Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Breast Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16837820 | |
|
Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Breast Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16837820 | |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
# | 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 |
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 |
SLC28A1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Slc28a1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Slc28a1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Slc28a1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
LOC129392921 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PDE8A (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Slc28a1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SLC28A1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SLC28A1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Slc28a1 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in SLC28A1
56 total 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 |
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. |
RH102783 |
|
|||||||||||||||||||||||||||||||||||
D15S1123 |
|
|||||||||||||||||||||||||||||||||||
SLC28A1_4162 |
|
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 |
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 |
RefSeq Acc Id: | ENST00000286749 ⟹ ENSP00000286749 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000338602 ⟹ ENSP00000341629 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000394573 ⟹ ENSP00000378074 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000538177 ⟹ ENSP00000443752 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001287761 ⟹ NP_001274690 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001287762 ⟹ NP_001274691 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001321721 ⟹ NP_001308650 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001321722 ⟹ NP_001308651 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_004213 ⟹ NP_004204 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_201651 ⟹ NP_964014 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011522203 ⟹ XP_011520505 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011522204 ⟹ XP_011520506 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011522205 ⟹ XP_011520507 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011522206 ⟹ XP_011520508 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011522208 ⟹ XP_011520510 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011522209 ⟹ XP_011520511 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011522210 ⟹ XP_011520512 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011522212 ⟹ XP_011520514 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011522214 ⟹ XP_011520516 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011522215 ⟹ XP_011520517 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011522216 ⟹ XP_011520518 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011522217 ⟹ XP_011520519 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011522218 ⟹ XP_011520520 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017022723 ⟹ XP_016878212 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047433320 ⟹ XP_047289276 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047433322 ⟹ XP_047289278 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379174 ⟹ XP_054235149 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379175 ⟹ XP_054235150 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379176 ⟹ XP_054235151 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379177 ⟹ XP_054235152 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379178 ⟹ XP_054235153 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379179 ⟹ XP_054235154 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379180 ⟹ XP_054235155 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379181 ⟹ XP_054235156 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379182 ⟹ XP_054235157 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379183 ⟹ XP_054235158 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379184 ⟹ XP_054235159 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379185 ⟹ XP_054235160 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379186 ⟹ XP_054235161 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379187 ⟹ XP_054235162 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379188 ⟹ XP_054235163 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379189 ⟹ XP_054235164 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008489030 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_931945 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
||||||||
Sequence: |
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 |
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) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O00337-F1-model_v2 | AlphaFold | O00337 | 1-649 | view protein structure |
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: |
|
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 |
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 |