doi: 10.1002/hep.24629.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7821814   PMID:8823296   PMID:8889548   PMID:9287354   PMID:10767180   PMID:10956665   PMID:10974562   PMID:11007777   PMID:11069905   PMID:11991713   PMID:12118090   PMID:12130746  
PMID:12477932   PMID:12713872   PMID:14702039   PMID:15041652   PMID:15302852   PMID:15302935   PMID:16154531   PMID:16341145   PMID:16341674   PMID:16344560   PMID:16564107   PMID:16712791  
PMID:16949909   PMID:17020779   PMID:17156427   PMID:17207965   PMID:17400717   PMID:17500595   PMID:17569730   PMID:18288418   PMID:18387192   PMID:19087304   PMID:19197126   PMID:19200576  
PMID:19403607   PMID:19567751   PMID:19663697   PMID:20020773   PMID:20562859   PMID:21062895   PMID:21145461   PMID:21565611   PMID:21832049   PMID:21862239   PMID:21873635   PMID:22123818  
PMID:22586105   PMID:22810586   PMID:23438482   PMID:24412244   PMID:24768550   PMID:25394783   PMID:25416956   PMID:26186194   PMID:26209609   PMID:26344197   PMID:26638075   PMID:27365365  
PMID:27375898   PMID:27503909   PMID:28298427   PMID:28380382   PMID:28443643   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28611215   PMID:28675297   PMID:29117863   PMID:29180619  
PMID:29298432   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29580991   PMID:29615496   PMID:29733964   PMID:29737090   PMID:29764768   PMID:29802200   PMID:29872149   PMID:30021884  
PMID:30209976   PMID:30320934   PMID:30471916   PMID:30773093   PMID:30804502   PMID:30833792   PMID:30940648   PMID:31012784   PMID:31048545   PMID:31073040   PMID:31091453   PMID:31343991  
PMID:31527615   PMID:31536960   PMID:31586073   PMID:31659163   PMID:31694640   PMID:31807015   PMID:31888763   PMID:31980649   PMID:32107312   PMID:32129710   PMID:32149426   PMID:32296183  
PMID:32525968   PMID:32572027   PMID:32614325   PMID:32707033   PMID:32807901   PMID:32994395   PMID:33022573   PMID:33125119   PMID:33144569   PMID:33251883   PMID:33380715   PMID:33545068  
PMID:33658012   PMID:33731348   PMID:33887099   PMID:33957083   PMID:33961781   PMID:34018898   PMID:34079125   PMID:34433181   PMID:34597346   PMID:34650049   PMID:34709727   PMID:34718347  
PMID:34732716   PMID:35013218   PMID:35241646   PMID:35253629   PMID:35256949   PMID:35271311   PMID:35562734   PMID:35563538   PMID:35681168   PMID:35696571   PMID:35833506   PMID:35850772  
PMID:35864588   PMID:35918038   PMID:35944360   PMID:36215168   PMID:36217030   PMID:36244648   PMID:36470425   PMID:36526897   PMID:36527092   PMID:36604567   PMID:36897757   PMID:37120454  
PMID:37132101   PMID:37536630   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
ASPH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38861,500,556 - 61,714,592 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl861,500,556 - 61,714,640 (-)EnsemblGRCh38hg38GRCh38
GRCh37862,413,115 - 62,627,151 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36862,578,374 - 62,789,560 (-)NCBINCBI36Build 36hg18NCBI36
Build 34862,699,648 - 62,764,919NCBI
Celera858,402,958 - 58,617,392 (-)NCBICelera
Cytogenetic Map8q12.3NCBI
HuRef857,901,587 - 58,116,117 (-)NCBIHuRef
CHM1_1862,465,102 - 62,679,146 (-)NCBICHM1_1
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBIT2T-CHM13v2.0
Asph
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3949,449,085 - 9,669,344 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl49,448,069 - 9,669,344 (-)EnsemblGRCm39 Ensembl
GRCm3849,449,085 - 9,669,344 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl49,448,069 - 9,669,344 (-)EnsemblGRCm38mm10GRCm38
MGSCv3749,376,232 - 9,596,309 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3649,376,232 - 9,596,231 (-)NCBIMGSCv36mm8
Celera49,289,732 - 9,501,866 (-)NCBICelera
Cytogenetic Map4A1NCBI
cM Map44.17NCBI
Asph
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8527,398,933 - 27,611,519 (-)NCBIGRCr8
mRatBN7.2522,601,581 - 22,814,107 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl522,603,486 - 22,813,876 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx524,829,597 - 25,041,330 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0526,421,579 - 26,633,838 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0526,201,866 - 26,414,127 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0522,577,680 - 22,799,333 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl522,577,675 - 22,799,349 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0527,312,094 - 27,529,901 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4523,495,780 - 23,520,672 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1523,337,888 - 23,733,050 (-)NCBI
Celera521,856,777 - 22,069,140 (-)NCBICelera
Cytogenetic Map5q13NCBI
Asph
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544417,121,559 - 17,318,295 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544417,116,060 - 17,320,966 (+)NCBIChiLan1.0ChiLan1.0
ASPH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2777,157,601 - 77,371,678 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1852,817,397 - 53,030,622 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0857,921,580 - 58,134,778 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1859,629,707 - 59,843,921 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl859,629,707 - 59,843,658 (-)Ensemblpanpan1.1panPan2
ASPH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12911,812,275 - 12,022,755 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2911,814,554 - 12,022,680 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2912,127,227 - 12,309,441 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02911,908,475 - 12,120,515 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2911,910,753 - 12,120,515 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12911,900,440 - 12,082,741 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02912,036,855 - 12,218,830 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02912,307,233 - 12,489,655 (-)NCBIUU_Cfam_GSD_1.0
Asph
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530362,970,453 - 63,180,486 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649611,604,680 - 11,816,852 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649611,604,992 - 11,815,680 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASPH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl471,903,318 - 72,107,044 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1471,902,891 - 72,107,047 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2478,382,152 - 78,505,768 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ASPH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1857,378,019 - 57,599,812 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl857,375,894 - 57,565,259 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603984,051,765 - 84,274,334 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Asph
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474430,190,513 - 30,418,467 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474430,190,625 - 30,420,501 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASPH
123 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13
pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1 copy number loss See cases [RCV000054241] Chr8:56925812..61691859 [GRCh38]
Chr8:57838371..62604418 [GRCh37]
Chr8:58000925..62766972 [NCBI36]
Chr8:8q12.1-12.3
pathogenic
NM_004318.3(ASPH):c.1626+1286T>G single nucleotide variant Lung cancer [RCV000107574] Chr8:61551745 [GRCh38]
Chr8:62464304 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.3(ASPH):c.977-17359T>C single nucleotide variant Lung cancer [RCV000107575] Chr8:61601388 [GRCh38]
Chr8:62513947 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1852_1856delinsGGG (p.Asn618fs) indel Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV000125463] Chr8:61526021..61526025 [GRCh38]
Chr8:62438580..62438584 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004318.4(ASPH):c.2203C>T (p.Arg735Trp) single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV000125464] Chr8:61503433 [GRCh38]
Chr8:62415992 [GRCh37]
Chr8:8q12.3
pathogenic
GRCh38/hg38 8q12.2-13.1(chr8:60816393-65117062)x1 copy number loss See cases [RCV000133649] Chr8:60816393..65117062 [GRCh38]
Chr8:61728952..66029297 [GRCh37]
Chr8:61891506..66191851 [NCBI36]
Chr8:8q12.2-13.1
pathogenic
NM_004318.4(ASPH):c.1394del (p.Leu465fs) deletion Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV003126308] Chr8:61562787 [GRCh38]
Chr8:62475346 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004318.4(ASPH):c.1626+10A>G single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554124]|not provided [RCV001615315] Chr8:61553021 [GRCh38]
Chr8:62465580 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1301-79C>G single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554126]|not provided [RCV001619979] Chr8:61562959 [GRCh38]
Chr8:62475518 [GRCh37]
Chr8:8q12.3
benign
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2
pathogenic
GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3 copy number gain See cases [RCV000134830] Chr8:60519222..66659025 [GRCh38]
Chr8:61431781..67571260 [GRCh37]
Chr8:61594335..67733814 [NCBI36]
Chr8:8q12.1-13.1
pathogenic
GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 copy number gain See cases [RCV000137672] Chr8:55315854..64952752 [GRCh38]
Chr8:56228414..65864987 [GRCh37]
Chr8:56390968..66027541 [NCBI36]
Chr8:8q12.1-12.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q12.3(chr8:61424146-62002003)x3 copy number gain See cases [RCV000140863] Chr8:61424146..62002003 [GRCh38]
Chr8:62336705..62914562 [GRCh37]
Chr8:62499259..63077116 [NCBI36]
Chr8:8q12.3
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 copy number loss See cases [RCV000143182] Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 copy number gain See cases [RCV000239428] Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3
pathogenic
NM_004318.4(ASPH):c.1782G>A (p.Trp594Ter) single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001580280] Chr8:61526095 [GRCh38]
Chr8:62438654 [GRCh37]
Chr8:8q12.3
pathogenic
GRCh37/hg19 8q12.3(chr8:62459659-62474645)x1 copy number loss See cases [RCV000446295] Chr8:62459659..62474645 [GRCh37]
Chr8:8q12.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q12.3(chr8:62207084-62604359)x1 copy number loss See cases [RCV000448398] Chr8:62207084..62604359 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.518del (p.Asp173fs) deletion not provided [RCV000484490] Chr8:61646851 [GRCh38]
Chr8:62559410 [GRCh37]
Chr8:8q12.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q12.2-12.3(chr8:62172667-62616116)x1 copy number loss See cases [RCV000511736] Chr8:62172667..62616116 [GRCh37]
Chr8:8q12.2-12.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_004318.4(ASPH):c.1388G>A (p.Gly463Glu) single nucleotide variant Inborn genetic diseases [RCV003273360] Chr8:61562793 [GRCh38]
Chr8:62475352 [GRCh37]
Chr8:8q12.3
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_004318.4(ASPH):c.1273C>T (p.Arg425Cys) single nucleotide variant not provided [RCV000597816] Chr8:61567195 [GRCh38]
Chr8:62479754 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.791-15dup duplication not provided [RCV001574055]|not specified [RCV001700791] Chr8:61638365..61638366 [GRCh38]
Chr8:62550924..62550925 [GRCh37]
Chr8:8q12.3
benign|likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_004318.4(ASPH):c.1347A>G (p.Leu449=) single nucleotide variant not provided [RCV000895713] Chr8:61562834 [GRCh38]
Chr8:62475393 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter) single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001542582] Chr8:61548140 [GRCh38]
Chr8:62460699 [GRCh37]
Chr8:8q12.3
pathogenic|likely pathogenic
NM_004318.4(ASPH):c.1900+6T>C single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554123]|not provided [RCV001676059] Chr8:61525971 [GRCh38]
Chr8:62438530 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.416-81T>C single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554179]|not provided [RCV001725231] Chr8:61651205 [GRCh38]
Chr8:62563764 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1627-101G>A single nucleotide variant not provided [RCV001668002] Chr8:61548309 [GRCh38]
Chr8:62460868 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.171G>A (p.Trp57Ter) single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV000761586] Chr8:61684121 [GRCh38]
Chr8:62596680 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004318.4(ASPH):c.416-35C>A single nucleotide variant not provided [RCV001669569] Chr8:61651159 [GRCh38]
Chr8:62563718 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.620-5del deletion not provided [RCV001572725]|not specified [RCV001701199] Chr8:61644637 [GRCh38]
Chr8:62557196 [GRCh37]
Chr8:8q12.3
benign|likely benign
NM_004318.4(ASPH):c.758-13dup duplication not provided [RCV001573890]|not specified [RCV001727899] Chr8:61642923..61642924 [GRCh38]
Chr8:62555482..62555483 [GRCh37]
Chr8:8q12.3
benign|likely benign
NM_004318.4(ASPH):c.790+32dup duplication not provided [RCV001678617] Chr8:61642845..61642846 [GRCh38]
Chr8:62555404..62555405 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1627-251A>G single nucleotide variant not provided [RCV001709279] Chr8:61548459 [GRCh38]
Chr8:62461018 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.69G>T (p.Thr23=) single nucleotide variant not provided [RCV000882511]|not specified [RCV001796302] Chr8:61714303 [GRCh38]
Chr8:62626862 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1020T>C (p.Thr340=) single nucleotide variant not provided [RCV000969892] Chr8:61583986 [GRCh38]
Chr8:62496545 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.147C>T (p.Leu49=) single nucleotide variant not provided [RCV000954173] Chr8:61684145 [GRCh38]
Chr8:62596704 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.1402G>A (p.Gly468Arg) single nucleotide variant not provided [RCV000888116] Chr8:61562779 [GRCh38]
Chr8:62475338 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1972A>G (p.Thr658Ala) single nucleotide variant not provided [RCV000914098] Chr8:61518052 [GRCh38]
Chr8:62430611 [GRCh37]
Chr8:8q12.3
likely benign
GRCh37/hg19 8q12.3(chr8:62544294-63317174)x3 copy number gain not provided [RCV000848562] Chr8:62544294..63317174 [GRCh37]
Chr8:8q12.3
uncertain significance
GRCh37/hg19 8q12.3(chr8:62350388-62426150)x1 copy number loss not provided [RCV001006106] Chr8:62350388..62426150 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.783G>A (p.Glu261=) single nucleotide variant not provided [RCV000915188] Chr8:61642895 [GRCh38]
Chr8:62555454 [GRCh37]
Chr8:8q12.3
likely benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q12.3(chr8:62449005-62474645)x1 copy number loss not provided [RCV000849886] Chr8:62449005..62474645 [GRCh37]
Chr8:8q12.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3
pathogenic
NM_004318.4(ASPH):c.1771G>T (p.Glu591Ter) single nucleotide variant not provided [RCV001581281] Chr8:61526106 [GRCh38]
Chr8:62438665 [GRCh37]
Chr8:8q12.3
likely pathogenic
NM_004318.4(ASPH):c.1062+68_1062+69dup duplication not provided [RCV001569856] Chr8:61583862..61583863 [GRCh38]
Chr8:62496421..62496422 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.148T>C (p.Ser50Pro) single nucleotide variant Inborn genetic diseases [RCV003292014] Chr8:61684144 [GRCh38]
Chr8:62596703 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.934+7298A>T single nucleotide variant not provided [RCV001540586] Chr8:61626385 [GRCh38]
Chr8:62538944 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.934+7288dup duplication not provided [RCV001588427] Chr8:61626383..61626384 [GRCh38]
Chr8:62538942..62538943 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.322+12706_322+12707insTCCCA insertion not provided [RCV001698857] Chr8:61668261..61668262 [GRCh38]
Chr8:62580820..62580821 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.1150-193C>T single nucleotide variant not provided [RCV001680969] Chr8:61567511 [GRCh38]
Chr8:62480070 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.791-14T>G single nucleotide variant not provided [RCV001649304] Chr8:61638377 [GRCh38]
Chr8:62550936 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.254-218C>A single nucleotide variant not provided [RCV001718278] Chr8:61681254 [GRCh38]
Chr8:62593813 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.415+230C>T single nucleotide variant not provided [RCV001674660] Chr8:61653338 [GRCh38]
Chr8:62565897 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1536+285G>A single nucleotide variant not provided [RCV001710641] Chr8:61555639 [GRCh38]
Chr8:62468198 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.572A>T (p.Asp191Val) single nucleotide variant Inborn genetic diseases [RCV003242374] Chr8:61646797 [GRCh38]
Chr8:62559356 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.1026A>G (p.Lys342=) single nucleotide variant not provided [RCV000885869] Chr8:61583980 [GRCh38]
Chr8:62496539 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.441A>C (p.Ala147=) single nucleotide variant not provided [RCV000908358] Chr8:61651099 [GRCh38]
Chr8:62563658 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.1476C>T (p.Val492=) single nucleotide variant not provided [RCV000981228] Chr8:61555984 [GRCh38]
Chr8:62468543 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.844C>T (p.Pro282Ser) single nucleotide variant Inborn genetic diseases [RCV003279142]|not provided [RCV000891278]|not specified [RCV001700499] Chr8:61637992 [GRCh38]
Chr8:62550551 [GRCh37]
Chr8:8q12.3
benign|likely benign|uncertain significance
NM_004318.4(ASPH):c.757+211A>G single nucleotide variant not provided [RCV001620897] Chr8:61643175 [GRCh38]
Chr8:62555734 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.2127-105C>T single nucleotide variant not provided [RCV001595618] Chr8:61503614 [GRCh38]
Chr8:62416173 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1063-121T>G single nucleotide variant not provided [RCV001717787] Chr8:61576979 [GRCh38]
Chr8:62489538 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1062+88G>A single nucleotide variant not provided [RCV001530534] Chr8:61583856 [GRCh38]
Chr8:62496415 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.323-12252C>T single nucleotide variant not provided [RCV001674468] Chr8:61665912 [GRCh38]
Chr8:62578471 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.322+12708T>A single nucleotide variant not provided [RCV001700531] Chr8:61668260 [GRCh38]
Chr8:62580819 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.1301-325dup duplication not provided [RCV001715957] Chr8:61563195..61563196 [GRCh38]
Chr8:62475754..62475755 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.-177G>C single nucleotide variant not provided [RCV001621227] Chr8:61714548 [GRCh38]
Chr8:62627107 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.103+245G>T single nucleotide variant not provided [RCV001674583] Chr8:61714024 [GRCh38]
Chr8:62626583 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.653-30G>A single nucleotide variant not provided [RCV001673597] Chr8:61644031 [GRCh38]
Chr8:62556590 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.619+176G>A single nucleotide variant not provided [RCV001718371] Chr8:61646574 [GRCh38]
Chr8:62559133 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.935-120A>G single nucleotide variant not provided [RCV001637935] Chr8:61619139 [GRCh38]
Chr8:62531698 [GRCh37]
Chr8:8q12.3
benign
NC_000008.11:g.61714951C>G single nucleotide variant not provided [RCV001683856] Chr8:61714951 [GRCh38]
Chr8:62627510 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1149+117A>T single nucleotide variant not provided [RCV001598870] Chr8:61576655 [GRCh38]
Chr8:62489214 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1626+108G>A single nucleotide variant not provided [RCV001725733] Chr8:61552923 [GRCh38]
Chr8:62465482 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.790+42del deletion not provided [RCV001611633] Chr8:61642846 [GRCh38]
Chr8:62555405 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1150-48A>T single nucleotide variant not provided [RCV001678723] Chr8:61567366 [GRCh38]
Chr8:62479925 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1437+143T>C single nucleotide variant not provided [RCV001684623] Chr8:61562601 [GRCh38]
Chr8:62475160 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1537-135C>A single nucleotide variant not provided [RCV001680723] Chr8:61553255 [GRCh38]
Chr8:62465814 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.254-69A>C single nucleotide variant not provided [RCV001724972] Chr8:61681105 [GRCh38]
Chr8:62593664 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.935-319C>T single nucleotide variant not provided [RCV001612333] Chr8:61619338 [GRCh38]
Chr8:62531897 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.254-1473G>A single nucleotide variant not provided [RCV001652437] Chr8:61682509 [GRCh38]
Chr8:62595068 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1062+68dup duplication not provided [RCV001725732] Chr8:61583862..61583863 [GRCh38]
Chr8:62496421..62496422 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1627-127C>T single nucleotide variant not provided [RCV001725734] Chr8:61548335 [GRCh38]
Chr8:62460894 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.103+219C>G single nucleotide variant not provided [RCV001682493] Chr8:61714050 [GRCh38]
Chr8:62626609 [GRCh37]
Chr8:8q12.3
benign
GRCh37/hg19 8q12.1-12.3(chr8:60026663-63779735) copy number gain duplication 8q12 [RCV001255692] Chr8:60026663..63779735 [GRCh37]
Chr8:8q12.1-12.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_004318.4(ASPH):c.-32G>A single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554180]|not provided [RCV001638165] Chr8:61714403 [GRCh38]
Chr8:62626962 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.2127-6C>T single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554122]|not provided [RCV001595109] Chr8:61503515 [GRCh38]
Chr8:62416074 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1146G>A (p.Ala382=) single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554177]|not provided [RCV001615321] Chr8:61576775 [GRCh38]
Chr8:62489334 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.-74T>C single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554181]|not provided [RCV001676060] Chr8:61714445 [GRCh38]
Chr8:62627004 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1437+206A>T single nucleotide variant not provided [RCV001642182] Chr8:61562538 [GRCh38]
Chr8:62475097 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.323-11633T>G single nucleotide variant Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs [RCV001334228] Chr8:61665293 [GRCh38]
Chr8:62577852 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004318.4(ASPH):c.935-92A>G single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554178]|not provided [RCV001536169] Chr8:61619111 [GRCh38]
Chr8:62531670 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.2127-2del deletion Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001542581] Chr8:61503511 [GRCh38]
Chr8:62416070 [GRCh37]
Chr8:8q12.3
pathogenic|likely pathogenic
NM_004318.4(ASPH):c.2181_2183dup (p.Trp728Ter) duplication not provided [RCV001543545] Chr8:61503452..61503453 [GRCh38]
Chr8:62416011..62416012 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004318.4(ASPH):c.1437+27G>A single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554125]|not provided [RCV001615316] Chr8:61562717 [GRCh38]
Chr8:62475276 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1150-57G>A single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554176]|not provided [RCV001597313] Chr8:61567375 [GRCh38]
Chr8:62479934 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1627-119T>C single nucleotide variant not provided [RCV001649036] Chr8:61548327 [GRCh38]
Chr8:62460886 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1537-116A>G single nucleotide variant not provided [RCV001619608] Chr8:61553236 [GRCh38]
Chr8:62465795 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.323-11612T>C single nucleotide variant not provided [RCV001726634]|not specified [RCV001699962] Chr8:61665272 [GRCh38]
Chr8:62577831 [GRCh37]
Chr8:8q12.3
benign|likely benign
NM_004318.4(ASPH):c.710-211C>G single nucleotide variant not provided [RCV001616022] Chr8:61643644 [GRCh38]
Chr8:62556203 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.976+226A>T single nucleotide variant not provided [RCV001616105] Chr8:61618752 [GRCh38]
Chr8:62531311 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.322+12710_322+12711insGAC insertion not provided [RCV001700634] Chr8:61668257..61668258 [GRCh38]
Chr8:62580816..62580817 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.34_51dup (p.Asn12_Gly17dup) duplication not provided [RCV001727450] Chr8:61714320..61714321 [GRCh38]
Chr8:62626879..62626880 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1799A>T (p.Glu600Val) single nucleotide variant not provided [RCV001727449] Chr8:61526078 [GRCh38]
Chr8:62438637 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.248T>C (p.Val83Ala) single nucleotide variant Inborn genetic diseases [RCV003093930]|Malignant hyperthermia of anesthesia [RCV002238741] Chr8:61684044 [GRCh38]
Chr8:62596603 [GRCh37]
Chr8:8q12.3
pathogenic|uncertain significance
NM_004318.4(ASPH):c.322+12720A>C single nucleotide variant Exercise-induced malignant hyperthermia [RCV002238742] Chr8:61668248 [GRCh38]
Chr8:62580807 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004318.4(ASPH):c.823G>T (p.Glu275Ter) single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001780649] Chr8:61638331 [GRCh38]
Chr8:62550890 [GRCh37]
Chr8:8q12.3
likely pathogenic
NM_004318.4(ASPH):c.323-11779G>C single nucleotide variant Malignant hyperthermia of anesthesia [RCV002240149] Chr8:61665439 [GRCh38]
Chr8:62577998 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004318.4(ASPH):c.323-11619A>G single nucleotide variant Exercise-induced malignant hyperthermia [RCV002240150]|not provided [RCV003434457] Chr8:61665279 [GRCh38]
Chr8:62577838 [GRCh37]
Chr8:8q12.3
pathogenic|likely benign
NM_004318.4(ASPH):c.197T>C (p.Val66Ala) single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001809129] Chr8:61684095 [GRCh38]
Chr8:62596654 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.416-2A>G single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001809130] Chr8:61651126 [GRCh38]
Chr8:62563685 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1916dup (p.Asn639fs) duplication not provided [RCV001929270] Chr8:61518107..61518108 [GRCh38]
Chr8:62430666..62430667 [GRCh37]
Chr8:8q12.3
pathogenic
GRCh37/hg19 8q12.3(chr8:62459659-62474645) copy number loss not specified [RCV002053766] Chr8:62459659..62474645 [GRCh37]
Chr8:8q12.3
uncertain significance
NC_000008.10:g.(?_61121344)_(62626930_?)dup duplication CHARGE association [RCV001982539] Chr8:61121344..62626930 [GRCh37]
Chr8:8q12.1-12.3
uncertain significance
NM_004318.4(ASPH):c.1384G>A (p.Val462Met) single nucleotide variant not provided [RCV002014500] Chr8:61562797 [GRCh38]
Chr8:62475356 [GRCh37]
Chr8:8q12.3
uncertain significance
NC_000008.10:g.(?_61121344)_(62626930_?)del deletion CHARGE association [RCV001951214] Chr8:61121344..62626930 [GRCh37]
Chr8:8q12.1-12.3
pathogenic
NM_004318.4(ASPH):c.647A>G (p.Glu216Gly) single nucleotide variant not provided [RCV002210459] Chr8:61644605 [GRCh38]
Chr8:62557164 [GRCh37]
Chr8:8q12.3
benign
NC_000008.10:g.(?_62460610)_(62465699_?)del deletion not provided [RCV003113429] Chr8:62460610..62465699 [GRCh37]
Chr8:8q12.3
likely pathogenic
NM_004318.4(ASPH):c.1626G>A (p.Glu542=) single nucleotide variant Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV002254245] Chr8:61553031 [GRCh38]
Chr8:62465590 [GRCh37]
Chr8:8q12.3
likely pathogenic
NM_004318.4(ASPH):c.1062+81del deletion not provided [RCV002281514] Chr8:61583863 [GRCh38]
Chr8:62496422 [GRCh37]
Chr8:8q12.3
likely benign
GRCh37/hg19 8q12.3(chr8:62220903-62536203)x3 copy number gain not provided [RCV002474729] Chr8:62220903..62536203 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.2258G>T (p.Arg753Leu) single nucleotide variant Inborn genetic diseases [RCV003287937] Chr8:61503378 [GRCh38]
Chr8:62415937 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.652+6A>T single nucleotide variant not provided [RCV002820103] Chr8:61644594 [GRCh38]
Chr8:62557153 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1298T>G (p.Leu433Arg) single nucleotide variant not provided [RCV003076291] Chr8:61567170 [GRCh38]
Chr8:62479729 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.2025C>T (p.His675=) single nucleotide variant not provided [RCV002903478] Chr8:61517629 [GRCh38]
Chr8:62430188 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1438-14T>G single nucleotide variant not provided [RCV002727315] Chr8:61556036 [GRCh38]
Chr8:62468595 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.924A>T (p.Glu308Asp) single nucleotide variant Inborn genetic diseases [RCV003000412] Chr8:61633693 [GRCh38]
Chr8:62546252 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.819G>T (p.Gly273=) single nucleotide variant not provided [RCV002912755] Chr8:61638335 [GRCh38]
Chr8:62550894 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1061G>T (p.Arg354Met) single nucleotide variant not provided [RCV002912980] Chr8:61583945 [GRCh38]
Chr8:62496504 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.514G>C (p.Glu172Gln) single nucleotide variant Inborn genetic diseases [RCV002888347] Chr8:61646855 [GRCh38]
Chr8:62559414 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.2258G>A (p.Arg753His) single nucleotide variant Inborn genetic diseases [RCV002980049] Chr8:61503378 [GRCh38]
Chr8:62415937 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1793G>A (p.Arg598Gln) single nucleotide variant Inborn genetic diseases [RCV002704498] Chr8:61526084 [GRCh38]
Chr8:62438643 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1301-19dup duplication not provided [RCV002639137] Chr8:61562898..61562899 [GRCh38]
Chr8:62475457..62475458 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.1721C>T (p.Pro574Leu) single nucleotide variant Inborn genetic diseases [RCV002761858] Chr8:61548114 [GRCh38]
Chr8:62460673 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1011T>G (p.Phe337Leu) single nucleotide variant Inborn genetic diseases [RCV002763651] Chr8:61583995 [GRCh38]
Chr8:62496554 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.620-5dup duplication not provided [RCV002894931] Chr8:61644636..61644637 [GRCh38]
Chr8:62557195..62557196 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.481G>A (p.Ala161Thr) single nucleotide variant not provided [RCV002928404] Chr8:61651059 [GRCh38]
Chr8:62563618 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.140G>A (p.Gly47Asp) single nucleotide variant not provided [RCV003006383] Chr8:61684152 [GRCh38]
Chr8:62596711 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.790+15T>G single nucleotide variant not provided [RCV002574079] Chr8:61642873 [GRCh38]
Chr8:62555432 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.932C>T (p.Pro311Leu) single nucleotide variant Inborn genetic diseases [RCV002826381] Chr8:61633685 [GRCh38]
Chr8:62546244 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.2127G>T (p.Lys709Asn) single nucleotide variant not provided [RCV002829655] Chr8:61503509 [GRCh38]
Chr8:62416068 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1887G>T (p.Thr629=) single nucleotide variant not provided [RCV002745231] Chr8:61525990 [GRCh38]
Chr8:62438549 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.2179G>A (p.Val727Ile) single nucleotide variant not provided [RCV003082526] Chr8:61503457 [GRCh38]
Chr8:62416016 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1627-20del deletion not provided [RCV002790231] Chr8:61548228 [GRCh38]
Chr8:62460787 [GRCh37]
Chr8:8q12.3
benign
NM_004318.4(ASPH):c.230T>C (p.Leu77Pro) single nucleotide variant not provided [RCV002900619] Chr8:61684062 [GRCh38]
Chr8:62596621 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.640G>A (p.Val214Met) single nucleotide variant not provided [RCV002598298] Chr8:61644612 [GRCh38]
Chr8:62557171 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1892G>A (p.Trp631Ter) single nucleotide variant not provided [RCV002601343] Chr8:61525985 [GRCh38]
Chr8:62438544 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004318.4(ASPH):c.749A>G (p.His250Arg) single nucleotide variant Inborn genetic diseases [RCV002855968] Chr8:61643394 [GRCh38]
Chr8:62555953 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1612G>A (p.Val538Ile) single nucleotide variant Inborn genetic diseases [RCV002702849] Chr8:61553045 [GRCh38]
Chr8:62465604 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.2005A>G (p.Ile669Val) single nucleotide variant Inborn genetic diseases [RCV002809895] Chr8:61517649 [GRCh38]
Chr8:62430208 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.573T>A (p.Asp191Glu) single nucleotide variant Inborn genetic diseases [RCV002814005] Chr8:61646796 [GRCh38]
Chr8:62559355 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1517A>T (p.Glu506Val) single nucleotide variant not provided [RCV002633857] Chr8:61555943 [GRCh38]
Chr8:62468502 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1590C>T (p.His530=) single nucleotide variant not provided [RCV002943992] Chr8:61553067 [GRCh38]
Chr8:62465626 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.2105T>C (p.Ile702Thr) single nucleotide variant Inborn genetic diseases [RCV002656601] Chr8:61517549 [GRCh38]
Chr8:62430108 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1514C>A (p.Ala505Asp) single nucleotide variant Inborn genetic diseases [RCV002678904] Chr8:61555946 [GRCh38]
Chr8:62468505 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.567G>A (p.Ala189=) single nucleotide variant not provided [RCV002588997] Chr8:61646802 [GRCh38]
Chr8:62559361 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.935A>G (p.Glu312Gly) single nucleotide variant Inborn genetic diseases [RCV003277931] Chr8:61619019 [GRCh38]
Chr8:62531578 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.566C>T (p.Ala189Val) single nucleotide variant Inborn genetic diseases [RCV003188534] Chr8:61646803 [GRCh38]
Chr8:62559362 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.896G>A (p.Ser299Asn) single nucleotide variant Inborn genetic diseases [RCV003196684] Chr8:61633721 [GRCh38]
Chr8:62546280 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.200G>C (p.Trp67Ser) single nucleotide variant Inborn genetic diseases [RCV003198149] Chr8:61684092 [GRCh38]
Chr8:62596651 [GRCh37]
Chr8:8q12.3
uncertain significance
GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1 copy number loss CHARGE association [RCV003329548] Chr8:61121294..63502403 [GRCh37]
Chr8:8q12.1-12.3
pathogenic
NM_004318.4(ASPH):c.1277G>A (p.Arg426His) single nucleotide variant Inborn genetic diseases [RCV003359285] Chr8:61567191 [GRCh38]
Chr8:62479750 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.322+12725A>G single nucleotide variant not provided [RCV003332754] Chr8:61668243 [GRCh38]
Chr8:62580802 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.2084T>A (p.Ile695Asn) single nucleotide variant Inborn genetic diseases [RCV003385218] Chr8:61517570 [GRCh38]
Chr8:62430129 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1309A>G (p.Arg437Gly) single nucleotide variant Inborn genetic diseases [RCV003362494] Chr8:61562872 [GRCh38]
Chr8:62475431 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.725T>A (p.Val242Glu) single nucleotide variant Inborn genetic diseases [RCV003383601] Chr8:61643418 [GRCh38]
Chr8:62555977 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1485C>T (p.Gly495=) single nucleotide variant not provided [RCV003570151] Chr8:61555975 [GRCh38]
Chr8:62468534 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.709+4T>A single nucleotide variant not provided [RCV003423933] Chr8:61643941 [GRCh38]
Chr8:62556500 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004318.4(ASPH):c.1765-18C>T single nucleotide variant not provided [RCV003713767] Chr8:61526130 [GRCh38]
Chr8:62438689 [GRCh37]
Chr8:8q12.3
likely benign
NM_004318.4(ASPH):c.2127-11_2127-8dup duplication not provided [RCV003544100] Chr8:61503516..61503517 [GRCh38]
Chr8:62416075..62416076 [GRCh37]
Chr8:8q12.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6998
Count of miRNA genes:1290
Interacting mature miRNAs:1680
Transcripts:ENST00000356457, ENST00000379449, ENST00000379454, ENST00000389204, ENST00000445642, ENST00000517661, ENST00000517847, ENST00000517856, ENST00000517903, ENST00000517928, ENST00000518068, ENST00000518306, ENST00000518441, ENST00000519234, ENST00000519264, ENST00000519678, ENST00000520198, ENST00000521499, ENST00000521909, ENST00000522036, ENST00000522325, ENST00000522343, ENST00000522349, ENST00000522603, ENST00000522835, ENST00000522919, ENST00000523897, ENST00000523927, ENST00000524173, ENST00000541428
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH48484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,519,086 - 62,519,220UniSTSGRCh37
Build 36862,681,640 - 62,681,774RGDNCBI36
Celera858,509,283 - 58,509,417RGD
Cytogenetic Map8q12.1UniSTS
HuRef858,008,023 - 58,008,157UniSTS
GeneMap99-GB4 RH Map8335.41UniSTS
NCBI RH Map8815.6UniSTS
RH91181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,414,082 - 62,414,161UniSTSGRCh37
Build 36862,576,636 - 62,576,715RGDNCBI36
Celera858,403,925 - 58,404,004RGD
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map8q12.1UniSTS
HuRef857,902,554 - 57,902,633UniSTS
GeneMap99-GB4 RH Map8329.33UniSTS
RH91152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,587,862 - 62,588,035UniSTSGRCh37
Build 36862,750,416 - 62,750,589RGDNCBI36
Celera858,578,061 - 58,578,234RGD
Cytogenetic Map8q12.1UniSTS
HuRef858,076,792 - 58,076,965UniSTS
GeneMap99-GB4 RH Map8335.41UniSTS
D8S1359E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,575,491 - 62,575,586UniSTSGRCh37
Build 36862,738,045 - 62,738,140RGDNCBI36
Celera858,565,690 - 58,565,785RGD
Cytogenetic Map8q12.1UniSTS
HuRef858,064,421 - 58,064,516UniSTS
D8S1374E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,577,706 - 62,577,799UniSTSGRCh37
Build 36862,740,260 - 62,740,353RGDNCBI36
Celera858,567,905 - 58,567,998RGD
Cytogenetic Map8q12.1UniSTS
HuRef858,066,636 - 58,066,729UniSTS
D8S1685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,587,863 - 62,587,984UniSTSGRCh37
Build 36862,750,417 - 62,750,538RGDNCBI36
Celera858,578,062 - 58,578,183RGD
Cytogenetic Map8q12.1UniSTS
HuRef858,076,793 - 58,076,914UniSTS
D8S1596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,414,008 - 62,414,160UniSTSGRCh37
Build 36862,576,562 - 62,576,714RGDNCBI36
Celera858,403,851 - 58,404,003RGD
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map8q12.1UniSTS
HuRef857,902,480 - 57,902,632UniSTS
Whitehead-YAC Contig Map8 UniSTS
SHGC-108120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,505,020 - 62,505,330UniSTSGRCh37
Build 36862,667,574 - 62,667,884RGDNCBI36
Celera858,495,217 - 58,495,527RGD
Cytogenetic Map8q12.1UniSTS
HuRef857,993,956 - 57,994,266UniSTS
SHGC-142338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,565,842 - 62,566,125UniSTSGRCh37
Build 36862,728,396 - 62,728,679RGDNCBI36
Celera858,556,041 - 58,556,324RGD
Cytogenetic Map8q12.1UniSTS
HuRef858,054,772 - 58,055,055UniSTS
A006X24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,413,824 - 62,413,956UniSTSGRCh37
Build 36862,576,378 - 62,576,510RGDNCBI36
Celera858,403,667 - 58,403,799RGD
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map8q12.1UniSTS
HuRef857,902,296 - 57,902,428UniSTS
GeneMap99-GB4 RH Map8329.33UniSTS
NCBI RH Map8795.9UniSTS
SHGC-32770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,413,398 - 62,413,522UniSTSGRCh37
Build 36862,575,952 - 62,576,076RGDNCBI36
Celera858,403,241 - 58,403,365RGD
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map8q12.1UniSTS
HuRef857,901,870 - 57,901,994UniSTS
GeneMap99-GB4 RH Map8329.33UniSTS
Whitehead-RH Map8417.4UniSTS
NCBI RH Map8796.1UniSTS
GeneMap99-G3 RH Map82585.0UniSTS
WI-11767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,537,103 - 62,537,227UniSTSGRCh37
Build 36862,699,657 - 62,699,781RGDNCBI36
Celera858,527,300 - 58,527,424RGD
Cytogenetic Map8q12.1UniSTS
HuRef858,026,033 - 58,026,157UniSTS
GeneMap99-GB4 RH Map8337.2UniSTS
Whitehead-RH Map8423.6UniSTS
NCBI RH Map8801.6UniSTS
SHGC-24147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,587,865 - 62,587,985UniSTSGRCh37
Build 36862,750,419 - 62,750,539RGDNCBI36
Celera858,578,064 - 58,578,184RGD
Cytogenetic Map8q12.1UniSTS
HuRef858,076,795 - 58,076,915UniSTS
Stanford-G3 RH Map82505.0UniSTS
GeneMap99-G3 RH Map82595.0UniSTS
D8S1514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,587,865 - 62,588,043UniSTSGRCh37
Build 36862,750,419 - 62,750,597RGDNCBI36
Celera858,578,064 - 58,578,242RGD
Cytogenetic Map8q12.1UniSTS
HuRef858,076,795 - 58,076,973UniSTS
Whitehead-YAC Contig Map8 UniSTS
WI-15471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,413,801 - 62,413,927UniSTSGRCh37
Build 36862,576,355 - 62,576,481RGDNCBI36
Celera858,403,644 - 58,403,770RGD
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map8q12.1UniSTS
HuRef857,902,273 - 57,902,399UniSTS
GeneMap99-GB4 RH Map8329.33UniSTS
Whitehead-RH Map8417.4UniSTS
NCBI RH Map8796.1UniSTS
RH66163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,413,232 - 62,413,336UniSTSGRCh37
Build 36862,575,786 - 62,575,890RGDNCBI36
Celera858,403,075 - 58,403,179RGD
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map8q12.1UniSTS
HuRef857,901,704 - 57,901,808UniSTS
GeneMap99-GB4 RH Map8397.99UniSTS
RH12812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,568,778 - 62,568,958UniSTSGRCh37
Build 36862,731,332 - 62,731,512RGDNCBI36
Celera858,558,977 - 58,559,157RGD
Cytogenetic Map8q12.1UniSTS
HuRef858,057,708 - 58,057,888UniSTS
GeneMap99-GB4 RH Map8335.1UniSTS
NCBI RH Map8798.0UniSTS
NIB322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,413,979 - 62,414,148UniSTSGRCh37
Build 36862,576,533 - 62,576,702RGDNCBI36
Celera858,403,822 - 58,403,991RGD
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map8q12.1UniSTS
HuRef857,902,451 - 57,902,620UniSTS
GeneMap99-GB4 RH Map8330.91UniSTS
Whitehead-RH Map8420.8UniSTS
NCBI RH Map8796.8UniSTS
RH66780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37862,415,918 - 62,416,038UniSTSGRCh37
Build 36862,578,472 - 62,578,592RGDNCBI36
Celera858,405,761 - 58,405,881RGD
Cytogenetic Map8q12.1UniSTS
HuRef857,904,390 - 57,904,510UniSTS
GeneMap99-GB4 RH Map8329.33UniSTS
NCBI RH Map8795.9UniSTS


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 2002 1865 1360 360 468 202 3636 1506 2302 296 916 1571 171 1201 2358 3
Low 431 1114 366 264 1390 262 720 686 1431 121 539 41 4 1 3 430 2 2
Below cutoff 3 12 78 1 5 1 2 5 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC067881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF184241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF224468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF224469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF289489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF306765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF339775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI793083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM785890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU623111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU741737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX102882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA420254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB115846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB122028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR996516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA136318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN993915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU718494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ461473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC258729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC303368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX404984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX404985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT036466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N83868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S83325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U03109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000356457   ⟹   ENSP00000348841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,623,710 - 61,714,596 (-)Ensembl
RefSeq Acc Id: ENST00000379449   ⟹   ENSP00000368762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,675,259 - 61,714,592 (-)Ensembl
RefSeq Acc Id: ENST00000379454   ⟹   ENSP00000368767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,500,556 - 61,714,592 (-)Ensembl
RefSeq Acc Id: ENST00000389204   ⟹   ENSP00000373856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,662,818 - 61,689,811 (-)Ensembl
RefSeq Acc Id: ENST00000445642   ⟹   ENSP00000394013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,623,710 - 61,714,640 (-)Ensembl
RefSeq Acc Id: ENST00000517661   ⟹   ENSP00000428060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,675,878 - 61,689,775 (-)Ensembl
RefSeq Acc Id: ENST00000517847   ⟹   ENSP00000429954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,623,713 - 61,689,811 (-)Ensembl
RefSeq Acc Id: ENST00000517856   ⟹   ENSP00000429743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,656,128 - 61,714,587 (-)Ensembl
RefSeq Acc Id: ENST00000517903   ⟹   ENSP00000430245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,624,603 - 61,689,779 (-)Ensembl
RefSeq Acc Id: ENST00000517928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,661,814 - 61,684,700 (-)Ensembl
RefSeq Acc Id: ENST00000518068   ⟹   ENSP00000429286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,624,539 - 61,714,568 (-)Ensembl
RefSeq Acc Id: ENST00000518306   ⟹   ENSP00000427877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,637,969 - 61,689,849 (-)Ensembl
RefSeq Acc Id: ENST00000518441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,625,645 - 61,638,046 (-)Ensembl
RefSeq Acc Id: ENST00000519234   ⟹   ENSP00000427823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,624,537 - 61,714,525 (-)Ensembl
RefSeq Acc Id: ENST00000519264   ⟹   ENSP00000479830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,633,125 - 61,637,986 (-)Ensembl
RefSeq Acc Id: ENST00000519678   ⟹   ENSP00000483443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,626,141 - 61,646,872 (-)Ensembl
RefSeq Acc Id: ENST00000520198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,644,600 - 61,651,431 (-)Ensembl
RefSeq Acc Id: ENST00000521499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,576,601 - 61,637,999 (-)Ensembl
RefSeq Acc Id: ENST00000521909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,517,013 - 61,526,086 (-)Ensembl
RefSeq Acc Id: ENST00000522036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,683,553 - 61,689,699 (-)Ensembl
RefSeq Acc Id: ENST00000522325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,680,524 - 61,684,190 (-)Ensembl
RefSeq Acc Id: ENST00000522343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,687,415 - 61,689,715 (-)Ensembl
RefSeq Acc Id: ENST00000522349   ⟹   ENSP00000429718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,576,772 - 61,689,811 (-)Ensembl
RefSeq Acc Id: ENST00000522603   ⟹   ENSP00000436188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,665,140 - 61,689,786 (-)Ensembl
RefSeq Acc Id: ENST00000522835   ⟹   ENSP00000429160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,625,910 - 61,689,812 (-)Ensembl
RefSeq Acc Id: ENST00000522919   ⟹   ENSP00000430516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,606,461 - 61,646,807 (-)Ensembl
RefSeq Acc Id: ENST00000523897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,582,999 - 61,643,417 (-)Ensembl
RefSeq Acc Id: ENST00000523927   ⟹   ENSP00000478706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,583,944 - 61,680,999 (-)Ensembl
RefSeq Acc Id: ENST00000524173   ⟹   ENSP00000479945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,567,257 - 61,651,086 (-)Ensembl
RefSeq Acc Id: ENST00000541428   ⟹   ENSP00000437864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl861,503,116 - 61,689,805 (-)Ensembl
RefSeq Acc Id: NM_001164750   ⟹   NP_001158222
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,689,811 (-)NCBI
GRCh37862,413,115 - 62,627,199 (-)ENTREZGENE
HuRef857,901,587 - 58,116,117 (-)ENTREZGENE
CHM1_1862,465,102 - 62,654,346 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,113,548 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001164751   ⟹   NP_001158223
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,623,713 - 61,689,811 (-)NCBI
GRCh37862,413,115 - 62,627,199 (-)ENTREZGENE
HuRef857,901,587 - 58,116,117 (-)ENTREZGENE
CHM1_1862,588,208 - 62,654,346 (-)NCBI
T2T-CHM13v2.0862,047,450 - 62,113,548 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001164752   ⟹   NP_001158224
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,623,713 - 61,689,811 (-)NCBI
GRCh37862,413,115 - 62,627,199 (-)ENTREZGENE
HuRef857,901,587 - 58,116,117 (-)ENTREZGENE
CHM1_1862,588,208 - 62,654,346 (-)NCBI
T2T-CHM13v2.0862,047,450 - 62,113,548 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001164753   ⟹   NP_001158225
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,623,713 - 61,689,811 (-)NCBI
GRCh37862,413,115 - 62,627,199 (-)ENTREZGENE
HuRef857,901,587 - 58,116,117 (-)ENTREZGENE
CHM1_1862,588,208 - 62,654,346 (-)NCBI
T2T-CHM13v2.0862,047,450 - 62,113,548 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001164754   ⟹   NP_001158226
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,623,713 - 61,714,592 (-)NCBI
GRCh37862,413,115 - 62,627,199 (-)ENTREZGENE
HuRef857,901,587 - 58,116,117 (-)ENTREZGENE
CHM1_1862,588,208 - 62,679,146 (-)NCBI
T2T-CHM13v2.0862,047,450 - 62,138,323 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001164755   ⟹   NP_001158227
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,623,713 - 61,714,592 (-)NCBI
GRCh37862,413,115 - 62,627,199 (-)ENTREZGENE
HuRef857,901,587 - 58,116,117 (-)ENTREZGENE
CHM1_1862,588,208 - 62,679,146 (-)NCBI
T2T-CHM13v2.0862,047,450 - 62,138,323 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001164756   ⟹   NP_001158228
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,675,259 - 61,714,592 (-)NCBI
GRCh37862,413,115 - 62,627,199 (-)ENTREZGENE
HuRef857,901,587 - 58,116,117 (-)ENTREZGENE
CHM1_1862,639,756 - 62,679,146 (-)NCBI
T2T-CHM13v2.0862,098,994 - 62,138,323 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001413844   ⟹   NP_001400773
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413845   ⟹   NP_001400774
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413846   ⟹   NP_001400775
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413847   ⟹   NP_001400776
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413848   ⟹   NP_001400777
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413849   ⟹   NP_001400778
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413850   ⟹   NP_001400779
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413851   ⟹   NP_001400780
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413852   ⟹   NP_001400781
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413853   ⟹   NP_001400782
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413854   ⟹   NP_001400783
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413855   ⟹   NP_001400784
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413856   ⟹   NP_001400785
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,689,811 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,113,548 (-)NCBI
RefSeq Acc Id: NM_001413857   ⟹   NP_001400786
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413858   ⟹   NP_001400787
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413859   ⟹   NP_001400788
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413860   ⟹   NP_001400789
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413861   ⟹   NP_001400790
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413862   ⟹   NP_001400791
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413863   ⟹   NP_001400792
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413864   ⟹   NP_001400793
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413865   ⟹   NP_001400794
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413866   ⟹   NP_001400795
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413867   ⟹   NP_001400796
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413868   ⟹   NP_001400797
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413869   ⟹   NP_001400798
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413870   ⟹   NP_001400799
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413871   ⟹   NP_001400800
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413872   ⟹   NP_001400801
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413873   ⟹   NP_001400802
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413874   ⟹   NP_001400803
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413875   ⟹   NP_001400804
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413876   ⟹   NP_001400805
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413877   ⟹   NP_001400806
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413878   ⟹   NP_001400807
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413879   ⟹   NP_001400808
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413880   ⟹   NP_001400809
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413881   ⟹   NP_001400810
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413882   ⟹   NP_001400811
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413883   ⟹   NP_001400812
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413884   ⟹   NP_001400813
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413885   ⟹   NP_001400814
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413886   ⟹   NP_001400815
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413887   ⟹   NP_001400816
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413888   ⟹   NP_001400817
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413889   ⟹   NP_001400818
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413890   ⟹   NP_001400819
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413891   ⟹   NP_001400820
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413893   ⟹   NP_001400822
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413894   ⟹   NP_001400823
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413895   ⟹   NP_001400824
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413896   ⟹   NP_001400825
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413897   ⟹   NP_001400826
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413898   ⟹   NP_001400827
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413899   ⟹   NP_001400828
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413900   ⟹   NP_001400829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413901   ⟹   NP_001400830
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_001413902   ⟹   NP_001400831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,624,537 - 61,689,811 (-)NCBI
T2T-CHM13v2.0862,048,274 - 62,113,548 (-)NCBI
RefSeq Acc Id: NM_001413903   ⟹   NP_001400832
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,624,537 - 61,689,811 (-)NCBI
T2T-CHM13v2.0862,048,274 - 62,113,548 (-)NCBI
RefSeq Acc Id: NM_001413904   ⟹   NP_001400833
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,624,537 - 61,689,811 (-)NCBI
T2T-CHM13v2.0862,048,274 - 62,113,548 (-)NCBI
RefSeq Acc Id: NM_001413905   ⟹   NP_001400834
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,624,537 - 61,689,811 (-)NCBI
T2T-CHM13v2.0862,048,274 - 62,113,548 (-)NCBI
RefSeq Acc Id: NM_001413906   ⟹   NP_001400835
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,624,537 - 61,689,811 (-)NCBI
T2T-CHM13v2.0862,048,274 - 62,113,548 (-)NCBI
RefSeq Acc Id: NM_001413907   ⟹   NP_001400836
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,624,537 - 61,689,811 (-)NCBI
T2T-CHM13v2.0862,048,274 - 62,113,548 (-)NCBI
RefSeq Acc Id: NM_001413908   ⟹   NP_001400837
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,624,537 - 61,689,811 (-)NCBI
T2T-CHM13v2.0862,048,274 - 62,113,548 (-)NCBI
RefSeq Acc Id: NM_001413909   ⟹   NP_001400838
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: NM_004318   ⟹   NP_004309
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
GRCh37862,413,115 - 62,627,199 (-)ENTREZGENE
Build 36862,578,374 - 62,789,560 (-)NCBI Archive
HuRef857,901,587 - 58,116,117 (-)ENTREZGENE
CHM1_1862,465,102 - 62,679,146 (-)NCBI
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020164   ⟹   NP_064549
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,662,818 - 61,689,811 (-)NCBI
GRCh37862,413,115 - 62,627,199 (-)ENTREZGENE
Build 36862,739,838 - 62,764,840 (-)NCBI Archive
HuRef857,901,587 - 58,116,117 (-)ENTREZGENE
CHM1_1862,627,315 - 62,654,346 (-)NCBI
T2T-CHM13v2.0862,086,556 - 62,113,548 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032466   ⟹   NP_115855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,623,713 - 61,714,592 (-)NCBI
GRCh37862,413,115 - 62,627,199 (-)ENTREZGENE
Build 36862,699,658 - 62,789,495 (-)NCBI Archive
HuRef857,901,587 - 58,116,117 (-)ENTREZGENE
CHM1_1862,588,208 - 62,679,146 (-)NCBI
T2T-CHM13v2.0862,047,450 - 62,138,323 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032467   ⟹   NP_115856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,662,818 - 61,689,811 (-)NCBI
GRCh37862,413,115 - 62,627,199 (-)ENTREZGENE
Build 36862,739,838 - 62,764,899 (-)NCBI Archive
HuRef857,901,587 - 58,116,117 (-)ENTREZGENE
CHM1_1862,627,315 - 62,654,346 (-)NCBI
T2T-CHM13v2.0862,086,556 - 62,113,548 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032468   ⟹   NP_115857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,623,713 - 61,689,811 (-)NCBI
GRCh37862,413,115 - 62,627,199 (-)ENTREZGENE
Build 36862,699,648 - 62,764,919 (-)NCBI Archive
HuRef857,901,587 - 58,116,117 (-)ENTREZGENE
CHM1_1862,588,208 - 62,654,346 (-)NCBI
T2T-CHM13v2.0862,047,450 - 62,113,548 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251244   ⟹   XP_005251301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,689,811 (-)NCBI
GRCh37862,413,115 - 62,627,199 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013419   ⟹   XP_016868908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013420   ⟹   XP_016868909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013426   ⟹   XP_016868915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,689,811 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013427   ⟹   XP_016868916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,689,811 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013430   ⟹   XP_016868919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,714,592 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013431   ⟹   XP_016868920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,689,811 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013435   ⟹   XP_016868924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,689,811 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013439   ⟹   XP_016868928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,689,811 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013440   ⟹   XP_016868929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,689,811 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013444   ⟹   XP_016868933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,689,811 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447157   ⟹   XP_024302925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,606,461 - 61,714,592 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447158   ⟹   XP_024302926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,606,461 - 61,689,811 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447159   ⟹   XP_024302927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,675,259 - 61,689,811 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421791   ⟹   XP_047277747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,500,556 - 61,689,811 (-)NCBI
RefSeq Acc Id: XM_047421792   ⟹   XP_047277748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,606,461 - 61,714,592 (-)NCBI
RefSeq Acc Id: XM_047421793   ⟹   XP_047277749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,606,461 - 61,714,592 (-)NCBI
RefSeq Acc Id: XM_054360481   ⟹   XP_054216456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: XM_054360482   ⟹   XP_054216457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: XM_054360483   ⟹   XP_054216458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0861,924,301 - 62,113,548 (-)NCBI
RefSeq Acc Id: XM_054360484   ⟹   XP_054216459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0861,924,301 - 62,113,548 (-)NCBI
RefSeq Acc Id: XM_054360485   ⟹   XP_054216460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0861,924,301 - 62,138,323 (-)NCBI
RefSeq Acc Id: XM_054360486   ⟹   XP_054216461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0861,924,301 - 62,113,548 (-)NCBI
RefSeq Acc Id: XM_054360487   ⟹   XP_054216462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0861,924,301 - 62,113,548 (-)NCBI
RefSeq Acc Id: XM_054360488   ⟹   XP_054216463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0861,924,301 - 62,113,548 (-)NCBI
RefSeq Acc Id: XM_054360489   ⟹   XP_054216464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0861,924,301 - 62,113,548 (-)NCBI
RefSeq Acc Id: XM_054360490   ⟹   XP_054216465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0861,924,301 - 62,113,548 (-)NCBI
RefSeq Acc Id: XM_054360491   ⟹   XP_054216466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0861,924,301 - 62,113,548 (-)NCBI
RefSeq Acc Id: XM_054360492   ⟹   XP_054216467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0861,924,301 - 62,113,548 (-)NCBI
RefSeq Acc Id: XM_054360493   ⟹   XP_054216468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0862,030,201 - 62,138,323 (-)NCBI
RefSeq Acc Id: XM_054360494   ⟹   XP_054216469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0862,030,201 - 62,138,323 (-)NCBI
RefSeq Acc Id: XM_054360495   ⟹   XP_054216470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0862,030,201 - 62,113,548 (-)NCBI
RefSeq Acc Id: XM_054360496   ⟹   XP_054216471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0862,030,201 - 62,138,323 (-)NCBI
RefSeq Acc Id: XM_054360497   ⟹   XP_054216472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0862,098,994 - 62,113,548 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001158222 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158223 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158224 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158225 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158226 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158227 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158228 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400773 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400774 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400775 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400776 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400777 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400778 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400779 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400780 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400781 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400782 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400783 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400784 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400785 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400786 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400787 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400788 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400789 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400790 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400791 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400792 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400793 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400794 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400795 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400796 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400797 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400798 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400799 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400800 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400801 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400802 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400803 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400804 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400805 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400806 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400807 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400808 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400809 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400810 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400811 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400812 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400813 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400814 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400815 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400816 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400817 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400818 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400819 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400820 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400822 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400823 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400824 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400825 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400826 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400827 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400828 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400829 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400830 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400831 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400832 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400833 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400834 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400835 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400836 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400837 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400838 (Get FASTA)   NCBI Sequence Viewer  
  NP_004309 (Get FASTA)   NCBI Sequence Viewer  
  NP_064549 (Get FASTA)   NCBI Sequence Viewer  
  NP_115855 (Get FASTA)   NCBI Sequence Viewer  
  NP_115856 (Get FASTA)   NCBI Sequence Viewer  
  NP_115857 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251301 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868908 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868909 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868915 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868916 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868919 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868920 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868924 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868928 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868929 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868933 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302925 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302926 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302927 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277747 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277748 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277749 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216456 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216457 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216458 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216459 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216460 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216461 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216462 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216463 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216464 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216465 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216466 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216467 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216468 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216469 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216470 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216471 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216472 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA82108 (Get FASTA)   NCBI Sequence Viewer  
  AAB50779 (Get FASTA)   NCBI Sequence Viewer  
  AAF82246 (Get FASTA)   NCBI Sequence Viewer  
  AAF82247 (Get FASTA)   NCBI Sequence Viewer  
  AAG16983 (Get FASTA)   NCBI Sequence Viewer  
  AAG40811 (Get FASTA)   NCBI Sequence Viewer  
  AAG42257 (Get FASTA)   NCBI Sequence Viewer  
  AAH15518 (Get FASTA)   NCBI Sequence Viewer  
  AAH25236 (Get FASTA)   NCBI Sequence Viewer  
  AAH66929 (Get FASTA)   NCBI Sequence Viewer  
  AAI42968 (Get FASTA)   NCBI Sequence Viewer  
  AAI44363 (Get FASTA)   NCBI Sequence Viewer  
  AAI44364 (Get FASTA)   NCBI Sequence Viewer  
  ACD93450 (Get FASTA)   NCBI Sequence Viewer  
  ACK37363 (Get FASTA)   NCBI Sequence Viewer  
  BAF84525 (Get FASTA)   NCBI Sequence Viewer  
  BAG58441 (Get FASTA)   NCBI Sequence Viewer  
  BAG60769 (Get FASTA)   NCBI Sequence Viewer  
  BAG65166 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43258 (Get FASTA)   NCBI Sequence Viewer  
  CDM55392 (Get FASTA)   NCBI Sequence Viewer  
  CDM55573 (Get FASTA)   NCBI Sequence Viewer  
  EAW86840 (Get FASTA)   NCBI Sequence Viewer  
  EAW86841 (Get FASTA)   NCBI Sequence Viewer  
  EAW86842 (Get FASTA)   NCBI Sequence Viewer  
  EAW86843 (Get FASTA)   NCBI Sequence Viewer  
  EAW86844 (Get FASTA)   NCBI Sequence Viewer  
  EAW86845 (Get FASTA)   NCBI Sequence Viewer  
  EAW86846 (Get FASTA)   NCBI Sequence Viewer  
  EAW86847 (Get FASTA)   NCBI Sequence Viewer  
  EAW86848 (Get FASTA)   NCBI Sequence Viewer  
  EAW86849 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000348841
  ENSP00000348841.5
  ENSP00000368762
  ENSP00000368762.5
  ENSP00000368767
  ENSP00000368767.4
  ENSP00000373856
  ENSP00000373856.4
  ENSP00000394013
  ENSP00000394013.4
  ENSP00000427823.1
  ENSP00000427877
  ENSP00000427877.1
  ENSP00000428060
  ENSP00000428060.1
  ENSP00000429160
  ENSP00000429160.1
  ENSP00000429286
  ENSP00000429286.1
  ENSP00000429718.1
  ENSP00000429743.1
  ENSP00000429954
  ENSP00000429954.2
  ENSP00000430245
  ENSP00000430245.1
  ENSP00000430516.1
  ENSP00000436188
  ENSP00000436188.1
  ENSP00000437864
  ENSP00000437864.1
  ENSP00000478706.1
  ENSP00000479830.1
  ENSP00000479945.1
  ENSP00000483443.1
GenBank Protein Q12797 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004309   ⟸   NM_004318
- Peptide Label: isoform 1
- UniProtKB: Q9NRI1 (UniProtKB/Swiss-Prot),   Q9NRI0 (UniProtKB/Swiss-Prot),   Q9H2C4 (UniProtKB/Swiss-Prot),   Q9H291 (UniProtKB/Swiss-Prot),   Q8TB28 (UniProtKB/Swiss-Prot),   Q6NXR7 (UniProtKB/Swiss-Prot),   F5H667 (UniProtKB/Swiss-Prot),   E5RGP5 (UniProtKB/Swiss-Prot),   B7ZM95 (UniProtKB/Swiss-Prot),   B4E2K4 (UniProtKB/Swiss-Prot),   B4DIC9 (UniProtKB/Swiss-Prot),   A6NHI2 (UniProtKB/Swiss-Prot),   A6NDF4 (UniProtKB/Swiss-Prot),   A0A0A0MSK8 (UniProtKB/Swiss-Prot),   Q9Y4J0 (UniProtKB/Swiss-Prot),   Q12797 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001158222   ⟸   NM_001164750
- Peptide Label: isoform 6
- UniProtKB: Q12797 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001158227   ⟸   NM_001164755
- Peptide Label: isoform 11
- UniProtKB: A8K721 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158226   ⟸   NM_001164754
- Peptide Label: isoform 10
- UniProtKB: Q6PJH4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_115855   ⟸   NM_032466
- Peptide Label: isoform 3
- UniProtKB: A8K721 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158225   ⟸   NM_001164753
- Peptide Label: isoform 9
- UniProtKB: Q12797 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001158224   ⟸   NM_001164752
- Peptide Label: isoform 8
- UniProtKB: B7ZM96 (UniProtKB/TrEMBL),   B4DQ07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158223   ⟸   NM_001164751
- Peptide Label: isoform 7
- UniProtKB: E5RG56 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_115857   ⟸   NM_032468
- Peptide Label: isoform 2
- UniProtKB: E5RG56 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_115856   ⟸   NM_032467
- Peptide Label: isoform 4
- UniProtKB: Q12797 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_064549   ⟸   NM_020164
- Peptide Label: isoform 5
- UniProtKB: Q12797 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001158228   ⟸   NM_001164756
- Peptide Label: isoform 12
- UniProtKB: Q12797 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251301   ⟸   XM_005251244
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016868919   ⟸   XM_017013430
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016868909   ⟸   XM_017013420
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016868908   ⟸   XM_017013419
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016868929   ⟸   XM_017013440
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016868924   ⟸   XM_017013435
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016868916   ⟸   XM_017013427
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016868915   ⟸   XM_017013426
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016868933   ⟸   XM_017013444
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016868928   ⟸   XM_017013439
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016868920   ⟸   XM_017013431
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024302925   ⟸   XM_024447157
- Peptide Label: isoform X13
- UniProtKB: B3GQE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302926   ⟸   XM_024447158
- Peptide Label: isoform X15
- UniProtKB: B3GQE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302927   ⟸   XM_024447159
- Peptide Label: isoform X17
- UniProtKB: G3XAN5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000437864   ⟸   ENST00000541428
RefSeq Acc Id: ENSP00000428060   ⟸   ENST00000517661
RefSeq Acc Id: ENSP00000430245   ⟸   ENST00000517903
RefSeq Acc Id: ENSP00000429954   ⟸   ENST00000517847
RefSeq Acc Id: ENSP00000429743   ⟸   ENST00000517856
RefSeq Acc Id: ENSP00000429286   ⟸   ENST00000518068
RefSeq Acc Id: ENSP00000427877   ⟸   ENST00000518306
RefSeq Acc Id: ENSP00000427823   ⟸   ENST00000519234
RefSeq Acc Id: ENSP00000479830   ⟸   ENST00000519264
RefSeq Acc Id: ENSP00000483443   ⟸   ENST00000519678
RefSeq Acc Id: ENSP00000373856   ⟸   ENST00000389204
RefSeq Acc Id: ENSP00000368767   ⟸   ENST00000379454
RefSeq Acc Id: ENSP00000368762   ⟸   ENST00000379449
RefSeq Acc Id: ENSP00000436188   ⟸   ENST00000522603
RefSeq Acc Id: ENSP00000429718   ⟸   ENST00000522349
RefSeq Acc Id: ENSP00000429160   ⟸   ENST00000522835
RefSeq Acc Id: ENSP00000430516   ⟸   ENST00000522919
RefSeq Acc Id: ENSP00000478706   ⟸   ENST00000523927
RefSeq Acc Id: ENSP00000394013   ⟸   ENST00000445642
RefSeq Acc Id: ENSP00000479945   ⟸   ENST00000524173
RefSeq Acc Id: ENSP00000348841   ⟸   ENST00000356457
RefSeq Acc Id: XP_047277747   ⟸   XM_047421791
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047277749   ⟸   XM_047421793
- Peptide Label: isoform X16
- UniProtKB: B3GQE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277748   ⟸   XM_047421792
- Peptide Label: isoform X14
- UniProtKB: Q6PJH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400830   ⟸   NM_001413901
- Peptide Label: isoform 58
RefSeq Acc Id: NP_001400838   ⟸   NM_001413909
- Peptide Label: isoform 57
RefSeq Acc Id: NP_001400824   ⟸   NM_001413895
- Peptide Label: isoform 51
RefSeq Acc Id: NP_001400823   ⟸   NM_001413894
- Peptide Label: isoform 50
RefSeq Acc Id: NP_001400813   ⟸   NM_001413884
- Peptide Label: isoform 42
RefSeq Acc Id: NP_001400819   ⟸   NM_001413890
- Peptide Label: isoform 47
RefSeq Acc Id: NP_001400812   ⟸   NM_001413883
- Peptide Label: isoform 41
RefSeq Acc Id: NP_001400791   ⟸   NM_001413862
- Peptide Label: isoform 26
RefSeq Acc Id: NP_001400829   ⟸   NM_001413900
- Peptide Label: isoform 56
RefSeq Acc Id: NP_001400827   ⟸   NM_001413898
- Peptide Label: isoform 54
RefSeq Acc Id: NP_001400815   ⟸   NM_001413886
- Peptide Label: isoform 44
RefSeq Acc Id: NP_001400811   ⟸   NM_001413882
- Peptide Label: isoform 40
RefSeq Acc Id: NP_001400817   ⟸   NM_001413888
- Peptide Label: isoform 45
RefSeq Acc Id: NP_001400816   ⟸   NM_001413887
- Peptide Label: isoform 44
RefSeq Acc Id: NP_001400809   ⟸   NM_001413880
- Peptide Label: isoform 38
RefSeq Acc Id: NP_001400814   ⟸   NM_001413885
- Peptide Label: isoform 43
RefSeq Acc Id: NP_001400806   ⟸   NM_001413877
- Peptide Label: isoform 35
RefSeq Acc Id: NP_001400808   ⟸   NM_001413879
- Peptide Label: isoform 37
RefSeq Acc Id: NP_001400802   ⟸   NM_001413873
- Peptide Label: isoform 32
RefSeq Acc Id: NP_001400807   ⟸   NM_001413878
- Peptide Label: isoform 36
RefSeq Acc Id: NP_001400805   ⟸   NM_001413876
- Peptide Label: isoform 35
RefSeq Acc Id: NP_001400826   ⟸   NM_001413897
- Peptide Label: isoform 53
RefSeq Acc Id: NP_001400800   ⟸   NM_001413871
- Peptide Label: isoform 31
RefSeq Acc Id: NP_001400788   ⟸   NM_001413859
- Peptide Label: isoform 23
RefSeq Acc Id: NP_001400818   ⟸   NM_001413889
- Peptide Label: isoform 46
RefSeq Acc Id: NP_001400804   ⟸   NM_001413875
- Peptide Label: isoform 34
RefSeq Acc Id: NP_001400796   ⟸   NM_001413867
- Peptide Label: isoform 28
RefSeq Acc Id: NP_001400799   ⟸   NM_001413870
- Peptide Label: isoform 30
RefSeq Acc Id: NP_001400790   ⟸   NM_001413861
- Peptide Label: isoform 25
RefSeq Acc Id: NP_001400798   ⟸   NM_001413869
- Peptide Label: isoform 29
RefSeq Acc Id: NP_001400797   ⟸   NM_001413868
- Peptide Label: isoform 28
RefSeq Acc Id: NP_001400825   ⟸   NM_001413896
- Peptide Label: isoform 52
RefSeq Acc Id: NP_001400789   ⟸   NM_001413860
- Peptide Label: isoform 24
RefSeq Acc Id: NP_001400776   ⟸   NM_001413847
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001400810   ⟸   NM_001413881
- Peptide Label: isoform 39
RefSeq Acc Id: NP_001400795   ⟸   NM_001413866
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001400783   ⟸   NM_001413854
- Peptide Label: isoform 21
RefSeq Acc Id: NP_001400787   ⟸   NM_001413858
- Peptide Label: isoform 23
RefSeq Acc Id: NP_001400822   ⟸   NM_001413893
- Peptide Label: isoform 49
RefSeq Acc Id: NP_001400779   ⟸   NM_001413850
- Peptide Label: isoform 18
RefSeq Acc Id: NP_001400793   ⟸   NM_001413864
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001400786   ⟸   NM_001413857
- Peptide Label: isoform 22
RefSeq Acc Id: NP_001400780   ⟸   NM_001413851
- Peptide Label: isoform 18
RefSeq Acc Id: NP_001400784   ⟸   NM_001413855
- Peptide Label: isoform 21
RefSeq Acc Id: NP_001400828   ⟸   NM_001413899
- Peptide Label: isoform 55
RefSeq Acc Id: NP_001400820   ⟸   NM_001413891
- Peptide Label: isoform 48
RefSeq Acc Id: NP_001400773   ⟸   NM_001413844
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001400803   ⟸   NM_001413874
- Peptide Label: isoform 33
RefSeq Acc Id: NP_001400794   ⟸   NM_001413865
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001400801   ⟸   NM_001413872
- Peptide Label: isoform 31
RefSeq Acc Id: NP_001400792   ⟸   NM_001413863
- Peptide Label: isoform 27
RefSeq Acc Id: NP_001400782   ⟸   NM_001413853
- Peptide Label: isoform 20
RefSeq Acc Id: NP_001400781   ⟸   NM_001413852
- Peptide Label: isoform 19
RefSeq Acc Id: NP_001400777   ⟸   NM_001413848
- Peptide Label: isoform 17
RefSeq Acc Id: NP_001400775   ⟸   NM_001413846
- Peptide Label: isoform 15
RefSeq Acc Id: NP_001400778   ⟸   NM_001413849
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001400774   ⟸   NM_001413845
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001400785   ⟸   NM_001413856
- Peptide Label: isoform 21
RefSeq Acc Id: NP_001400837   ⟸   NM_001413908
- Peptide Label: isoform 64
- UniProtKB: E5RG29 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400836   ⟸   NM_001413907
- Peptide Label: isoform 63
- UniProtKB: E5RG29 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400835   ⟸   NM_001413906
- Peptide Label: isoform 62
- UniProtKB: E5RG29 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400834   ⟸   NM_001413905
- Peptide Label: isoform 61
- UniProtKB: B4DQ07 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400833   ⟸   NM_001413904
- Peptide Label: isoform 60
- UniProtKB: A8K721 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400832   ⟸   NM_001413903
- Peptide Label: isoform 59
- UniProtKB: A8K721 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400831   ⟸   NM_001413902
- Peptide Label: isoform 2
- UniProtKB: E5RG56 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216460   ⟸   XM_054360485
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054216457   ⟸   XM_054360482
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216456   ⟸   XM_054360481
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216467   ⟸   XM_054360492
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054216466   ⟸   XM_054360491
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054216463   ⟸   XM_054360488
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054216461   ⟸   XM_054360486
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054216464   ⟸   XM_054360489
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054216465   ⟸   XM_054360490
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054216462   ⟸   XM_054360487
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054216459   ⟸   XM_054360484
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054216458   ⟸   XM_054360483
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216471   ⟸   XM_054360496
- Peptide Label: isoform X16
- UniProtKB: B3GQE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216469   ⟸   XM_054360494
- Peptide Label: isoform X14
- UniProtKB: Q6PJH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216468   ⟸   XM_054360493
- Peptide Label: isoform X13
- UniProtKB: B3GQE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216470   ⟸   XM_054360495
- Peptide Label: isoform X15
- UniProtKB: B3GQE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216472   ⟸   XM_054360497
- Peptide Label: isoform X17
- UniProtKB: G3XAN5 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q12797-F1-model_v2 AlphaFold Q12797 1-758 view protein structure

Promoters
RGD ID:7213383
Promoter ID:EPDNEW_H12437
Type:initiation region
Name:ASPH_3
Description:aspartate beta-hydroxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12438  EPDNEW_H12439  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,684,149 - 61,684,209EPDNEW
RGD ID:7213385
Promoter ID:EPDNEW_H12438
Type:initiation region
Name:ASPH_2
Description:aspartate beta-hydroxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12437  EPDNEW_H12439  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,689,811 - 61,689,871EPDNEW
RGD ID:7213387
Promoter ID:EPDNEW_H12439
Type:initiation region
Name:ASPH_1
Description:aspartate beta-hydroxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12437  EPDNEW_H12438  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38861,714,592 - 61,714,652EPDNEW
RGD ID:6806509
Promoter ID:HG_KWN:61373
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000389214,   NM_001164750,   NM_001164751,   NM_001164752,   NM_001164753,   NM_020164,   NM_032467,   NM_032468,   UC003XUP.1,   UC003XUQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36862,764,701 - 62,765,201 (-)MPROMDB
RGD ID:6806506
Promoter ID:HG_KWN:61374
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000379451,   ENST00000389213,   NM_001164754,   NM_001164755,   NM_004318,   NM_032466,   UC003XUO.1,   UC003XUR.1,   UC003XUS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36862,789,459 - 62,789,959 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:757 AgrOrtholog
COSMIC ASPH COSMIC
Ensembl Genes ENSG00000198363 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000356457 ENTREZGENE
  ENST00000356457.9 UniProtKB/Swiss-Prot
  ENST00000379449 ENTREZGENE
  ENST00000379449.11 UniProtKB/Swiss-Prot
  ENST00000379454 ENTREZGENE
  ENST00000379454.9 UniProtKB/Swiss-Prot
  ENST00000389204 ENTREZGENE
  ENST00000389204.9 UniProtKB/Swiss-Prot
  ENST00000445642 ENTREZGENE
  ENST00000445642.6 UniProtKB/Swiss-Prot
  ENST00000517661 ENTREZGENE
  ENST00000517661.5 UniProtKB/TrEMBL
  ENST00000517847 ENTREZGENE
  ENST00000517847.7 UniProtKB/Swiss-Prot
  ENST00000517856.5 UniProtKB/TrEMBL
  ENST00000517903 ENTREZGENE
  ENST00000517903.5 UniProtKB/Swiss-Prot
  ENST00000518068 ENTREZGENE
  ENST00000518068.5 UniProtKB/Swiss-Prot
  ENST00000518306 ENTREZGENE
  ENST00000518306.5 UniProtKB/TrEMBL
  ENST00000519234.5 UniProtKB/TrEMBL
  ENST00000519264.5 UniProtKB/TrEMBL
  ENST00000519678.5 UniProtKB/TrEMBL
  ENST00000522349.5 UniProtKB/TrEMBL
  ENST00000522603 ENTREZGENE
  ENST00000522603.5 UniProtKB/Swiss-Prot
  ENST00000522835 ENTREZGENE
  ENST00000522835.5 UniProtKB/Swiss-Prot
  ENST00000522919.5 UniProtKB/TrEMBL
  ENST00000523927.5 UniProtKB/TrEMBL
  ENST00000524173.5 UniProtKB/TrEMBL
  ENST00000541428 ENTREZGENE
  ENST00000541428.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198363 GTEx
HGNC ID HGNC:757 ENTREZGENE
Human Proteome Map ASPH Human Proteome Map
InterPro Asp-B-hydro/Triadin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp/Arg/Pro-Hydrxlase UniProtKB/Swiss-Prot
  ASPH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IPNS-like UniProtKB/Swiss-Prot
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot
KEGG Report hsa:444 UniProtKB/Swiss-Prot
NCBI Gene 444 ENTREZGENE
OMIM 600582 OMIM
PANTHER ASPARTYL/ASPARAGINYL BETA-HYDROXYLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12366 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Asp-B-Hydro_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp_Arg_Hydrox UniProtKB/Swiss-Prot
  TPR_16 UniProtKB/Swiss-Prot
PharmGKB PA25056 PharmGKB
PROSITE TPR UniProtKB/Swiss-Prot
  TPR_REGION UniProtKB/Swiss-Prot
SMART TPR UniProtKB/Swiss-Prot
Superfamily-SCOP Clavaminate synthase-like UniProtKB/Swiss-Prot
  SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WUJ2_HUMAN UniProtKB/TrEMBL
  A0A087WW05_HUMAN UniProtKB/TrEMBL
  A0A087WW51_HUMAN UniProtKB/TrEMBL
  A0A087X0J4_HUMAN UniProtKB/TrEMBL
  A0A0A0MSK8 ENTREZGENE
  A6NDF4 ENTREZGENE
  A6NHI2 ENTREZGENE
  A8K721 ENTREZGENE, UniProtKB/TrEMBL
  ASPH_HUMAN UniProtKB/Swiss-Prot
  B3GQE5 ENTREZGENE, UniProtKB/TrEMBL
  B4DIC9 ENTREZGENE
  B4DQ07 ENTREZGENE, UniProtKB/TrEMBL
  B4E2K4 ENTREZGENE
  B7ZM95 ENTREZGENE
  B7ZM96 ENTREZGENE, UniProtKB/TrEMBL
  B8Y0L3_HUMAN UniProtKB/TrEMBL
  E5RG29 ENTREZGENE, UniProtKB/TrEMBL
  E5RG56 ENTREZGENE, UniProtKB/TrEMBL
  E5RGP5 ENTREZGENE
  E5RHJ2_HUMAN UniProtKB/TrEMBL
  E5RHK2_HUMAN UniProtKB/TrEMBL
  E5RJL3_HUMAN UniProtKB/TrEMBL
  F5H667 ENTREZGENE
  G3XAN5 ENTREZGENE, UniProtKB/TrEMBL
  L8EA92_HUMAN UniProtKB/TrEMBL
  Q12797 ENTREZGENE
  Q6NXR7 ENTREZGENE
  Q6PJH4 ENTREZGENE, UniProtKB/TrEMBL
  Q8TB28 ENTREZGENE
  Q9H291 ENTREZGENE
  Q9H2C4 ENTREZGENE
  Q9NRI0 ENTREZGENE
  Q9NRI1 ENTREZGENE
  Q9Y4J0 ENTREZGENE
UniProt Secondary A0A0A0MSK8 UniProtKB/Swiss-Prot
  A6NDF4 UniProtKB/Swiss-Prot
  A6NHI2 UniProtKB/Swiss-Prot
  B4DIC9 UniProtKB/Swiss-Prot
  B4E2K4 UniProtKB/Swiss-Prot
  B7ZM95 UniProtKB/Swiss-Prot
  E5RGP5 UniProtKB/Swiss-Prot
  F5H667 UniProtKB/Swiss-Prot
  Q6NXR7 UniProtKB/Swiss-Prot
  Q8TB28 UniProtKB/Swiss-Prot
  Q9H291 UniProtKB/Swiss-Prot
  Q9H2C4 UniProtKB/Swiss-Prot
  Q9NRI0 UniProtKB/Swiss-Prot
  Q9NRI1 UniProtKB/Swiss-Prot
  Q9Y4J0 UniProtKB/Swiss-Prot