SLC3A1 (solute carrier family 3 member 1) - Rat Genome Database

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Gene: SLC3A1 (solute carrier family 3 member 1) Homo sapiens
Analyze
Symbol: SLC3A1
Name: solute carrier family 3 member 1
RGD ID: 1345624
HGNC Page HGNC
Description: Predicted to have protein heterodimerization activity. Predicted to be involved in L-glutamate transmembrane transport; aspartate transmembrane transport; and gene expression. Localizes to brush border membrane. Implicated in cystinuria.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: amino acid transporter 1; ATR1; B(0,+)-type amino acid transport protein; CSNU1; D2H; FLJ34681; NBAT; neutral and basic amino acid transport protein rBAT; RBAT; SLC3A1 variant B; SLC3A1 variant C; SLC3A1 variant D; SLC3A1 variant E; SLC3A1 variant F; SLC3A1 variant G; solute carrier family 3 (amino acid transporter heavy chain), member 1; solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1; solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), 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
GRCh38.p13 Ensembl244,275,458 - 44,321,494 (+)EnsemblGRCh38hg38GRCh38
GRCh38244,275,464 - 44,321,494 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37244,502,619 - 44,548,633 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36244,356,103 - 44,401,448 (+)NCBINCBI36hg18NCBI36
Build 34244,414,249 - 44,459,588NCBI
Celera244,341,552 - 44,386,916 (+)NCBI
Cytogenetic Map2p21NCBI
HuRef244,239,242 - 44,284,624 (+)NCBIHuRef
CHM1_1244,430,299 - 44,475,664 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7539209   PMID:7568194   PMID:7573036   PMID:7575432   PMID:7686906   PMID:7789946   PMID:8125298   PMID:8486766   PMID:8663184   PMID:9186880   PMID:10574970   PMID:10588648  
PMID:10799513   PMID:11318953   PMID:11458794   PMID:11748844   PMID:12060600   PMID:12167606   PMID:12234283   PMID:12239244   PMID:12372889   PMID:12477932   PMID:12820697   PMID:14531788  
PMID:14561219   PMID:14702039   PMID:14991253   PMID:15489334   PMID:15635077   PMID:15691362   PMID:15815621   PMID:15818800   PMID:15818801   PMID:15818802   PMID:15913950   PMID:16138908  
PMID:16358225   PMID:17010017   PMID:18195088   PMID:18234729   PMID:18332091   PMID:18752446   PMID:18778962   PMID:19056867   PMID:19782624   PMID:20146678   PMID:20800603   PMID:21255007  
PMID:21873635   PMID:22796000   PMID:23376485   PMID:23794250   PMID:24045899   PMID:24449952   PMID:24824759   PMID:25964309   PMID:26123750   PMID:26537754   PMID:26540609   PMID:26837681  
PMID:26871637   PMID:28065597   PMID:28166740   PMID:28382174   PMID:28646536   PMID:28689648   PMID:28812535   PMID:30069816   PMID:30146843   PMID:32817565  


Genomics

Comparative Map Data
SLC3A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl244,275,458 - 44,321,494 (+)EnsemblGRCh38hg38GRCh38
GRCh38244,275,464 - 44,321,494 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37244,502,619 - 44,548,633 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36244,356,103 - 44,401,448 (+)NCBINCBI36hg18NCBI36
Build 34244,414,249 - 44,459,588NCBI
Celera244,341,552 - 44,386,916 (+)NCBI
Cytogenetic Map2p21NCBI
HuRef244,239,242 - 44,284,624 (+)NCBIHuRef
CHM1_1244,430,299 - 44,475,664 (+)NCBICHM1_1
Slc3a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391785,335,775 - 85,371,669 (+)NCBIGRCm39mm39
GRCm39 Ensembl1785,335,804 - 85,371,664 (+)Ensembl
GRCm381785,028,347 - 85,064,241 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1785,028,376 - 85,064,236 (+)EnsemblGRCm38mm10GRCm38
MGSCv371785,427,687 - 85,463,581 (+)NCBIGRCm37mm9NCBIm37
MGSCv361784,936,718 - 84,983,241 (+)NCBImm8
Celera1789,390,574 - 89,425,929 (+)NCBICelera
Cytogenetic Map17E4NCBI
cM Map1755.17NCBI
Slc3a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.269,608,169 - 9,641,881 (-)NCBI
Rnor_6.0 Ensembl68,284,878 - 8,318,674 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.068,284,937 - 8,318,649 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.068,217,549 - 8,251,133 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.468,385,186 - 8,419,465 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.168,385,185 - 8,419,461 (+)NCBI
Celera69,332,403 - 9,366,072 (-)NCBICelera
Cytogenetic Map6q12NCBI
Slc3a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544111,381,441 - 11,418,025 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544111,381,390 - 11,418,193 (+)NCBIChiLan1.0ChiLan1.0
SLC3A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A45,307,885 - 45,356,055 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A45,307,885 - 45,355,386 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A44,371,328 - 44,419,611 (+)NCBIMhudiblu_PPA_v0panPan3
SLC3A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11046,690,555 - 46,737,417 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1046,685,137 - 46,737,147 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1046,562,101 - 46,597,364 (+)NCBI
ROS_Cfam_1.01047,580,243 - 47,618,780 (+)NCBI
UMICH_Zoey_3.11047,287,361 - 47,322,625 (+)NCBI
UNSW_CanFamBas_1.01047,578,444 - 47,613,677 (+)NCBI
UU_Cfam_GSD_1.01047,760,850 - 47,796,315 (+)NCBI
Slc3a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629236,243,175 - 36,276,008 (-)NCBI
SpeTri2.0NW_0049365087,672,274 - 7,703,962 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC3A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl396,157,380 - 96,215,454 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1396,157,387 - 96,201,057 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23102,312,692 - 102,371,561 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC3A1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11462,924,906 - 62,971,268 (-)NCBI
ChlSab1.1 Ensembl1462,925,443 - 62,971,252 (-)Ensembl
Slc3a1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473825,762,064 - 25,802,407 (+)NCBI

Position Markers
D2S2562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,547,798 - 44,547,929UniSTSGRCh37
Build 36244,401,302 - 44,401,433RGDNCBI36
Celera244,386,751 - 44,386,882RGD
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map2p21UniSTS
HuRef244,284,459 - 44,284,590UniSTS
TNG Radiation Hybrid Map232031.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
GeneMap99-G3 RH Map21832.0UniSTS
RH94171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,544,880 - 44,544,968UniSTSGRCh37
Build 36244,398,384 - 44,398,472RGDNCBI36
Celera244,383,834 - 44,383,922RGD
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map2p21UniSTS
HuRef244,281,541 - 44,281,629UniSTS
GeneMap99-GB4 RH Map2134.49UniSTS
G62856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,504,782 - 44,505,128UniSTSGRCh37
Build 36244,358,286 - 44,358,632RGDNCBI36
Celera244,343,737 - 44,344,083RGD
Cytogenetic Map2p16.3UniSTS
HuRef244,241,431 - 44,241,777UniSTS
TNG Radiation Hybrid Map232076.0UniSTS
GDB:335819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,539,757 - 44,541,014UniSTSGRCh37
Build 36244,393,261 - 44,394,518RGDNCBI36
Celera244,378,711 - 44,379,968RGD
Cytogenetic Map2p16.3UniSTS
HuRef244,276,413 - 44,277,670UniSTS
GDB:681418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,502,643 - 44,502,809UniSTSGRCh37
Build 36244,356,147 - 44,356,313RGDNCBI36
Celera244,341,598 - 44,341,764RGD
Cytogenetic Map2p16.3UniSTS
HuRef244,239,288 - 44,239,454UniSTS
GDB:681433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,502,643 - 44,503,087UniSTSGRCh37
Build 36244,356,147 - 44,356,591RGDNCBI36
Celera244,341,598 - 44,342,042RGD
Cytogenetic Map2p16.3UniSTS
HuRef244,239,288 - 44,239,732UniSTS
GDB:681454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,539,767 - 44,539,864UniSTSGRCh37
Build 36244,393,271 - 44,393,368RGDNCBI36
Celera244,378,721 - 44,378,818RGD
Cytogenetic Map2p16.3UniSTS
HuRef244,276,423 - 44,276,520UniSTS
GDB:681472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,547,448 - 44,547,598UniSTSGRCh37
Build 36244,400,952 - 44,401,102RGDNCBI36
Celera244,386,401 - 44,386,551RGD
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map2p21UniSTS
HuRef244,284,109 - 44,284,259UniSTS
GDB:681483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,547,763 - 44,547,932UniSTSGRCh37
Build 36244,401,267 - 44,401,436RGDNCBI36
Celera244,386,716 - 44,386,885RGD
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map2p21UniSTS
HuRef244,284,424 - 44,284,593UniSTS
RH12757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,546,918 - 44,547,053UniSTSGRCh37
Build 36244,400,422 - 44,400,557RGDNCBI36
Celera244,385,871 - 44,386,006RGD
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map2p21UniSTS
HuRef244,283,579 - 44,283,714UniSTS
GeneMap99-GB4 RH Map2140.81UniSTS
NCBI RH Map2291.6UniSTS
RH19832  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,547,976 - 44,548,121UniSTSGRCh37
Build 36244,401,480 - 44,401,625RGDNCBI36
Celera244,386,929 - 44,387,074RGD
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map2p21UniSTS
HuRef244,284,637 - 44,284,782UniSTS
Whitehead-RH Map2198.6UniSTS
NCBI RH Map2291.6UniSTS
RH69205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,547,562 - 44,547,731UniSTSGRCh37
Build 36244,401,066 - 44,401,235RGDNCBI36
Celera244,386,515 - 44,386,684RGD
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map2p21UniSTS
HuRef244,284,223 - 44,284,392UniSTS
GeneMap99-GB4 RH Map2132.48UniSTS
NCBI RH Map2291.6UniSTS
D2S2947  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p16.3UniSTS
D2S2945  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p16.3UniSTS
D2S2946  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p16.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1635
Count of miRNA genes:850
Interacting mature miRNAs:978
Transcripts:ENST00000260649, ENST00000409229, ENST00000409294, ENST00000409380, ENST00000409387, ENST00000409740, ENST00000409741, ENST00000410056, ENST00000427285
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 215 31 31 97 33 275 25 2
Low 461 163 268 248 161 248 482 31 760 65 523 72 67 388
Below cutoff 1749 2733 1389 321 1382 167 3821 2124 2944 65 887 1477 164 1121 2391 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB033549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ023512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ023513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ023514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ023515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ023516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ023517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L11696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M95548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000260649   ⟹   ENSP00000260649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl244,275,480 - 44,321,494 (+)Ensembl
RefSeq Acc Id: ENST00000409229   ⟹   ENSP00000386620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl244,275,536 - 44,315,243 (+)Ensembl
RefSeq Acc Id: ENST00000409294   ⟹   ENSP00000386852
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl244,300,027 - 44,314,198 (+)Ensembl
RefSeq Acc Id: ENST00000409380   ⟹   ENSP00000386709
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl244,285,083 - 44,320,821 (+)Ensembl
RefSeq Acc Id: ENST00000409387   ⟹   ENSP00000387308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl244,275,464 - 44,318,762 (+)Ensembl
RefSeq Acc Id: ENST00000409740   ⟹   ENSP00000386677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl244,303,806 - 44,320,798 (+)Ensembl
RefSeq Acc Id: ENST00000409741   ⟹   ENSP00000386954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl244,275,536 - 44,312,790 (+)Ensembl
RefSeq Acc Id: ENST00000410056   ⟹   ENSP00000387337
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl244,275,536 - 44,301,417 (+)Ensembl
RefSeq Acc Id: ENST00000427285   ⟹   ENSP00000391642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl244,285,495 - 44,301,086 (+)Ensembl
RefSeq Acc Id: ENST00000611973   ⟹   ENSP00000483618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl244,275,458 - 44,318,155 (+)Ensembl
RefSeq Acc Id: NM_000341   ⟹   NP_000332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38244,275,480 - 44,321,494 (+)NCBI
GRCh37244,502,597 - 44,547,963 (+)ENTREZGENE
Build 36244,356,103 - 44,401,448 (+)NCBI Archive
HuRef244,239,242 - 44,284,624 (+)ENTREZGENE
CHM1_1244,430,299 - 44,475,664 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533047   ⟹   XP_011531349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38244,275,464 - 44,320,824 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000332   ⟸   NM_000341
- UniProtKB: Q07837 (UniProtKB/Swiss-Prot),   A0A0S2Z4E1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531349   ⟸   XM_011533047
- Peptide Label: isoform X1
- UniProtKB: B8ZZK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000387337   ⟸   ENST00000410056
RefSeq Acc Id: ENSP00000391642   ⟸   ENST00000427285
RefSeq Acc Id: ENSP00000483618   ⟸   ENST00000611973
RefSeq Acc Id: ENSP00000260649   ⟸   ENST00000260649
RefSeq Acc Id: ENSP00000386677   ⟸   ENST00000409740
RefSeq Acc Id: ENSP00000386954   ⟸   ENST00000409741
RefSeq Acc Id: ENSP00000386709   ⟸   ENST00000409380
RefSeq Acc Id: ENSP00000387308   ⟸   ENST00000409387
RefSeq Acc Id: ENSP00000386620   ⟸   ENST00000409229
RefSeq Acc Id: ENSP00000386852   ⟸   ENST00000409294
Protein Domains
Aamy

Promoters
RGD ID:6860206
Promoter ID:EPDNEW_H3268
Type:initiation region
Name:SLC3A1_1
Description:solute carrier family 3 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3267  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38244,275,480 - 44,275,540EPDNEW
RGD ID:6798184
Promoter ID:HG_KWN:32466
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002RUE.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36244,384,666 - 44,385,166 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000341.4(SLC3A1):c.1597T>A (p.Tyr533Asn) single nucleotide variant Cystinuria [RCV000030727] Chr2:44313931 [GRCh38]
Chr2:44541070 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) single nucleotide variant Cystinuria [RCV000019743]|not provided [RCV000413736] Chr2:44312653 [GRCh38]
Chr2:44539792 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) single nucleotide variant Cystinuria [RCV000019744] Chr2:44312653 [GRCh38]
Chr2:44539792 [GRCh37]
Chr2:2p21
pathogenic|conflicting interpretations of pathogenicity
NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro) single nucleotide variant Cystinuria [RCV000019745] Chr2:44320614 [GRCh38]
Chr2:44547753 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.542G>A (p.Arg181Gln) single nucleotide variant Cystinuria [RCV000019746] Chr2:44280827 [GRCh38]
Chr2:44507966 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1955C>G (p.Thr652Arg) single nucleotide variant Cystinuria [RCV000019747] Chr2:44320536 [GRCh38]
Chr2:44547675 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1843C>A (p.Pro615Thr) single nucleotide variant Cystinuria [RCV000019748]|not specified [RCV001170048] Chr2:44320424 [GRCh38]
Chr2:44547563 [GRCh37]
Chr2:2p21
pathogenic|uncertain significance
SLC3A1, EX5-9DUP duplication Cystinuria [RCV000019749] Chr2:2p16.3 pathogenic
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His) single nucleotide variant Cystinuria [RCV000019750] Chr2:44301076 [GRCh38]
Chr2:44528215 [GRCh37]
Chr2:2p21
pathogenic|uncertain significance
NM_000341.4(SLC3A1):c.918G>T (p.Lys306Asn) single nucleotide variant not provided [RCV000722939] Chr2:44299997 [GRCh38]
Chr2:44527136 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.334C>T (p.Pro112Ser) single nucleotide variant not provided [RCV000722393] Chr2:44275869 [GRCh38]
Chr2:44503008 [GRCh37]
Chr2:2p21
uncertain significance
GRCh38/hg38 2p21(chr2:44286091-44372899)x1 copy number loss See cases [RCV000052119] Chr2:44286091..44372899 [GRCh38]
Chr2:44513230..44600038 [GRCh37]
Chr2:44366734..44453542 [NCBI36]
Chr2:2p21
uncertain significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|See cases [RCV000052942] Chr2:32849247..45016061 [GRCh38]
Chr2:33074314..45243200 [GRCh37]
Chr2:32927818..45096704 [NCBI36]
Chr2:2p22.3-21
pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
NM_000341.3(SLC3A1):c.1921G>A (p.Asp641Asn) single nucleotide variant Malignant melanoma [RCV000065604] Chr2:44320502 [GRCh38]
Chr2:44547641 [GRCh37]
Chr2:44401145 [NCBI36]
Chr2:2p21
not provided
GRCh37/hg19 2p21(chr2:44519680-44543829)x3 copy number gain not specified [RCV000234899] Chr2:44519680..44543829 [GRCh37]
Chr2:2p21
uncertain significance
GRCh38/hg38 2p21(chr2:44303991-44325759)x1 copy number loss See cases [RCV000135324] Chr2:44303991..44325759 [GRCh38]
Chr2:44531130..44552898 [GRCh37]
Chr2:44384634..44406402 [NCBI36]
Chr2:2p21
pathogenic
GRCh38/hg38 2p21(chr2:43762375-44960289)x3 copy number gain See cases [RCV000135631] Chr2:43762375..44960289 [GRCh38]
Chr2:43989514..45187428 [GRCh37]
Chr2:43843018..45040932 [NCBI36]
Chr2:2p21
pathogenic|uncertain significance
GRCh38/hg38 2p21(chr2:43676810-45016061)x3 copy number gain See cases [RCV000137089] Chr2:43676810..45016061 [GRCh38]
Chr2:43903949..45243200 [GRCh37]
Chr2:43757453..45096704 [NCBI36]
Chr2:2p21
uncertain significance
GRCh38/hg38 2p21(chr2:44291298-44315779)x3 copy number gain See cases [RCV000138977] Chr2:44291298..44315779 [GRCh38]
Chr2:44518437..44542918 [GRCh37]
Chr2:44371941..44396422 [NCBI36]
Chr2:2p21
likely benign
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p21(chr2:44283642-44298735)x1 copy number loss See cases [RCV000141520] Chr2:44283642..44298735 [GRCh38]
Chr2:44510781..44525874 [GRCh37]
Chr2:44364285..44379378 [NCBI36]
Chr2:2p21
benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
GRCh38/hg38 2p21(chr2:44307367-44316296)x0 copy number loss See cases [RCV000143633] Chr2:44307367..44316296 [GRCh38]
Chr2:44534506..44543435 [GRCh37]
Chr2:44388010..44396939 [NCBI36]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile) single nucleotide variant Cystinuria [RCV000261712] Chr2:44320435 [GRCh38]
Chr2:44547574 [GRCh37]
Chr2:2p21
benign
NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs) duplication Cystinuria [RCV000192842] Chr2:44304280..44304281 [GRCh38]
Chr2:44531419..44531420 [GRCh37]
Chr2:2p21
likely pathogenic
NM_000341.4(SLC3A1):c.50G>C (p.Gly17Ala) single nucleotide variant not provided [RCV000756650] Chr2:44275585 [GRCh38]
Chr2:44502724 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=) single nucleotide variant Cystinuria [RCV000285583] Chr2:44304275 [GRCh38]
Chr2:44531414 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.*131T>C single nucleotide variant Cystinuria [RCV000286287] Chr2:44320770 [GRCh38]
Chr2:44547909 [GRCh37]
Chr2:2p21
benign
NM_000341.4(SLC3A1):c.1137-3T>C single nucleotide variant Cystinuria [RCV000279645]|not provided [RCV000983874] Chr2:44304140 [GRCh38]
Chr2:44531279 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=) single nucleotide variant Cystinuria [RCV000274787] Chr2:44320348 [GRCh38]
Chr2:44547487 [GRCh37]
Chr2:2p21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000341.4(SLC3A1):c.395A>G (p.Lys132Arg) single nucleotide variant Cystinuria [RCV000266142] Chr2:44275930 [GRCh38]
Chr2:44503069 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr) single nucleotide variant Cystinuria [RCV000277152] Chr2:44286054 [GRCh38]
Chr2:44513193 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1136+3del deletion Cystinuria [RCV000374131]|not specified [RCV000455732] Chr2:44301129 [GRCh38]
Chr2:44528268 [GRCh37]
Chr2:2p21
benign|likely benign
NM_000341.4(SLC3A1):c.24A>C (p.Arg8Ser) single nucleotide variant Cystinuria [RCV000300293] Chr2:44275559 [GRCh38]
Chr2:44502698 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=) single nucleotide variant Cystinuria [RCV000314915] Chr2:44320298 [GRCh38]
Chr2:44547437 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His) single nucleotide variant Cystinuria [RCV000316994] Chr2:44320554 [GRCh38]
Chr2:44547693 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.114A>C (p.Gly38=) single nucleotide variant Cystinuria [RCV000336500] Chr2:44275649 [GRCh38]
Chr2:44502788 [GRCh37]
Chr2:2p21
benign
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=) single nucleotide variant Cystinuria [RCV000302526]|not provided [RCV000960636] Chr2:44275952 [GRCh38]
Chr2:44503091 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) single nucleotide variant Cystinuria [RCV000402894] Chr2:44312607 [GRCh38]
Chr2:44539746 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
NM_000341.4(SLC3A1):c.1258T>G (p.Ser420Ala) single nucleotide variant Cystinuria [RCV000403183] Chr2:44304264 [GRCh38]
Chr2:44531403 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1074C>T (p.His358=) single nucleotide variant Cystinuria [RCV000338143] Chr2:44301065 [GRCh38]
Chr2:44528204 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.685C>T (p.Arg229Trp) single nucleotide variant Cystinuria [RCV000380957] Chr2:44281461 [GRCh38]
Chr2:44508600 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.184G>A (p.Val62Ile) single nucleotide variant Cystinuria [RCV000306048] Chr2:44275719 [GRCh38]
Chr2:44502858 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1332+7C>T single nucleotide variant Cystinuria [RCV000340572] Chr2:44304345 [GRCh38]
Chr2:44531484 [GRCh37]
Chr2:2p21
benign
NM_000341.4(SLC3A1):c.303C>T (p.Ile101=) single nucleotide variant Cystinuria [RCV000360830] Chr2:44275838 [GRCh38]
Chr2:44502977 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1012G>C (p.Asp338His) single nucleotide variant Cystinuria [RCV000292340] Chr2:44301003 [GRCh38]
Chr2:44528142 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.892-6C>G single nucleotide variant Cystinuria [RCV000386636] Chr2:44299965 [GRCh38]
Chr2:44527104 [GRCh37]
Chr2:2p21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000341.4(SLC3A1):c.1510C>T (p.Arg504Cys) single nucleotide variant Cystinuria [RCV000363780]|not provided [RCV000756651] Chr2:44313844 [GRCh38]
Chr2:44540983 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.572A>G (p.Glu191Gly) single nucleotide variant Cystinuria [RCV000326268] Chr2:44280857 [GRCh38]
Chr2:44507996 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.460G>T (p.Ala154Ser) single nucleotide variant Cystinuria [RCV000365790] Chr2:44280745 [GRCh38]
Chr2:44507884 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1810C>T (p.Leu604=) single nucleotide variant Cystinuria [RCV000330023] Chr2:44320391 [GRCh38]
Chr2:44547530 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) single nucleotide variant Cystinuria [RCV000332132] Chr2:44286074 [GRCh38]
Chr2:44513213 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1500+1G>T single nucleotide variant Cystinuria [RCV001037564]|not provided [RCV000273419] Chr2:44312754 [GRCh38]
Chr2:44539893 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.478G>C (p.Val160Leu) single nucleotide variant Cystinuria [RCV000271200] Chr2:44280763 [GRCh38]
Chr2:44507902 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1381T>C (p.Tyr461His) single nucleotide variant Cystinuria [RCV001048270]|not provided [RCV000319754] Chr2:44312634 [GRCh38]
Chr2:44539773 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr) single nucleotide variant Cystinuria [RCV000490522] Chr2:44312587 [GRCh38]
Chr2:44539726 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.194A>G (p.Tyr65Cys) single nucleotide variant not provided [RCV000722485] Chr2:44275729 [GRCh38]
Chr2:44502868 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=) single nucleotide variant Cystinuria [RCV000334646] Chr2:44304206 [GRCh38]
Chr2:44531345 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.3(SLC3A1):c.-65C>T single nucleotide variant Cystinuria [RCV000404757] Chr2:44275471 [GRCh38]
Chr2:44502610 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.166G>A (p.Glu56Lys) single nucleotide variant Cystinuria [RCV000404471] Chr2:44275701 [GRCh38]
Chr2:44502840 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1742T>G (p.Val581Gly) single nucleotide variant Cystinuria [RCV000369497] Chr2:44320323 [GRCh38]
Chr2:44547462 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1495G>T (p.Asp499Tyr) single nucleotide variant Cystinuria [RCV000309116] Chr2:44312748 [GRCh38]
Chr2:44539887 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.*100T>C single nucleotide variant Cystinuria [RCV000371656] Chr2:44320739 [GRCh38]
Chr2:44547878 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1854_1859del (p.Met618_Arg619del) deletion Cystinuria [RCV000356718] Chr2:44320432..44320437 [GRCh38]
Chr2:44547571..44547576 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1626G>T (p.Lys542Asn) single nucleotide variant Cystinuria [RCV000395912] Chr2:44320207 [GRCh38]
Chr2:44547346 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.163del (p.Gln55fs) deletion Cystinuria [RCV001234999]|not provided [RCV000597459] Chr2:44275696 [GRCh38]
Chr2:44502835 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1494T>C (p.Tyr498=) single nucleotide variant Cystinuria [RCV001138417] Chr2:44312747 [GRCh38]
Chr2:44539886 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:44505901-44581463)x1 copy number loss See cases [RCV000449359] Chr2:44505901..44581463 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p21(chr2:44506739-44581463)x1 copy number loss See cases [RCV000446252] Chr2:44506739..44581463 [GRCh37]
Chr2:2p21
likely benign
GRCh37/hg19 2p21(chr2:44506991-44581463)x1 copy number loss See cases [RCV000446767] Chr2:44506991..44581463 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) deletion Cystinuria [RCV000416445] Chr2:44320330 [GRCh38]
Chr2:44547469 [GRCh37]
Chr2:2p21
likely pathogenic
GRCh37/hg19 2p21(chr2:44412982-44610238)x1 copy number loss See cases [RCV000448532] Chr2:44412982..44610238 [GRCh37]
Chr2:2p21
likely benign
GRCh37/hg19 2p21(chr2:44490162-44600338)x1 copy number loss See cases [RCV000448422] Chr2:44490162..44600338 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:44466152-44606407)x1 copy number loss See cases [RCV000448238] Chr2:44466152..44606407 [GRCh37]
Chr2:2p21
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000341.4(SLC3A1):c.1069_1084dup (p.Arg362fs) duplication Cystinuria [RCV000497086] Chr2:44301059..44301060 [GRCh38]
Chr2:44528198..44528199 [GRCh37]
Chr2:2p21
pathogenic
NC_000002.11:g.38121110_47669522inv inversion Lynch syndrome [RCV000494356] Chr2:38121110..47669522 [GRCh37]
Chr2:2p22.2-21
pathogenic
GRCh37/hg19 2p21(chr2:43386188-45013725)x3 copy number gain See cases [RCV000511805] Chr2:43386188..45013725 [GRCh37]
Chr2:2p21
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NC_000002.12:g.(?_44280696)_(44346410_?)del deletion Cystinuria [RCV000630481] Chr2:44280696..44346410 [GRCh38]
Chr2:44507835..44573549 [GRCh37]
Chr2:2p21
likely pathogenic
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=) single nucleotide variant Cystinuria [RCV001000375] Chr2:44275766 [GRCh38]
Chr2:44502905 [GRCh37]
Chr2:2p21
benign|conflicting interpretations of pathogenicity
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) deletion Cystinuria [RCV001257095]|Nephrocalcinosis [RCV000662323] Chr2:44280877 [GRCh38]
Chr2:44508016 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
GRCh37/hg19 2p21(chr2:44506991-44581463)x1 copy number loss not provided [RCV000681989] Chr2:44506991..44581463 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
Single allele deletion Premature ovarian insufficiency [RCV000766145] Chr2:44277853..44353364 [GRCh38]
Chr2:44504991..44580502 [GRCh37]
Chr2:2p21
pathogenic
GRCh37/hg19 2p21(chr2:44412415-44621042)x1 copy number loss not provided [RCV000682031] Chr2:44412415..44621042 [GRCh37]
Chr2:2p21
uncertain significance
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
NM_000341.4(SLC3A1):c.766-1G>T single nucleotide variant not provided [RCV000681939] Chr2:44286031 [GRCh38]
Chr2:44513170 [GRCh37]
Chr2:2p21
likely pathogenic
NM_000341.4(SLC3A1):c.1701G>T (p.Arg567Ser) single nucleotide variant not provided [RCV000681751] Chr2:44320282 [GRCh38]
Chr2:44547421 [GRCh37]
Chr2:2p21
likely pathogenic
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln) single nucleotide variant Cystinuria [RCV001067849]|not provided [RCV000681750] Chr2:44301085 [GRCh38]
Chr2:44528224 [GRCh37]
Chr2:2p21
likely pathogenic|uncertain significance
NM_000341.4(SLC3A1):c.777T>G (p.Tyr259Ter) single nucleotide variant not provided [RCV000681767] Chr2:44286043 [GRCh38]
Chr2:44513182 [GRCh37]
Chr2:2p21
likely pathogenic
NM_000341.4(SLC3A1):c.430+2T>G single nucleotide variant Cystinuria [RCV000688389] Chr2:44275967 [GRCh38]
Chr2:44503106 [GRCh37]
Chr2:2p21
likely pathogenic
NC_000002.12:g.(?_44280716)_(44346390_?)del deletion Myasthenic syndrome, congenital, 22 [RCV000708527] Chr2:44280716..44346390 [GRCh38]
Chr2:44507855..44573529 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
GRCh37/hg19 2p21(chr2:44543435-44604017)x3 copy number gain not provided [RCV000845778] Chr2:44543435..44604017 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
GRCh37/hg19 2p21(chr2:44507213-44631592)x1 copy number loss not provided [RCV000740402] Chr2:44507213..44631592 [GRCh37]
Chr2:2p21
benign
GRCh37/hg19 2p21(chr2:44510808-44543671)x4 copy number gain not provided [RCV000740403] Chr2:44510808..44543671 [GRCh37]
Chr2:2p21
benign
GRCh37/hg19 2p21(chr2:44515068-44543671)x3 copy number gain not provided [RCV000740404] Chr2:44515068..44543671 [GRCh37]
Chr2:2p21
benign
NM_000341.4(SLC3A1):c.1474G>A (p.Ala492Thr) single nucleotide variant not provided [RCV000756652] Chr2:44312727 [GRCh38]
Chr2:44539866 [GRCh37]
Chr2:2p21
uncertain significance
NM_001171613.2(PREPL):c.1844A>G (p.Lys615Arg) single nucleotide variant Myasthenic syndrome, congenital, 22 [RCV001068453] Chr2:44321429 [GRCh38]
Chr2:44548568 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp) single nucleotide variant Cystinuria [RCV001140994]|not provided [RCV000904972] Chr2:44320470 [GRCh38]
Chr2:44547609 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_000341.4(SLC3A1):c.300C>T (p.Leu100=) single nucleotide variant Cystinuria [RCV000884172] Chr2:44275835 [GRCh38]
Chr2:44502974 [GRCh37]
Chr2:2p21
benign|conflicting interpretations of pathogenicity
NM_000341.4(SLC3A1):c.892-9C>T single nucleotide variant Cystinuria [RCV000922980] Chr2:44299962 [GRCh38]
Chr2:44527101 [GRCh37]
Chr2:2p21
likely benign
NM_000341.4(SLC3A1):c.891+8T>G single nucleotide variant not provided [RCV000943268] Chr2:44286165 [GRCh38]
Chr2:44513304 [GRCh37]
Chr2:2p21
likely benign
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=) single nucleotide variant Cystinuria [RCV000967670] Chr2:44312651 [GRCh38]
Chr2:44539790 [GRCh37]
Chr2:2p21
benign|conflicting interpretations of pathogenicity
NM_000341.4(SLC3A1):c.1572C>T (p.Asn524=) single nucleotide variant not provided [RCV000972534] Chr2:44313906 [GRCh38]
Chr2:44541045 [GRCh37]
Chr2:2p21
benign
NM_000341.4(SLC3A1):c.672A>G (p.Gln224=) single nucleotide variant Cystinuria [RCV000899542] Chr2:44281448 [GRCh38]
Chr2:44508587 [GRCh37]
Chr2:2p21
benign
NM_000341.4(SLC3A1):c.66C>T (p.Asn22=) single nucleotide variant Cystinuria [RCV000968928] Chr2:44275601 [GRCh38]
Chr2:44502740 [GRCh37]
Chr2:2p21
benign|conflicting interpretations of pathogenicity
NM_000341.4(SLC3A1):c.247C>T (p.Arg83Cys) single nucleotide variant Cystinuria [RCV001041913] Chr2:44275782 [GRCh38]
Chr2:44502921 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.*779C>T single nucleotide variant Myasthenic syndrome, congenital, 22 [RCV000541403]|not specified [RCV000502915] Chr2:44321418 [GRCh38]
Chr2:44548557 [GRCh37]
Chr2:2p21
benign|likely benign
NM_000341.4(SLC3A1):c.1881C>T (p.Ala627=) single nucleotide variant Cystinuria [RCV001140993]|not provided [RCV000922544] Chr2:44320462 [GRCh38]
Chr2:44547601 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_000341.4(SLC3A1):c.1641G>T (p.Ser547=) single nucleotide variant Cystinuria [RCV001138419]|not provided [RCV000923700] Chr2:44320222 [GRCh38]
Chr2:44547361 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=) single nucleotide variant Cystinuria [RCV000899454]|not provided [RCV001171945] Chr2:44312726 [GRCh38]
Chr2:44539865 [GRCh37]
Chr2:2p21
likely benign|conflicting interpretations of pathogenicity
NM_000341.4(SLC3A1):c.318C>T (p.Ala106=) single nucleotide variant not provided [RCV000982689] Chr2:44275853 [GRCh38]
Chr2:44502992 [GRCh37]
Chr2:2p21
likely benign
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser) single nucleotide variant Cystinuria [RCV000967785] Chr2:44301117 [GRCh38]
Chr2:44528256 [GRCh37]
Chr2:2p21
likely benign|conflicting interpretations of pathogenicity
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met) single nucleotide variant Cystinuria [RCV000880749] Chr2:44280851 [GRCh38]
Chr2:44507990 [GRCh37]
Chr2:2p21
likely benign|conflicting interpretations of pathogenicity
NM_000341.4(SLC3A1):c.1701G>A (p.Arg567=) single nucleotide variant not provided [RCV000883466] Chr2:44320282 [GRCh38]
Chr2:44547421 [GRCh37]
Chr2:2p21
likely benign
NM_000341.4(SLC3A1):c.1414C>T (p.Leu472Phe) single nucleotide variant Cystine urolithiasis [RCV000991109] Chr2:44312667 [GRCh38]
Chr2:44539806 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.2011C>T (p.Arg671Ter) single nucleotide variant Cystine urolithiasis [RCV000991105]|Cystinuria [RCV001238859] Chr2:44320592 [GRCh38]
Chr2:44547731 [GRCh37]
Chr2:2p21
pathogenic|uncertain significance
NC_000002.11:g.(?_44527090)_(44541110_?)dup duplication Cystinuria [RCV000803275] Chr2:44299951..44313971 [GRCh38]
Chr2:44527090..44541110 [GRCh37]
Chr2:2p21
pathogenic
GRCh37/hg19 2p21(chr2:44546378-44590465)x1 copy number loss not provided [RCV000845939] Chr2:44546378..44590465 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:44507131-44571474)x1 copy number loss not provided [RCV000849046] Chr2:44507131..44571474 [GRCh37]
Chr2:2p21
pathogenic
NC_000002.12:g.(?_44321336)_(44346410_?)del deletion Myasthenic syndrome, congenital, 22 [RCV000708074] Chr2:44321336..44346410 [GRCh38]
Chr2:44548475..44573549 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.*806T>A single nucleotide variant Myasthenic syndrome, congenital, 22 [RCV000691385] Chr2:44321445 [GRCh38]
Chr2:44548584 [GRCh37]
Chr2:2p21
uncertain significance
NC_000002.12:g.(?_44321336)_(44359735_?)del deletion Myasthenic syndrome, congenital, 22 [RCV000537365] Chr2:44321336..44359735 [GRCh38]
Chr2:2p21
pathogenic|uncertain significance
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His) single nucleotide variant Cystinuria [RCV000798029] Chr2:44320325 [GRCh38]
Chr2:44547464 [GRCh37]
Chr2:2p21
likely pathogenic
NM_000341.4(SLC3A1):c.817T>C (p.Cys273Arg) single nucleotide variant Cystine urolithiasis [RCV000991116] Chr2:44286083 [GRCh38]
Chr2:44513222 [GRCh37]
Chr2:2p21
likely pathogenic
NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs) duplication Cystinuria [RCV000796237] Chr2:44320600..44320601 [GRCh38]
Chr2:44547739..44547740 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.*784A>G single nucleotide variant Myasthenic syndrome, congenital, 22 [RCV000697511] Chr2:44321423 [GRCh38]
Chr2:44548562 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser) single nucleotide variant Cystinuria [RCV000963261] Chr2:44286063 [GRCh38]
Chr2:44513202 [GRCh37]
Chr2:2p21
benign|conflicting interpretations of pathogenicity
GRCh37/hg19 2p21(chr2:44505901-44571649)x1 copy number loss not provided [RCV000846796] Chr2:44505901..44571649 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.508C>G (p.Leu170Val) single nucleotide variant Cystinuria [RCV001137888] Chr2:44280793 [GRCh38]
Chr2:44507932 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln) single nucleotide variant Cystinuria [RCV001137891] Chr2:44281456 [GRCh38]
Chr2:44508595 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1259C>G (p.Ser420Cys) single nucleotide variant Cystinuria [RCV001137997] Chr2:44304265 [GRCh38]
Chr2:44531404 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1383T>C (p.Tyr461=) single nucleotide variant Cystinuria [RCV001137999] Chr2:44312636 [GRCh38]
Chr2:44539775 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:44512970-44546016)x1 copy number loss not provided [RCV000847814] Chr2:44512970..44546016 [GRCh37]
Chr2:2p21
pathogenic
GRCh37/hg19 2p21(chr2:44514109-44545374)x3 copy number gain not provided [RCV000849099] Chr2:44514109..44545374 [GRCh37]
Chr2:2p21
pathogenic
GRCh37/hg19 2p21(chr2:44505901-44571474)x1 copy number loss not provided [RCV000847784] Chr2:44505901..44571474 [GRCh37]
Chr2:2p21
pathogenic
GRCh37/hg19 2p21(chr2:44507131-44571474)x1 copy number loss not provided [RCV000849808] Chr2:44507131..44571474 [GRCh37]
Chr2:2p21
pathogenic
GRCh37/hg19 2p21(chr2:44505901-44571649)x1 copy number loss not provided [RCV000849354] Chr2:44505901..44571649 [GRCh37]
Chr2:2p21
pathogenic
GRCh37/hg19 2p21(chr2:44479539-44552197)x1 copy number loss not provided [RCV000848501] Chr2:44479539..44552197 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1012-1G>A single nucleotide variant Cystine urolithiasis [RCV000991118] Chr2:44301002 [GRCh38]
Chr2:44528141 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu) single nucleotide variant Cystine urolithiasis [RCV000991124]|Cystinuria [RCV001313669] Chr2:44320221 [GRCh38]
Chr2:44547360 [GRCh37]
Chr2:2p21
pathogenic|uncertain significance
NM_000341.4(SLC3A1):c.322A>G (p.Ile108Val) single nucleotide variant Cystinuria [RCV001222465] Chr2:44275857 [GRCh38]
Chr2:44502996 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:44438045-44546016)x1 copy number loss not provided [RCV000845630] Chr2:44438045..44546016 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1113C>A (p.Tyr371Ter) single nucleotide variant Cystine urolithiasis [RCV000991110] Chr2:44301104 [GRCh38]
Chr2:44528243 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1332+2T>A single nucleotide variant Cystine urolithiasis [RCV000991122] Chr2:44304340 [GRCh38]
Chr2:44531479 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1326C>G (p.Asn442Lys) single nucleotide variant Cystine urolithiasis [RCV000991123] Chr2:44304332 [GRCh38]
Chr2:44531471 [GRCh37]
Chr2:2p21
likely pathogenic
NM_000341.4(SLC3A1):c.929G>A (p.Gly310Asp) single nucleotide variant Cystinuria [RCV001238858] Chr2:44300008 [GRCh38]
Chr2:44527147 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) single nucleotide variant Cystinuria [RCV001213233] Chr2:44281423 [GRCh38]
Chr2:44508562 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
GRCh37/hg19 2p21(chr2:44517331-44546016)x1 copy number loss not provided [RCV000845833] Chr2:44517331..44546016 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.298C>T (p.Leu100Phe) single nucleotide variant Cystinuria [RCV001142633] Chr2:44275833 [GRCh38]
Chr2:44502972 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.439G>C (p.Asp147His) single nucleotide variant Cystinuria [RCV001142635] Chr2:44280724 [GRCh38]
Chr2:44507863 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.-16C>T single nucleotide variant Cystinuria [RCV001140022] Chr2:44275520 [GRCh38]
Chr2:44502659 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.894A>G (p.Glu298=) single nucleotide variant Cystinuria [RCV001140138] Chr2:44299973 [GRCh38]
Chr2:44527112 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.201G>T (p.Gly67=) single nucleotide variant Cystinuria [RCV001140778] Chr2:44275736 [GRCh38]
Chr2:44502875 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.673T>G (p.Leu225Val) single nucleotide variant Cystinuria [RCV001137890] Chr2:44281449 [GRCh38]
Chr2:44508588 [GRCh37]
Chr2:2p21
uncertain significance
NC_000002.12:g.(?_44299971)_(44318104_?)del deletion Cystinuria [RCV001032666] Chr2:44527110..44545243 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.264C>T (p.Ile88=) single nucleotide variant Cystinuria [RCV000907215] Chr2:44275799 [GRCh38]
Chr2:44502938 [GRCh37]
Chr2:2p21
likely benign
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=) single nucleotide variant Cystinuria [RCV000974690] Chr2:44301026 [GRCh38]
Chr2:44528165 [GRCh37]
Chr2:2p21
benign|likely benign
NM_000341.4(SLC3A1):c.1809A>C (p.Thr603=) single nucleotide variant not provided [RCV000973984] Chr2:44320390 [GRCh38]
Chr2:44547529 [GRCh37]
Chr2:2p21
likely benign
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=) single nucleotide variant Cystinuria [RCV001140891]|not provided [RCV000909411] Chr2:44301116 [GRCh38]
Chr2:44528255 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_000341.4(SLC3A1):c.1389C>T (p.Asn463=) single nucleotide variant not provided [RCV000924415] Chr2:44312642 [GRCh38]
Chr2:44539781 [GRCh37]
Chr2:2p21
likely benign
NM_000341.4(SLC3A1):c.1136+7C>G single nucleotide variant not provided [RCV000909629] Chr2:44301134 [GRCh38]
Chr2:44528273 [GRCh37]
Chr2:2p21
likely benign
NM_001171613.2(PREPL):c.1854C>T (p.Tyr618=) single nucleotide variant not provided [RCV000921491] Chr2:44321419 [GRCh38]
Chr2:44548558 [GRCh37]
Chr2:2p21
benign
NM_000341.4(SLC3A1):c.566C>A (p.Thr189Lys) single nucleotide variant Cystinuria [RCV001236121] Chr2:44280851 [GRCh38]
Chr2:44507990 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.241C>T (p.Arg81Cys) single nucleotide variant Cystinuria [RCV001140779] Chr2:44275776 [GRCh38]
Chr2:44502915 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1613T>C (p.Val538Ala) single nucleotide variant Cystinuria [RCV001138418] Chr2:44313947 [GRCh38]
Chr2:44541086 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1227C>T (p.Phe409=) single nucleotide variant Cystinuria [RCV001142748] Chr2:44304233 [GRCh38]
Chr2:44531372 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1254T>C (p.Thr418=) single nucleotide variant Cystinuria [RCV001142750] Chr2:44304260 [GRCh38]
Chr2:44531399 [GRCh37]
Chr2:2p21
uncertain significance
NC_000002.12:g.(?_44320179)_(44346410_?)del deletion Myasthenic syndrome, congenital, 22 [RCV001033051] Chr2:44547318..44573549 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.*156T>C single nucleotide variant Cystinuria [RCV001142840] Chr2:44320795 [GRCh38]
Chr2:44547934 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1749_1750del (p.Glu585fs) deletion Cystinuria [RCV001225547] Chr2:44320330..44320331 [GRCh38]
Chr2:44547469..44547470 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys) single nucleotide variant Cystine urolithiasis [RCV000991104]|Cystinuria [RCV001140890] Chr2:44301075 [GRCh38]
Chr2:44528214 [GRCh37]
Chr2:2p21
pathogenic|uncertain significance
NM_000341.4(SLC3A1):c.1304T>G (p.Met435Arg) single nucleotide variant Cystine urolithiasis [RCV000991108] Chr2:44304310 [GRCh38]
Chr2:44531449 [GRCh37]
Chr2:2p21
likely pathogenic
NM_000341.4(SLC3A1):c.1365del (p.Arg456fs) deletion Cystine urolithiasis [RCV000991111] Chr2:44312618 [GRCh38]
Chr2:44539757 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1084C>G (p.Arg362Gly) single nucleotide variant Cystine urolithiasis [RCV000991112] Chr2:44301075 [GRCh38]
Chr2:44528214 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1097A>G (p.Gln366Arg) single nucleotide variant Cystine urolithiasis [RCV000991117] Chr2:44301088 [GRCh38]
Chr2:44528227 [GRCh37]
Chr2:2p21
likely pathogenic
NM_001171613.2(PREPL):c.1851G>C (p.Leu617=) single nucleotide variant not provided [RCV000935069] Chr2:44321422 [GRCh38]
Chr2:44548561 [GRCh37]
Chr2:2p21
likely benign
NM_000341.4(SLC3A1):c.1136+10G>A single nucleotide variant Cystinuria [RCV001142746] Chr2:44301137 [GRCh38]
Chr2:44528276 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1250A>T (p.Asp417Val) single nucleotide variant Cystinuria [RCV001142749] Chr2:44304256 [GRCh38]
Chr2:44531395 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser) single nucleotide variant Cystinuria [RCV001140991] Chr2:44320407 [GRCh38]
Chr2:44547546 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1840C>A (p.Leu614Ile) single nucleotide variant Cystinuria [RCV001140992] Chr2:44320421 [GRCh38]
Chr2:44547560 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His) single nucleotide variant Cystinuria [RCV001137998] Chr2:44312620 [GRCh38]
Chr2:44539759 [GRCh37]
Chr2:2p21
uncertain significance
NM_001171613.2(PREPL):c.1888G>A (p.Glu630Lys) single nucleotide variant Myasthenic syndrome, congenital, 22 [RCV001045584] Chr2:44321385 [GRCh38]
Chr2:44548524 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.935G>C (p.Ser312Thr) single nucleotide variant Cystinuria [RCV001140139] Chr2:44300014 [GRCh38]
Chr2:44527153 [GRCh37]
Chr2:2p21
uncertain significance
NC_000002.12:g.(?_44280696)_(44286177_?)del deletion Cystinuria [RCV001033049] Chr2:44507835..44513316 [GRCh37]
Chr2:2p21
pathogenic
NC_000002.12:g.44275454T>G single nucleotide variant Cystinuria [RCV001140021] Chr2:44275454 [GRCh38]
Chr2:44502593 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.769A>G (p.Ser257Gly) single nucleotide variant Cystinuria [RCV001140137] Chr2:44286035 [GRCh38]
Chr2:44513174 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.124G>C (p.Asp42His) single nucleotide variant Cystinuria [RCV001140777] Chr2:44275659 [GRCh38]
Chr2:44502798 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1136+9C>T single nucleotide variant Cystinuria [RCV001140893] Chr2:44301136 [GRCh38]
Chr2:44528275 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1179C>T (p.Thr393=) single nucleotide variant Cystinuria [RCV001142747] Chr2:44304185 [GRCh38]
Chr2:44531324 [GRCh37]
Chr2:2p21
uncertain significance
NM_001171613.2(PREPL):c.1905C>A (p.Tyr635Ter) single nucleotide variant Myasthenic syndrome, congenital, 22 [RCV001050076] Chr2:44321368 [GRCh38]
Chr2:44548507 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:44494834-44571747) copy number loss Cystinuria [RCV001195112] Chr2:44494834..44571747 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.597C>A (p.Ala199=) single nucleotide variant Cystinuria [RCV001137889] Chr2:44280882 [GRCh38]
Chr2:44508021 [GRCh37]
Chr2:2p21
uncertain significance
NM_001171613.2(PREPL):c.1839A>C (p.Gln613His) single nucleotide variant Myasthenic syndrome, congenital, 22 [RCV001219008] Chr2:44321434 [GRCh38]
Chr2:44548573 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.*109A>G single nucleotide variant Cystinuria [RCV001142839] Chr2:44320748 [GRCh38]
Chr2:44547887 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.782_804del (p.Asn261fs) deletion Cystinuria [RCV001216584] Chr2:44286045..44286067 [GRCh38]
Chr2:44513184..44513206 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.1063G>A (p.Val355Met) single nucleotide variant Cystinuria [RCV001140889] Chr2:44301054 [GRCh38]
Chr2:44528193 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1601_1602AC[1] (p.Thr535fs) microsatellite Cystinuria [RCV001064226] Chr2:44313934..44313935 [GRCh38]
Chr2:44541073..44541074 [GRCh37]
Chr2:2p21
pathogenic
NM_000341.4(SLC3A1):c.313A>G (p.Ile105Val) single nucleotide variant Cystinuria [RCV001142634] Chr2:44275848 [GRCh38]
Chr2:44502987 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1136+5A>G single nucleotide variant Cystinuria [RCV001140892] Chr2:44301132 [GRCh38]
Chr2:44528271 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1934G>C (p.Gly645Ala) single nucleotide variant Cystinuria [RCV001140995] Chr2:44320515 [GRCh38]
Chr2:44547654 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys) single nucleotide variant Cystinuria [RCV001257094] Chr2:44304236 [GRCh38]
Chr2:44531375 [GRCh37]
Chr2:2p21
likely pathogenic
NM_001171613.2(PREPL):c.1906C>T (p.Leu636=) single nucleotide variant not provided [RCV001253873] Chr2:44321367 [GRCh38]
Chr2:44548506 [GRCh37]
Chr2:2p21
likely benign
NM_000341.4(SLC3A1):c.1617+1097T>A single nucleotide variant Cystinuria [RCV001257093] Chr2:44315048 [GRCh38]
Chr2:44542187 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.292C>A (p.Leu98Met) single nucleotide variant Cystinuria [RCV001262587] Chr2:44275827 [GRCh38]
Chr2:44502966 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:44506991-44644257)x1 copy number loss not provided [RCV001258533] Chr2:44506991..44644257 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del) microsatellite Cystinuria [RCV001326831] Chr2:44320404..44320406 [GRCh38]
Chr2:44547543..44547545 [GRCh37]
Chr2:2p21
uncertain significance
NM_001171613.2(PREPL):c.1849C>G (p.Leu617Val) single nucleotide variant Myasthenic syndrome, congenital, 22 [RCV001307585] Chr2:44321424 [GRCh38]
Chr2:44548563 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser) single nucleotide variant Cystinuria [RCV001298344] Chr2:44320377 [GRCh38]
Chr2:44547516 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1768G>A (p.Asp590Asn) single nucleotide variant Cystinuria [RCV001345836] Chr2:44320349 [GRCh38]
Chr2:44547488 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1157A>G (p.Tyr386Cys) single nucleotide variant Cystinuria [RCV001344329] Chr2:44304163 [GRCh38]
Chr2:44531302 [GRCh37]
Chr2:2p21
uncertain significance
NM_000341.4(SLC3A1):c.1011+1G>A single nucleotide variant Cystinuria [RCV001336806] Chr2:44300091 [GRCh38]
Chr2:44527230 [GRCh37]
Chr2:2p21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11025 AgrOrtholog
COSMIC SLC3A1 COSMIC
Ensembl Genes ENSG00000138079 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000260649 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386620 UniProtKB/Swiss-Prot
  ENSP00000386677 UniProtKB/Swiss-Prot
  ENSP00000386709 UniProtKB/Swiss-Prot
  ENSP00000386852 UniProtKB/TrEMBL
  ENSP00000386954 UniProtKB/Swiss-Prot
  ENSP00000387308 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000387337 UniProtKB/Swiss-Prot
  ENSP00000391642 UniProtKB/TrEMBL
  ENSP00000483618 UniProtKB/TrEMBL
Ensembl Transcript ENST00000260649 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409229 UniProtKB/Swiss-Prot
  ENST00000409294 UniProtKB/TrEMBL
  ENST00000409380 UniProtKB/Swiss-Prot
  ENST00000409387 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000409740 UniProtKB/Swiss-Prot
  ENST00000409741 UniProtKB/Swiss-Prot
  ENST00000410056 UniProtKB/Swiss-Prot
  ENST00000427285 UniProtKB/TrEMBL
  ENST00000611973 UniProtKB/TrEMBL
GTEx ENSG00000138079 GTEx
HGNC ID HGNC:11025 ENTREZGENE
Human Proteome Map SLC3A1 Human Proteome Map
InterPro Glyco_hydro_13_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6519 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6519 ENTREZGENE
OMIM 104614 OMIM
  220100 OMIM
Pfam Alpha-amylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35893 PharmGKB
SMART Aamy UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X0R9_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4D3_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4E1 ENTREZGENE, UniProtKB/TrEMBL
  B8ZZK1 ENTREZGENE, UniProtKB/TrEMBL
  B8ZZP2_HUMAN UniProtKB/TrEMBL
  C9JBK3_HUMAN UniProtKB/TrEMBL
  Q07837 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K0S1 UniProtKB/Swiss-Prot
  O00658 UniProtKB/Swiss-Prot
  Q15295 UniProtKB/Swiss-Prot
  Q4J6B4 UniProtKB/Swiss-Prot
  Q4J6B5 UniProtKB/Swiss-Prot
  Q4J6B6 UniProtKB/Swiss-Prot
  Q4J6B7 UniProtKB/Swiss-Prot
  Q4J6B8 UniProtKB/Swiss-Prot
  Q4J6B9 UniProtKB/Swiss-Prot
  Q52M92 UniProtKB/Swiss-Prot
  Q52M94 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC3A1  solute carrier family 3 member 1  SLC3A1  solute carrier family 3 (amino acid transporter heavy chain), member 1  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC3A1  solute carrier family 3 (amino acid transporter heavy chain), member 1  SLC3A1  solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1  Symbol and/or name change 5135510 APPROVED