SLC6A20 (solute carrier family 6 member 20) - Rat Genome Database

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Gene: SLC6A20 (solute carrier family 6 member 20) Homo sapiens
Analyze
Symbol: SLC6A20
Name: solute carrier family 6 member 20
RGD ID: 1603308
HGNC Page HGNC:30927
Description: Enables L-proline transmembrane transporter activity and proline:sodium symporter activity. Involved in L-proline import across plasma membrane and glycine import across plasma membrane. Located in apical plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: IMINO; MGC161475; neurotransmitter transporter RB21A; orphan transporter XT3; SIT1; sodium- and chloride-dependent transporter XTRP3; sodium-dependent imino acid transporter 1; sodium/imino-acid transporter 1; solute carrier family 6 (neurotransmitter transporter), member 20; solute carrier family 6 (proline IMINO transporter), member 20; transporter rB21A homolog; X transporter protein 3; XT3; Xtrp3
RGD Orthologs
Mouse
Rat
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
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38345,755,449 - 45,796,536 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl345,755,449 - 45,796,574 (-)EnsemblGRCh38hg38GRCh38
GRCh37345,796,941 - 45,838,028 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36345,771,946 - 45,812,966 (-)NCBINCBI36Build 36hg18NCBI36
Celera345,734,543 - 45,775,644 (-)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef345,840,974 - 45,881,992 (-)NCBIHuRef
CHM1_1345,746,576 - 45,787,673 (-)NCBICHM1_1
T2T-CHM13v2.0345,771,093 - 45,812,175 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:3571270   PMID:9932288   PMID:11352561   PMID:12477932   PMID:15308626   PMID:15632147   PMID:16234310   PMID:18195088   PMID:19033659   PMID:19657969   PMID:21572414   PMID:21873635  
PMID:22610502   PMID:23333304   PMID:24816252   PMID:24927181   PMID:24958070   PMID:25310821   PMID:25416956   PMID:25534429   PMID:26049783   PMID:30160974   PMID:30280653   PMID:31358688  
PMID:32296183   PMID:32558485   PMID:33428810   PMID:33619245   PMID:33961781   PMID:34425859   PMID:34969185   PMID:35255492  


Genomics

Comparative Map Data
SLC6A20
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38345,755,449 - 45,796,536 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl345,755,449 - 45,796,574 (-)EnsemblGRCh38hg38GRCh38
GRCh37345,796,941 - 45,838,028 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36345,771,946 - 45,812,966 (-)NCBINCBI36Build 36hg18NCBI36
Celera345,734,543 - 45,775,644 (-)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef345,840,974 - 45,881,992 (-)NCBIHuRef
CHM1_1345,746,576 - 45,787,673 (-)NCBICHM1_1
T2T-CHM13v2.0345,771,093 - 45,812,175 (-)NCBIT2T-CHM13v2.0
Slc6a20b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399123,422,888 - 123,461,603 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9123,419,865 - 123,461,630 (-)EnsemblGRCm39 Ensembl
GRCm389123,593,823 - 123,632,538 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9123,590,800 - 123,632,565 (-)EnsemblGRCm38mm10GRCm38
MGSCv379123,502,938 - 123,541,683 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369123,443,524 - 123,481,174 (-)NCBIMGSCv36mm8
Celera9124,048,718 - 124,087,483 (-)NCBICelera
Cytogenetic Map9F4NCBI
cM Map974.19NCBI
Slc6a20a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.28123,282,325 - 123,322,609 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8123,281,472 - 123,322,573 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8128,872,218 - 128,912,417 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08127,071,181 - 127,111,393 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08124,900,709 - 124,940,903 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08132,713,013 - 132,753,145 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8132,665,927 - 132,753,292 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08131,865,713 - 131,905,845 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48128,412,080 - 128,452,212 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18128,431,816 - 128,471,949 (-)NCBI
Celera8122,390,559 - 122,430,719 (-)NCBICelera
Cytogenetic Map8q32NCBI
SLC6A20
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1345,725,790 - 45,765,483 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0345,663,830 - 45,703,576 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1346,770,067 - 46,811,158 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl346,770,067 - 46,811,158 (-)Ensemblpanpan1.1panPan2
SLC6A20
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12042,702,368 - 42,725,804 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2042,702,379 - 42,724,658 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2042,604,583 - 42,642,873 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02043,172,646 - 43,210,926 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2043,172,634 - 43,210,151 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12042,412,873 - 42,451,212 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02042,820,410 - 42,858,724 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02043,095,423 - 43,133,672 (+)NCBIUU_Cfam_GSD_1.0
Slc6a20
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118197,794,009 - 197,842,662 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936695146,421 - 195,121 (+)EnsemblSpeTri2.0
SpeTri2.0NW_004936695146,571 - 193,428 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC6A20
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1328,899,821 - 28,945,187 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11328,897,831 - 28,945,191 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21332,015,969 - 32,043,611 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC6A20
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1227,228,039 - 7,265,441 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl227,228,517 - 7,265,031 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041159,900,571 - 159,938,890 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc6a20
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473075,084,748 - 75,109,112 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473075,081,189 - 75,107,288 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC6A20
206 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met) single nucleotide variant Hyperglycinuria [RCV000005117]|not provided [RCV001636599] Chr3:45772602 [GRCh38]
Chr3:45814094 [GRCh37]
Chr3:3p21.31		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_020208.3(SLC6A20):c.*2142C>A single nucleotide variant Lung cancer [RCV000093583] Chr3:45756836 [GRCh38]
Chr3:45798328 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.3(SLC6A20):c.400G>A (p.Gly134Ser) single nucleotide variant Malignant melanoma [RCV000066084] Chr3:45775943 [GRCh38]
Chr3:45817435 [GRCh37]
Chr3:45792439 [NCBI36]
Chr3:3p21.31		 not provided
NM_020208.4(SLC6A20):c.1609C>T (p.Gln537Ter) single nucleotide variant Hyperglycinuria [RCV001292935] Chr3:45759877 [GRCh38]
Chr3:45801369 [GRCh37]
Chr3:3p21.31		 pathogenic
GRCh38/hg38 3p21.31(chr3:45691931-46277910)x3 copy number gain See cases [RCV000134890] Chr3:45691931..46277910 [GRCh38]
Chr3:45733423..46319401 [GRCh37]
Chr3:45708427..46294405 [NCBI36]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.786C>T (p.Phe262=) single nucleotide variant Hyperglycinuria [RCV000260204] Chr3:45771366 [GRCh38]
Chr3:45812858 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.*2685T>C single nucleotide variant Hyperglycinuria [RCV000261109] Chr3:45756293 [GRCh38]
Chr3:45797785 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.26C>G (p.Ala9Gly) single nucleotide variant Hyperglycinuria [RCV000263937]|not provided [RCV001675846] Chr3:45796394 [GRCh38]
Chr3:45837886 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.262+4C>T single nucleotide variant Hyperglycinuria [RCV000267632]|Hyperglycinuria [RCV002487518] Chr3:45782079 [GRCh38]
Chr3:45823571 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1051A>C (p.Met351Leu) single nucleotide variant Hyperglycinuria [RCV000273388]|Hyperglycinuria [RCV002502323] Chr3:45770256 [GRCh38]
Chr3:45811748 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1741C>T (p.Arg581Cys) single nucleotide variant Hyperglycinuria [RCV000278713] Chr3:45759016 [GRCh38]
Chr3:45800508 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1477C>T (p.Leu493Phe) single nucleotide variant Hyperglycinuria [RCV000283113] Chr3:45760009 [GRCh38]
Chr3:45801501 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 copy number gain See cases [RCV000240519] Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31		 likely pathogenic
NM_020208.4(SLC6A20):c.*3436C>G single nucleotide variant Hyperglycinuria [RCV000271440] Chr3:45755542 [GRCh38]
Chr3:45797034 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*548A>G single nucleotide variant Hyperglycinuria [RCV000271512] Chr3:45758430 [GRCh38]
Chr3:45799922 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.282C>G (p.Val94=) single nucleotide variant Hyperglycinuria [RCV000298927]|not provided [RCV001613139] Chr3:45780081 [GRCh38]
Chr3:45821573 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.*1063_*1064dup duplication Hyperglycinuria [RCV000299229] Chr3:45757913..45757914 [GRCh38]
Chr3:45799405..45799406 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1086G>A (p.Ser362=) single nucleotide variant Hyperglycinuria [RCV000313461] Chr3:45770221 [GRCh38]
Chr3:45811713 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.*1527A>G single nucleotide variant Hyperglycinuria [RCV000332534] Chr3:45757451 [GRCh38]
Chr3:45798943 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1192T>C single nucleotide variant Hyperglycinuria [RCV000397058] Chr3:45757786 [GRCh38]
Chr3:45799278 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.*1169T>C single nucleotide variant Hyperglycinuria [RCV000334427] Chr3:45757809 [GRCh38]
Chr3:45799301 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.268G>A (p.Ala90Thr) single nucleotide variant Hyperglycinuria [RCV000353127]|Hyperglycinuria [RCV002487517] Chr3:45780095 [GRCh38]
Chr3:45821587 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2675C>G single nucleotide variant Hyperglycinuria [RCV000375678] Chr3:45756303 [GRCh38]
Chr3:45797795 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1786_*1787del deletion Hyperglycinuria [RCV000355180] Chr3:45757191..45757192 [GRCh38]
Chr3:45798683..45798684 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.*446G>A single nucleotide variant Hyperglycinuria [RCV000376493] Chr3:45758532 [GRCh38]
Chr3:45800024 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.507G>A (p.Glu169=) single nucleotide variant Hyperglycinuria [RCV000399219]|not provided [RCV001718737] Chr3:45775836 [GRCh38]
Chr3:45817328 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.858C>T (p.Thr286=) single nucleotide variant Hyperglycinuria [RCV000355322]|not provided [RCV000965632] Chr3:45771294 [GRCh38]
Chr3:45812786 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.*2442A>C single nucleotide variant Hyperglycinuria [RCV000400818] Chr3:45756536 [GRCh38]
Chr3:45798028 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.354+7C>T single nucleotide variant Hyperglycinuria [RCV000401512] Chr3:45780002 [GRCh38]
Chr3:45821494 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1092A>T (p.Leu364=) single nucleotide variant Hyperglycinuria [RCV000401642]|Hyperglycinuria [RCV002488747] Chr3:45770215 [GRCh38]
Chr3:45811707 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.*2676T>A single nucleotide variant Hyperglycinuria [RCV000318695] Chr3:45756302 [GRCh38]
Chr3:45797794 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.693+4C>T single nucleotide variant Hyperglycinuria [RCV000379245]|not provided [RCV001691987] Chr3:45772501 [GRCh38]
Chr3:45813993 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.1742G>A (p.Arg581His) single nucleotide variant Hyperglycinuria [RCV000380125]|Hyperglycinuria [RCV002504153] Chr3:45759015 [GRCh38]
Chr3:45800507 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.366G>A (p.Pro122=) single nucleotide variant Hyperglycinuria [RCV000338720] Chr3:45775977 [GRCh38]
Chr3:45817469 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1422A>G single nucleotide variant Hyperglycinuria [RCV000288153] Chr3:45757556 [GRCh38]
Chr3:45799048 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_020208.4(SLC6A20):c.258T>A (p.Gly86=) single nucleotide variant Hyperglycinuria [RCV000304161] Chr3:45782087 [GRCh38]
Chr3:45823579 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1629C>T single nucleotide variant Hyperglycinuria [RCV000320064] Chr3:45757349 [GRCh38]
Chr3:45798841 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.654C>T (p.His218=) single nucleotide variant Hyperglycinuria [RCV000321340] Chr3:45772544 [GRCh38]
Chr3:45814036 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*3404C>T single nucleotide variant Hyperglycinuria [RCV000359315] Chr3:45755574 [GRCh38]
Chr3:45797066 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2035A>G single nucleotide variant Hyperglycinuria [RCV000360897] Chr3:45756943 [GRCh38]
Chr3:45798435 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.-49T>A single nucleotide variant Hyperglycinuria [RCV000383051] Chr3:45796468 [GRCh38]
Chr3:45837960 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.599C>T (p.Ala200Val) single nucleotide variant Hyperglycinuria [RCV000290946] Chr3:45772599 [GRCh38]
Chr3:45814091 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1186T>C single nucleotide variant Hyperglycinuria [RCV000305339] Chr3:45757792 [GRCh38]
Chr3:45799284 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.*1344G>A single nucleotide variant Hyperglycinuria [RCV000383767] Chr3:45757634 [GRCh38]
Chr3:45799126 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1328T>C single nucleotide variant Hyperglycinuria [RCV000291901] Chr3:45757650 [GRCh38]
Chr3:45799142 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.1747C>T (p.Leu583Phe) single nucleotide variant Hyperglycinuria [RCV000323190]|Inborn genetic diseases [RCV002520124] Chr3:45759010 [GRCh38]
Chr3:45800502 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1236G>A (p.Ala412=) single nucleotide variant Hyperglycinuria [RCV000362363] Chr3:45765604 [GRCh38]
Chr3:45807096 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.615C>T (p.Cys205=) single nucleotide variant Hyperglycinuria [RCV000385237]|Hyperglycinuria [RCV002487515] Chr3:45772583 [GRCh38]
Chr3:45814075 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*3519G>A single nucleotide variant Hyperglycinuria [RCV000408279] Chr3:45755459 [GRCh38]
Chr3:45796951 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.*2647T>C single nucleotide variant Hyperglycinuria [RCV000292451] Chr3:45756331 [GRCh38]
Chr3:45797823 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.1248C>T (p.Thr416=) single nucleotide variant Hyperglycinuria [RCV000307665] Chr3:45765592 [GRCh38]
Chr3:45807084 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*3118A>G single nucleotide variant Hyperglycinuria [RCV000324472] Chr3:45755860 [GRCh38]
Chr3:45797352 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.*2479A>G single nucleotide variant Hyperglycinuria [RCV000343771] Chr3:45756499 [GRCh38]
Chr3:45797991 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.*3436C>T single nucleotide variant Hyperglycinuria [RCV000363784] Chr3:45755542 [GRCh38]
Chr3:45797034 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_020208.4(SLC6A20):c.*590G>A single nucleotide variant Hyperglycinuria [RCV000363544] Chr3:45758388 [GRCh38]
Chr3:45799880 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2244G>A single nucleotide variant Hyperglycinuria [RCV000308566] Chr3:45756734 [GRCh38]
Chr3:45798226 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.*599G>A single nucleotide variant Hyperglycinuria [RCV000325237] Chr3:45758379 [GRCh38]
Chr3:45799871 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.*2560CTT[1] microsatellite Hyperglycinuria [RCV000387853] Chr3:45756413..45756415 [GRCh38]
Chr3:45797905..45797907 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1506A>T single nucleotide variant Hyperglycinuria [RCV000389512] Chr3:45757472 [GRCh38]
Chr3:45798964 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_020208.4(SLC6A20):c.*1345T>C single nucleotide variant Hyperglycinuria [RCV000345501] Chr3:45757633 [GRCh38]
Chr3:45799125 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_020208.4(SLC6A20):c.-102C>A single nucleotide variant Hyperglycinuria [RCV000294777]|not provided [RCV001636963] Chr3:45796521 [GRCh38]
Chr3:45838013 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.*2230C>G single nucleotide variant Hyperglycinuria [RCV000347199] Chr3:45756748 [GRCh38]
Chr3:45798240 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1463+14G>A single nucleotide variant Hyperglycinuria [RCV000347414]|not provided [RCV001618614] Chr3:45762899 [GRCh38]
Chr3:45804391 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.1059G>A (p.Pro353=) single nucleotide variant Hyperglycinuria [RCV000367975] Chr3:45770248 [GRCh38]
Chr3:45811740 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.*2492T>C single nucleotide variant Hyperglycinuria [RCV000295815] Chr3:45756486 [GRCh38]
Chr3:45797978 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.521T>A (p.Leu174His) single nucleotide variant Hyperglycinuria [RCV000296311] Chr3:45775822 [GRCh38]
Chr3:45817314 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.-45G>C single nucleotide variant Hyperglycinuria [RCV000328467] Chr3:45796464 [GRCh38]
Chr3:45837956 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*537T>C single nucleotide variant Hyperglycinuria [RCV000328961] Chr3:45758441 [GRCh38]
Chr3:45799933 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.*654C>T single nucleotide variant Hyperglycinuria [RCV000369565] Chr3:45758324 [GRCh38]
Chr3:45799816 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.417T>C (p.Cys139=) single nucleotide variant Hyperglycinuria [RCV000311879]|not provided [RCV001643047] Chr3:45775926 [GRCh38]
Chr3:45817418 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.*871C>G single nucleotide variant Hyperglycinuria [RCV000312192] Chr3:45758107 [GRCh38]
Chr3:45799599 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_020208.4(SLC6A20):c.1644C>G (p.Thr548=) single nucleotide variant Hyperglycinuria [RCV000395050] Chr3:45759113 [GRCh38]
Chr3:45800605 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1819T>G single nucleotide variant Hyperglycinuria [RCV000297740] Chr3:45757159 [GRCh38]
Chr3:45798651 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.512C>T (p.Ala171Val) single nucleotide variant Hyperglycinuria [RCV000351236]|Hyperglycinuria [RCV002487516] Chr3:45775831 [GRCh38]
Chr3:45817323 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*3101C>T single nucleotide variant Hyperglycinuria [RCV000372064] Chr3:45755877 [GRCh38]
Chr3:45797369 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.-66C>A single nucleotide variant Hyperglycinuria [RCV000269995] Chr3:45796485 [GRCh38]
Chr3:45837977 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1699T>C single nucleotide variant Hyperglycinuria [RCV000262736] Chr3:45757279 [GRCh38]
Chr3:45798771 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1596T>A single nucleotide variant Hyperglycinuria [RCV000275132] Chr3:45757382 [GRCh38]
Chr3:45798874 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2206dup duplication Hyperglycinuria [RCV000401573] Chr3:45756771..45756772 [GRCh38]
Chr3:45798263..45798264 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*644C>T single nucleotide variant Hyperglycinuria [RCV000277252] Chr3:45758334 [GRCh38]
Chr3:45799826 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*3383C>T single nucleotide variant Hyperglycinuria [RCV000266892] Chr3:45755595 [GRCh38]
Chr3:45797087 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2017_*2018insGGA insertion Hyperglycinuria [RCV000268360] Chr3:45756960..45756961 [GRCh38]
Chr3:45798452..45798453 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2176T>C single nucleotide variant Hyperglycinuria [RCV000303722] Chr3:45756802 [GRCh38]
Chr3:45798294 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1304-4C>G single nucleotide variant Hyperglycinuria [RCV000400840] Chr3:45763076 [GRCh38]
Chr3:45804568 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1066del deletion Hyperglycinuria [RCV000402380] Chr3:45757912 [GRCh38]
Chr3:45799404 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.991A>C (p.Ser331Arg) single nucleotide variant Hyperglycinuria [RCV000319156] Chr3:45770316 [GRCh38]
Chr3:45811808 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1602C>G single nucleotide variant Hyperglycinuria [RCV000386374] Chr3:45757376 [GRCh38]
Chr3:45798868 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*142A>C single nucleotide variant Hyperglycinuria [RCV000284423] Chr3:45758836 [GRCh38]
Chr3:45800328 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.659C>T (p.Ala220Val) single nucleotide variant Hyperglycinuria [RCV000284832] Chr3:45772539 [GRCh38]
Chr3:45814031 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*3486A>G single nucleotide variant Hyperglycinuria [RCV000306799] Chr3:45755492 [GRCh38]
Chr3:45796984 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2583T>C single nucleotide variant Hyperglycinuria [RCV000349689] Chr3:45756395 [GRCh38]
Chr3:45797887 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1730C>A (p.Thr577Asn) single nucleotide variant Hyperglycinuria [RCV000336151] Chr3:45759027 [GRCh38]
Chr3:45800519 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.-99C>G single nucleotide variant Hyperglycinuria [RCV000389165] Chr3:45796518 [GRCh38]
Chr3:45838010 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*3408A>G single nucleotide variant Hyperglycinuria [RCV000310229] Chr3:45755570 [GRCh38]
Chr3:45797062 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.694A>G (p.Ile232Val) single nucleotide variant Hyperglycinuria [RCV000324758] Chr3:45771458 [GRCh38]
Chr3:45812950 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.-84G>T single nucleotide variant Hyperglycinuria [RCV000325307] Chr3:45796503 [GRCh38]
Chr3:45837995 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1253A>G single nucleotide variant Hyperglycinuria [RCV000339820] Chr3:45757725 [GRCh38]
Chr3:45799217 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1044del deletion Hyperglycinuria [RCV000356357] Chr3:45757934 [GRCh38]
Chr3:45799426 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*917G>A single nucleotide variant Hyperglycinuria [RCV000393116] Chr3:45758061 [GRCh38]
Chr3:45799553 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.578G>C (p.Gly193Ala) single nucleotide variant Hyperglycinuria [RCV000393169] Chr3:45775765 [GRCh38]
Chr3:45817257 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.39G>C (p.Gln13His) single nucleotide variant Hyperglycinuria [RCV000358916] Chr3:45796381 [GRCh38]
Chr3:45837873 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.944del (p.Leu315fs) deletion not provided [RCV000722441] Chr3:45770363 [GRCh38]
Chr3:45811855 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_020208.4(SLC6A20):c.1304-170G>A single nucleotide variant not provided [RCV001649081] Chr3:45763242 [GRCh38]
Chr3:45804734 [GRCh37]
Chr3:3p21.31		 benign
NM_020208.4(SLC6A20):c.1464-212G>A single nucleotide variant not provided [RCV001611497] Chr3:45760234 [GRCh38]
Chr3:45801726 [GRCh37]
Chr3:3p21.31		 benign
NM_020208.4(SLC6A20):c.594C>T (p.Phe198=) single nucleotide variant Hyperglycinuria [RCV001149165] Chr3:45772604 [GRCh38]
Chr3:45814096 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1677C>G (p.Ile559Met) single nucleotide variant Hyperglycinuria [RCV001149043] Chr3:45759080 [GRCh38]
Chr3:45800572 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1760C>T single nucleotide variant Hyperglycinuria [RCV001146120] Chr3:45757218 [GRCh38]
Chr3:45798710 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.354+2T>A single nucleotide variant Hyperglycinuria [RCV000779410]|Hyperglycinuria [RCV002501015] Chr3:45780007 [GRCh38]
Chr3:45821499 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1098+2T>C single nucleotide variant Hyperglycinuria [RCV000778700]|Hyperglycinuria [RCV002493422] Chr3:45770207 [GRCh38]
Chr3:45811699 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1		 pathogenic
NM_020208.4(SLC6A20):c.*2808C>T single nucleotide variant Hyperglycinuria [RCV001148790] Chr3:45756170 [GRCh38]
Chr3:45797662 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.693+14C>T single nucleotide variant Hyperglycinuria [RCV001146380] Chr3:45772491 [GRCh38]
Chr3:45813983 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.79A>G (p.Asn27Asp) single nucleotide variant Hyperglycinuria [RCV001146508]|Hyperglycinuria [RCV002482282] Chr3:45796341 [GRCh38]
Chr3:45837833 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*3102G>T single nucleotide variant Hyperglycinuria [RCV001146004] Chr3:45755876 [GRCh38]
Chr3:45797368 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1581G>C single nucleotide variant Hyperglycinuria [RCV001146122] Chr3:45757397 [GRCh38]
Chr3:45798889 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*146A>G single nucleotide variant Hyperglycinuria [RCV001146251] Chr3:45758832 [GRCh38]
Chr3:45800324 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.666T>A (p.Asn222Lys) single nucleotide variant Hyperglycinuria [RCV001149164]|Hyperglycinuria [RCV002505726] Chr3:45772532 [GRCh38]
Chr3:45814024 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*3521G>T single nucleotide variant Hyperglycinuria [RCV001150250] Chr3:45755457 [GRCh38]
Chr3:45796949 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1285T>C single nucleotide variant Hyperglycinuria [RCV001148925] Chr3:45757693 [GRCh38]
Chr3:45799185 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2939A>G single nucleotide variant Hyperglycinuria [RCV001146007] Chr3:45756039 [GRCh38]
Chr3:45797531 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*22C>G single nucleotide variant Hyperglycinuria [RCV001149040] Chr3:45758956 [GRCh38]
Chr3:45800448 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1491C>T (p.Thr497=) single nucleotide variant Hyperglycinuria [RCV001150551] Chr3:45759995 [GRCh38]
Chr3:45801487 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.769G>A (p.Gly257Ser) single nucleotide variant Inborn genetic diseases [RCV003240001] Chr3:45771383 [GRCh38]
Chr3:45812875 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.746T>C (p.Phe249Ser) single nucleotide variant Hyperglycinuria [RCV001146378] Chr3:45771406 [GRCh38]
Chr3:45812898 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.678C>T (p.Tyr226=) single nucleotide variant Hyperglycinuria [RCV001146381]|Hyperglycinuria [RCV002480537] Chr3:45772520 [GRCh38]
Chr3:45814012 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.473C>T (p.Pro158Leu) single nucleotide variant Hyperglycinuria [RCV001150675]|Hyperglycinuria [RCV002480548] Chr3:45775870 [GRCh38]
Chr3:45817362 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2198T>C single nucleotide variant Hyperglycinuria [RCV001144229] Chr3:45756780 [GRCh38]
Chr3:45798272 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*730G>A single nucleotide variant Hyperglycinuria [RCV001144348] Chr3:45758248 [GRCh38]
Chr3:45799740 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.310G>A (p.Val104Ile) single nucleotide variant Hyperglycinuria [RCV001144580] Chr3:45780053 [GRCh38]
Chr3:45821545 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.147C>T (p.Ile49=) single nucleotide variant Hyperglycinuria [RCV001144582] Chr3:45782198 [GRCh38]
Chr3:45823690 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.*2762A>T single nucleotide variant Hyperglycinuria [RCV001148791] Chr3:45756216 [GRCh38]
Chr3:45797708 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1643G>A single nucleotide variant Hyperglycinuria [RCV001146121] Chr3:45757335 [GRCh38]
Chr3:45798827 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.935+236T>C single nucleotide variant not provided [RCV001721609] Chr3:45770981 [GRCh38]
Chr3:45812473 [GRCh37]
Chr3:3p21.31		 benign
NM_020208.4(SLC6A20):c.694-75T>C single nucleotide variant not provided [RCV001721611] Chr3:45771533 [GRCh38]
Chr3:45813025 [GRCh37]
Chr3:3p21.31		 benign
NC_000003.12:g.45796686C>T single nucleotide variant not provided [RCV001676915] Chr3:45796686 [GRCh38]
Chr3:45838178 [GRCh37]
Chr3:3p21.31		 benign
NM_020208.4(SLC6A20):c.1058C>T (p.Pro353Leu) single nucleotide variant Hyperglycinuria [RCV001144464] Chr3:45770249 [GRCh38]
Chr3:45811741 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.132G>A (p.Leu44=) single nucleotide variant Hyperglycinuria [RCV001144583] Chr3:45782213 [GRCh38]
Chr3:45823705 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*3015T>C single nucleotide variant Hyperglycinuria [RCV001146006] Chr3:45755963 [GRCh38]
Chr3:45797455 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2898T>A single nucleotide variant Hyperglycinuria [RCV001146008] Chr3:45756080 [GRCh38]
Chr3:45797572 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2749G>A single nucleotide variant Hyperglycinuria [RCV001148792] Chr3:45756229 [GRCh38]
Chr3:45797721 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1351C>T single nucleotide variant Hyperglycinuria [RCV001148924] Chr3:45757627 [GRCh38]
Chr3:45799119 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*3320C>G single nucleotide variant Hyperglycinuria [RCV001144122] Chr3:45755658 [GRCh38]
Chr3:45797150 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1987G>A single nucleotide variant Hyperglycinuria [RCV001144231] Chr3:45756991 [GRCh38]
Chr3:45798483 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1824G>A single nucleotide variant Hyperglycinuria [RCV001144234] Chr3:45757154 [GRCh38]
Chr3:45798646 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.1464-44G>A single nucleotide variant not provided [RCV001594783] Chr3:45760066 [GRCh38]
Chr3:45801558 [GRCh37]
Chr3:3p21.31		 benign
NM_020208.4(SLC6A20):c.693+196T>G single nucleotide variant not provided [RCV001717887] Chr3:45772309 [GRCh38]
Chr3:45813801 [GRCh37]
Chr3:3p21.31		 benign
NM_020208.4(SLC6A20):c.1447G>A (p.Val483Met) single nucleotide variant Intellectual disability [RCV001263400] Chr3:45762929 [GRCh38]
Chr3:45804421 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.583-196A>G single nucleotide variant not provided [RCV001638415] Chr3:45772811 [GRCh38]
Chr3:45814303 [GRCh37]
Chr3:3p21.31		 benign
NM_020208.4(SLC6A20):c.1304-207C>A single nucleotide variant not provided [RCV001656448] Chr3:45763279 [GRCh38]
Chr3:45804771 [GRCh37]
Chr3:3p21.31		 benign
NM_020208.4(SLC6A20):c.936-101T>C single nucleotide variant not provided [RCV001638512] Chr3:45770472 [GRCh38]
Chr3:45811964 [GRCh37]
Chr3:3p21.31		 benign
NM_020208.4(SLC6A20):c.*2025G>A single nucleotide variant Hyperglycinuria [RCV001144230] Chr3:45756953 [GRCh38]
Chr3:45798445 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1904G>A single nucleotide variant Hyperglycinuria [RCV001144232] Chr3:45757074 [GRCh38]
Chr3:45798566 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.*636C>T single nucleotide variant Hyperglycinuria [RCV001144350] Chr3:45758342 [GRCh38]
Chr3:45799834 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1023C>T single nucleotide variant Hyperglycinuria [RCV001150446] Chr3:45757955 [GRCh38]
Chr3:45799447 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1017T>C single nucleotide variant Hyperglycinuria [RCV001150447] Chr3:45757961 [GRCh38]
Chr3:45799453 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1585A>G (p.Ile529Val) single nucleotide variant Hyperglycinuria [RCV001150550] Chr3:45759901 [GRCh38]
Chr3:45801393 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.1452C>T (p.Tyr484=) single nucleotide variant Hyperglycinuria [RCV001150552] Chr3:45762924 [GRCh38]
Chr3:45804416 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.935+59G>T single nucleotide variant not provided [RCV001679835] Chr3:45771158 [GRCh38]
Chr3:45812650 [GRCh37]
Chr3:3p21.31		 benign
NM_020208.4(SLC6A20):c.935+59G>A single nucleotide variant not provided [RCV001612508] Chr3:45771158 [GRCh38]
Chr3:45812650 [GRCh37]
Chr3:3p21.31		 benign
NM_020208.4(SLC6A20):c.935+195C>T single nucleotide variant not provided [RCV001681418] Chr3:45771022 [GRCh38]
Chr3:45812514 [GRCh37]
Chr3:3p21.31		 benign
NM_020208.4(SLC6A20):c.398C>T (p.Thr133Met) single nucleotide variant Hyperglycinuria [RCV001150676]|Hyperglycinuria [RCV002505727] Chr3:45775945 [GRCh38]
Chr3:45817437 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1257G>A single nucleotide variant Hyperglycinuria [RCV001150445] Chr3:45757721 [GRCh38]
Chr3:45799213 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1646A>G (p.Lys549Arg) single nucleotide variant Hyperglycinuria [RCV001150549]|Hyperglycinuria [RCV002483886] Chr3:45759111 [GRCh38]
Chr3:45800603 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2883C>T single nucleotide variant Hyperglycinuria [RCV001146009] Chr3:45756095 [GRCh38]
Chr3:45797587 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*140G>T single nucleotide variant Hyperglycinuria [RCV001146252] Chr3:45758838 [GRCh38]
Chr3:45800330 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.-63C>A single nucleotide variant Hyperglycinuria [RCV001146510] Chr3:45796482 [GRCh38]
Chr3:45837974 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.-76G>T single nucleotide variant Hyperglycinuria [RCV001147629] Chr3:45796495 [GRCh38]
Chr3:45837987 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*3342A>T single nucleotide variant Hyperglycinuria [RCV001144121] Chr3:45755636 [GRCh38]
Chr3:45797128 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1891C>G single nucleotide variant Hyperglycinuria [RCV001144233] Chr3:45757087 [GRCh38]
Chr3:45798579 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1006G>A (p.Val336Met) single nucleotide variant Hyperglycinuria [RCV001144465] Chr3:45770301 [GRCh38]
Chr3:45811793 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*697G>A single nucleotide variant Hyperglycinuria [RCV001144349] Chr3:45758281 [GRCh38]
Chr3:45799773 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.171G>A (p.Pro57=) single nucleotide variant Hyperglycinuria [RCV001144581] Chr3:45782174 [GRCh38]
Chr3:45823666 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.*3051A>T single nucleotide variant Hyperglycinuria [RCV001146005] Chr3:45755927 [GRCh38]
Chr3:45797419 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2833C>T single nucleotide variant Hyperglycinuria [RCV001146010] Chr3:45756145 [GRCh38]
Chr3:45797637 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2263C>T single nucleotide variant Hyperglycinuria [RCV001150318] Chr3:45756715 [GRCh38]
Chr3:45798207 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2243C>G single nucleotide variant Hyperglycinuria [RCV001150319] Chr3:45756735 [GRCh38]
Chr3:45798227 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.694-15C>T single nucleotide variant Hyperglycinuria [RCV001146379] Chr3:45771473 [GRCh38]
Chr3:45812965 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.74T>C (p.Leu25Pro) single nucleotide variant Hyperglycinuria [RCV001146509]|Hyperglycinuria [RCV002505723] Chr3:45796346 [GRCh38]
Chr3:45837838 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*1269G>A single nucleotide variant Hyperglycinuria [RCV001150444] Chr3:45757709 [GRCh38]
Chr3:45799201 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*19G>A single nucleotide variant Hyperglycinuria [RCV001149041] Chr3:45758959 [GRCh38]
Chr3:45800451 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1744C>T (p.Arg582Cys) single nucleotide variant Hyperglycinuria [RCV001149042]|Hyperglycinuria [RCV002497568] Chr3:45759013 [GRCh38]
Chr3:45800505 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.*2557A>C single nucleotide variant Hyperglycinuria [RCV001254017] Chr3:45756421 [GRCh38]
Chr3:45797913 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.86G>A (p.Trp29Ter) single nucleotide variant Hyperglycinuria [RCV001334063] Chr3:45796334 [GRCh38]
Chr3:45837826 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_020208.4(SLC6A20):c.231G>A (p.Trp77Ter) single nucleotide variant Hyperglycinuria [RCV001334062] Chr3:45782114 [GRCh38]
Chr3:45823606 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_020208.4(SLC6A20):c.1601T>G (p.Leu534Arg) single nucleotide variant Hyperglycinuria [RCV002499721]|not provided [RCV001358099] Chr3:45759885 [GRCh38]
Chr3:45801377 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1A>G (p.Met1Val) single nucleotide variant Hyperglycinuria [RCV002499715]|not provided [RCV001356723] Chr3:45796419 [GRCh38]
Chr3:45837911 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.560G>A (p.Arg187His) single nucleotide variant not provided [RCV001357995] Chr3:45775783 [GRCh38]
Chr3:45817275 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.263-95G>A single nucleotide variant not provided [RCV001690566] Chr3:45780195 [GRCh38]
Chr3:45821687 [GRCh37]
Chr3:3p21.31		 benign
NM_020208.4(SLC6A20):c.263-32A>G single nucleotide variant Hyperglycinuria [RCV001810128]|not provided [RCV001611555] Chr3:45780132 [GRCh38]
Chr3:45821624 [GRCh37]
Chr3:3p21.31		 benign
NC_000003.11:g.(?_45435946)_(49137751_?)dup duplication Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003116297] Chr3:45435946..49137751 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1 copy number loss not provided [RCV002279744] Chr3:44948482..49115809 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_020208.4(SLC6A20):c.1469A>C (p.Glu490Ala) single nucleotide variant Inborn genetic diseases [RCV002836966] Chr3:45760017 [GRCh38]
Chr3:45801509 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1673T>C (p.Val558Ala) single nucleotide variant Inborn genetic diseases [RCV002992031] Chr3:45759084 [GRCh38]
Chr3:45800576 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1571A>C (p.Tyr524Ser) single nucleotide variant Inborn genetic diseases [RCV002776936] Chr3:45759915 [GRCh38]
Chr3:45801407 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.616G>A (p.Val206Met) single nucleotide variant Inborn genetic diseases [RCV002753960] Chr3:45772582 [GRCh38]
Chr3:45814074 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1412T>C (p.Leu471Pro) single nucleotide variant Inborn genetic diseases [RCV002772575] Chr3:45762964 [GRCh38]
Chr3:45804456 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.220A>G (p.Ile74Val) single nucleotide variant Inborn genetic diseases [RCV002696357] Chr3:45782125 [GRCh38]
Chr3:45823617 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1061A>T (p.Gln354Leu) single nucleotide variant Inborn genetic diseases [RCV002924731] Chr3:45770246 [GRCh38]
Chr3:45811738 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.932A>G (p.Lys311Arg) single nucleotide variant Inborn genetic diseases [RCV002950425] Chr3:45771220 [GRCh38]
Chr3:45812712 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.791G>T (p.Ser264Ile) single nucleotide variant Inborn genetic diseases [RCV002742692] Chr3:45771361 [GRCh38]
Chr3:45812853 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.406G>A (p.Asp136Asn) single nucleotide variant Inborn genetic diseases [RCV002789437] Chr3:45775937 [GRCh38]
Chr3:45817429 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1430C>T (p.Thr477Met) single nucleotide variant Inborn genetic diseases [RCV002955801] Chr3:45762946 [GRCh38]
Chr3:45804438 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.139T>C (p.Tyr47His) single nucleotide variant Inborn genetic diseases [RCV002803068] Chr3:45782206 [GRCh38]
Chr3:45823698 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.422A>G (p.Lys141Arg) single nucleotide variant Inborn genetic diseases [RCV002792615] Chr3:45775921 [GRCh38]
Chr3:45817413 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1414A>G (p.Ile472Val) single nucleotide variant Inborn genetic diseases [RCV002897640] Chr3:45762962 [GRCh38]
Chr3:45804454 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1048G>A (p.Glu350Lys) single nucleotide variant Inborn genetic diseases [RCV002961780] Chr3:45770259 [GRCh38]
Chr3:45811751 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.124A>C (p.Ser42Arg) single nucleotide variant Inborn genetic diseases [RCV002989216] Chr3:45782221 [GRCh38]
Chr3:45823713 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.914A>G (p.Asn305Ser) single nucleotide variant Inborn genetic diseases [RCV002668269] Chr3:45771238 [GRCh38]
Chr3:45812730 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1567T>A (p.Phe523Ile) single nucleotide variant Inborn genetic diseases [RCV002961003] Chr3:45759919 [GRCh38]
Chr3:45801411 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1162T>A (p.Ser388Thr) single nucleotide variant Inborn genetic diseases [RCV002669396] Chr3:45765678 [GRCh38]
Chr3:45807170 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1655C>T (p.Pro552Leu) single nucleotide variant Inborn genetic diseases [RCV002679904] Chr3:45759102 [GRCh38]
Chr3:45800594 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.80A>T (p.Asn27Ile) single nucleotide variant Inborn genetic diseases [RCV003206174] Chr3:45796340 [GRCh38]
Chr3:45837832 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1438G>A (p.Val480Met) single nucleotide variant Inborn genetic diseases [RCV003196700] Chr3:45762938 [GRCh38]
Chr3:45804430 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.209G>A (p.Arg70Gln) single nucleotide variant Inborn genetic diseases [RCV003206826] Chr3:45782136 [GRCh38]
Chr3:45823628 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1416C>G (p.Ile472Met) single nucleotide variant Inborn genetic diseases [RCV003173350] Chr3:45762960 [GRCh38]
Chr3:45804452 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1076G>A (p.Ser359Asn) single nucleotide variant Inborn genetic diseases [RCV003205182] Chr3:45770231 [GRCh38]
Chr3:45811723 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.1541C>T (p.Pro514Leu) single nucleotide variant Inborn genetic diseases [RCV003377282] Chr3:45759945 [GRCh38]
Chr3:45801437 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_020208.4(SLC6A20):c.10G>A (p.Ala4Thr) single nucleotide variant Inborn genetic diseases [RCV003378085] Chr3:45796410 [GRCh38]
Chr3:45837902 [GRCh37]
Chr3:3p21.31		 likely benign
NM_020208.4(SLC6A20):c.1372G>C (p.Asp458His) single nucleotide variant Inborn genetic diseases [RCV003355212] Chr3:45763004 [GRCh38]
Chr3:45804496 [GRCh37]
Chr3:3p21.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3787
Count of miRNA genes:1073
Interacting mature miRNAs:1305
Transcripts:ENST00000353278, ENST00000358525, ENST00000413781, ENST00000456124, ENST00000470226, ENST00000473146, ENST00000493980
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D3S4405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37345,824,531 - 45,824,819UniSTSGRCh37
Build 36345,799,535 - 45,799,823RGDNCBI36
Celera345,762,135 - 45,762,423RGD
Cytogenetic Map3p21.3UniSTS
HuRef345,868,528 - 45,868,816UniSTS


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
High
Medium 181 15 3 92 4 340 364 33 34 40 1 340
Low 578 18 305 139 113 25 981 492 1138 183 581 437 118 1 120 724
Below cutoff 1615 2217 1262 379 1164 335 2769 1518 2200 156 766 1087 54 990 1527 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC098476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF075260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ276207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ276208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ289880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL389979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR006419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EL949345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000353278   ⟹   ENSP00000296133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl345,755,450 - 45,796,470 (-)Ensembl
RefSeq Acc Id: ENST00000358525   ⟹   ENSP00000346298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl345,755,449 - 45,796,536 (-)Ensembl
RefSeq Acc Id: ENST00000413781   ⟹   ENSP00000395506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl345,771,217 - 45,796,535 (-)Ensembl
RefSeq Acc Id: ENST00000456124   ⟹   ENSP00000404310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl345,756,004 - 45,796,483 (-)Ensembl
RefSeq Acc Id: ENST00000470226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl345,790,301 - 45,796,360 (-)Ensembl
RefSeq Acc Id: ENST00000473146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl345,758,504 - 45,772,339 (-)Ensembl
RefSeq Acc Id: ENST00000493980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl345,759,980 - 45,765,770 (-)Ensembl
RefSeq Acc Id: ENST00000703343   ⟹   ENSP00000515266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl345,757,945 - 45,796,574 (-)Ensembl
RefSeq Acc Id: ENST00000703344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl345,773,329 - 45,796,491 (-)Ensembl
RefSeq Acc Id: NM_001385683   ⟹   NP_001372612
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38345,755,449 - 45,796,536 (-)NCBI
T2T-CHM13v2.0345,771,093 - 45,812,175 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001406066   ⟹   NP_001392995
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38345,755,449 - 45,796,536 (-)NCBI
T2T-CHM13v2.0345,771,093 - 45,812,175 (-)NCBI
RefSeq Acc Id: NM_001406067   ⟹   NP_001392996
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38345,755,449 - 45,796,536 (-)NCBI
T2T-CHM13v2.0345,771,093 - 45,812,175 (-)NCBI
RefSeq Acc Id: NM_001406069   ⟹   NP_001392998
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38345,755,449 - 45,796,536 (-)NCBI
T2T-CHM13v2.0345,771,093 - 45,812,175 (-)NCBI
RefSeq Acc Id: NM_020208   ⟹   NP_064593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38345,755,449 - 45,796,536 (-)NCBI
GRCh37345,796,941 - 45,838,039 (-)NCBI
Build 36345,771,946 - 45,812,966 (-)NCBI Archive
Celera345,734,543 - 45,775,644 (-)RGD
HuRef345,840,974 - 45,881,992 (-)ENTREZGENE
CHM1_1345,746,576 - 45,787,673 (-)NCBI
T2T-CHM13v2.0345,771,093 - 45,812,175 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022405   ⟹   NP_071800
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38345,755,449 - 45,796,536 (-)NCBI
GRCh37345,796,941 - 45,838,039 (-)NCBI
Build 36345,771,946 - 45,812,966 (-)NCBI Archive
Celera345,734,543 - 45,775,644 (-)RGD
HuRef345,840,974 - 45,881,992 (-)ENTREZGENE
CHM1_1345,746,576 - 45,787,673 (-)NCBI
T2T-CHM13v2.0345,771,093 - 45,812,175 (-)NCBI
Sequence:
RefSeq Acc Id: NR_176011
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38345,755,449 - 45,796,536 (-)NCBI
T2T-CHM13v2.0345,771,093 - 45,812,175 (-)NCBI
RefSeq Acc Id: NR_176012
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38345,755,449 - 45,796,536 (-)NCBI
T2T-CHM13v2.0345,771,093 - 45,812,175 (-)NCBI
RefSeq Acc Id: XM_011533847   ⟹   XP_011532149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38345,755,449 - 45,781,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054346951   ⟹   XP_054202926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0345,771,093 - 45,796,731 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_071800   ⟸   NM_022405
- Peptide Label: isoform 2
- UniProtKB: Q9NP91 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_064593   ⟸   NM_020208
- Peptide Label: isoform 1
- UniProtKB: Q9NPQ2 (UniProtKB/Swiss-Prot),   Q8TF10 (UniProtKB/Swiss-Prot),   O75590 (UniProtKB/Swiss-Prot),   A1A4F2 (UniProtKB/Swiss-Prot),   Q9NQ77 (UniProtKB/Swiss-Prot),   Q9NP91 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011532149   ⟸   XM_011533847
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000395506   ⟸   ENST00000413781
RefSeq Acc Id: ENSP00000404310   ⟸   ENST00000456124
RefSeq Acc Id: ENSP00000296133   ⟸   ENST00000353278
RefSeq Acc Id: ENSP00000346298   ⟸   ENST00000358525
RefSeq Acc Id: NP_001372612   ⟸   NM_001385683
- Peptide Label: isoform 3
- UniProtKB: A0A8V8TQV4 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000515266   ⟸   ENST00000703343
RefSeq Acc Id: NP_001392996   ⟸   NM_001406067
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001392998   ⟸   NM_001406069
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001392995   ⟸   NM_001406066
- Peptide Label: isoform 4
- UniProtKB: B7ZLW4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202926   ⟸   XM_054346951
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NP91-F1-model_v2 AlphaFold Q9NP91 1-592 view protein structure

Promoters
RGD ID:6864166
Promoter ID:EPDNEW_H5248
Type:initiation region
Name:SLC6A20_1
Description:solute carrier family 6 member 20
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38345,796,536 - 45,796,596EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30927 AgrOrtholog
COSMIC SLC6A20 COSMIC
Ensembl Genes ENSG00000163817 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000353278 ENTREZGENE
  ENST00000353278.8 UniProtKB/Swiss-Prot
  ENST00000358525 ENTREZGENE
  ENST00000358525.9 UniProtKB/Swiss-Prot
  ENST00000703343 ENTREZGENE
  ENST00000703343.1 UniProtKB/TrEMBL
GTEx ENSG00000163817 GTEx
HGNC ID HGNC:30927 ENTREZGENE
Human Proteome Map SLC6A20 Human Proteome Map
InterPro Na/ntran_symport UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neutral_aa_SLC6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54716 UniProtKB/Swiss-Prot
NCBI Gene 54716 ENTREZGENE
OMIM 605616 OMIM
PANTHER PTHR11616 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SODIUM- AND CHLORIDE-DEPENDENT TRANSPORTER XTRP3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134865308 PharmGKB
PRINTS NANEUSMPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ORPHTRNSPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NA_NEUROTRAN_SYMP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA_NEUROTRAN_SYMP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA_NEUROTRAN_SYMP_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
Superfamily-SCOP SSF161070 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8V8TQV4 ENTREZGENE, UniProtKB/TrEMBL
  A1A4F2 ENTREZGENE
  B7ZLW4 ENTREZGENE, UniProtKB/TrEMBL
  O75590 ENTREZGENE
  Q8TF10 ENTREZGENE
  Q9NP91 ENTREZGENE
  Q9NPQ2 ENTREZGENE
  Q9NQ77 ENTREZGENE
  S6A20_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A1A4F2 UniProtKB/Swiss-Prot
  O75590 UniProtKB/Swiss-Prot
  Q8TF10 UniProtKB/Swiss-Prot
  Q9NPQ2 UniProtKB/Swiss-Prot
  Q9NQ77 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC6A20  solute carrier family 6 member 20  SLC6A20  solute carrier family 6 (proline IMINO transporter), member 20  Symbol and/or name change 5135510 APPROVED