SLC45A1 (solute carrier family 45 member 1) - Rat Genome Database

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Gene: SLC45A1 (solute carrier family 45 member 1) Homo sapiens
Analyze
Symbol: SLC45A1
Name: solute carrier family 45 member 1
RGD ID: 731828
HGNC Page HGNC:17939
Description: Enables glucose:proton symporter activity. Involved in glucose transmembrane transport. Predicted to be active in membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: deleted in neuroblastoma 5 protein; DNb-5; DNB5; FLJ26758; H+/sugar symporter; IDDNPF; KIAA0458; PAST-A; proton-associated sugar transporter A; solute carrier family 45, member 1
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
GRCh3818,318,114 - 8,344,165 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl18,318,114 - 8,344,167 (+)EnsemblGRCh38hg38GRCh38
GRCh3718,378,174 - 8,404,225 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3618,306,977 - 8,326,814 (+)NCBINCBI36Build 36hg18NCBI36
Build 3418,324,463 - 8,338,480NCBI
Celera17,492,236 - 7,512,007 (+)NCBICelera
Cytogenetic Map1p36.23NCBI
HuRef17,532,573 - 7,552,503 (+)NCBIHuRef
CHM1_118,373,365 - 8,393,233 (+)NCBICHM1_1
T2T-CHM13v2.017,849,807 - 7,876,669 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IBA,IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10729226   PMID:16368877   PMID:16710414   PMID:21873635   PMID:22321011   PMID:23453885   PMID:23468962   PMID:24823311   PMID:28434495   PMID:33845483   PMID:33961781   PMID:35748872  


Genomics

Comparative Map Data
SLC45A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3818,318,114 - 8,344,165 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl18,318,114 - 8,344,167 (+)EnsemblGRCh38hg38GRCh38
GRCh3718,378,174 - 8,404,225 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3618,306,977 - 8,326,814 (+)NCBINCBI36Build 36hg18NCBI36
Build 3418,324,463 - 8,338,480NCBI
Celera17,492,236 - 7,512,007 (+)NCBICelera
Cytogenetic Map1p36.23NCBI
HuRef17,532,573 - 7,552,503 (+)NCBIHuRef
CHM1_118,373,365 - 8,393,233 (+)NCBICHM1_1
T2T-CHM13v2.017,849,807 - 7,876,669 (+)NCBIT2T-CHM13v2.0
Slc45a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394150,713,853 - 150,736,614 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4150,713,029 - 150,736,631 (-)EnsemblGRCm39 Ensembl
GRCm384150,629,396 - 150,652,176 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4150,628,572 - 150,652,174 (-)EnsemblGRCm38mm10GRCm38
MGSCv374150,003,505 - 150,026,283 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364149,473,196 - 149,495,974 (-)NCBIMGSCv36mm8
Celera4152,906,467 - 152,928,714 (-)NCBICelera
Cytogenetic Map4E2NCBI
cM Map481.44NCBI
Slc45a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85166,388,115 - 166,412,183 (-)NCBIGRCr8
mRatBN7.25161,105,137 - 161,129,375 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5161,105,235 - 161,129,303 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5163,821,902 - 163,846,153 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05165,641,057 - 165,665,239 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05165,600,544 - 165,624,787 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05167,672,134 - 167,696,331 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5167,672,145 - 167,696,348 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05171,299,997 - 171,322,391 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45167,784,827 - 167,807,254 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15167,795,015 - 167,817,442 (-)NCBI
Celera5159,360,991 - 159,384,477 (-)NCBICelera
Cytogenetic Map5q36NCBI
Slc45a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554864,701,991 - 4,716,939 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554864,701,889 - 4,732,008 (-)NCBIChiLan1.0ChiLan1.0
SLC45A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21219,886,438 - 219,918,027 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11218,531,186 - 218,559,560 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v017,071,109 - 7,102,698 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.118,314,224 - 8,340,248 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl18,314,224 - 8,340,248 (+)Ensemblpanpan1.1panPan2
SLC45A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1561,838,062 - 61,861,411 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl561,841,451 - 61,862,421 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha561,847,107 - 61,870,449 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0562,054,673 - 62,078,223 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl562,058,118 - 62,078,213 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1562,053,637 - 62,077,147 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0561,918,239 - 61,941,521 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0562,322,460 - 62,345,778 (+)NCBIUU_Cfam_GSD_1.0
Slc45a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505832,169,174 - 32,186,762 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366232,658,897 - 2,673,024 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366232,658,996 - 2,671,993 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC45A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl668,933,912 - 68,950,530 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1668,933,918 - 68,950,534 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2663,294,889 - 63,417,949 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC45A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120123,416,912 - 123,443,016 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20123,416,882 - 123,442,548 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605427,445,462 - 27,471,412 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc45a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248183,654,007 - 3,665,579 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248183,653,999 - 3,669,433 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC45A1
101 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001080397.3(SLC45A1):c.2224C>T (p.Arg742Trp) single nucleotide variant Inborn genetic diseases [RCV003278868]|not provided [RCV000521910] Chr1:8343990 [GRCh38]
Chr1:8404050 [GRCh37]
Chr1:1p36.23		 uncertain significance
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 copy number gain See cases [RCV000051794] Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1 copy number loss See cases [RCV000052045] Chr1:859215..8747647 [GRCh38]
Chr1:794595..8807706 [GRCh37]
Chr1:784458..8730293 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 copy number loss See cases [RCV000051993] Chr1:629025..8537745 [GRCh38]
Chr1:564405..8597804 [GRCh37]
Chr1:554268..8520391 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:5274008-9329925)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|See cases [RCV000053727] Chr1:5274008..9329925 [GRCh38]
Chr1:5334068..9389984 [GRCh37]
Chr1:5233928..9312571 [NCBI36]
Chr1:1p36.32-36.22		 pathogenic
GRCh38/hg38 1p36.31-36.22(chr1:5682528-10863843)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|See cases [RCV000053730] Chr1:5682528..10863843 [GRCh38]
Chr1:5742588..10923900 [GRCh37]
Chr1:5665175..10846487 [NCBI36]
Chr1:1p36.31-36.22		 pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13		 pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] Chr1:3319336..11243395 [GRCh38]
Chr1:3235900..11303452 [GRCh37]
Chr1:3225760..11226039 [NCBI36]
Chr1:1p36.32-36.22		 pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 copy number loss See cases [RCV000053755] Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21		 pathogenic
NM_001080397.2(SLC45A1):c.1275C>T (p.Ile425=) single nucleotide variant Malignant melanoma [RCV000064913] Chr1:8330666 [GRCh38]
Chr1:8390726 [GRCh37]
Chr1:8313313 [NCBI36]
Chr1:1p36.23		 not provided
NM_001080397.2(SLC45A1):c.1134C>T (p.Leu378=) single nucleotide variant Malignant melanoma [RCV000060251] Chr1:8330525 [GRCh38]
Chr1:8390585 [GRCh37]
Chr1:8313172 [NCBI36]
Chr1:1p36.23		 not provided
NM_001080397.3(SLC45A1):c.831G>C (p.Leu277=) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV001807833]|SLC45A1-related condition [RCV003976204] Chr1:8330324 [GRCh38]
Chr1:8390384 [GRCh37]
Chr1:1p36.23		 benign
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 copy number loss See cases [RCV000135807] Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21		 pathogenic|likely benign
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 copy number loss See cases [RCV000141970] Chr1:914086..9567122 [GRCh38]
Chr1:849466..9627180 [GRCh37]
Chr1:839329..9549767 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 copy number loss See cases [RCV000141577] Chr1:902111..9556305 [GRCh38]
Chr1:837491..9616363 [GRCh37]
Chr1:827354..9538950 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 copy number loss See cases [RCV000142615] Chr1:911300..9329925 [GRCh38]
Chr1:846680..9389984 [GRCh37]
Chr1:836543..9312571 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.31-36.23(chr1:6763143-8367573)x1 copy number loss See cases [RCV000142706] Chr1:6763143..8367573 [GRCh38]
Chr1:6823203..8427633 [GRCh37]
Chr1:6745790..8350220 [NCBI36]
Chr1:1p36.31-36.23		 uncertain significance
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
chr1:909238-16736132 complex variant complex Breast ductal adenocarcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 copy number gain See cases [RCV000240284] Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21		 likely pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21		 pathogenic
NM_001080397.3(SLC45A1):c.1443+5C>G single nucleotide variant not provided [RCV000585565] Chr1:8330941 [GRCh38]
Chr1:8391001 [GRCh37]
Chr1:1p36.23		 likely benign
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1 copy number loss See cases [RCV000449468] Chr1:2817420..10670878 [GRCh37]
Chr1:1p36.32-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 copy number loss See cases [RCV000446331] Chr1:849466..9683808 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 copy number loss See cases [RCV000446359] Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21		 pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7301946-11143298)x3 copy number gain See cases [RCV000448222] Chr1:7301946..11143298 [GRCh37]
Chr1:1p36.23-36.22		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001080397.3(SLC45A1):c.629C>T (p.Ala210Val) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV000492063] Chr1:8325956 [GRCh38]
Chr1:8386016 [GRCh37]
Chr1:1p36.23		 pathogenic|likely pathogenic
NM_001080397.3(SLC45A1):c.526C>T (p.Arg176Trp) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV000492068] Chr1:8325853 [GRCh38]
Chr1:8385913 [GRCh37]
Chr1:1p36.23		 pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001080397.3(SLC45A1):c.1150G>T (p.Gly384Cys) single nucleotide variant Inborn genetic diseases [RCV002525216]|not provided [RCV000524028] Chr1:8330643 [GRCh38]
Chr1:8390703 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1648G>A (p.Glu550Lys) single nucleotide variant Inborn genetic diseases [RCV003252191] Chr1:8337866 [GRCh38]
Chr1:8397926 [GRCh37]
Chr1:1p36.23		 uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1 copy number loss See cases [RCV000512568] Chr1:849466..8901938 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7331314-9427796)x1 copy number loss not provided [RCV000684545] Chr1:7331314..9427796 [GRCh37]
Chr1:1p36.23-36.22		 pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7391956-9775929)x1 copy number loss not provided [RCV000684546] Chr1:7391956..9775929 [GRCh37]
Chr1:1p36.23-36.22		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001080397.3(SLC45A1):c.495A>G (p.Ala165=) single nucleotide variant not provided [RCV003312113] Chr1:8325822 [GRCh38]
Chr1:8385882 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1848G>T (p.Leu616=) single nucleotide variant not provided [RCV000924338] Chr1:8339566 [GRCh38]
Chr1:8399626 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.600G>A (p.Val200=) single nucleotide variant SLC45A1-related condition [RCV003958196]|not provided [RCV000904334] Chr1:8325927 [GRCh38]
Chr1:8385987 [GRCh37]
Chr1:1p36.23		 benign|likely benign
NM_001080397.3(SLC45A1):c.1896G>A (p.Ser632=) single nucleotide variant SLC45A1-related condition [RCV003978145]|not provided [RCV000946443] Chr1:8339614 [GRCh38]
Chr1:8399674 [GRCh37]
Chr1:1p36.23		 benign
NM_001080397.3(SLC45A1):c.-43C>G single nucleotide variant not provided [RCV000901376] Chr1:8318168 [GRCh38]
Chr1:8378228 [GRCh37]
Chr1:1p36.23		 benign|likely benign
NM_001080397.3(SLC45A1):c.276C>T (p.Cys92=) single nucleotide variant not provided [RCV000927278] Chr1:8324605 [GRCh38]
Chr1:8384665 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1998G>A (p.Ala666=) single nucleotide variant not provided [RCV000860971] Chr1:8343764 [GRCh38]
Chr1:8403824 [GRCh37]
Chr1:1p36.23		 benign
NM_001080397.3(SLC45A1):c.2142C>T (p.Leu714=) single nucleotide variant not provided [RCV000860972] Chr1:8343908 [GRCh38]
Chr1:8403968 [GRCh37]
Chr1:1p36.23		 benign
NM_001080397.3(SLC45A1):c.660C>T (p.Asp220=) single nucleotide variant SLC45A1-related condition [RCV003960387]|not provided [RCV000920741] Chr1:8325987 [GRCh38]
Chr1:8386047 [GRCh37]
Chr1:1p36.23		 likely benign
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
NM_001080397.3(SLC45A1):c.800G>A (p.Arg267Gln) single nucleotide variant Inborn genetic diseases [RCV003289836] Chr1:8330293 [GRCh38]
Chr1:8390353 [GRCh37]
Chr1:1p36.23		 uncertain significance
GRCh37/hg19 1p36.23(chr1:8095499-8386742)x3 copy number gain not provided [RCV000848745] Chr1:8095499..8386742 [GRCh37]
Chr1:1p36.23		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
NM_001080397.3(SLC45A1):c.1524C>T (p.Ser508=) single nucleotide variant not provided [RCV000860970] Chr1:8335517 [GRCh38]
Chr1:8395577 [GRCh37]
Chr1:1p36.23		 benign
NM_001080397.3(SLC45A1):c.1854C>T (p.Thr618=) single nucleotide variant not provided [RCV000861070] Chr1:8339572 [GRCh38]
Chr1:8399632 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.834C>T (p.Ser278=) single nucleotide variant not provided [RCV003312114] Chr1:8330327 [GRCh38]
Chr1:8390387 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1549T>C (p.Cys517Arg) single nucleotide variant Inborn genetic diseases [RCV003272375] Chr1:8335542 [GRCh38]
Chr1:8395602 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.*20C>T single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV003346651]|not provided [RCV001689228] Chr1:8344033 [GRCh38]
Chr1:8404093 [GRCh37]
Chr1:1p36.23		 benign
NM_001080397.3(SLC45A1):c.882G>A (p.Arg294=) single nucleotide variant not provided [RCV000909120] Chr1:8330375 [GRCh38]
Chr1:8390435 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.744C>T (p.Val248=) single nucleotide variant not provided [RCV000897129] Chr1:8330237 [GRCh38]
Chr1:8390297 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.768G>A (p.Thr256=) single nucleotide variant not provided [RCV000929876] Chr1:8330261 [GRCh38]
Chr1:8390321 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.612C>T (p.Asp204=) single nucleotide variant not provided [RCV000861327] Chr1:8325939 [GRCh38]
Chr1:8385999 [GRCh37]
Chr1:1p36.23		 benign
NM_001080397.3(SLC45A1):c.630G>A (p.Ala210=) single nucleotide variant not provided [RCV000861328] Chr1:8325957 [GRCh38]
Chr1:8386017 [GRCh37]
Chr1:1p36.23		 benign
NM_001080397.3(SLC45A1):c.927G>T (p.Pro309=) single nucleotide variant not provided [RCV000934947] Chr1:8330420 [GRCh38]
Chr1:8390480 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1178G>A (p.Gly393Asp) single nucleotide variant Seizure [RCV001263257] Chr1:8330671 [GRCh38]
Chr1:8390731 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.2208T>G (p.Ala736=) single nucleotide variant not provided [RCV001311618] Chr1:8343974 [GRCh38]
Chr1:8404034 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.935C>T (p.Pro312Leu) single nucleotide variant Inborn genetic diseases [RCV003169570]|Intellectual developmental disorder with neuropsychiatric features [RCV001336135] Chr1:8330428 [GRCh38]
Chr1:8390488 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1582G>A (p.Val528Ile) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV001330213] Chr1:8335575 [GRCh38]
Chr1:8395635 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1895C>T (p.Ser632Leu) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV001330214] Chr1:8339613 [GRCh38]
Chr1:8399673 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.938C>G (p.Ser313Cys) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV001330217] Chr1:8330431 [GRCh38]
Chr1:8390491 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1284C>T (p.Ser428=) single nucleotide variant not provided [RCV001311617] Chr1:8330777 [GRCh38]
Chr1:8390837 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1227C>T (p.Asp409=) single nucleotide variant not provided [RCV001311616] Chr1:8330720 [GRCh38]
Chr1:8390780 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1954C>T (p.Leu652Phe) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV001330215] Chr1:8339672 [GRCh38]
Chr1:8399732 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.814T>C (p.Phe272Leu) single nucleotide variant Inborn genetic diseases [RCV003169569]|Intellectual developmental disorder with neuropsychiatric features [RCV001336134] Chr1:8330307 [GRCh38]
Chr1:8390367 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.110G>T (p.Arg37Leu) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV001330211] Chr1:8324439 [GRCh38]
Chr1:8384499 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1256T>A (p.Leu419Gln) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV001330212]|SLC45A1-related condition [RCV003908525] Chr1:8330749 [GRCh38]
Chr1:8390809 [GRCh37]
Chr1:1p36.23		 likely benign|uncertain significance
NM_001080397.3(SLC45A1):c.742G>C (p.Val248Leu) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV001330216] Chr1:8330235 [GRCh38]
Chr1:8390295 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.738C>T (p.Tyr246=) single nucleotide variant not provided [RCV001726732] Chr1:8330231 [GRCh38]
Chr1:8390291 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.2009G>A (p.Arg670Gln) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV001784086] Chr1:8343775 [GRCh38]
Chr1:8403835 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.942A>G (p.Pro314=) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV001810306]|not provided [RCV001753914] Chr1:8330435 [GRCh38]
Chr1:8390495 [GRCh37]
Chr1:1p36.23		 benign
NM_001080397.3(SLC45A1):c.1507G>T (p.Ala503Ser) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV001807835]|SLC45A1-related condition [RCV003976205] Chr1:8335500 [GRCh38]
Chr1:8395560 [GRCh37]
Chr1:1p36.23		 benign
GRCh37/hg19 1p36.23(chr1:8074624-8505419) copy number gain not specified [RCV002053391] Chr1:8074624..8505419 [GRCh37]
Chr1:1p36.23		 uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13		 pathogenic
NC_000001.10:g.(?_6485016)_(12569078_?)del deletion not provided [RCV001940096] Chr1:6485016..12569078 [GRCh37]
Chr1:1p36.31-36.22		 uncertain significance
NC_000001.10:g.(?_7700440)_(8601397_?)dup duplication not provided [RCV003116550] Chr1:7700440..8601397 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.114C>A (p.His38Gln) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV002274492] Chr1:8324443 [GRCh38]
Chr1:8384503 [GRCh37]
Chr1:1p36.23		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804) copy number loss Chromosome 1p36 deletion syndrome, proximal [RCV002280717] Chr1:849466..10258804 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
NM_001080397.3(SLC45A1):c.1904T>C (p.Ile635Thr) single nucleotide variant Inborn genetic diseases [RCV003297882] Chr1:8339622 [GRCh38]
Chr1:8399682 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.2118C>T (p.Asn706=) single nucleotide variant not provided [RCV002292723] Chr1:8343884 [GRCh38]
Chr1:8403944 [GRCh37]
Chr1:1p36.23		 likely benign
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 copy number loss not provided [RCV002473951] Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 copy number loss not provided [RCV002474779] Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13		 pathogenic
NM_001080397.3(SLC45A1):c.1443+1G>A single nucleotide variant not provided [RCV002302626] Chr1:8330937 [GRCh38]
Chr1:8390997 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.26C>T (p.Pro9Leu) single nucleotide variant Inborn genetic diseases [RCV002907113] Chr1:8324355 [GRCh38]
Chr1:8384415 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.619G>C (p.Ala207Pro) single nucleotide variant Inborn genetic diseases [RCV002968757] Chr1:8325946 [GRCh38]
Chr1:8386006 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1878C>A (p.Asn626Lys) single nucleotide variant Inborn genetic diseases [RCV002779349] Chr1:8339596 [GRCh38]
Chr1:8399656 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.620C>T (p.Ala207Val) single nucleotide variant Inborn genetic diseases [RCV002968758] Chr1:8325947 [GRCh38]
Chr1:8386007 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.821C>T (p.Ala274Val) single nucleotide variant Inborn genetic diseases [RCV002758150] Chr1:8330314 [GRCh38]
Chr1:8390374 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.974G>A (p.Ser325Asn) single nucleotide variant Inborn genetic diseases [RCV002977152] Chr1:8330467 [GRCh38]
Chr1:8390527 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1147G>A (p.Gly383Ser) single nucleotide variant Inborn genetic diseases [RCV002887452] Chr1:8330640 [GRCh38]
Chr1:8390700 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1806C>A (p.Ser602Arg) single nucleotide variant Inborn genetic diseases [RCV002912004] Chr1:8339524 [GRCh38]
Chr1:8399584 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1238G>A (p.Arg413His) single nucleotide variant Inborn genetic diseases [RCV002998006] Chr1:8330731 [GRCh38]
Chr1:8390791 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1212C>A (p.Phe404Leu) single nucleotide variant Inborn genetic diseases [RCV002767642] Chr1:8330705 [GRCh38]
Chr1:8390765 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.2119G>A (p.Gly707Arg) single nucleotide variant Inborn genetic diseases [RCV002787365] Chr1:8343885 [GRCh38]
Chr1:8403945 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.2029A>G (p.Ile677Val) single nucleotide variant Inborn genetic diseases [RCV002891612] Chr1:8343795 [GRCh38]
Chr1:8403855 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1832A>G (p.Tyr611Cys) single nucleotide variant Inborn genetic diseases [RCV002764923] Chr1:8339550 [GRCh38]
Chr1:8399610 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.983C>T (p.Ser328Leu) single nucleotide variant Inborn genetic diseases [RCV002788631] Chr1:8330476 [GRCh38]
Chr1:8390536 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.355G>A (p.Asp119Asn) single nucleotide variant Inborn genetic diseases [RCV002984649] Chr1:8324684 [GRCh38]
Chr1:8384744 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.86C>T (p.Thr29Met) single nucleotide variant Inborn genetic diseases [RCV002960617] Chr1:8324415 [GRCh38]
Chr1:8384475 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.140A>C (p.Lys47Thr) single nucleotide variant Inborn genetic diseases [RCV002896676] Chr1:8324469 [GRCh38]
Chr1:8384529 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.2225G>A (p.Arg742Gln) single nucleotide variant Inborn genetic diseases [RCV002920181] Chr1:8343991 [GRCh38]
Chr1:8404051 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.2117A>G (p.Asn706Ser) single nucleotide variant Inborn genetic diseases [RCV002655872] Chr1:8343883 [GRCh38]
Chr1:8403943 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.589G>A (p.Val197Met) single nucleotide variant Inborn genetic diseases [RCV003255047] Chr1:8325916 [GRCh38]
Chr1:8385976 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1150G>A (p.Gly384Ser) single nucleotide variant Inborn genetic diseases [RCV003198631] Chr1:8330643 [GRCh38]
Chr1:8390703 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.857T>C (p.Val286Ala) single nucleotide variant Inborn genetic diseases [RCV003207989] Chr1:8330350 [GRCh38]
Chr1:8390410 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1792G>C (p.Glu598Gln) single nucleotide variant Inborn genetic diseases [RCV003194434] Chr1:8339510 [GRCh38]
Chr1:8399570 [GRCh37]
Chr1:1p36.23		 uncertain significance
NC_000001.10:g.4481271_20530242del deletion Chromosome 1p36 deletion syndrome [RCV003159574] Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NM_001080397.3(SLC45A1):c.347G>T (p.Gly116Val) single nucleotide variant Inborn genetic diseases [RCV003210238] Chr1:8324676 [GRCh38]
Chr1:8384736 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.437G>A (p.Arg146Gln) single nucleotide variant Inborn genetic diseases [RCV003349981] Chr1:8325337 [GRCh38]
Chr1:8385397 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1714G>A (p.Gly572Ser) single nucleotide variant Inborn genetic diseases [RCV003353926] Chr1:8337932 [GRCh38]
Chr1:8397992 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.626C>T (p.Ser209Leu) single nucleotide variant Inborn genetic diseases [RCV003368496] Chr1:8325953 [GRCh38]
Chr1:8386013 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1883A>G (p.Tyr628Cys) single nucleotide variant Inborn genetic diseases [RCV003347438] Chr1:8339601 [GRCh38]
Chr1:8399661 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.835G>A (p.Val279Ile) single nucleotide variant Inborn genetic diseases [RCV003366534] Chr1:8330328 [GRCh38]
Chr1:8390388 [GRCh37]
Chr1:1p36.23		 likely benign
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
NM_001080397.3(SLC45A1):c.180A>C (p.Pro60=) single nucleotide variant not provided [RCV003412748] Chr1:8324509 [GRCh38]
Chr1:8384569 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.201G>C (p.Pro67=) single nucleotide variant not provided [RCV003412749] Chr1:8324530 [GRCh38]
Chr1:8384590 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.249C>T (p.Ser83=) single nucleotide variant not provided [RCV003412750] Chr1:8324578 [GRCh38]
Chr1:8384638 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.393C>T (p.Ile131=) single nucleotide variant not provided [RCV003412751] Chr1:8324722 [GRCh38]
Chr1:8384782 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1125C>T (p.Ser375=) single nucleotide variant not provided [RCV003412752] Chr1:8330618 [GRCh38]
Chr1:8390678 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1389C>T (p.Ala463=) single nucleotide variant not provided [RCV003412753] Chr1:8330882 [GRCh38]
Chr1:8390942 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1416G>A (p.Arg472=) single nucleotide variant not provided [RCV003412754] Chr1:8330909 [GRCh38]
Chr1:8390969 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1491G>A (p.Thr497=) single nucleotide variant not provided [RCV003412755] Chr1:8335484 [GRCh38]
Chr1:8395544 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1509G>A (p.Ala503=) single nucleotide variant not provided [RCV003412756] Chr1:8335502 [GRCh38]
Chr1:8395562 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1911C>T (p.Tyr637=) single nucleotide variant not provided [RCV003412757] Chr1:8339629 [GRCh38]
Chr1:8399689 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1997C>T (p.Ala666Val) single nucleotide variant not provided [RCV003412758] Chr1:8343763 [GRCh38]
Chr1:8403823 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.2241C>T (p.Asn747=) single nucleotide variant not provided [RCV003412759] Chr1:8344007 [GRCh38]
Chr1:8404067 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.52G>A (p.Val18Met) single nucleotide variant SLC45A1-related condition [RCV003402623] Chr1:8324381 [GRCh38]
Chr1:8384441 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1019C>T (p.Pro340Leu) single nucleotide variant SLC45A1-related condition [RCV003410837] Chr1:8330512 [GRCh38]
Chr1:8390572 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.936G>A (p.Pro312=) single nucleotide variant SLC45A1-related condition [RCV003939698] Chr1:8330429 [GRCh38]
Chr1:8390489 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.741G>A (p.Val247=) single nucleotide variant SLC45A1-related condition [RCV003939444] Chr1:8330234 [GRCh38]
Chr1:8390294 [GRCh37]
Chr1:1p36.23		 likely benign
GRCh37/hg19 1p36.23(chr1:8403000-8480452)x3 copy number gain not specified [RCV003987039] Chr1:8403000..8480452 [GRCh37]
Chr1:1p36.23		 uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1 copy number loss not specified [RCV003986962] Chr1:849466..8966102 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1 copy number loss not specified [RCV003987128] Chr1:6330828..12910774 [GRCh37]
Chr1:1p36.31-36.21		 pathogenic
NM_001080397.3(SLC45A1):c.619G>A (p.Ala207Thr) single nucleotide variant SLC45A1-related condition [RCV003942138] Chr1:8325946 [GRCh38]
Chr1:8386006 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.-81C>T single nucleotide variant SLC45A1-related condition [RCV003922008] Chr1:8318130 [GRCh38]
Chr1:8378190 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.186G>C (p.Pro62=) single nucleotide variant SLC45A1-related condition [RCV003916841] Chr1:8324515 [GRCh38]
Chr1:8384575 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1774+6C>T single nucleotide variant SLC45A1-related condition [RCV003931610] Chr1:8337998 [GRCh38]
Chr1:8398058 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.2001C>T (p.Asp667=) single nucleotide variant not provided [RCV003886040] Chr1:8343767 [GRCh38]
Chr1:8403827 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.906C>T (p.Ala302=) single nucleotide variant SLC45A1-related condition [RCV003912204] Chr1:8330399 [GRCh38]
Chr1:8390459 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1444-9del deletion SLC45A1-related condition [RCV003912246] Chr1:8335428 [GRCh38]
Chr1:8395488 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.9C>T (p.Pro3=) single nucleotide variant SLC45A1-related condition [RCV003957316] Chr1:8324338 [GRCh38]
Chr1:8384398 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.1695G>C (p.Ala565=) single nucleotide variant not provided [RCV003885609] Chr1:8337913 [GRCh38]
Chr1:8397973 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.177C>T (p.Ser59=) single nucleotide variant SLC45A1-related condition [RCV003976761] Chr1:8324506 [GRCh38]
Chr1:8384566 [GRCh37]
Chr1:1p36.23		 likely benign
NM_001080397.3(SLC45A1):c.373G>A (p.Val125Met) single nucleotide variant Inborn genetic diseases [RCV003208442] Chr1:8324702 [GRCh38]
Chr1:8384762 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1396G>A (p.Gly466Arg) single nucleotide variant Inborn genetic diseases [RCV003356960] Chr1:8330889 [GRCh38]
Chr1:8390949 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_001080397.3(SLC45A1):c.1335G>A (p.Pro445=) single nucleotide variant Intellectual developmental disorder with neuropsychiatric features [RCV003341581] Chr1:8330828 [GRCh38]
Chr1:8390888 [GRCh37]
Chr1:1p36.23		 benign
NM_001080397.3(SLC45A1):c.1425T>A (p.Asn475Lys) single nucleotide variant Inborn genetic diseases [RCV003358543] Chr1:8330918 [GRCh38]
Chr1:8390978 [GRCh37]
Chr1:1p36.23		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1 copy number loss not provided [RCV003482961] Chr1:849467..9627901 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1215
Count of miRNA genes:529
Interacting mature miRNAs:598
Transcripts:ENST00000289877, ENST00000377479, ENST00000471889, ENST00000481265, ENST00000497660
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-82023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718,301,655 - 8,301,982UniSTSGRCh37
Build 3618,224,242 - 8,224,569RGDNCBI36
Celera17,408,850 - 7,409,177RGD
Cytogenetic Map1p36.23UniSTS
HuRef17,448,967 - 7,449,294UniSTS
TNG Radiation Hybrid Map13807.0UniSTS
SHGC-111898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718,354,478 - 8,354,783UniSTSGRCh37
Build 3618,277,065 - 8,277,370RGDNCBI36
Celera17,462,387 - 7,462,692RGD
Cytogenetic Map1p36.23UniSTS
HuRef17,502,030 - 7,502,335UniSTS
TNG Radiation Hybrid Map13838.0UniSTS
DNB5__4762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718,403,639 - 8,404,194UniSTSGRCh37
Build 3618,326,226 - 8,326,781RGDNCBI36
Celera17,511,419 - 7,511,974RGD
HuRef17,551,915 - 7,552,470UniSTS
RH36035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718,404,004 - 8,404,219UniSTSGRCh37
Build 3618,326,591 - 8,326,806RGDNCBI36
Celera17,511,784 - 7,511,999RGD
Cytogenetic Map1p36.23UniSTS
HuRef17,552,280 - 7,552,495UniSTS
GeneMap99-GB4 RH Map132.83UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 679 679 271 2 12 2 566 543 2006 20 304 10 9 554
Low 1654 1645 1117 295 654 134 3674 1575 1712 345 1090 1515 166 1 1195 2185 1 1
Below cutoff 77 643 319 313 943 316 94 68 12 46 49 68 8 49 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001080397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF118274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU527858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY798065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY013542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY328991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000289877   ⟹   ENSP00000289877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl18,324,330 - 8,344,167 (+)Ensembl
RefSeq Acc Id: ENST00000471889   ⟹   ENSP00000418096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl18,318,114 - 8,344,165 (+)Ensembl
RefSeq Acc Id: ENST00000481265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl18,330,428 - 8,336,109 (+)Ensembl
RefSeq Acc Id: ENST00000497660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl18,330,138 - 8,344,157 (+)Ensembl
RefSeq Acc Id: NM_001080397   ⟹   NP_001073866
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,318,114 - 8,344,165 (+)NCBI
GRCh3718,378,171 - 8,404,227 (+)NCBI
Build 3618,306,977 - 8,326,814 (+)NCBI Archive
Celera17,492,236 - 7,512,007 (+)RGD
HuRef17,532,573 - 7,552,503 (+)RGD
CHM1_118,367,123 - 8,393,233 (+)NCBI
T2T-CHM13v2.017,849,807 - 7,876,669 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379614   ⟹   NP_001366543
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,318,114 - 8,344,165 (+)NCBI
T2T-CHM13v2.017,849,807 - 7,876,669 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379615   ⟹   NP_001366544
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,318,114 - 8,344,165 (+)NCBI
T2T-CHM13v2.017,849,807 - 7,876,669 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379616   ⟹   NP_001366545
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,318,114 - 8,344,165 (+)NCBI
T2T-CHM13v2.017,849,807 - 7,876,669 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379617   ⟹   NP_001366546
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,318,114 - 8,344,165 (+)NCBI
T2T-CHM13v2.017,849,807 - 7,876,669 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379618   ⟹   NP_001366547
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,318,114 - 8,344,165 (+)NCBI
T2T-CHM13v2.017,849,807 - 7,876,669 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047421726   ⟹   XP_047277682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,324,693 - 8,344,165 (+)NCBI
RefSeq Acc Id: XM_054336833   ⟹   XP_054192808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.017,857,489 - 7,876,669 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001073866   ⟸   NM_001080397
- Peptide Label: isoform 2
- UniProtKB: Q9Y2W3 (UniProtKB/Swiss-Prot),   Q5VY49 (UniProtKB/Swiss-Prot),   Q5VY46 (UniProtKB/Swiss-Prot),   A0A0A0MT80 (UniProtKB/Swiss-Prot),   A0A2H2EQP0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001366543   ⟸   NM_001379614
- Peptide Label: isoform 1
- UniProtKB: Q9Y2W3 (UniProtKB/Swiss-Prot),   Q5VY49 (UniProtKB/Swiss-Prot),   Q5VY46 (UniProtKB/Swiss-Prot),   A0A0A0MT80 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001366544   ⟸   NM_001379615
- Peptide Label: isoform 3
- UniProtKB: Q9Y2W3 (UniProtKB/Swiss-Prot),   Q5VY49 (UniProtKB/Swiss-Prot),   Q5VY46 (UniProtKB/Swiss-Prot),   A0A0A0MT80 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001366545   ⟸   NM_001379616
- Peptide Label: isoform 4
- UniProtKB: Q9Y2W3 (UniProtKB/Swiss-Prot),   Q5VY49 (UniProtKB/Swiss-Prot),   Q5VY46 (UniProtKB/Swiss-Prot),   A0A0A0MT80 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001366546   ⟸   NM_001379617
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001366547   ⟸   NM_001379618
- Peptide Label: isoform 6
RefSeq Acc Id: ENSP00000418096   ⟸   ENST00000471889
RefSeq Acc Id: ENSP00000289877   ⟸   ENST00000289877
RefSeq Acc Id: XP_047277682   ⟸   XM_047421726
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054192808   ⟸   XM_054336833
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2W3-F1-model_v2 AlphaFold Q9Y2W3 1-782 view protein structure

Promoters
RGD ID:6786879
Promoter ID:HG_KWN:516
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000001245
Position:
Human AssemblyChrPosition (strand)Source
Build 3618,300,506 - 8,301,006 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17939 AgrOrtholog
COSMIC SLC45A1 COSMIC
Ensembl Genes ENSG00000162426 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000289877.8 UniProtKB/TrEMBL
  ENST00000471889 ENTREZGENE
  ENST00000471889.7 UniProtKB/Swiss-Prot
  ENST00000497660 ENTREZGENE
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000162426 GTEx
HGNC ID HGNC:17939 ENTREZGENE
Human Proteome Map SLC45A1 Human Proteome Map
InterPro MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:50651 UniProtKB/Swiss-Prot
NCBI Gene 50651 ENTREZGENE
OMIM 605763 OMIM
PANTHER PROTON-ASSOCIATED SUGAR TRANSPORTER A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUGAR TRANSPORTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MFS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134982862 PharmGKB
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MT80 ENTREZGENE
  A0A2H2EQP0 ENTREZGENE, UniProtKB/TrEMBL
  Q5VY46 ENTREZGENE
  Q5VY49 ENTREZGENE
  Q9Y2W3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0A0A0MT80 UniProtKB/Swiss-Prot
  Q5VY46 UniProtKB/Swiss-Prot
  Q5VY49 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 SLC45A1  solute carrier family 45 member 1    solute carrier family 45, member 1  Symbol and/or name change 5135510 APPROVED