SLC28A1 (solute carrier family 28 member 1) - Rat Genome Database

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Gene: SLC28A1 (solute carrier family 28 member 1) Homo sapiens
Analyze
Symbol: SLC28A1
Name: solute carrier family 28 member 1
RGD ID: 733249
HGNC Page HGNC:11001
Description: Enables azole transmembrane transporter activity; pyrimidine- and adenosine-specific:sodium symporter activity; and uridine transmembrane transporter activity. Involved in azole transmembrane transport; nucleoside transport; and pyrimidine-containing compound transmembrane transport. Located in apical plasma membrane; cytosol; and nuclear speck.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CNT 1; CNT1; concentrative nucleoside transporter 1; HCNT1; Na(+)/nucleoside cotransporter 1; sodium-coupled nucleoside transporter 1; sodium/nucleoside cotransporter 1; solute carrier family 28 (concentrative nucleoside transporter), member 1; solute carrier family 28 (sodium-coupled nucleoside transporter), member 1; URCTU
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
GRCh381584,884,662 - 84,975,649 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1584,884,654 - 84,945,798 (+)EnsemblGRCh38hg38GRCh38
GRCh371585,427,893 - 85,518,880 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361583,228,917 - 83,290,033 (+)NCBINCBI36Build 36hg18NCBI36
Build 341583,228,916 - 83,240,271NCBI
Celera1561,854,219 - 61,915,476 (+)NCBICelera
Cytogenetic Map15q25.3NCBI
HuRef1561,513,859 - 61,574,856 (+)NCBIHuRef
CHM1_11585,268,901 - 85,330,248 (+)NCBICHM1_1
T2T-CHM13v2.01582,637,040 - 82,727,893 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
apical plasma membrane  (IDA,IEA,ISO)
brush border membrane  (IEA,ISS)
cytosol  (IDA)
membrane  (IEA)
nuclear speck  (IDA)
plasma membrane  (IBA,IDA,IEA,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9124315   PMID:10087507   PMID:10455109   PMID:11353816   PMID:11396613   PMID:12097333   PMID:12388627   PMID:12411296   PMID:12477932   PMID:14581375   PMID:14668133   PMID:14978229  
PMID:15386342   PMID:15456697   PMID:17187757   PMID:17279631   PMID:17453413   PMID:17926640   PMID:18207572   PMID:18538445   PMID:18600541   PMID:18604194   PMID:18635603   PMID:19074885  
PMID:19107936   PMID:19139132   PMID:19228884   PMID:19647871   PMID:19912163   PMID:20028759   PMID:20392501   PMID:20665488   PMID:20734919   PMID:20854794   PMID:21343396   PMID:21873635  
PMID:21998139   PMID:22005931   PMID:22492015   PMID:22580602   PMID:22644860   PMID:22813716   PMID:23722537   PMID:25600708   PMID:25890497   PMID:28100790   PMID:28385889   PMID:30847922  
PMID:32126230   PMID:32312148   PMID:33910126   PMID:36724073  


Genomics

Comparative Map Data
SLC28A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381584,884,662 - 84,975,649 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1584,884,654 - 84,945,798 (+)EnsemblGRCh38hg38GRCh38
GRCh371585,427,893 - 85,518,880 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361583,228,917 - 83,290,033 (+)NCBINCBI36Build 36hg18NCBI36
Build 341583,228,916 - 83,240,271NCBI
Celera1561,854,219 - 61,915,476 (+)NCBICelera
Cytogenetic Map15q25.3NCBI
HuRef1561,513,859 - 61,574,856 (+)NCBIHuRef
CHM1_11585,268,901 - 85,330,248 (+)NCBICHM1_1
T2T-CHM13v2.01582,637,040 - 82,727,893 (+)NCBIT2T-CHM13v2.0
Slc28a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39780,763,017 - 80,820,164 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl780,764,547 - 80,820,164 (+)EnsemblGRCm39 Ensembl
GRCm38781,113,269 - 81,170,416 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl781,114,799 - 81,170,416 (+)EnsemblGRCm38mm10GRCm38
MGSCv37788,259,685 - 88,315,302 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36780,988,312 - 81,043,929 (+)NCBIMGSCv36mm8
Celera778,524,102 - 78,579,064 (+)NCBICelera
Cytogenetic Map7D3NCBI
cM Map745.71NCBI
Slc28a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81144,490,453 - 144,532,025 (+)NCBIGRCr8
mRatBN7.21135,079,375 - 135,122,791 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1135,081,385 - 135,122,464 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1142,996,262 - 143,037,003 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01150,165,673 - 150,206,416 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01143,078,120 - 143,118,957 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01142,948,942 - 142,992,410 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1142,950,540 - 142,992,615 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01143,893,827 - 143,937,045 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41137,323,995 - 137,365,983 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11137,402,400 - 137,444,389 (+)NCBI
Celera1127,134,227 - 127,174,932 (+)NCBICelera
Cytogenetic Map1q31NCBI
Slc28a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541614,226,278 - 14,268,350 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541614,226,411 - 14,267,962 (-)NCBIChiLan1.0ChiLan1.0
LOC129392921
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21673,843,462 - 73,851,727 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11578,059,718 - 78,119,405 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01563,551,499 - 63,613,461 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11582,875,337 - 82,936,104 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1582,875,339 - 82,935,762 (+)NCBIpanpan1.1panPan2
PanPan1.1 Ensembl1582,875,339 - 82,935,762 (+)Ensemblpanpan1.1panPan2
PDE8A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1354,128,172 - 54,177,544 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl354,128,680 - 54,367,400 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha356,769,895 - 56,819,024 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0354,550,502 - 54,597,148 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1354,068,688 - 54,118,029 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0354,277,112 - 54,326,620 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0354,619,637 - 54,669,008 (+)NCBIUU_Cfam_GSD_1.0
Slc28a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640129,357,594 - 129,406,995 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648316,929,896 - 16,975,969 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648316,929,896 - 16,976,560 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC28A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl752,605,289 - 52,652,876 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1752,606,428 - 52,652,928 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SLC28A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1293,387,226 - 3,469,461 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl293,403,685 - 3,468,626 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605943,590,270 - 43,658,461 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc28a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476818,120,891 - 18,157,944 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476818,117,729 - 18,204,613 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC28A1
56 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q25.2-25.3(chr15:84391435-85185613)x1 copy number loss See cases [RCV000051252] Chr15:84391435..85185613 [GRCh38]
Chr15:84946133..85728844 [GRCh37]
Chr15:82737137..83529848 [NCBI36]
Chr15:15q25.2-25.3		 uncertain significance
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3		 pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3		 pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
NM_004213.4(SLC28A1):c.313G>A (p.Asp105Asn) single nucleotide variant Malignant melanoma [RCV000062943] Chr15:84894975 [GRCh38]
Chr15:85438206 [GRCh37]
Chr15:83239210 [NCBI36]
Chr15:15q25.3		 not provided
NM_004213.4(SLC28A1):c.1341C>T (p.Ser447=) single nucleotide variant Malignant melanoma [RCV000062944] Chr15:84935152 [GRCh38]
Chr15:85478383 [GRCh37]
Chr15:83279387 [NCBI36]
Chr15:15q25.3		 not provided
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x1 copy number loss See cases [RCV000135800] Chr15:84391435..85123078 [GRCh38]
Chr15:84946133..85666309 [GRCh37]
Chr15:82737137..83467313 [NCBI36]
Chr15:15q25.2-25.3		 uncertain significance
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1 copy number loss See cases [RCV000137052] Chr15:82560915..85185613 [GRCh38]
Chr15:83229665..85728844 [GRCh37]
Chr15:81026720..83529848 [NCBI36]
Chr15:15q25.2-25.3		 likely pathogenic|uncertain significance
GRCh38/hg38 15q25.2-25.3(chr15:84391435-85157671)x1 copy number loss See cases [RCV000137479] Chr15:84391435..85157671 [GRCh38]
Chr15:84946133..85700902 [GRCh37]
Chr15:82737137..83501906 [NCBI36]
Chr15:15q25.2-25.3		 uncertain significance
GRCh38/hg38 15q25.2-25.3(chr15:84260061-85181753)x1 copy number loss See cases [RCV000141915] Chr15:84260061..85181753 [GRCh38]
Chr15:84928813..85724984 [GRCh37]
Chr15:82719817..83525988 [NCBI36]
Chr15:15q25.2-25.3		 uncertain significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x3 copy number gain See cases [RCV000142585] Chr15:84391435..85123078 [GRCh38]
Chr15:84946133..85666309 [GRCh37]
Chr15:82737137..83467313 [NCBI36]
Chr15:15q25.2-25.3		 uncertain significance
GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1 copy number loss See cases [RCV000143125] Chr15:82627214..85243616 [GRCh38]
Chr15:83083418..85786847 [GRCh37]
Chr15:80880473..83587851 [NCBI36]
Chr15:15q25.2-25.3		 likely pathogenic
GRCh38/hg38 15q25.3(chr15:84968749-85123019)x3 copy number gain See cases [RCV000139943] Chr15:84968749..85123019 [GRCh38]
Chr15:85511980..85666250 [GRCh37]
Chr15:83312984..83467254 [NCBI36]
Chr15:15q25.3		 likely benign
GRCh37/hg19 15q25.2-25.3(chr15:85146993-85671005)x1 copy number loss See cases [RCV000240117] Chr15:85146993..85671005 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3		 pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
GRCh37/hg19 15q25.2-25.3(chr15:84931022-85728834)x1 copy number loss VATER association [RCV000521465] Chr15:84931022..85728834 [GRCh37]
Chr15:15q25.2-25.3		 likely benign
GRCh37/hg19 15q25.2-25.3(chr15:85172183-85680021)x3 copy number gain See cases [RCV000599229] Chr15:85172183..85680021 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q25.2-25.3(chr15:84789775-85710777)x3 copy number gain not provided [RCV000415974] Chr15:84789775..85710777 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3		 pathogenic
GRCh37/hg19 15q25.2-25.3(chr15:85146993-85670946)x1 copy number loss See cases [RCV000446360] Chr15:85146993..85670946 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q25.2-25.3(chr15:85146993-85670946)x3 copy number gain See cases [RCV000447248] Chr15:85146993..85670946 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q25.2-25.3(chr15:84915078-85724984)x1 copy number loss See cases [RCV000447720] Chr15:84915078..85724984 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
GRCh37/hg19 15q25.2-25.3(chr15:84827468-85724984)x1 copy number loss See cases [RCV000448855] Chr15:84827468..85724984 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q25.2-25.3(chr15:84928829-85724984)x1 copy number loss See cases [RCV000511466] Chr15:84928829..85724984 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
GRCh37/hg19 15q25.2-25.3(chr15:85085321-85709192)x3 copy number gain See cases [RCV000511776] Chr15:85085321..85709192 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
GRCh37/hg19 15q25.2-25.3(chr15:85084470-85724984)x1 copy number loss See cases [RCV000511878] Chr15:85084470..85724984 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
GRCh37/hg19 15q25.2-25.3(chr15:85149690-85666309) copy number loss Hearing impairment [RCV000626506] Chr15:85149690..85666309 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
NM_004213.5(SLC28A1):c.592C>T (p.His198Tyr) single nucleotide variant Inborn genetic diseases [RCV003287038] Chr15:84904227 [GRCh38]
Chr15:85447458 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.758T>C (p.Phe253Ser) single nucleotide variant Inborn genetic diseases [RCV003272797] Chr15:84908758 [GRCh38]
Chr15:85451989 [GRCh37]
Chr15:15q25.3		 uncertain significance
GRCh37/hg19 15q25.2-25.3(chr15:85084470-85725149)x1 copy number loss See cases [RCV000512178] Chr15:85084470..85725149 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
Single allele deletion not provided [RCV000677914] Chr15:84546236..85127774 [GRCh38]
Chr15:85089467..85671005 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2 copy number gain not provided [RCV000683712] Chr15:79023343..87158823 [GRCh37]
Chr15:15q25.1-25.3		 pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
GRCh37/hg19 15q25.2-25.3(chr15:85037316-85728834)x3 copy number gain not provided [RCV000738855] Chr15:85037316..85728834 [GRCh37]
Chr15:15q25.2-25.3		 benign
GRCh37/hg19 15q25.3(chr15:85461794-85501528)x1 copy number loss not provided [RCV000738858] Chr15:85461794..85501528 [GRCh37]
Chr15:15q25.3		 benign
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q25.2-25.3(chr15:85147499-85681120) copy number loss not provided [RCV000767760] Chr15:85147499..85681120 [GRCh37]
Chr15:15q25.2-25.3		 likely pathogenic
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) copy number loss not provided [RCV000767759] Chr15:83883823..92165844 [GRCh37]
Chr15:15q25.2-26.1		 pathogenic
NM_004213.5(SLC28A1):c.1636T>C (p.Ser546Pro) single nucleotide variant SLC28A1-related condition [RCV003938158]|Uridine-cytidineuria [RCV000785742]|not provided [RCV003411726] Chr15:84943499 [GRCh38]
Chr15:85486730 [GRCh37]
Chr15:15q25.3		 affects|benign
NM_004213.5(SLC28A1):c.1013T>C (p.Val338Ala) single nucleotide variant High myopia [RCV000785690] Chr15:84924040 [GRCh38]
Chr15:85467271 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.1528C>T (p.Arg510Cys) single nucleotide variant SLC28A1-related condition [RCV003965581]|Uridine-cytidineuria [RCV000785743] Chr15:84935465 [GRCh38]
Chr15:85478696 [GRCh37]
Chr15:15q25.3		 affects|benign
NM_004213.5(SLC28A1):c.1682G>A (p.Arg561Gln) single nucleotide variant Uridine-cytidineuria [RCV000785744] Chr15:84944584 [GRCh38]
Chr15:85487815 [GRCh37]
Chr15:15q25.3		 affects
NM_004213.5(SLC28A1):c.630A>T (p.Gly210=) single nucleotide variant SLC28A1-related condition [RCV003978365]|not provided [RCV000961012] Chr15:84905565 [GRCh38]
Chr15:85448796 [GRCh37]
Chr15:15q25.3		 benign
GRCh37/hg19 15q25.2-25.3(chr15:84884801-85724984)x1 copy number loss not provided [RCV000848401] Chr15:84884801..85724984 [GRCh37]
Chr15:15q25.2-25.3		 pathogenic
NM_004213.5(SLC28A1):c.386A>C (p.Lys129Thr) single nucleotide variant Inborn genetic diseases [RCV003274598] Chr15:84895048 [GRCh38]
Chr15:85438279 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.9C>T (p.Asn3=) single nucleotide variant SLC28A1-related condition [RCV003978307]|not provided [RCV000957334] Chr15:84887769 [GRCh38]
Chr15:85431000 [GRCh37]
Chr15:15q25.3		 benign
GRCh37/hg19 15q25.2-25.3(chr15:84908070-85681134) copy number loss WDR73-related disorders [RCV003236739] Chr15:84908070..85681134 [GRCh37]
Chr15:15q25.2-25.3		 pathogenic
GRCh37/hg19 15q25.2-25.3(chr15:84827469-85786847)x1 copy number loss not provided [RCV002472536] Chr15:84827469..85786847 [GRCh37]
Chr15:15q25.2-25.3		 likely pathogenic
GRCh37/hg19 15q25.2-25.3(chr15:84928663-85786847)x1 copy number loss not provided [RCV001006715] Chr15:84928663..85786847 [GRCh37]
Chr15:15q25.2-25.3		 likely pathogenic|uncertain significance
GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1 copy number loss not provided [RCV001259716] Chr15:83201955..85786847 [GRCh37]
Chr15:15q25.2-25.3		 pathogenic
GRCh37/hg19 15q25.2-25.3(chr15:85089553-85876582)x3 copy number gain not provided [RCV001259717] Chr15:85089553..85876582 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
GRCh37/hg19 15q25.2-25.3(chr15:85084471-85528298)x3 copy number gain not provided [RCV002473552] Chr15:85084471..85528298 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
GRCh37/hg19 15q25.2-25.3(chr15:84910816-85786847)x1 copy number loss not provided [RCV002474932] Chr15:84910816..85786847 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
NM_004213.5(SLC28A1):c.1389C>G (p.Ile463Met) single nucleotide variant Inborn genetic diseases [RCV002945894] Chr15:84935326 [GRCh38]
Chr15:85478557 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.1301C>T (p.Ala434Val) single nucleotide variant Inborn genetic diseases [RCV002906353] Chr15:84935112 [GRCh38]
Chr15:85478343 [GRCh37]
Chr15:15q25.3		 uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_004213.5(SLC28A1):c.376C>T (p.Arg126Cys) single nucleotide variant Inborn genetic diseases [RCV002797681] Chr15:84895038 [GRCh38]
Chr15:85438269 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.331G>A (p.Ala111Thr) single nucleotide variant Inborn genetic diseases [RCV002758192] Chr15:84894993 [GRCh38]
Chr15:85438224 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.1532G>A (p.Arg511His) single nucleotide variant Inborn genetic diseases [RCV002846105] Chr15:84935469 [GRCh38]
Chr15:85478700 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.448C>A (p.Leu150Ile) single nucleotide variant Inborn genetic diseases [RCV002757420] Chr15:84895110 [GRCh38]
Chr15:85438341 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.715C>T (p.Arg239Trp) single nucleotide variant Inborn genetic diseases [RCV002739123] Chr15:84905650 [GRCh38]
Chr15:85448881 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.1269G>C (p.Lys423Asn) single nucleotide variant Inborn genetic diseases [RCV002665860] Chr15:84935080 [GRCh38]
Chr15:85478311 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.1918C>T (p.Arg640Trp) single nucleotide variant Inborn genetic diseases [RCV002957089] Chr15:84945168 [GRCh38]
Chr15:85488399 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.1489G>A (p.Glu497Lys) single nucleotide variant Inborn genetic diseases [RCV002697529] Chr15:84935426 [GRCh38]
Chr15:85478657 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.1366C>G (p.Gln456Glu) single nucleotide variant Inborn genetic diseases [RCV002854055] Chr15:84935177 [GRCh38]
Chr15:85478408 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.601G>A (p.Ala201Thr) single nucleotide variant Inborn genetic diseases [RCV003006790] Chr15:84904236 [GRCh38]
Chr15:85447467 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.1160C>T (p.Pro387Leu) single nucleotide variant Inborn genetic diseases [RCV002988222] Chr15:84933221 [GRCh38]
Chr15:85476452 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.612G>C (p.Trp204Cys) single nucleotide variant Inborn genetic diseases [RCV002989423] Chr15:84905547 [GRCh38]
Chr15:85448778 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.71T>A (p.Met24Lys) single nucleotide variant Inborn genetic diseases [RCV002835520] Chr15:84887831 [GRCh38]
Chr15:85431062 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.70A>C (p.Met24Leu) single nucleotide variant Inborn genetic diseases [RCV002813866] Chr15:84887830 [GRCh38]
Chr15:85431061 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.1781G>A (p.Arg594Lys) single nucleotide variant Inborn genetic diseases [RCV002725202] Chr15:84944774 [GRCh38]
Chr15:85488005 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.919G>A (p.Glu307Lys) single nucleotide variant Inborn genetic diseases [RCV002722653] Chr15:84921031 [GRCh38]
Chr15:85464262 [GRCh37]
Chr15:15q25.3		 uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 copy number gain not provided [RCV003222840] Chr15:84228005..102264590 [GRCh37]
Chr15:15q25.2-26.3		 pathogenic
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3		 pathogenic
NM_004213.5(SLC28A1):c.1768C>T (p.Leu590Phe) single nucleotide variant Inborn genetic diseases [RCV003376079] Chr15:84944761 [GRCh38]
Chr15:85487992 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.1076C>G (p.Ser359Cys) single nucleotide variant Inborn genetic diseases [RCV003374167] Chr15:84924103 [GRCh38]
Chr15:85467334 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.1208C>G (p.Thr403Ser) single nucleotide variant Inborn genetic diseases [RCV003362085] Chr15:84933269 [GRCh38]
Chr15:85476500 [GRCh37]
Chr15:15q25.3		 uncertain significance
GRCh37/hg19 15q25.2-25.3(chr15:83169558-85779567)x3 copy number gain not provided [RCV003485074] Chr15:83169558..85779567 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
GRCh37/hg19 15q25.2-25.3(chr15:85084471-85724984)x3 copy number gain not provided [RCV003485075] Chr15:85084471..85724984 [GRCh37]
Chr15:15q25.2-25.3		 uncertain significance
GRCh37/hg19 15q25.3(chr15:85363198-85619122)x3 copy number gain not provided [RCV003485076] Chr15:85363198..85619122 [GRCh37]
Chr15:15q25.3		 uncertain significance
NM_004213.5(SLC28A1):c.440G>A (p.Arg147His) single nucleotide variant SLC28A1-related condition [RCV003929061]|not provided [RCV003400996] Chr15:84895102 [GRCh38]
Chr15:85438333 [GRCh37]
Chr15:15q25.3		 benign|likely benign
NM_004213.5(SLC28A1):c.796-5G>A single nucleotide variant SLC28A1-related condition [RCV003914578] Chr15:84918519 [GRCh38]
Chr15:85461750 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.565G>A (p.Val189Ile) single nucleotide variant SLC28A1-related condition [RCV003974663] Chr15:84904200 [GRCh38]
Chr15:85447431 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.419_420insTGT (p.Leu140_Lys141insVal) insertion SLC28A1-related condition [RCV003982104] Chr15:84895080..84895081 [GRCh38]
Chr15:85438311..85438312 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.1017C>T (p.His339=) single nucleotide variant SLC28A1-related condition [RCV003982197] Chr15:84924044 [GRCh38]
Chr15:85467275 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.461+297C>G single nucleotide variant SLC28A1-related condition [RCV003956830] Chr15:84895420 [GRCh38]
Chr15:85438651 [GRCh37]
Chr15:15q25.3		 likely benign
NM_004213.5(SLC28A1):c.1874+7dup duplication SLC28A1-related condition [RCV003976622] Chr15:84944871..84944872 [GRCh38]
Chr15:85488102..85488103 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.1405C>A (p.Arg469=) single nucleotide variant SLC28A1-related condition [RCV003936802] Chr15:84935342 [GRCh38]
Chr15:85478573 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.1149G>A (p.Lys383=) single nucleotide variant SLC28A1-related condition [RCV003981904] Chr15:84933210 [GRCh38]
Chr15:85476441 [GRCh37]
Chr15:15q25.3		 benign
NM_001321722.2(SLC28A1):c.1902C>T (p.Ser634=) single nucleotide variant SLC28A1-related condition [RCV003914595] Chr15:84975532 [GRCh38]
Chr15:85518763 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.958-9T>C single nucleotide variant SLC28A1-related condition [RCV003977363] Chr15:84923976 [GRCh38]
Chr15:85467207 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.1098G>A (p.Ser366=) single nucleotide variant SLC28A1-related condition [RCV003964049] Chr15:84933159 [GRCh38]
Chr15:85476390 [GRCh37]
Chr15:15q25.3		 likely benign
NM_004213.5(SLC28A1):c.1875-8C>G single nucleotide variant SLC28A1-related condition [RCV003937001] Chr15:84945117 [GRCh38]
Chr15:85488348 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.*8A>G single nucleotide variant SLC28A1-related condition [RCV003962018] Chr15:84945208 [GRCh38]
Chr15:85488439 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.128G>A (p.Ser43Asn) single nucleotide variant SLC28A1-related condition [RCV003937148] Chr15:84888803 [GRCh38]
Chr15:85432034 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.709C>A (p.Gln237Lys) single nucleotide variant SLC28A1-related condition [RCV003979616] Chr15:84905644 [GRCh38]
Chr15:85448875 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.568G>T (p.Ala190Ser) single nucleotide variant SLC28A1-related condition [RCV003932153] Chr15:84904203 [GRCh38]
Chr15:85447434 [GRCh37]
Chr15:15q25.3		 benign
NM_001321721.2(SLC28A1):c.1587A>T (p.Arg529=) single nucleotide variant SLC28A1-related condition [RCV003964452] Chr15:84961531 [GRCh38]
Chr15:85504762 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.835G>A (p.Val279Ile) single nucleotide variant SLC28A1-related condition [RCV003933814] Chr15:84918563 [GRCh38]
Chr15:85461794 [GRCh37]
Chr15:15q25.3		 likely benign
NM_001321721.2(SLC28A1):c.1582-4G>C single nucleotide variant SLC28A1-related condition [RCV003972203] Chr15:84961522 [GRCh38]
Chr15:85504753 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.124T>C (p.Leu42=) single nucleotide variant SLC28A1-related condition [RCV003924525] Chr15:84888799 [GRCh38]
Chr15:85432030 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.1368A>G (p.Gln456=) single nucleotide variant SLC28A1-related condition [RCV003982165] Chr15:84935179 [GRCh38]
Chr15:85478410 [GRCh37]
Chr15:15q25.3		 benign
NM_004213.5(SLC28A1):c.97-10C>T single nucleotide variant SLC28A1-related condition [RCV003979137] Chr15:84888762 [GRCh38]
Chr15:85431993 [GRCh37]
Chr15:15q25.3		 likely benign
NM_004213.5(SLC28A1):c.1561G>A (p.Asp521Asn) single nucleotide variant SLC28A1-related condition [RCV003979792] Chr15:84935498 [GRCh38]
Chr15:85478729 [GRCh37]
Chr15:15q25.3		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2029
Count of miRNA genes:766
Interacting mature miRNAs:875
Transcripts:ENST00000286749, ENST00000338602, ENST00000394573, ENST00000537216, ENST00000537624, ENST00000537703, ENST00000538177
Prediction methods:Microtar, Miranda, Rnahybrid
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
RH102783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371585,439,067 - 85,439,196UniSTSGRCh37
Build 361583,240,071 - 83,240,200RGDNCBI36
Celera1561,865,360 - 61,865,489RGD
Cytogenetic Map15q25.3UniSTS
HuRef1561,525,005 - 61,525,134UniSTS
GeneMap99-GB4 RH Map15302.93UniSTS
D15S1123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371585,479,028 - 85,479,131UniSTSGRCh37
Build 361583,280,032 - 83,280,135RGDNCBI36
Celera1561,905,481 - 61,905,584RGD
Cytogenetic Map15q25.3UniSTS
HuRef1561,564,856 - 61,564,959UniSTS
SLC28A1_4162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371585,488,402 - 85,489,158UniSTSGRCh37
Build 361583,289,406 - 83,290,162RGDNCBI36
Celera1561,914,851 - 61,915,608RGD
HuRef1561,574,231 - 61,574,988UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 81 350 350 76 350 1 1 226 5
Low 83 677 158 74 86 69 434 458 116 72 123 38 7 34 421 2
Below cutoff 1835 2080 1066 186 1022 38 3294 1570 2896 75 1156 1179 154 1123 2093 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001287761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF309632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI765705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000286749   ⟹   ENSP00000286749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1584,884,678 - 84,945,796 (+)Ensembl
RefSeq Acc Id: ENST00000338602   ⟹   ENSP00000341629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1584,884,654 - 84,896,046 (+)Ensembl
RefSeq Acc Id: ENST00000394573   ⟹   ENSP00000378074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1584,884,662 - 84,945,798 (+)Ensembl
RefSeq Acc Id: ENST00000538177   ⟹   ENSP00000443752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1584,884,661 - 84,945,796 (+)Ensembl
RefSeq Acc Id: NM_001287761   ⟹   NP_001274690
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,945,798 (+)NCBI
HuRef1561,513,838 - 61,574,856 (+)NCBI
CHM1_11585,268,880 - 85,330,248 (+)NCBI
T2T-CHM13v2.01582,637,040 - 82,698,070 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287762   ⟹   NP_001274691
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,945,798 (+)NCBI
HuRef1561,513,838 - 61,574,856 (+)NCBI
CHM1_11585,268,880 - 85,330,248 (+)NCBI
T2T-CHM13v2.01582,637,040 - 82,698,070 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321721   ⟹   NP_001308650
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,975,649 (+)NCBI
CHM1_11585,268,880 - 85,360,077 (+)NCBI
T2T-CHM13v2.01582,637,040 - 82,727,893 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321722   ⟹   NP_001308651
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,975,649 (+)NCBI
CHM1_11585,268,880 - 85,360,077 (+)NCBI
T2T-CHM13v2.01582,637,040 - 82,727,893 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004213   ⟹   NP_004204
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,945,798 (+)NCBI
GRCh371585,427,794 - 85,489,027 (+)NCBI
Build 361583,228,917 - 83,290,033 (+)NCBI Archive
HuRef1561,513,838 - 61,574,856 (+)NCBI
CHM1_11585,268,880 - 85,330,248 (+)NCBI
T2T-CHM13v2.01582,637,040 - 82,698,070 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201651   ⟹   NP_964014
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,896,046 (+)NCBI
GRCh371585,427,794 - 85,489,027 (+)NCBI
Build 361583,228,917 - 83,240,272 (+)NCBI Archive
HuRef1561,513,838 - 61,574,856 (+)NCBI
CHM1_11585,268,880 - 85,280,267 (+)NCBI
T2T-CHM13v2.01582,637,040 - 82,648,382 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522203   ⟹   XP_011520505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,952,642 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522204   ⟹   XP_011520506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,952,642 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522205   ⟹   XP_011520507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,952,642 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522206   ⟹   XP_011520508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,952,642 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522208   ⟹   XP_011520510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,952,642 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522209   ⟹   XP_011520511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,952,642 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522210   ⟹   XP_011520512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,951,187 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522212   ⟹   XP_011520514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,951,216 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522214   ⟹   XP_011520516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,937,602 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522215   ⟹   XP_011520517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,952,642 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522216   ⟹   XP_011520518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,887,498 - 84,952,642 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522217   ⟹   XP_011520519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,945,798 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522218   ⟹   XP_011520520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,926,775 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022723   ⟹   XP_016878212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,952,464 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433320   ⟹   XP_047289276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,887,498 - 84,952,642 (+)NCBI
RefSeq Acc Id: XM_047433322   ⟹   XP_047289278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,935,495 (+)NCBI
RefSeq Acc Id: XM_054379174   ⟹   XP_054235149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,704,915 (+)NCBI
RefSeq Acc Id: XM_054379175   ⟹   XP_054235150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,704,915 (+)NCBI
RefSeq Acc Id: XM_054379176   ⟹   XP_054235151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,704,915 (+)NCBI
RefSeq Acc Id: XM_054379177   ⟹   XP_054235152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,704,915 (+)NCBI
RefSeq Acc Id: XM_054379178   ⟹   XP_054235153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,639,876 - 82,704,915 (+)NCBI
RefSeq Acc Id: XM_054379179   ⟹   XP_054235154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,704,915 (+)NCBI
RefSeq Acc Id: XM_054379180   ⟹   XP_054235155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,704,915 (+)NCBI
RefSeq Acc Id: XM_054379181   ⟹   XP_054235156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,703,459 (+)NCBI
RefSeq Acc Id: XM_054379182   ⟹   XP_054235157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,704,737 (+)NCBI
RefSeq Acc Id: XM_054379183   ⟹   XP_054235158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,703,488 (+)NCBI
RefSeq Acc Id: XM_054379184   ⟹   XP_054235159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,689,869 (+)NCBI
RefSeq Acc Id: XM_054379185   ⟹   XP_054235160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,704,915 (+)NCBI
RefSeq Acc Id: XM_054379186   ⟹   XP_054235161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,698,070 (+)NCBI
RefSeq Acc Id: XM_054379187   ⟹   XP_054235162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,639,876 - 82,704,915 (+)NCBI
RefSeq Acc Id: XM_054379188   ⟹   XP_054235163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,687,765 (+)NCBI
RefSeq Acc Id: XM_054379189   ⟹   XP_054235164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,678,953 (+)NCBI
RefSeq Acc Id: XR_008489030
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01582,637,040 - 82,681,593 (+)NCBI
RefSeq Acc Id: XR_931945
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,662 - 84,929,315 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001274690 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274691 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308650 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308651 (Get FASTA)   NCBI Sequence Viewer  
  NP_004204 (Get FASTA)   NCBI Sequence Viewer  
  NP_964014 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520505 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520506 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520507 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520508 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520510 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520511 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520512 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520514 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520516 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520517 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520518 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520519 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520520 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878212 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289276 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289278 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235149 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235150 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235151 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235152 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235153 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235154 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235155 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235156 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235157 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235158 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235159 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235160 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235161 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235162 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235163 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235164 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB53838 (Get FASTA)   NCBI Sequence Viewer  
  AAB53839 (Get FASTA)   NCBI Sequence Viewer  
  AAH29788 (Get FASTA)   NCBI Sequence Viewer  
  AAH39898 (Get FASTA)   NCBI Sequence Viewer  
  AAI26205 (Get FASTA)   NCBI Sequence Viewer  
  AAI26207 (Get FASTA)   NCBI Sequence Viewer  
  AAL09447 (Get FASTA)   NCBI Sequence Viewer  
  BAF84686 (Get FASTA)   NCBI Sequence Viewer  
  BAH12251 (Get FASTA)   NCBI Sequence Viewer  
  BAH12252 (Get FASTA)   NCBI Sequence Viewer  
  BAH12260 (Get FASTA)   NCBI Sequence Viewer  
  BAH12769 (Get FASTA)   NCBI Sequence Viewer  
  EAX01962 (Get FASTA)   NCBI Sequence Viewer  
  EAX01963 (Get FASTA)   NCBI Sequence Viewer  
  EAX01964 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000286749
  ENSP00000286749.3
  ENSP00000341629
  ENSP00000341629.2
  ENSP00000378074
  ENSP00000378074.1
  ENSP00000443752
  ENSP00000443752.1
GenBank Protein O00337 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004204   ⟸   NM_004213
- Peptide Label: isoform 1
- UniProtKB: Q5U648 (UniProtKB/Swiss-Prot),   Q5U5S6 (UniProtKB/Swiss-Prot),   O00336 (UniProtKB/Swiss-Prot),   O00335 (UniProtKB/Swiss-Prot),   A8K7I2 (UniProtKB/Swiss-Prot),   A0AV42 (UniProtKB/Swiss-Prot),   Q9UEZ9 (UniProtKB/Swiss-Prot),   O00337 (UniProtKB/Swiss-Prot),   Q96PL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_964014   ⟸   NM_201651
- Peptide Label: isoform 2
- UniProtKB: O00337 (UniProtKB/Swiss-Prot),   B7Z3L6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274691   ⟸   NM_001287762
- Peptide Label: isoform 1
- UniProtKB: Q5U648 (UniProtKB/Swiss-Prot),   Q5U5S6 (UniProtKB/Swiss-Prot),   O00336 (UniProtKB/Swiss-Prot),   O00335 (UniProtKB/Swiss-Prot),   A8K7I2 (UniProtKB/Swiss-Prot),   A0AV42 (UniProtKB/Swiss-Prot),   Q9UEZ9 (UniProtKB/Swiss-Prot),   O00337 (UniProtKB/Swiss-Prot),   Q96PL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274690   ⟸   NM_001287761
- Peptide Label: isoform 3
- UniProtKB: B7Z3L6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520510   ⟸   XM_011522208
- Peptide Label: isoform X2
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520506   ⟸   XM_011522204
- Peptide Label: isoform X1
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520507   ⟸   XM_011522205
- Peptide Label: isoform X1
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520508   ⟸   XM_011522206
- Peptide Label: isoform X1
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520505   ⟸   XM_011522203
- Peptide Label: isoform X1
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520517   ⟸   XM_011522215
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011520511   ⟸   XM_011522209
- Peptide Label: isoform X3
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520514   ⟸   XM_011522212
- Peptide Label: isoform X6
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520512   ⟸   XM_011522210
- Peptide Label: isoform X4
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520519   ⟸   XM_011522217
- Peptide Label: isoform X9
- UniProtKB: B7Z3L6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520516   ⟸   XM_011522214
- Peptide Label: isoform X7
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520520   ⟸   XM_011522218
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011520518   ⟸   XM_011522216
- Peptide Label: isoform X10
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308651   ⟸   NM_001321722
- Peptide Label: isoform 5
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308650   ⟸   NM_001321721
- Peptide Label: isoform 4
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL),   B7Z533 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878212   ⟸   XM_017022723
- Peptide Label: isoform X5
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000341629   ⟸   ENST00000338602
RefSeq Acc Id: ENSP00000286749   ⟸   ENST00000286749
RefSeq Acc Id: ENSP00000443752   ⟸   ENST00000538177
RefSeq Acc Id: ENSP00000378074   ⟸   ENST00000394573
RefSeq Acc Id: XP_047289278   ⟸   XM_047433322
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047289276   ⟸   XM_047433320
- Peptide Label: isoform X1
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235150   ⟸   XM_054379175
- Peptide Label: isoform X1
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235149   ⟸   XM_054379174
- Peptide Label: isoform X1
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235160   ⟸   XM_054379185
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054235155   ⟸   XM_054379180
- Peptide Label: isoform X3
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235151   ⟸   XM_054379176
- Peptide Label: isoform X1
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235152   ⟸   XM_054379177
- Peptide Label: isoform X1
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235154   ⟸   XM_054379179
- Peptide Label: isoform X2
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235157   ⟸   XM_054379182
- Peptide Label: isoform X5
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235158   ⟸   XM_054379183
- Peptide Label: isoform X6
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235156   ⟸   XM_054379181
- Peptide Label: isoform X4
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235161   ⟸   XM_054379186
- Peptide Label: isoform X9
- UniProtKB: B7Z3L6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235159   ⟸   XM_054379184
- Peptide Label: isoform X7
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235163   ⟸   XM_054379188
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054235164   ⟸   XM_054379189
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054235153   ⟸   XM_054379178
- Peptide Label: isoform X1
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235162   ⟸   XM_054379187
- Peptide Label: isoform X10
- UniProtKB: B7Z3L5 (UniProtKB/TrEMBL)
Protein Domains
Concentrative nucleoside transporter C-terminal   Concentrative nucleoside transporter N-terminal   Nucleoside transporter/FeoB GTPase Gate

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00337-F1-model_v2 AlphaFold O00337 1-649 view protein structure

Promoters
RGD ID:7230401
Promoter ID:EPDNEW_H20946
Type:initiation region
Name:SLC28A1_1
Description:solute carrier family 28 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381584,884,663 - 84,884,723EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11001 AgrOrtholog
COSMIC SLC28A1 COSMIC
Ensembl Genes ENSG00000156222 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000286749 ENTREZGENE
  ENST00000286749.3 UniProtKB/Swiss-Prot
  ENST00000338602 ENTREZGENE
  ENST00000338602.6 UniProtKB/Swiss-Prot
  ENST00000394573 ENTREZGENE
  ENST00000394573.6 UniProtKB/Swiss-Prot
  ENST00000538177 ENTREZGENE
  ENST00000538177.5 UniProtKB/TrEMBL
GTEx ENSG00000156222 GTEx
HGNC ID HGNC:11001 ENTREZGENE
Human Proteome Map SLC28A1 Human Proteome Map
InterPro C_nuclsd_transpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C_nuclsd_transpt_met_bac UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CNT_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CNT_N_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gate_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9154 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9154 ENTREZGENE
OMIM 606207 OMIM
PANTHER PTHR10590 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10590:SF16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Gate UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleos_tra2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleos_tra2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA387 PharmGKB, RGD
UniProt A0AV42 ENTREZGENE
  A8K7I2 ENTREZGENE
  B7Z3L5 ENTREZGENE, UniProtKB/TrEMBL
  B7Z3L6 ENTREZGENE, UniProtKB/TrEMBL
  B7Z533 ENTREZGENE, UniProtKB/TrEMBL
  O00335 ENTREZGENE
  O00336 ENTREZGENE
  O00337 ENTREZGENE
  Q5U5S6 ENTREZGENE
  Q5U648 ENTREZGENE
  Q96PL7 ENTREZGENE, UniProtKB/TrEMBL
  Q9UEZ9 ENTREZGENE
  S28A1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0AV42 UniProtKB/Swiss-Prot
  A8K7I2 UniProtKB/Swiss-Prot
  O00335 UniProtKB/Swiss-Prot
  O00336 UniProtKB/Swiss-Prot
  Q5U5S6 UniProtKB/Swiss-Prot
  Q5U648 UniProtKB/Swiss-Prot
  Q9UEZ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC28A1  solute carrier family 28 member 1    solute carrier family 28 (concentrative nucleoside transporter), member 1  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC28A1  solute carrier family 28 (concentrative nucleoside transporter), member 1    solute carrier family 28 (sodium-coupled nucleoside transporter), member 1  Symbol and/or name change 5135510 APPROVED