This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by ni... See more...

Aliases for SLC29A1 Gene

Aliases for SLC29A1 Gene

  • Solute Carrier Family 29 Member 1 (Augustine Blood Group) 2 3 5
  • Solute Carrier Family 29 (Equilibrative Nucleoside Transporter), Member 1 2 3
  • Equilibrative Nucleoside Transporter 1 3 4
  • Nucleoside Transporter, Es-Type 3 4
  • ENT1 3 4
  • Equilibrative Nitrobenzylmercaptopurine Riboside (NBMPR)-Sensitive Nucleoside Transporter 3
  • Equilibrative Nitrobenzylmercaptopurine Riboside-Sensitive Nucleoside Transporter 4
  • Solute Carrier Family 29 (Nucleoside Transporters), Member 1 3
  • Equilibrative NBMPR-Sensitive Nucleoside Transporter 4
  • Solute Carrier Family 29 Member 1 4
  • SLC29A1 5

External Ids for SLC29A1 Gene

Previous HGNC Symbols for SLC29A1 Gene

  • ENT1

Previous GeneCards Identifiers for SLC29A1 Gene

  • GC06P044189
  • GC06P044234
  • GC06P044295
  • GC06P044187
  • GC06P043909

Summaries for SLC29A1 Gene

Entrez Gene Summary for SLC29A1 Gene

  • This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC29A1 Gene

SLC29A1 (Solute Carrier Family 29 Member 1 (Augustine Blood Group)) is a Protein Coding gene. Diseases associated with SLC29A1 include Fetal Erythroblastosis and Periampullary Adenocarcinoma. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Fluoropyrimidine Activity. Gene Ontology (GO) annotations related to this gene include nucleoside transmembrane transporter activity. An important paralog of this gene is SLC29A2.

UniProtKB/Swiss-Prot Summary for SLC29A1 Gene

  • Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). It is sensitive (ES) to low concentrations of the inhibitor nitrobenzylmercaptopurine riboside (NBMPR) and is sodium-independent. It has a higher affinity for adenosine. Inhibited by dipyridamole and dilazep (anticancer chemotherapeutics drugs).

Tocris Summary for SLC29A1 Gene

  • Nucleoside transporters are divided into two families: the Na+-dependent solute carrier family 28 (SLC28) and the equilibrative solute carrier family 29 (SLC29). SLC28 family transporters (CNT1, 2 and 3) display subtype-selective tissue expression patterns.

Gene Wiki entry for SLC29A1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC29A1 Gene

Genomics for SLC29A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC29A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC29A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC29A1

Top Transcription factor binding sites by QIAGEN in the SLC29A1 gene promoter:
  • Sp1
  • STAT1

Genomic Locations for SLC29A1 Gene

Latest Assembly
chr6:44,219,553-44,234,144
(GRCh38/hg38)
Size:
14,592 bases
Orientation:
Plus strand

Previous Assembly
chr6:44,187,352-44,201,879
(GRCh37/hg19 by Entrez Gene)
Size:
14,528 bases
Orientation:
Plus strand

chr6:44,187,242-44,201,888
(GRCh37/hg19 by Ensembl)
Size:
14,647 bases
Orientation:
Plus strand

Genomic View for SLC29A1 Gene

Genes around SLC29A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC29A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC29A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC29A1 Gene

Proteins for SLC29A1 Gene

  • Protein details for SLC29A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99808-S29A1_HUMAN
    Recommended name:
    Equilibrative nucleoside transporter 1
    Protein Accession:
    Q99808
    Secondary Accessions:
    • B3KQV7
    • B3KQY5
    • Q5T9W9
    • Q9UJY2

    Protein attributes for SLC29A1 Gene

    Size:
    456 amino acids
    Molecular mass:
    50219 Da
    Quaternary structure:
    • Identified in a complex with STOM.

    Three dimensional structures from OCA and Proteopedia for SLC29A1 Gene

    Alternative splice isoforms for SLC29A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC29A1 Gene

Post-translational modifications for SLC29A1 Gene

  • Glycosylated.
  • Glycosylation at Asn48 and Ser63
  • Ubiquitination at Lys239, Lys249, Lys255, and Lys356
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • S29A1_HUMAN (1219)

Antibodies for research

  • Abcam antibodies for SLC29A1

No data available for DME Specific Peptides for SLC29A1 Gene

Domains & Families for SLC29A1 Gene

Gene Families for SLC29A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC29A1 Gene

InterPro:
Blocks:
  • Delayed-early response protein/equilibrative nucleoside transporter signature

Suggested Antigen Peptide Sequences for SLC29A1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ33172 fis, clone ADRGL2002029, highly similar to Equilibrative nucleoside transporter 1 (B3KQV7_HUMAN)
  • Equilibrative nucleoside transporter 1 (C8KHU1_HUMAN)
  • Equilibrative nucleoside transporter 1 (C8KHU2_HUMAN)
  • Solute carrier family 29 member 1 (S29A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99808

UniProtKB/Swiss-Prot:

S29A1_HUMAN :
  • Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.
Family:
  • Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.
genes like me logo Genes that share domains with SLC29A1: view

Function for SLC29A1 Gene

Molecular function for SLC29A1 Gene

UniProtKB/Swiss-Prot Function:
Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). It is sensitive (ES) to low concentrations of the inhibitor nitrobenzylmercaptopurine riboside (NBMPR) and is sodium-independent. It has a higher affinity for adenosine. Inhibited by dipyridamole and dilazep (anticancer chemotherapeutics drugs).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.62 mM for adenosine {ECO:0000269|PubMed:12527552}; Note=Vmax for adenosine uptake is about the same for SLC29A1 and SLC29A2.;
GENATLAS Biochemistry:
solute carrier family 29,member A1,equilibrative nucleoside transporter,widely distributed

Phenotypes From GWAS Catalog for SLC29A1 Gene

Gene Ontology (GO) - Molecular Function for SLC29A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005326 neurotransmitter transporter activity ISS --
GO:0005337 nucleoside transmembrane transporter activity IEA,IBA 21873635
GO:0015211 purine nucleoside transmembrane transporter activity ISS --
GO:0015213 uridine transmembrane transporter activity IDA 9396714
genes like me logo Genes that share ontologies with SLC29A1: view
genes like me logo Genes that share phenotypes with SLC29A1: view

Animal Models for SLC29A1 Gene

MGI Knock Outs for SLC29A1:

Animal Models for research

  • Taconic Biosciences Mouse Models for SLC29A1

miRNA for SLC29A1 Gene

miRTarBase miRNAs that target SLC29A1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC29A1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC29A1 Gene

Localization for SLC29A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC29A1 Gene

Basolateral cell membrane. Multi-pass membrane protein. Apical cell membrane. Multi-pass membrane protein. Cell membrane. Multi-pass membrane protein. Note=Predominantly localized in the basolateral membrane in polarized MDCK cells.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC29A1 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC29A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA,IBA 21873635
GO:0016323 basolateral plasma membrane IEA,IDA 12527552
genes like me logo Genes that share ontologies with SLC29A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC29A1 Gene

Pathways & Interactions for SLC29A1 Gene

genes like me logo Genes that share pathways with SLC29A1: view

SIGNOR curated interactions for SLC29A1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SLC29A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001504 neurotransmitter uptake ISS --
GO:0006139 nucleobase-containing compound metabolic process TAS 8986748
GO:0006836 neurotransmitter transport IDA 9396714
GO:0007595 lactation IEA --
GO:0015858 nucleoside transport IEA,IDA 12527552
genes like me logo Genes that share ontologies with SLC29A1: view

Drugs & Compounds for SLC29A1 Gene

(41) Drugs for SLC29A1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dipyridamole Approved Pharma Inhibitor, Inhibition Adenosine transport inhibitor 97
Gemcitabine Approved Pharma Transporter, substrate Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2590
Ribavirin Approved Pharma Transporter, substrate 1083
Cytarabine Approved, Investigational Pharma Transporter, substrate 1376
Fludarabine Approved Pharma Transporter, substrate DNA synthsis inhibitor 1633,1633

(17) Additional Compounds for SLC29A1 Gene - From: Novoseek, IUPHAR, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>14</sup>C]adenosine
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
7440-23-5
8MDP
29491-75-6

(4) Tocris Compounds for SLC29A1 Gene

Compound Action Cas Number
8MDP Potent equilibrative nucleoside transporter (ENT) inhibitor 29491-75-6
Dilazep dihydrochloride Adenosine uptake inhibitor 20153-98-4
Dipyridamole Adenosine transport inhibitor 58-32-2
NBMPR Equilibrative nucleoside transporter 1 (ENT1) inhibitor 38048-32-7

(3) ApexBio Compounds for SLC29A1 Gene

Compound Action Cas Number
Decynium 22 977-96-8
Dilazep dihydrochloride 20153-98-4
NBMPR 38048-32-7
genes like me logo Genes that share compounds with SLC29A1: view

Drug products for research

Transcripts for SLC29A1 Gene

mRNA/cDNA for SLC29A1 Gene

10 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC29A1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SLC29A1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d · 11e ^ 12a ·
SP1: - - - - - - - - - - -
SP2: - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - - - - - -
SP6: - -
SP7: - - - - - - -
SP8: - - - - - - -
SP9: - - - - - - - -
SP10:
SP11:
SP12:
SP13:
SP14: - - - - - - - - - - -
SP15: - - - - - -
SP16: - - - - - - - - -
SP17: - - - -
SP18:
SP19: - - - - - - - - - - - - - - - - -
SP20:
SP21:
SP22:
SP23: - - - - - - - - - - - - -
SP24: - - - - - - - - - - - -
SP25: - - - - - - - - - - -
SP26: - - - - - - - - - - - -
SP27: - - - - - - - - - - -
SP28: - - - - - - - -
SP29: - - - - - - - -
SP30: - - - - - -
SP31: - - - - - -
SP32:

ExUns: 12b · 12c · 12d · 12e · 12f · 12g · 12h ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b ·
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - -
SP8: - - - - - -
SP9: - - - - - -
SP10: - -
SP11: - - - - - -
SP12: - - - - - - - - -
SP13: - -
SP14:
SP15:
SP16: - - - - - -
SP17:
SP18: - - -
SP19: - - - - - - - - - - -
SP20:
SP21:
SP22:
SP23: - - - - - -
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:
SP30:
SP31:
SP32:

Relevant External Links for SLC29A1 Gene

GeneLoc Exon Structure for
SLC29A1

Expression for SLC29A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC29A1 Gene

Protein differential expression in normal tissues from HIPED for SLC29A1 Gene

This gene is overexpressed in Fetal Liver (10.3), Placenta (10.0), Breast (9.0), and Liver (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC29A1 Gene



Protein tissue co-expression partners for SLC29A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC29A1

SOURCE GeneReport for Unigene cluster for SLC29A1 Gene:

Hs.25450

mRNA Expression by UniProt/SwissProt for SLC29A1 Gene:

Q99808-S29A1_HUMAN
Tissue specificity: Detected in erythrocytes (at protein level). Expressed in heart, brain, mammary gland, erythrocytes and placenta, and also in fetal liver and spleen.

Evidence on tissue expression from TISSUES for SLC29A1 Gene

  • Muscle(4.7)
  • Nervous system(4.6)
  • Intestine(4.6)
  • Adrenal gland(4.5)
  • Heart(3.2)
  • Liver(3)
  • Skin(2.8)
  • Pancreas(2.8)
  • Lung(2.6)
  • Kidney(2.5)
  • Stomach(2.5)
  • Blood(2.5)
  • Bone marrow(2.3)
  • Lymph node(2.3)
  • Gall bladder(2.2)
genes like me logo Genes that share expression patterns with SLC29A1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC29A1 Gene

Orthologs for SLC29A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC29A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC29A1 29 30
  • 99.56 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC29A1 29
  • 89.55 (n)
Cow
(Bos Taurus)
Mammalia SLC29A1 29 30
  • 87.57 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc29a1 29 16 30
  • 82.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc29a1 29
  • 81.8 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 73 (a)
OneToMany
-- 30
  • 65 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC29A1 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC29A1 29 30
  • 68.09 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC29A1 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia MGC107853 29
  • 64.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68732 29
Zebrafish
(Danio rerio)
Actinopterygii LOC100331439 29
  • 67.92 (n)
slc29a1a 30
  • 65 (a)
OneToMany
SLC29A1 (2 of 2) 30
  • 65 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.290 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009114 29
  • 50.54 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Ent1 29 30
  • 47.39 (n)
OneToMany
CG11907 31
  • 32 (a)
BEST:LD04971 31
  • 30 (a)
Worm
(Caenorhabditis elegans)
Secernentea ent-2 30
  • 26 (a)
ManyToMany
K02E11.1 31
  • 26 (a)
K09A9.3 31
  • 26 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FUN26 29
  • 43.22 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15862g 29
  • 42.47 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU00356 29
  • 45.6 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 37 (a)
OneToMany
Species where no ortholog for SLC29A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC29A1 Gene

ENSEMBL:
Gene Tree for SLC29A1 (if available)
TreeFam:
Gene Tree for SLC29A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC29A1: view image
Alliance of Genome Resources:
Additional Orthologs for SLC29A1

Paralogs for SLC29A1 Gene

Paralogs for SLC29A1 Gene

(2) SIMAP similar genes for SLC29A1 Gene using alignment to 4 proteins:

  • S29A1_HUMAN
  • B3KQV7_HUMAN
  • C8KHU1_HUMAN
  • C8KHU2_HUMAN
genes like me logo Genes that share paralogs with SLC29A1: view

Variants for SLC29A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC29A1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs1131690802 Pathogenic: Hemolytic disease of fetus OR newborn due to isoimmunization 44,232,906(+) A/C
NM_001078177.2(SLC29A1):c.1159A>C (p.Thr387Pro)
MISSENSE
rs1582941569 Uncertain Significance: Squamous cell carcinoma of the head and neck 44,227,333(+) C/T
NM_001372327.1(SLC29A1):c.20C>T (p.Pro7Leu)
MISSENSE
rs186556 Benign: not provided 44,231,465(+) C/T
NM_001372327.1(SLC29A1):c.864+4C>T
INTRON
rs199774402 Likely Benign: not provided 44,233,410(+) C/T
NM_001372327.1(SLC29A1):c.1260-7C>T
INTRON
rs76642036 Likely Benign: not provided 44,230,596(+) C/T
NM_001372327.1(SLC29A1):c.618C>T (p.Phe206=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC29A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC29A1 Gene

Variant ID Type Subtype PubMed ID
dgv10641n54 CNV loss 21841781
nsv462936 CNV loss 19166990
nsv524398 CNV loss 19592680