SLC44A4 (solute carrier family 44 member 4) - Rat Genome Database

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Gene: SLC44A4 (solute carrier family 44 member 4) Homo sapiens
Analyze
Symbol: SLC44A4
Name: solute carrier family 44 member 4
RGD ID: 1349303
HGNC Page HGNC:13941
Description: Enables choline transmembrane transporter activity and thiamine pyrophosphate transmembrane transporter activity. Involved in several processes, including acetylcholine biosynthetic process; acetylcholine secretion; and choline transport. Located in apical plasma membrane. Implicated in autosomal dominant nonsyndromic deafness 72.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C6orf29; choline transporter-like protein 4; chromosome 6 open reading frame 29; CTL4; DFNA72; FLJ14491; hTPPT1; NG22; solute carrier family 44, member 4; testicular tissue protein Li 48; thiamine pyrophosphate transporter; thiamine pyrophosphate transporter 1; TPPT
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38631,863,192 - 31,878,997 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl631,863,192 - 31,879,046 (-)EnsemblGRCh38hg38GRCh38
GRCh37631,830,969 - 31,846,774 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36631,938,948 - 31,954,802 (-)NCBINCBI36Build 36hg18NCBI36
Build 34631,938,953 - 31,954,753NCBI
Celera633,429,555 - 33,445,404 (-)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef631,616,782 - 31,632,627 (-)NCBIHuRef
CHM1_1631,833,110 - 31,848,964 (-)NCBICHM1_1
T2T-CHM13v2.0631,716,432 - 31,732,232 (-)NCBIT2T-CHM13v2.0
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
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
amiodarone  (ISO)
aristolochic acid A  (EXP)
asbestos  (EXP)
Azoxymethane  (ISO)
Benzo[ghi]perylene  (ISO)
beta-lapachone  (EXP)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
butan-1-ol  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
CGP 52608  (EXP)
chlordecone  (ISO)
chloropicrin  (EXP)
choline  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
desferrioxamine B  (EXP)
dextran sulfate  (ISO)
diethyl maleate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
folic acid  (ISO)
fonofos  (EXP)
furan  (ISO)
genistein  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
L-methionine  (ISO)
Licochalcone B  (EXP)
menadione  (EXP)
N(4)-hydroxycytidine  (ISO)
N-nitrosodiethylamine  (ISO)
p-toluidine  (ISO)
parathion  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
resveratrol  (EXP)
selenium atom  (EXP)
sodium arsenite  (ISO)
sulforaphane  (ISO)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
urethane  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins. O'Regan S, etal., Proc Natl Acad Sci U S A 2000 Feb 15;97(4):1835-40.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:12067718   PMID:12477932   PMID:12975309   PMID:14574404   PMID:14656967   PMID:14702039   PMID:15489334   PMID:15715662   PMID:16344560   PMID:19056867   PMID:19448619  
PMID:19851445   PMID:20421499   PMID:20466734   PMID:20526339   PMID:21873635   PMID:22789125   PMID:23376485   PMID:23533145   PMID:23651124   PMID:24379411   PMID:24837172   PMID:25715703  
PMID:26741288   PMID:26828122   PMID:26901654   PMID:27759029   PMID:28013291   PMID:28753073   PMID:30021884   PMID:32513696   PMID:38713615  


Genomics

Comparative Map Data
SLC44A4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38631,863,192 - 31,878,997 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl631,863,192 - 31,879,046 (-)EnsemblGRCh38hg38GRCh38
GRCh37631,830,969 - 31,846,774 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36631,938,948 - 31,954,802 (-)NCBINCBI36Build 36hg18NCBI36
Build 34631,938,953 - 31,954,753NCBI
Celera633,429,555 - 33,445,404 (-)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef631,616,782 - 31,632,627 (-)NCBIHuRef
CHM1_1631,833,110 - 31,848,964 (-)NCBICHM1_1
T2T-CHM13v2.0631,716,432 - 31,732,232 (-)NCBIT2T-CHM13v2.0
Slc44a4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391735,133,200 - 35,149,412 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1735,133,442 - 35,149,412 (+)EnsemblGRCm39 Ensembl
GRCm381734,914,224 - 34,930,436 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1734,914,466 - 34,930,436 (+)EnsemblGRCm38mm10GRCm38
MGSCv371735,051,411 - 35,067,381 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361734,522,536 - 34,538,412 (+)NCBIMGSCv36mm8
Celera1738,010,698 - 38,026,669 (+)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1718.46NCBI
Slc44a4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8203,907,737 - 3,923,911 (-)NCBIGRCr8
mRatBN7.2203,903,099 - 3,919,215 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl203,903,099 - 3,919,215 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx204,603,033 - 4,619,120 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0203,964,775 - 3,980,862 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0204,501,983 - 4,518,066 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0204,593,389 - 4,609,641 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl204,593,389 - 4,609,631 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0206,673,376 - 6,689,628 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4204,005,154 - 4,021,270 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1204,005,380 - 4,021,497 (-)NCBI
Celera204,110,301 - 4,126,373 (+)NCBICelera
Cytogenetic Map20p12NCBI
Slc44a4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955437383,271 - 397,217 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955437383,523 - 396,456 (-)NCBIChiLan1.0ChiLan1.0
SLC44A4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2546,342,553 - 46,354,982 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1642,303,767 - 42,316,468 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0631,526,660 - 31,542,165 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1632,413,441 - 32,428,550 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl632,413,441 - 32,428,550 (-)Ensemblpanpan1.1panPan2
SLC44A4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1121,328,276 - 1,340,752 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl121,328,399 - 1,340,778 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha121,463,542 - 1,476,028 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0121,470,452 - 1,482,939 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl121,466,890 - 1,483,011 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1121,328,172 - 1,340,646 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0121,396,104 - 1,408,588 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0121,461,326 - 1,474,043 (-)NCBIUU_Cfam_GSD_1.0
Slc44a4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494635,878,349 - 35,897,867 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367271,663,747 - 1,682,941 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367271,663,593 - 1,683,061 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC44A4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl723,958,942 - 23,977,482 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1723,958,935 - 23,977,466 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2727,834,744 - 27,853,364 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC44A4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11740,142,349 - 40,158,024 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1740,142,730 - 40,157,858 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604431,777,498 - 31,794,091 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc44a4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475424,368,716 - 24,382,397 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475424,368,697 - 24,381,959 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC44A4
242 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_025257.2(SLC44A4):c.1583G>A (p.Gly528Glu) single nucleotide variant Malignant melanoma [RCV000067292] Chr6:31865601 [GRCh38]
Chr6:31833378 [GRCh37]
Chr6:31941357 [NCBI36]
Chr6:6p21.33
not provided
NM_025257.2(SLC44A4):c.1250C>T (p.Ser417Phe) single nucleotide variant Malignant melanoma [RCV000067293] Chr6:31866110 [GRCh38]
Chr6:31833887 [GRCh37]
Chr6:31941866 [NCBI36]
Chr6:6p21.33
not provided
NM_025257.3(SLC44A4):c.1763_1764del (p.Val588fs) deletion Deafness, autosomal dominant 72 [RCV001333261] Chr6:31865077..31865078 [GRCh38]
Chr6:31832854..31832855 [GRCh37]
Chr6:6p21.33
pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_025257.3(SLC44A4):c.33G>T (p.Glu11Asp) single nucleotide variant not specified [RCV004319457] Chr6:31878948 [GRCh38]
Chr6:31846725 [GRCh37]
Chr6:6p21.33
uncertain significance
GRCh37/hg19 6p21.33(chr6:31777500-31831302)x1 copy number loss See cases [RCV000449096] Chr6:31777500..31831302 [GRCh37]
Chr6:6p21.33
likely benign
GRCh37/hg19 6p21.33(chr6:31384577-31902308)x3 copy number gain See cases [RCV000448679] Chr6:31384577..31902308 [GRCh37]
Chr6:6p21.33
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_025257.3(SLC44A4):c.466A>G (p.Met156Val) single nucleotide variant Hearing loss, autosomal dominant 72 [RCV000496999] Chr6:31874723 [GRCh38]
Chr6:31842500 [GRCh37]
Chr6:6p21.33
pathogenic|no classifications from unflagged records
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_025257.3(SLC44A4):c.344T>C (p.Val115Ala) single nucleotide variant not specified [RCV004683767] Chr6:31874845 [GRCh38]
Chr6:31842622 [GRCh37]
Chr6:6p21.33
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3 copy number gain not provided [RCV000745592] Chr6:28130359..32108367 [GRCh37]
Chr6:6p22.1-21.32
uncertain significance
NM_025257.3(SLC44A4):c.1038-48A>G single nucleotide variant not provided [RCV001644422] Chr6:31869685 [GRCh38]
Chr6:31837462 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.530-156G>A single nucleotide variant not provided [RCV001667270] Chr6:31871717 [GRCh38]
Chr6:31839494 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.1130+72C>T single nucleotide variant not provided [RCV001691277] Chr6:31869473 [GRCh38]
Chr6:31837250 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.813C>T (p.Tyr271=) single nucleotide variant Hearing loss, autosomal dominant 72 [RCV001810254]|not provided [RCV001693306] Chr6:31870936 [GRCh38]
Chr6:31838713 [GRCh37]
Chr6:6p21.33
benign
NC_000006.12:g.31879235C>A single nucleotide variant not provided [RCV001691765] Chr6:31879235 [GRCh38]
Chr6:31847012 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.90-18G>A single nucleotide variant not provided [RCV001665088] Chr6:31876147 [GRCh38]
Chr6:31843924 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.243-54C>G single nucleotide variant not provided [RCV001668722] Chr6:31875082 [GRCh38]
Chr6:31842859 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.1156C>G (p.Gln386Glu) single nucleotide variant not provided [RCV000965206] Chr6:31869232 [GRCh38]
Chr6:31837009 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.1487+8T>C single nucleotide variant not provided [RCV000922438] Chr6:31865865 [GRCh38]
Chr6:31833642 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.435G>C (p.Arg145Ser) single nucleotide variant not provided [RCV000949291] Chr6:31874754 [GRCh38]
Chr6:31842531 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.431A>G (p.Asn144Ser) single nucleotide variant not provided [RCV000949292] Chr6:31874758 [GRCh38]
Chr6:31842535 [GRCh37]
Chr6:6p21.33
benign
GRCh37/hg19 6p21.33(chr6:31824828-31834398) copy number loss Sialidosis type 2 [RCV001089960] Chr6:31824828..31834398 [GRCh37]
Chr6:6p21.33
pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_025257.3(SLC44A4):c.523G>A (p.Ala175Thr) single nucleotide variant not provided [RCV003104973]|not specified [RCV004673832] Chr6:31874466 [GRCh38]
Chr6:31842243 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.644G>A (p.Arg215Gln) single nucleotide variant SLC44A4-related disorder [RCV004756489]|not provided [RCV003104405]|not specified [RCV004857957] Chr6:31871371 [GRCh38]
Chr6:31839148 [GRCh37]
Chr6:6p21.33
uncertain significance
NC_000006.11:g.(?_30695893)_(31937492_?)dup duplication not provided [RCV003107453] Chr6:30695893..31937492 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.451G>A (p.Gly151Arg) single nucleotide variant not specified [RCV004324675] Chr6:31874738 [GRCh38]
Chr6:31842515 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1189C>T (p.Pro397Ser) single nucleotide variant not provided [RCV001597797] Chr6:31869199 [GRCh38]
Chr6:31836976 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.41-139C>T single nucleotide variant not provided [RCV001654662] Chr6:31877221 [GRCh38]
Chr6:31844998 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.89+127T>C single nucleotide variant not provided [RCV001594610] Chr6:31876907 [GRCh38]
Chr6:31844684 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.2011+58dup duplication not provided [RCV001684107] Chr6:31864579..31864580 [GRCh38]
Chr6:31832356..31832357 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.1785A>G (p.Thr595=) single nucleotide variant not provided [RCV000978369] Chr6:31865056 [GRCh38]
Chr6:31832833 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.937+1G>A single nucleotide variant not provided [RCV000907500] Chr6:31870811 [GRCh38]
Chr6:31838588 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1131-32G>A single nucleotide variant not provided [RCV001656750] Chr6:31869289 [GRCh38]
Chr6:31837066 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.90-92C>T single nucleotide variant not provided [RCV001682074] Chr6:31876221 [GRCh38]
Chr6:31843998 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.368A>T (p.Asp123Val) single nucleotide variant not provided [RCV001676462] Chr6:31874821 [GRCh38]
Chr6:31842598 [GRCh37]
Chr6:6p21.33
benign
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3 copy number gain not provided [RCV001005791] Chr6:31036397..34088832 [GRCh37]
Chr6:6p21.33-21.31
likely pathogenic
NM_025257.3(SLC44A4):c.2011+115C>T single nucleotide variant not provided [RCV001615652] Chr6:31864537 [GRCh38]
Chr6:31832314 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.559G>A (p.Val187Ile) single nucleotide variant Hearing loss, autosomal dominant 72 [RCV001810117]|not provided [RCV001608352] Chr6:31871532 [GRCh38]
Chr6:31839309 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.1130+45G>T single nucleotide variant Hearing loss, autosomal dominant 72 [RCV001810160]|not provided [RCV001637322] Chr6:31869500 [GRCh38]
Chr6:31837277 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.937+44C>T single nucleotide variant Hearing loss, autosomal dominant 72 [RCV001810174]|not provided [RCV001641338] Chr6:31870768 [GRCh38]
Chr6:31838545 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.976A>G (p.Met326Val) single nucleotide variant Hearing loss, autosomal dominant 72 [RCV001810136]|not provided [RCV001616767] Chr6:31870664 [GRCh38]
Chr6:31838441 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.1038-77T>C single nucleotide variant not provided [RCV001658419] Chr6:31869714 [GRCh38]
Chr6:31837491 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.1233+105A>C single nucleotide variant not provided [RCV001658449] Chr6:31869050 [GRCh38]
Chr6:31836827 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.702-116G>A single nucleotide variant not provided [RCV001620419] Chr6:31871163 [GRCh38]
Chr6:31838940 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.537G>A (p.Gly179=) single nucleotide variant Hearing loss, autosomal dominant 72 [RCV001810289]|not provided [RCV001716526] Chr6:31871554 [GRCh38]
Chr6:31839331 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.2011+72del deletion not provided [RCV001645745] Chr6:31864580 [GRCh38]
Chr6:31832357 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.90-20C>T single nucleotide variant not provided [RCV001669502] Chr6:31876149 [GRCh38]
Chr6:31843926 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.997C>T (p.Arg333Trp) single nucleotide variant Hearing loss, autosomal dominant 72 [RCV001329415]|not provided [RCV003770816]|not specified [RCV004035673] Chr6:31870643 [GRCh38]
Chr6:31838420 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1038-89G>C single nucleotide variant not provided [RCV001694793] Chr6:31869726 [GRCh38]
Chr6:31837503 [GRCh37]
Chr6:6p21.33
benign
NC_000006.12:g.31879123G>A single nucleotide variant not provided [RCV001683798] Chr6:31879123 [GRCh38]
Chr6:31846900 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.938-11G>A single nucleotide variant Hearing loss, autosomal dominant 72 [RCV001810206]|not provided [RCV001671018] Chr6:31870713 [GRCh38]
Chr6:31838490 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.17G>T (p.Arg6Leu) single nucleotide variant not provided [RCV001696650] Chr6:31878964 [GRCh38]
Chr6:31846741 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.309T>G (p.Val103=) single nucleotide variant not provided [RCV003104974] Chr6:31874962 [GRCh38]
Chr6:31842739 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.1004G>A (p.Arg335His) single nucleotide variant not provided [RCV003108809]|not specified [RCV004244568] Chr6:31870636 [GRCh38]
Chr6:31838413 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.702-17C>A single nucleotide variant not specified [RCV004800792] Chr6:31871064 [GRCh38]
Chr6:31838841 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.37T>C (p.Tyr13His) single nucleotide variant not provided [RCV001814906] Chr6:31878944 [GRCh38]
Chr6:31846721 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1927-16G>A single nucleotide variant not provided [RCV002045741] Chr6:31864752 [GRCh38]
Chr6:31832529 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1972G>A (p.Val658Ile) single nucleotide variant not provided [RCV001896935] Chr6:31864691 [GRCh38]
Chr6:31832468 [GRCh37]
Chr6:6p21.33
uncertain significance
GRCh37/hg19 6p21.33(chr6:31384577-31902308) copy number gain not specified [RCV002053564] Chr6:31384577..31902308 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1513G>A (p.Gly505Arg) single nucleotide variant not provided [RCV001988465] Chr6:31865759 [GRCh38]
Chr6:31833536 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1852T>C (p.Phe618Leu) single nucleotide variant not provided [RCV001864194]|not specified [RCV004857820] Chr6:31864890 [GRCh38]
Chr6:31832667 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1411_1412delinsGT (p.Ser471Val) indel not provided [RCV001874429] Chr6:31865948..31865949 [GRCh38]
Chr6:31833725..31833726 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1487G>A (p.Arg496His) single nucleotide variant not provided [RCV001872530] Chr6:31865873 [GRCh38]
Chr6:31833650 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.158T>C (p.Ile53Thr) single nucleotide variant not provided [RCV002021956] Chr6:31876061 [GRCh38]
Chr6:31843838 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.471G>A (p.Thr157=) single nucleotide variant not provided [RCV001909465] Chr6:31874518 [GRCh38]
Chr6:31842295 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.936C>T (p.Ala312=) single nucleotide variant not provided [RCV002049019] Chr6:31870813 [GRCh38]
Chr6:31838590 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1690G>A (p.Ala564Thr) single nucleotide variant not provided [RCV001878672] Chr6:31865385 [GRCh38]
Chr6:31833162 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1649A>C (p.Lys550Thr) single nucleotide variant not provided [RCV001933911] Chr6:31865535 [GRCh38]
Chr6:31833312 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1390G>A (p.Val464Ile) single nucleotide variant not provided [RCV001936268] Chr6:31865970 [GRCh38]
Chr6:31833747 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.526C>T (p.Pro176Ser) single nucleotide variant not provided [RCV002010825] Chr6:31874463 [GRCh38]
Chr6:31842240 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.617+1G>A single nucleotide variant not provided [RCV001923089] Chr6:31871473 [GRCh38]
Chr6:31839250 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.553A>G (p.Thr185Ala) single nucleotide variant not provided [RCV001867726] Chr6:31871538 [GRCh38]
Chr6:31839315 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.22G>A (p.Glu8Lys) single nucleotide variant not provided [RCV001867728]|not specified [RCV003987922] Chr6:31878959 [GRCh38]
Chr6:31846736 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.676G>A (p.Ala226Thr) single nucleotide variant not provided [RCV002033972] Chr6:31871339 [GRCh38]
Chr6:31839116 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.908A>T (p.Gln303Leu) single nucleotide variant not provided [RCV001973011] Chr6:31870841 [GRCh38]
Chr6:31838618 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.380T>C (p.Val127Ala) single nucleotide variant not provided [RCV002029744] Chr6:31874809 [GRCh38]
Chr6:31842586 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.40+10G>C single nucleotide variant not provided [RCV002146486] Chr6:31878931 [GRCh38]
Chr6:31846708 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1582+14C>T single nucleotide variant not provided [RCV002129817] Chr6:31865676 [GRCh38]
Chr6:31833453 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.1545C>T (p.Ala515=) single nucleotide variant not provided [RCV002209152] Chr6:31865727 [GRCh38]
Chr6:31833504 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_025257.3(SLC44A4):c.164-4G>A single nucleotide variant not provided [RCV002144814] Chr6:31875934 [GRCh38]
Chr6:31843711 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.606G>A (p.Gln202=) single nucleotide variant not provided [RCV002169842] Chr6:31871485 [GRCh38]
Chr6:31839262 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1130+16G>A single nucleotide variant not provided [RCV002191734] Chr6:31869529 [GRCh38]
Chr6:31837306 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.937+9C>T single nucleotide variant SLC44A4-related disorder [RCV003923713]|not provided [RCV002091651] Chr6:31870803 [GRCh38]
Chr6:31838580 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.822C>T (p.Tyr274=) single nucleotide variant not provided [RCV002174786] Chr6:31870927 [GRCh38]
Chr6:31838704 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1842CTT[1] (p.Phe618del) microsatellite not provided [RCV002117240] Chr6:31864895..31864897 [GRCh38]
Chr6:31832672..31832674 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.766C>A (p.Pro256Thr) single nucleotide variant not provided [RCV002149175] Chr6:31870983 [GRCh38]
Chr6:31838760 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.1760+19dup duplication not provided [RCV002097456] Chr6:31865295..31865296 [GRCh38]
Chr6:31833072..31833073 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.2011+11C>A single nucleotide variant not provided [RCV002116575] Chr6:31864641 [GRCh38]
Chr6:31832418 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.942C>T (p.Ile314=) single nucleotide variant not provided [RCV002096368] Chr6:31870698 [GRCh38]
Chr6:31838475 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.555C>A (p.Thr185=) single nucleotide variant not provided [RCV002195225] Chr6:31871536 [GRCh38]
Chr6:31839313 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1760+19C>T single nucleotide variant not provided [RCV002171959] Chr6:31865296 [GRCh38]
Chr6:31833073 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.252G>A (p.Pro84=) single nucleotide variant not provided [RCV002149218] Chr6:31875019 [GRCh38]
Chr6:31842796 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1760+19C>G single nucleotide variant not provided [RCV002076538] Chr6:31865296 [GRCh38]
Chr6:31833073 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.618-6C>A single nucleotide variant not provided [RCV002131261] Chr6:31871403 [GRCh38]
Chr6:31839180 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1926+13C>G single nucleotide variant not provided [RCV002079246] Chr6:31864803 [GRCh38]
Chr6:31832580 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1760+16C>G single nucleotide variant not provided [RCV002212020] Chr6:31865299 [GRCh38]
Chr6:31833076 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.1477C>T (p.Arg493Cys) single nucleotide variant not provided [RCV002136810] Chr6:31865883 [GRCh38]
Chr6:31833660 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.937C>G (p.Leu313Val) single nucleotide variant SLC44A4-related disorder [RCV003951004]|not provided [RCV002083779] Chr6:31870812 [GRCh38]
Chr6:31838589 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1131-15T>G single nucleotide variant not provided [RCV002163790] Chr6:31869272 [GRCh38]
Chr6:31837049 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.573G>A (p.Ala191=) single nucleotide variant not provided [RCV002122776] Chr6:31871518 [GRCh38]
Chr6:31839295 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.111C>T (p.Cys37=) single nucleotide variant not provided [RCV002120923] Chr6:31876108 [GRCh38]
Chr6:31843885 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1926+5G>T single nucleotide variant not provided [RCV002117528] Chr6:31864811 [GRCh38]
Chr6:31832588 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1254G>A (p.Ser418=) single nucleotide variant not provided [RCV002159321] Chr6:31866106 [GRCh38]
Chr6:31833883 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.90-13G>A single nucleotide variant not provided [RCV002143257] Chr6:31876142 [GRCh38]
Chr6:31843919 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1986T>C (p.Cys662=) single nucleotide variant not provided [RCV002176104] Chr6:31864677 [GRCh38]
Chr6:31832454 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.899G>C (p.Ser300Thr) single nucleotide variant not provided [RCV002155021] Chr6:31870850 [GRCh38]
Chr6:31838627 [GRCh37]
Chr6:6p21.33
benign
NC_000006.11:g.(?_30695893)_(36953949_?)dup duplication Proteasome-associated autoinflammatory syndrome 1 [RCV003113679] Chr6:30695893..36953949 [GRCh37]
Chr6:6p21.33-21.2
uncertain significance
NM_025257.3(SLC44A4):c.256C>A (p.Leu86Ile) single nucleotide variant not provided [RCV003117236]|not specified [RCV004676176] Chr6:31875015 [GRCh38]
Chr6:31842792 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.363G>A (p.Pro121=) single nucleotide variant not provided [RCV003121951] Chr6:31874826 [GRCh38]
Chr6:31842603 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_025257.3(SLC44A4):c.1752C>T (p.Asn584=) single nucleotide variant not provided [RCV003104972] Chr6:31865323 [GRCh38]
Chr6:31833100 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.207C>T (p.Asn69=) single nucleotide variant SLC44A4-related disorder [RCV003954043]|not provided [RCV003104975] Chr6:31875887 [GRCh38]
Chr6:31843664 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_025257.3(SLC44A4):c.1673A>G (p.Asn558Ser) single nucleotide variant not provided [RCV002276144] Chr6:31865511 [GRCh38]
Chr6:31833288 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.599C>T (p.Thr200Ile) single nucleotide variant not provided [RCV002971623]|not specified [RCV004068260] Chr6:31871492 [GRCh38]
Chr6:31839269 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.457C>T (p.Pro153Ser) single nucleotide variant not provided [RCV002904463] Chr6:31874732 [GRCh38]
Chr6:31842509 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.40_40+7del deletion not provided [RCV002512295] Chr6:31878934..31878941 [GRCh38]
Chr6:31846711..31846718 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_025257.3(SLC44A4):c.698T>C (p.Leu233Pro) single nucleotide variant not provided [RCV002908895] Chr6:31871317 [GRCh38]
Chr6:31839094 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.2104C>T (p.Pro702Ser) single nucleotide variant not provided [RCV002617221] Chr6:31863656 [GRCh38]
Chr6:31831433 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1760+18C>G single nucleotide variant not provided [RCV002771350] Chr6:31865297 [GRCh38]
Chr6:31833074 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.40+8T>C single nucleotide variant SLC44A4-related disorder [RCV004756431]|not provided [RCV002914269] Chr6:31878933 [GRCh38]
Chr6:31846710 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_025257.3(SLC44A4):c.447G>T (p.Leu149=) single nucleotide variant not provided [RCV003039158] Chr6:31874742 [GRCh38]
Chr6:31842519 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.327G>C (p.Gln109His) single nucleotide variant not specified [RCV004098591] Chr6:31874944 [GRCh38]
Chr6:31842721 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1016C>T (p.Ala339Val) single nucleotide variant not provided [RCV002846970] Chr6:31870624 [GRCh38]
Chr6:31838401 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.751C>T (p.Arg251Cys) single nucleotide variant not provided [RCV002795278] Chr6:31870998 [GRCh38]
Chr6:31838775 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.75C>A (p.Gly25=) single nucleotide variant not provided [RCV002795554] Chr6:31877048 [GRCh38]
Chr6:31844825 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1103G>A (p.Cys368Tyr) single nucleotide variant not specified [RCV004104942] Chr6:31869572 [GRCh38]
Chr6:31837349 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.877C>G (p.Leu293Val) single nucleotide variant not provided [RCV003053872] Chr6:31870872 [GRCh38]
Chr6:31838649 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.243-14C>T single nucleotide variant not provided [RCV002820979] Chr6:31875042 [GRCh38]
Chr6:31842819 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.834G>T (p.Glu278Asp) single nucleotide variant not specified [RCV004125435] Chr6:31870915 [GRCh38]
Chr6:31838692 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.991C>T (p.Arg331Trp) single nucleotide variant not specified [RCV004105218] Chr6:31870649 [GRCh38]
Chr6:31838426 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1761-19_1761-15dup duplication not provided [RCV002666983] Chr6:31865094..31865095 [GRCh38]
Chr6:31832871..31832872 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.64_78del (p.Ser22_Pro26del) deletion not provided [RCV002786481] Chr6:31877045..31877059 [GRCh38]
Chr6:31844822..31844836 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1234-15C>T single nucleotide variant not provided [RCV002576027] Chr6:31866141 [GRCh38]
Chr6:31833918 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.1228C>T (p.Pro410Ser) single nucleotide variant not provided [RCV002872316] Chr6:31869160 [GRCh38]
Chr6:31836937 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1234-15C>G single nucleotide variant not provided [RCV002572609] Chr6:31866141 [GRCh38]
Chr6:31833918 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.410G>C (p.Gly137Ala) single nucleotide variant not provided [RCV002801930] Chr6:31874779 [GRCh38]
Chr6:31842556 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1760+17C>T single nucleotide variant not provided [RCV002576118] Chr6:31865298 [GRCh38]
Chr6:31833075 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.849G>T (p.Leu283=) single nucleotide variant SLC44A4-related disorder [RCV003961341]|not provided [RCV002985552] Chr6:31870900 [GRCh38]
Chr6:31838677 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_025257.3(SLC44A4):c.31G>A (p.Glu11Lys) single nucleotide variant not provided [RCV002596734] Chr6:31878950 [GRCh38]
Chr6:31846727 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1760+17C>G single nucleotide variant not provided [RCV002572214] Chr6:31865298 [GRCh38]
Chr6:31833075 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.685T>C (p.Trp229Arg) single nucleotide variant not specified [RCV004180874] Chr6:31871330 [GRCh38]
Chr6:31839107 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.913G>A (p.Val305Met) single nucleotide variant not specified [RCV004171190] Chr6:31870836 [GRCh38]
Chr6:31838613 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1171G>C (p.Ala391Pro) single nucleotide variant SLC44A4-related disorder [RCV003916598]|not provided [RCV002900404] Chr6:31869217 [GRCh38]
Chr6:31836994 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1459T>C (p.Leu487=) single nucleotide variant not provided [RCV003031312] Chr6:31865901 [GRCh38]
Chr6:31833678 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1761-5C>G single nucleotide variant not provided [RCV002900627] Chr6:31865085 [GRCh38]
Chr6:31832862 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_025257.3(SLC44A4):c.1233+20A>G single nucleotide variant not provided [RCV002577520] Chr6:31869135 [GRCh38]
Chr6:31836912 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.145A>G (p.Ile49Val) single nucleotide variant not provided [RCV002832896] Chr6:31876074 [GRCh38]
Chr6:31843851 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1462A>T (p.Ile488Phe) single nucleotide variant not provided [RCV002602458]|not specified [RCV004068754] Chr6:31865898 [GRCh38]
Chr6:31833675 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.40+14G>A single nucleotide variant not provided [RCV002934069] Chr6:31878927 [GRCh38]
Chr6:31846704 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1683C>T (p.Ile561=) single nucleotide variant not provided [RCV002922115] Chr6:31865501 [GRCh38]
Chr6:31833278 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.1601C>T (p.Ala534Val) single nucleotide variant not provided [RCV002714805] Chr6:31865583 [GRCh38]
Chr6:31833360 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.938-12C>T single nucleotide variant not provided [RCV002717408] Chr6:31870714 [GRCh38]
Chr6:31838491 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1960G>A (p.Gly654Ser) single nucleotide variant not provided [RCV002627975] Chr6:31864703 [GRCh38]
Chr6:31832480 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1982T>C (p.Met661Thr) single nucleotide variant not provided [RCV002629181]|not specified [RCV004070814] Chr6:31864681 [GRCh38]
Chr6:31832458 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1488-8C>T single nucleotide variant not provided [RCV002720828] Chr6:31865792 [GRCh38]
Chr6:31833569 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1868C>T (p.Pro623Leu) single nucleotide variant not provided [RCV002628405]|not specified [RCV004070581] Chr6:31864874 [GRCh38]
Chr6:31832651 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1853T>C (p.Phe618Ser) single nucleotide variant not provided [RCV005099845]|not specified [RCV004166941] Chr6:31864889 [GRCh38]
Chr6:31832666 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.2098G>C (p.Glu700Gln) single nucleotide variant not provided [RCV002600319] Chr6:31863662 [GRCh38]
Chr6:31831439 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.943G>A (p.Val315Met) single nucleotide variant not provided [RCV002604757] Chr6:31870697 [GRCh38]
Chr6:31838474 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1861C>T (p.Arg621Cys) single nucleotide variant not provided [RCV003068509] Chr6:31864881 [GRCh38]
Chr6:31832658 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.2059A>G (p.Met687Val) single nucleotide variant not provided [RCV003574982]|not specified [RCV004075345] Chr6:31863701 [GRCh38]
Chr6:31831478 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_025257.3(SLC44A4):c.1038-14T>C single nucleotide variant not provided [RCV002587212] Chr6:31869651 [GRCh38]
Chr6:31837428 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.491A>G (p.Gln164Arg) single nucleotide variant not provided [RCV002943988] Chr6:31874498 [GRCh38]
Chr6:31842275 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.89+5del deletion not provided [RCV002942292] Chr6:31877029 [GRCh38]
Chr6:31844806 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1777A>G (p.Lys593Glu) single nucleotide variant not specified [RCV004285050] Chr6:31865064 [GRCh38]
Chr6:31832841 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.851G>A (p.Arg284Gln) single nucleotide variant not specified [RCV004270136] Chr6:31870898 [GRCh38]
Chr6:31838675 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.133A>G (p.Ile45Val) single nucleotide variant not provided [RCV003730452]|not specified [RCV004259052] Chr6:31876086 [GRCh38]
Chr6:31843863 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.700G>T (p.Val234Phe) single nucleotide variant not specified [RCV003331705] Chr6:31871315 [GRCh38]
Chr6:31839092 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.256C>T (p.Leu86Phe) single nucleotide variant not specified [RCV004346937] Chr6:31875015 [GRCh38]
Chr6:31842792 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1546C>T (p.Arg516Trp) single nucleotide variant not specified [RCV004356579] Chr6:31865726 [GRCh38]
Chr6:31833503 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1760+19del deletion not provided [RCV003880266] Chr6:31865296 [GRCh38]
Chr6:31833073 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV003543463] Chr6:31878978 [GRCh38]
Chr6:31846755 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1978G>A (p.Gly660Ser) single nucleotide variant not provided [RCV003872603] Chr6:31864685 [GRCh38]
Chr6:31832462 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1582+7C>G single nucleotide variant not provided [RCV003825540] Chr6:31865683 [GRCh38]
Chr6:31833460 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.383dup (p.Asn130fs) duplication SLC44A4-related disorder [RCV003400324] Chr6:31874805..31874806 [GRCh38]
Chr6:31842582..31842583 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1866C>T (p.Ile622=) single nucleotide variant not provided [RCV003826819] Chr6:31864876 [GRCh38]
Chr6:31832653 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1760+20G>A single nucleotide variant not provided [RCV003830387] Chr6:31865295 [GRCh38]
Chr6:31833072 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.41-1G>A single nucleotide variant not provided [RCV003572859] Chr6:31877083 [GRCh38]
Chr6:31844860 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1822G>A (p.Gly608Arg) single nucleotide variant not provided [RCV003740146] Chr6:31865019 [GRCh38]
Chr6:31832796 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.570G>A (p.Pro190=) single nucleotide variant not provided [RCV003828683] Chr6:31871521 [GRCh38]
Chr6:31839298 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.530-15G>A single nucleotide variant not provided [RCV003880325] Chr6:31871576 [GRCh38]
Chr6:31839353 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1160A>T (p.Tyr387Phe) single nucleotide variant not provided [RCV003829655] Chr6:31869228 [GRCh38]
Chr6:31837005 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1977C>T (p.Phe659=) single nucleotide variant not provided [RCV003577985] Chr6:31864686 [GRCh38]
Chr6:31832463 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.837G>A (p.Glu279=) single nucleotide variant not provided [RCV003572963] Chr6:31870912 [GRCh38]
Chr6:31838689 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.359G>T (p.Cys120Phe) single nucleotide variant not provided [RCV003876899] Chr6:31874830 [GRCh38]
Chr6:31842607 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1995G>A (p.Thr665=) single nucleotide variant not provided [RCV003826223] Chr6:31864668 [GRCh38]
Chr6:31832445 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.674T>C (p.Phe225Ser) single nucleotide variant not provided [RCV003880636] Chr6:31871341 [GRCh38]
Chr6:31839118 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.2011+10A>G single nucleotide variant not provided [RCV003880861] Chr6:31864642 [GRCh38]
Chr6:31832419 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.866C>G (p.Ser289Cys) single nucleotide variant not provided [RCV003880863] Chr6:31870883 [GRCh38]
Chr6:31838660 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1191C>T (p.Pro397=) single nucleotide variant not provided [RCV003833719] Chr6:31869197 [GRCh38]
Chr6:31836974 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.40G>A (p.Gly14Arg) single nucleotide variant not provided [RCV003834082] Chr6:31878941 [GRCh38]
Chr6:31846718 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1927-10T>C single nucleotide variant not provided [RCV003666244] Chr6:31864746 [GRCh38]
Chr6:31832523 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.243-11C>G single nucleotide variant not provided [RCV003851667] Chr6:31875039 [GRCh38]
Chr6:31842816 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1768G>A (p.Val590Ile) single nucleotide variant not provided [RCV003667959] Chr6:31865073 [GRCh38]
Chr6:31832850 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.469-6C>A single nucleotide variant not provided [RCV003817149] Chr6:31874526 [GRCh38]
Chr6:31842303 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.832G>C (p.Glu278Gln) single nucleotide variant not provided [RCV003561368] Chr6:31870917 [GRCh38]
Chr6:31838694 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.1603C>T (p.Arg535Cys) single nucleotide variant not provided [RCV003724960] Chr6:31865581 [GRCh38]
Chr6:31833358 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1905C>T (p.Asn635=) single nucleotide variant not provided [RCV003671711] Chr6:31864837 [GRCh38]
Chr6:31832614 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1583-16C>G single nucleotide variant not provided [RCV003861407] Chr6:31865617 [GRCh38]
Chr6:31833394 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1583-9C>T single nucleotide variant not provided [RCV003844465] Chr6:31865610 [GRCh38]
Chr6:31833387 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1037+11G>A single nucleotide variant not provided [RCV003679800] Chr6:31870592 [GRCh38]
Chr6:31838369 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.804G>T (p.Val268=) single nucleotide variant not provided [RCV003846950] Chr6:31870945 [GRCh38]
Chr6:31838722 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1037+7G>C single nucleotide variant not provided [RCV003732633] Chr6:31870596 [GRCh38]
Chr6:31838373 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1694T>C (p.Ile565Thr) single nucleotide variant not provided [RCV003734936] Chr6:31865381 [GRCh38]
Chr6:31833158 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1699G>A (p.Gly567Arg) single nucleotide variant not provided [RCV003847241] Chr6:31865376 [GRCh38]
Chr6:31833153 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.71G>A (p.Arg24Gln) single nucleotide variant not provided [RCV003732135] Chr6:31877052 [GRCh38]
Chr6:31844829 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1131-18T>C single nucleotide variant not provided [RCV003822585] Chr6:31869275 [GRCh38]
Chr6:31837052 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.568C>T (p.Pro190Ser) single nucleotide variant not provided [RCV003682726] Chr6:31871523 [GRCh38]
Chr6:31839300 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.660G>A (p.Lys220=) single nucleotide variant not provided [RCV003719372] Chr6:31871355 [GRCh38]
Chr6:31839132 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.653G>C (p.Ser218Thr) single nucleotide variant not provided [RCV003867644] Chr6:31871362 [GRCh38]
Chr6:31839139 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1038-6C>G single nucleotide variant SLC44A4-related disorder [RCV004756523]|not provided [RCV003567914] Chr6:31869643 [GRCh38]
Chr6:31837420 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_025257.3(SLC44A4):c.1685T>C (p.Met562Thr) single nucleotide variant not provided [RCV003712262] Chr6:31865499 [GRCh38]
Chr6:31833276 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.285C>G (p.Ile95Met) single nucleotide variant not provided [RCV003729331] Chr6:31874986 [GRCh38]
Chr6:31842763 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1232C>T (p.Thr411Met) single nucleotide variant not provided [RCV003728422]|not specified [RCV004867906] Chr6:31869156 [GRCh38]
Chr6:31836933 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.40+3G>A single nucleotide variant not provided [RCV003842050] Chr6:31878938 [GRCh38]
Chr6:31846715 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1927-17C>T single nucleotide variant not provided [RCV003821172] Chr6:31864753 [GRCh38]
Chr6:31832530 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1284C>T (p.Gly428=) single nucleotide variant not provided [RCV003731503] Chr6:31866076 [GRCh38]
Chr6:31833853 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.951G>A (p.Ala317=) single nucleotide variant SLC44A4-related disorder [RCV003904466] Chr6:31870689 [GRCh38]
Chr6:31838466 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.978G>A (p.Met326Ile) single nucleotide variant SLC44A4-related disorder [RCV003951893] Chr6:31870662 [GRCh38]
Chr6:31838439 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.242+14C>T single nucleotide variant not specified [RCV003988220] Chr6:31875838 [GRCh38]
Chr6:31843615 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.117_125del (p.Leu42_Phe44del) deletion SLC44A4-related disorder [RCV003901594] Chr6:31876094..31876102 [GRCh38]
Chr6:31843871..31843879 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.479C>T (p.Thr160Ile) single nucleotide variant not specified [RCV004461720] Chr6:31874510 [GRCh38]
Chr6:31842287 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.572C>T (p.Ala191Val) single nucleotide variant not specified [RCV004461722] Chr6:31871519 [GRCh38]
Chr6:31839296 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.707T>C (p.Leu236Pro) single nucleotide variant not specified [RCV004461724] Chr6:31871042 [GRCh38]
Chr6:31838819 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.362C>T (p.Pro121Leu) single nucleotide variant not specified [RCV004461719] Chr6:31874827 [GRCh38]
Chr6:31842604 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.538C>T (p.Arg180Cys) single nucleotide variant not specified [RCV004461721] Chr6:31871553 [GRCh38]
Chr6:31839330 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.163+6T>C single nucleotide variant SLC44A4-related disorder [RCV003914590]|not provided [RCV005101734] Chr6:31876050 [GRCh38]
Chr6:31843827 [GRCh37]
Chr6:6p21.33
likely benign
NC_000006.11:g.(?_31631971)_(31895135_?)del deletion not provided [RCV004578802] Chr6:31631971..31895135 [GRCh37]
Chr6:6p21.33
pathogenic
NC_000006.11:g.(?_31620520)_(31937492_?)del deletion not provided [RCV004578883] Chr6:31620520..31937492 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1834G>A (p.Val612Ile) single nucleotide variant not specified [RCV004586187] Chr6:31864908 [GRCh38]
Chr6:31832685 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1657A>G (p.Lys553Glu) single nucleotide variant not specified [RCV004674756] Chr6:31865527 [GRCh38]
Chr6:31833304 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1313C>T (p.Ser438Phe) single nucleotide variant not specified [RCV004674758] Chr6:31866047 [GRCh38]
Chr6:31833824 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.272T>A (p.Ile91Asn) single nucleotide variant SLC44A4-related disorder [RCV004756748] Chr6:31874999 [GRCh38]
Chr6:31842776 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.959A>C (p.Glu320Ala) single nucleotide variant not specified [RCV004862233] Chr6:31870681 [GRCh38]
Chr6:31838458 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1534G>C (p.Val512Leu) single nucleotide variant not specified [RCV004862235] Chr6:31865738 [GRCh38]
Chr6:31833515 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1669C>T (p.Arg557Cys) single nucleotide variant not specified [RCV004862234] Chr6:31865515 [GRCh38]
Chr6:31833292 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1922T>A (p.Ile641Asn) single nucleotide variant not specified [RCV004870600] Chr6:31864820 [GRCh38]
Chr6:31832597 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.596C>A (p.Thr199Asn) single nucleotide variant not provided [RCV005144940] Chr6:31871495 [GRCh38]
Chr6:31839272 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1386A>G (p.Gln462=) single nucleotide variant not provided [RCV005066751] Chr6:31865974 [GRCh38]
Chr6:31833751 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1760+16C>A single nucleotide variant not provided [RCV005086592] Chr6:31865299 [GRCh38]
Chr6:31833076 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1266_1285del (p.Met423fs) deletion not provided [RCV005087522] Chr6:31866075..31866094 [GRCh38]
Chr6:31833852..31833871 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.689A>T (p.Tyr230Phe) single nucleotide variant not specified [RCV004870594] Chr6:31871326 [GRCh38]
Chr6:31839103 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1612A>T (p.Met538Leu) single nucleotide variant not specified [RCV004870595] Chr6:31865572 [GRCh38]
Chr6:31833349 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.2017G>C (p.Asp673His) single nucleotide variant not specified [RCV004870596] Chr6:31863743 [GRCh38]
Chr6:31831520 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1273G>A (p.Val425Ile) single nucleotide variant not specified [RCV004870597] Chr6:31866087 [GRCh38]
Chr6:31833864 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1966T>C (p.Phe656Leu) single nucleotide variant not specified [RCV004870598] Chr6:31864697 [GRCh38]
Chr6:31832474 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1760+14C>T single nucleotide variant not provided [RCV005064541] Chr6:31865301 [GRCh38]
Chr6:31833078 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.2032_2052dup (p.Pro684_Tyr685insAsnGlySerLeuAspArgPro) duplication not provided [RCV005085968] Chr6:31863707..31863708 [GRCh38]
Chr6:31831484..31831485 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.2012-20C>T single nucleotide variant not provided [RCV005062168] Chr6:31863768 [GRCh38]
Chr6:31831545 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1337G>A (p.Gly446Glu) single nucleotide variant not provided [RCV005085591] Chr6:31866023 [GRCh38]
Chr6:31833800 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.2096A>G (p.Asn699Ser) single nucleotide variant not specified [RCV004870599] Chr6:31863664 [GRCh38]
Chr6:31831441 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.34G>A (p.Ala12Thr) single nucleotide variant not provided [RCV005132598] Chr6:31878947 [GRCh38]
Chr6:31846724 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1981A>C (p.Met661Leu) single nucleotide variant not provided [RCV005135661] Chr6:31864682 [GRCh38]
Chr6:31832459 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1987G>A (p.Val663Met) single nucleotide variant not provided [RCV005070281] Chr6:31864676 [GRCh38]
Chr6:31832453 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1858G>A (p.Gly620Ser) single nucleotide variant not provided [RCV005110685] Chr6:31864884 [GRCh38]
Chr6:31832661 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.174T>G (p.Tyr58Ter) single nucleotide variant not provided [RCV005149367] Chr6:31875920 [GRCh38]
Chr6:31843697 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1698C>T (p.Tyr566=) single nucleotide variant not provided [RCV005192811] Chr6:31865377 [GRCh38]
Chr6:31833154 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1486C>T (p.Arg496Cys) single nucleotide variant not provided [RCV005186519] Chr6:31865874 [GRCh38]
Chr6:31833651 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1165C>T (p.Leu389Phe) single nucleotide variant not provided [RCV005128432] Chr6:31869223 [GRCh38]
Chr6:31837000 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1455C>T (p.Phe485=) single nucleotide variant not provided [RCV005117926] Chr6:31865905 [GRCh38]
Chr6:31833682 [GRCh37]
Chr6:6p21.33
benign
NM_025257.3(SLC44A4):c.339C>A (p.Pro113=) single nucleotide variant not provided [RCV005144105] Chr6:31874932 [GRCh38]
Chr6:31842709 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.342+3C>T single nucleotide variant not provided [RCV005161812] Chr6:31874926 [GRCh38]
Chr6:31842703 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1759A>C (p.Arg587=) single nucleotide variant not provided [RCV005115678] Chr6:31865316 [GRCh38]
Chr6:31833093 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1530C>G (p.Thr510=) single nucleotide variant not provided [RCV005194644] Chr6:31865742 [GRCh38]
Chr6:31833519 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.1514G>A (p.Gly505Glu) single nucleotide variant not provided [RCV005117478] Chr6:31865758 [GRCh38]
Chr6:31833535 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.61C>A (p.Pro21Thr) single nucleotide variant not provided [RCV005116898] Chr6:31877062 [GRCh38]
Chr6:31844839 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.172T>C (p.Tyr58His) single nucleotide variant not provided [RCV005155179] Chr6:31875922 [GRCh38]
Chr6:31843699 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1760+17_1760+18insG insertion not provided [RCV005160152] Chr6:31865297..31865298 [GRCh38]
Chr6:31833074..31833075 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.22G>T (p.Glu8Ter) single nucleotide variant not provided [RCV005180035] Chr6:31878959 [GRCh38]
Chr6:31846736 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.559_560inv (p.Val187Thr) inversion not provided [RCV005118532] Chr6:31871531..31871532 [GRCh38]
Chr6:31839308..31839309 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.369C>T (p.Asp123=) single nucleotide variant not provided [RCV005083811] Chr6:31874820 [GRCh38]
Chr6:31842597 [GRCh37]
Chr6:6p21.33
likely benign
NM_025257.3(SLC44A4):c.425C>T (p.Thr142Ile) single nucleotide variant not provided [RCV005123846] Chr6:31874764 [GRCh38]
Chr6:31842541 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1192G>A (p.Gly398Ser) single nucleotide variant not provided [RCV005177295] Chr6:31869196 [GRCh38]
Chr6:31836973 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_025257.3(SLC44A4):c.1892G>T (p.Ser631Ile) single nucleotide variant not provided [RCV005071900] Chr6:31864850 [GRCh38]
Chr6:31832627 [GRCh37]
Chr6:6p21.33
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2373
Count of miRNA genes:842
Interacting mature miRNAs:1019
Transcripts:ENST00000229729, ENST00000375562, ENST00000414427, ENST00000462671, ENST00000465707, ENST00000475563, ENST00000479777, ENST00000487680, ENST00000544672
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597021073GWAS1117147_Htotal iron binding capacity QTL GWAS1117147 (human)0.0000008total iron binding capacity63187224431872245Human
597301917GWAS1397991_Hlevel of tapasin in blood serum QTL GWAS1397991 (human)1e-13level of tapasin in blood serum63187508231875083Human
597350290GWAS1446364_Hlean body mass QTL GWAS1446364 (human)3e-46body lean mass (VT:0010483)total body lean mass (CMO:0003950)63187224431872245Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
597220242GWAS1316316_HBMI-adjusted waist-hip ratio QTL GWAS1316316 (human)4e-10body size trait (VT:0100005)63187093631870937Human
597220244GWAS1316318_HBMI-adjusted waist-hip ratio QTL GWAS1316318 (human)9e-19body size trait (VT:0100005)63186905031869051Human
597069958GWAS1166032_Hmosquito bite reaction itch intensity measurement, mosquito bite reaction size measurement QTL GWAS1166032 (human)0.0000009mosquito bite reaction itch intensity measurement, mosquito bite reaction size measurement63186905031869051Human
407005267GWAS654243_Hage at menopause QTL GWAS654243 (human)0.0000005age at menopause63187093631870937Human
597340043GWAS1436117_Hsarcoidosis QTL GWAS1436117 (human)0.0000002sarcoidosis63187327831873279Human
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
597349256GWAS1445330_Hbody fat percentage QTL GWAS1445330 (human)3e-15body fat mass (VT:0010482)body fat percentage (CMO:0000302)63187690731876908Human
597302924GWAS1398998_Hlevel of folate receptor alpha in blood serum QTL GWAS1398998 (human)2e-14level of folate receptor alpha in blood serum63187508231875083Human
597049473GWAS1145547_Hhypertension QTL GWAS1145547 (human)1e-10hypertension63187200531872006Human
597051020GWAS1147094_HParkinson disease QTL GWAS1147094 (human)4e-11Parkinson disease63187845731878458Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human
597271942GWAS1368016_HMHC class I polypeptide-related sequence A measurement QTL GWAS1368016 (human)9e-13MHC class I polypeptide-related sequence A measurement63186338231863383Human
597304250GWAS1400324_HBMI-adjusted waist-hip ratio QTL GWAS1400324 (human)6e-13body size trait (VT:0100005)63187093631870937Human
597304251GWAS1400325_HBMI-adjusted waist-hip ratio QTL GWAS1400325 (human)3e-25body size trait (VT:0100005)63187224431872245Human
597249725GWAS1345799_Hstaphylococcus seropositivity QTL GWAS1345799 (human)1e-11staphylococcus seropositivity63187270031872701Human
597249980GWAS1346054_Hstreptococcus seropositivity QTL GWAS1346054 (human)1e-13streptococcus seropositivity63187270031872701Human
597305023GWAS1401097_Hlevel of ferritin, mitochondrial in blood serum QTL GWAS1401097 (human)7e-33level of ferritin, mitochondrial in blood serum63187508231875083Human
597304252GWAS1400326_HBMI-adjusted waist-hip ratio QTL GWAS1400326 (human)6e-21body size trait (VT:0100005)63187071331870714Human
597250495GWAS1346569_Hstreptococcus seropositivity QTL GWAS1346569 (human)6e-09streptococcus seropositivity63187270031872701Human
597304253GWAS1400327_HBMI-adjusted waist-hip ratio QTL GWAS1400327 (human)1e-08body size trait (VT:0100005)63187263831872639Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
597025981GWAS1122055_Htriglyceride measurement QTL GWAS1122055 (human)6e-14triglyceride measurementblood triglyceride level (CMO:0000118)63187224431872245Human
597249970GWAS1346044_Hblautia seropositivity QTL GWAS1346044 (human)9e-10blautia seropositivity63187270031872701Human
597069496GWAS1165570_Hsusceptibility to scarlet fever measurement QTL GWAS1165570 (human)0.000007susceptibility to scarlet fever measurement63186738731867388Human
597189293GWAS1285367_Hmetabolite measurement, diet measurement QTL GWAS1285367 (human)2e-12eating behavior trait (VT:0001431)food intake measurement (CMO:0000772)63186426131864262Human
597063891GWAS1159965_Hlung carcinoma QTL GWAS1159965 (human)8e-19lung carcinoma63187270031872701Human
597323472GWAS1419546_Hinterleukin-36 alpha measurement QTL GWAS1419546 (human)8e-12interleukin-36 alpha measurement63187508231875083Human
597303761GWAS1399835_HBMI-adjusted hip circumference QTL GWAS1399835 (human)4e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)63187323231873233Human
597303764GWAS1399838_HBMI-adjusted hip circumference QTL GWAS1399838 (human)2e-20BMI-adjusted hip circumferencehip circumference (CMO:0000014)63187411331874114Human
597303765GWAS1399839_HBMI-adjusted hip circumference QTL GWAS1399839 (human)2e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)63187071331870714Human
597303756GWAS1399830_Hlevel of calsequestrin-1 in blood serum QTL GWAS1399830 (human)5e-14level of calsequestrin-1 in blood serum63187508231875083Human
597203651GWAS1299725_Hupper aerodigestive tract neoplasm QTL GWAS1299725 (human)3e-19upper aerodigestive tract neoplasm63187270031872701Human
597251271GWAS1347345_Hstreptococcus seropositivity QTL GWAS1347345 (human)3e-08streptococcus seropositivity63187270031872701Human
597447416GWAS1543490_Hclostridium difficile infection QTL GWAS1543490 (human)0.000004clostridium difficile infection63187312131873122Human
597270527GWAS1366601_HBMI-adjusted hip circumference QTL GWAS1366601 (human)2e-27BMI-adjusted hip circumferencehip circumference (CMO:0000014)63187224431872245Human
597110513GWAS1206587_HCalcium channel blocker use measurement QTL GWAS1206587 (human)2e-10Calcium channel blocker use measurement63187267831872679Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
597251056GWAS1347130_Hstaphylococcus seropositivity QTL GWAS1347130 (human)4e-08staphylococcus seropositivity63187270031872701Human
597066726GWAS1162800_Hsusceptibility to cold sores measurement QTL GWAS1162800 (human)0.000003susceptibility to cold sores measurement63186866531868666Human
406987827GWAS636803_Hlow density lipoprotein cholesterol measurement, alcohol drinking QTL GWAS636803 (human)7e-12low density lipoprotein cholesterol measurement, alcohol drinkingblood low density lipoprotein cholesterol level (CMO:0000053)63187224431872245Human
597302499GWAS1398573_Hlevel of sialidase-1 in blood serum QTL GWAS1398573 (human)1e-24level of sialidase-1 in blood serum63187508231875083Human
597027055GWAS1123129_Hlow density lipoprotein cholesterol measurement QTL GWAS1123129 (human)6e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)63187224431872245Human
597069290GWAS1165364_Hlung carcinoma QTL GWAS1165364 (human)3e-14lung carcinoma63187270031872701Human
597253656GWAS1349730_HBMI-adjusted waist-hip ratio QTL GWAS1349730 (human)3e-16body size trait (VT:0100005)63186905031869051Human
597062162GWAS1158236_Hsystemic lupus erythematosus QTL GWAS1158236 (human)1e-12systemic lupus erythematosus63186738531867386Human
597244447GWAS1340521_HBMI-adjusted waist circumference QTL GWAS1340521 (human)1e-21body size trait (VT:0100005)63187018631870187Human
597454618GWAS1550692_Hplant allergen seropositivity QTL GWAS1550692 (human)8e-09plant allergen seropositivity63187820831878209Human
597267985GWAS1364059_HBMI-adjusted waist circumference QTL GWAS1364059 (human)1e-09body size trait (VT:0100005)63187411331874114Human
597345808GWAS1441882_Himmature granulocyte count QTL GWAS1441882 (human)1e-17immature granulocyte count63186426131864262Human
597253654GWAS1349728_HBMI-adjusted waist-hip ratio QTL GWAS1349728 (human)6e-09body size trait (VT:0100005)63187093631870937Human
597240840GWAS1336914_HBMI-adjusted waist-hip ratio QTL GWAS1336914 (human)9e-09body size trait (VT:0100005)63187263831872639Human
597250312GWAS1346386_Hstreptococcus seropositivity QTL GWAS1346386 (human)9e-28streptococcus seropositivity63187270031872701Human
597261067GWAS1357141_HInguinal hernia QTL GWAS1357141 (human)3e-09Inguinal hernia63187270031872701Human
597261066GWAS1357140_HInguinal hernia QTL GWAS1357140 (human)4e-09Inguinal hernia63186426131864262Human
597249290GWAS1345364_Hanimal allergen seropositivity QTL GWAS1345364 (human)1e-12animal allergen seropositivity63187323231873233Human
406985942GWAS634918_Htriglyceride measurement QTL GWAS634918 (human)0.000004triglyceride measurementblood triglyceride level (CMO:0000118)63187224431872245Human
597043971GWAS1140045_Hforced expiratory volume QTL GWAS1140045 (human)4e-09forced expiratory volumeforced expiratory volume (CMO:0000254)63187263831872639Human
597249281GWAS1345355_Hstreptococcus seropositivity QTL GWAS1345355 (human)2e-10streptococcus seropositivity63187270031872701Human
597019148GWAS1115222_Hwet macular degeneration QTL GWAS1115222 (human)1e-11wet macular degeneration63187482131874822Human
597063948GWAS1160022_Hperceived unattractiveness to mosquitos measurement QTL GWAS1160022 (human)0.0000004perceived unattractiveness to mosquitos measurement63186905031869051Human
597240834GWAS1336908_HBMI-adjusted waist-hip ratio QTL GWAS1336908 (human)2e-12body size trait (VT:0100005)63187323231873233Human
597240837GWAS1336911_HBMI-adjusted waist-hip ratio QTL GWAS1336911 (human)1e-13body size trait (VT:0100005)63187093631870937Human
597249540GWAS1345614_Hstreptococcus seropositivity QTL GWAS1345614 (human)2e-19streptococcus seropositivity63187270031872701Human
1643399BMD5_HBone mineral density QTL 5 (human)2.320.0005Bone mineral density6691196032911960Human
407084765GWAS733741_Htotal cholesterol measurement, C-reactive protein measurement QTL GWAS733741 (human)2e-08total cholesterol measurement, C-reactive protein measurementblood C-reactive protein level (CMO:0003160)63187018631870187Human
597240839GWAS1336913_HBMI-adjusted waist-hip ratio QTL GWAS1336913 (human)4e-22body size trait (VT:0100005)63187071331870714Human
597240838GWAS1336912_HBMI-adjusted waist-hip ratio QTL GWAS1336912 (human)6e-27body size trait (VT:0100005)63187224431872245Human
597251129GWAS1347203_Hstreptococcus seropositivity QTL GWAS1347203 (human)6e-11streptococcus seropositivity63187270031872701Human
597046069GWAS1142143_Hatopic asthma QTL GWAS1142143 (human)3e-08atopic asthma63186866531868666Human
407012591GWAS661567_HVitiligo QTL GWAS661567 (human)1e-48Vitiligo63186928931869290Human
406981106GWAS630082_Htriglyceride measurement, alcohol drinking QTL GWAS630082 (human)3e-19triglyceride measurement, alcohol drinkingblood triglyceride level (CMO:0000118)63187224431872245Human
597250861GWAS1346935_Hanimal allergen seropositivity QTL GWAS1346935 (human)1e-11animal allergen seropositivity63187845731878458Human
597071151GWAS1167225_Hmosquito bite reaction itch intensity measurement QTL GWAS1167225 (human)4e-20mosquito bite reaction itch intensity measurement63186905031869051Human
406986491GWAS635467_Htriglyceride measurement QTL GWAS635467 (human)2e-08triglyceride measurementblood triglyceride level (CMO:0000118)63187224431872245Human
597144915GWAS1240989_Hcoffee consumption measurement QTL GWAS1240989 (human)2e-08coffee consumption measurement63186947331869474Human
597099858GWAS1195932_Hcups of coffee per day measurement QTL GWAS1195932 (human)8e-09cups of coffee per day measurement63186950031869501Human
406985604GWAS634580_Hlow density lipoprotein cholesterol measurement, alcohol drinking QTL GWAS634580 (human)4e-12low density lipoprotein cholesterol measurement, alcohol drinkingblood low density lipoprotein cholesterol level (CMO:0000053)63187224431872245Human
597471316GWAS1567390_Hself reported educational attainment QTL GWAS1567390 (human)5e-12self reported educational attainment63187820831878209Human
597250135GWAS1346209_Hstreptococcus seropositivity QTL GWAS1346209 (human)4e-11streptococcus seropositivity63187270031872701Human
406982034GWAS631010_Htriglyceride measurement, alcohol drinking QTL GWAS631010 (human)1e-14triglyceride measurement, alcohol drinkingblood triglyceride level (CMO:0000118)63187224431872245Human
597025861GWAS1121935_Htriglyceride measurement QTL GWAS1121935 (human)1e-10triglyceride measurementblood triglyceride level (CMO:0000118)63187224431872245Human
597041478GWAS1137552_Happendicular lean mass QTL GWAS1137552 (human)2e-12appendicular lean mass63187411331874114Human
597249861GWAS1345935_Hstreptococcus seropositivity QTL GWAS1345935 (human)7e-23streptococcus seropositivity63187270031872701Human
597051464GWAS1147538_Htriglyceride measurement, physical activity QTL GWAS1147538 (human)4e-14triglyceride measurement, physical activityblood triglyceride level (CMO:0000118)63187224431872245Human
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
597027185GWAS1123259_Hlow density lipoprotein cholesterol measurement QTL GWAS1123259 (human)3e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)63187224431872245Human
597316478GWAS1412552_HBMI-adjusted waist circumference QTL GWAS1412552 (human)3e-08body size trait (VT:0100005)63187224431872245Human
407135650GWAS784626_Hchronotype measurement QTL GWAS784626 (human)3e-08sleep behavior trait (VT:0001501)63187267831872679Human
597316477GWAS1412551_HBMI-adjusted waist circumference QTL GWAS1412551 (human)6e-09body size trait (VT:0100005)63187018631870187Human
597244275GWAS1340349_HBMI-adjusted waist circumference QTL GWAS1340349 (human)7e-16body size trait (VT:0100005)63187093631870937Human
1298431RA11_HRheumatoid arthritis QTL 11 (human)0.0000024Joint/bone inflammationrheumatoid arthritis61991188340191709Human
597244276GWAS1340350_HBMI-adjusted waist circumference QTL GWAS1340350 (human)1e-24body size trait (VT:0100005)63187224431872245Human
597298287GWAS1394361_HBMI-adjusted waist-hip ratio QTL GWAS1394361 (human)3e-12body size trait (VT:0100005)63187323231873233Human
597272174GWAS1368248_HMHC class I polypeptide-related sequence A measurement QTL GWAS1368248 (human)7e-22MHC class I polypeptide-related sequence A measurement63186866531868666Human

Markers in Region
D15S948E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,847,560 - 31,847,629UniSTSGRCh37
Build 36631,955,539 - 31,955,608RGDNCBI36
Celera633,446,141 - 33,446,210RGD
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef631,633,364 - 31,633,433UniSTS
RH70238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,847,577 - 31,847,737UniSTSGRCh37
Build 36631,955,556 - 31,955,716RGDNCBI36
Celera633,446,158 - 33,446,318RGD
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef631,633,381 - 31,633,541UniSTS
GeneMap99-GB4 RH Map6119.82UniSTS
RH46780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,847,566 - 31,847,686UniSTSGRCh37
Build 36631,955,545 - 31,955,665RGDNCBI36
Celera633,446,147 - 33,446,267RGD
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef631,633,370 - 31,633,490UniSTS
GeneMap99-GB4 RH Map6145.45UniSTS
NCBI RH Map6509.1UniSTS
WI-19170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,847,566 - 31,847,846UniSTSGRCh37
Build 36631,955,545 - 31,955,825RGDNCBI36
Celera633,446,147 - 33,446,427RGD
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef631,633,370 - 31,633,650UniSTS
GeneMap99-GB4 RH Map6146.3UniSTS
Whitehead-RH Map6159.6UniSTS
NCBI RH Map6509.1UniSTS
D6S2924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,836,518 - 31,836,670UniSTSGRCh37
Build 36631,944,497 - 31,944,649RGDNCBI36
Celera633,435,105 - 33,435,253RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,622,332 - 31,622,476UniSTS
STS-X69838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,847,588 - 31,847,741UniSTSGRCh37
Build 36631,955,567 - 31,955,720RGDNCBI36
Celera633,446,169 - 33,446,322RGD
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef631,633,392 - 31,633,545UniSTS
GeneMap99-GB4 RH Map6119.82UniSTS
D6S2052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,847,561 - 31,847,686UniSTSGRCh37
Build 36631,955,540 - 31,955,665RGDNCBI36
Celera633,446,142 - 33,446,267RGD
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef631,633,365 - 31,633,490UniSTS
UniSTS:237636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,848,453 - 31,848,594UniSTSGRCh37
Build 36631,956,432 - 31,956,573RGDNCBI36
Celera633,447,034 - 33,447,175RGD
HuRef631,634,257 - 31,634,398UniSTS
MARC_12895-12896:999881472:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,847,968 - 31,848,521UniSTSGRCh37
Build 36631,955,947 - 31,956,500RGDNCBI36
Celera633,446,549 - 33,447,102RGD
HuRef631,633,772 - 31,634,325UniSTS
MN6S1424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,836,552 - 31,836,671UniSTSGRCh37
Build 36631,944,531 - 31,944,650RGDNCBI36
Celera633,435,139 - 33,435,254RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,622,366 - 31,622,477UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
ksks210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,848,011 - 31,848,520UniSTSGRCh37
Celera633,446,592 - 33,447,101UniSTS
HuRef631,633,815 - 31,634,324UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
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Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2418 2659 2106 4683 1691 2310 6 593 1593 434 2268 6641 5953 52 3449 1 848 1743 1607 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF134726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI560195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI956094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL671762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL844853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BA000025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX005460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR388202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR759784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA924720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC300771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC392935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU175229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000229729   ⟹   ENSP00000229729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,863,192 - 31,878,997 (-)Ensembl
Ensembl Acc Id: ENST00000375562   ⟹   ENSP00000364712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,863,195 - 31,879,046 (-)Ensembl
Ensembl Acc Id: ENST00000414427   ⟹   ENSP00000398901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,865,690 - 31,878,967 (-)Ensembl
Ensembl Acc Id: ENST00000462671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,874,822 - 31,878,997 (-)Ensembl
Ensembl Acc Id: ENST00000465707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,874,525 - 31,878,997 (-)Ensembl
Ensembl Acc Id: ENST00000475563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,869,596 - 31,871,244 (-)Ensembl
Ensembl Acc Id: ENST00000479777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,866,059 - 31,871,202 (-)Ensembl
Ensembl Acc Id: ENST00000487680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,863,577 - 31,864,680 (-)Ensembl
Ensembl Acc Id: ENST00000544672   ⟹   ENSP00000444109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,863,195 - 31,877,671 (-)Ensembl
Ensembl Acc Id: ENST00000644409   ⟹   ENSP00000496109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,863,454 - 31,877,671 (-)Ensembl
RefSeq Acc Id: NM_001178044   ⟹   NP_001171515
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,863,192 - 31,878,997 (-)NCBI
GRCh37631,830,969 - 31,846,823 (-)RGD
Celera633,429,555 - 33,445,404 (-)RGD
HuRef631,616,782 - 31,632,627 (-)RGD
CHM1_1631,833,110 - 31,848,964 (-)NCBI
T2T-CHM13v2.0631,716,432 - 31,732,232 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001178045   ⟹   NP_001171516
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,863,192 - 31,877,671 (-)NCBI
GRCh37631,830,969 - 31,846,823 (-)RGD
Celera633,429,555 - 33,445,404 (-)RGD
HuRef631,616,782 - 31,632,627 (-)RGD
CHM1_1631,833,110 - 31,847,589 (-)NCBI
T2T-CHM13v2.0631,716,432 - 31,730,906 (-)NCBI
Sequence:
RefSeq Acc Id: NM_025257   ⟹   NP_079533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,863,192 - 31,878,997 (-)NCBI
GRCh37631,830,969 - 31,846,823 (-)RGD
Build 36631,938,948 - 31,954,802 (-)NCBI Archive
Celera633,429,555 - 33,445,404 (-)RGD
HuRef631,616,782 - 31,632,627 (-)RGD
CHM1_1631,833,110 - 31,848,964 (-)NCBI
T2T-CHM13v2.0631,716,432 - 31,732,232 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001171515 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171516 (Get FASTA)   NCBI Sequence Viewer  
  NP_079533 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD21813 (Get FASTA)   NCBI Sequence Viewer  
  AAH14659 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88822 (Get FASTA)   NCBI Sequence Viewer  
  AEE60961 (Get FASTA)   NCBI Sequence Viewer  
  ANB32183 (Get FASTA)   NCBI Sequence Viewer  
  AQY77123 (Get FASTA)   NCBI Sequence Viewer  
  AQY77124 (Get FASTA)   NCBI Sequence Viewer  
  AQY77125 (Get FASTA)   NCBI Sequence Viewer  
  AQY77126 (Get FASTA)   NCBI Sequence Viewer  
  AQY77127 (Get FASTA)   NCBI Sequence Viewer  
  AQY77128 (Get FASTA)   NCBI Sequence Viewer  
  AQY77129 (Get FASTA)   NCBI Sequence Viewer  
  BAB55083 (Get FASTA)   NCBI Sequence Viewer  
  BAB63296 (Get FASTA)   NCBI Sequence Viewer  
  BAD96718 (Get FASTA)   NCBI Sequence Viewer  
  BAG62256 (Get FASTA)   NCBI Sequence Viewer  
  BAG63084 (Get FASTA)   NCBI Sequence Viewer  
  CAH56275 (Get FASTA)   NCBI Sequence Viewer  
  EAX03538 (Get FASTA)   NCBI Sequence Viewer  
  EAX03539 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000229729
  ENSP00000229729.6
  ENSP00000364712
  ENSP00000364712.4
  ENSP00000372870.4
  ENSP00000389244.2
  ENSP00000393939.2
  ENSP00000398852.2
  ENSP00000399161.2
  ENSP00000414120.2
  ENSP00000444109
  ENSP00000444109.1
  ENSP00000447560.1
  ENSP00000447704.1
  ENSP00000448088.1
  ENSP00000448474.1
  ENSP00000449039.1
  ENSP00000449180.1
  ENSP00000449232.1
  ENSP00000449518.1
  ENSP00000449642.1
GenBank Protein Q53GD3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_079533   ⟸   NM_025257
- Peptide Label: isoform 1
- UniProtKB: Q96K59 (UniProtKB/Swiss-Prot),   Q96C58 (UniProtKB/Swiss-Prot),   Q8TEW4 (UniProtKB/Swiss-Prot),   Q6UX89 (UniProtKB/Swiss-Prot),   Q658S8 (UniProtKB/Swiss-Prot),   Q5JQ93 (UniProtKB/Swiss-Prot),   Q5JP84 (UniProtKB/Swiss-Prot),   E9PEK7 (UniProtKB/Swiss-Prot),   B4DWM2 (UniProtKB/Swiss-Prot),   B4DU94 (UniProtKB/Swiss-Prot),   B0UZY8 (UniProtKB/Swiss-Prot),   B0UXX8 (UniProtKB/Swiss-Prot),   A2BED3 (UniProtKB/Swiss-Prot),   Q9Y332 (UniProtKB/Swiss-Prot),   Q53GD3 (UniProtKB/Swiss-Prot),   A0A140VJH4 (UniProtKB/TrEMBL),   A0A0G2JL76 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171515   ⟸   NM_001178044
- Peptide Label: isoform 2
- UniProtKB: A0A0G2JL76 (UniProtKB/TrEMBL),   A0A1U9X8K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171516   ⟸   NM_001178045
- Peptide Label: isoform 3
- UniProtKB: A0A1U9X8K7 (UniProtKB/TrEMBL),   A0A0G2JL76 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000229729   ⟸   ENST00000229729
Ensembl Acc Id: ENSP00000444109   ⟸   ENST00000544672
Ensembl Acc Id: ENSP00000398901   ⟸   ENST00000414427
Ensembl Acc Id: ENSP00000364712   ⟸   ENST00000375562
Ensembl Acc Id: ENSP00000496109   ⟸   ENST00000644409

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q53GD3-F1-model_v2 AlphaFold Q53GD3 1-710 view protein structure

Promoters
RGD ID:6872670
Promoter ID:EPDNEW_H9500
Type:initiation region
Name:SLC44A4_1
Description:solute carrier family 44 member 4
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
GRCh38631,878,997 - 31,879,057EPDNEW
RGD ID:6804804
Promoter ID:HG_KWN:53008
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000268532
Position:
Human AssemblyChrPosition (strand)Source
Build 36631,940,881 - 31,941,381 (-)MPROMDB
RGD ID:6804145
Promoter ID:HG_KWN:53011
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000229729,   ENST00000375562,   ENST00000375582,   NM_001178044,   OTTHUMT00000076235,   OTTHUMT00000268528,   OTTHUMT00000268529
Position:
Human AssemblyChrPosition (strand)Source
Build 36631,955,246 - 31,955,746 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13941 AgrOrtholog
COSMIC SLC44A4 COSMIC
Ensembl Genes ENSG00000204385 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000206378 UniProtKB/Swiss-Prot
  ENSG00000228263 UniProtKB/Swiss-Prot
  ENSG00000229077 UniProtKB/Swiss-Prot
  ENSG00000231479 UniProtKB/Swiss-Prot
  ENSG00000232180 UniProtKB/Swiss-Prot
  ENSG00000235336 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000229729 ENTREZGENE
  ENST00000229729.11 UniProtKB/Swiss-Prot
  ENST00000375562 ENTREZGENE
  ENST00000375562.8 UniProtKB/Swiss-Prot
  ENST00000383379.8 UniProtKB/Swiss-Prot
  ENST00000415517.6 UniProtKB/Swiss-Prot
  ENST00000417894.6 UniProtKB/Swiss-Prot
  ENST00000425238.6 UniProtKB/Swiss-Prot
  ENST00000442152.6 UniProtKB/Swiss-Prot
  ENST00000453831.6 UniProtKB/Swiss-Prot
  ENST00000544672 ENTREZGENE
  ENST00000544672.5 UniProtKB/Swiss-Prot
  ENST00000546461.3 UniProtKB/Swiss-Prot
  ENST00000547493.1 UniProtKB/Swiss-Prot
  ENST00000547684.1 UniProtKB/Swiss-Prot
  ENST00000548188.1 UniProtKB/Swiss-Prot
  ENST00000549663.5 UniProtKB/Swiss-Prot
  ENST00000549677.5 UniProtKB/Swiss-Prot
  ENST00000550401.2 UniProtKB/Swiss-Prot
  ENST00000551168.3 UniProtKB/Swiss-Prot
  ENST00000553121.5 UniProtKB/Swiss-Prot
GTEx ENSG00000204385 GTEx
  ENSG00000206378 GTEx
  ENSG00000228263 GTEx
  ENSG00000229077 GTEx
  ENSG00000231479 GTEx
  ENSG00000232180 GTEx
  ENSG00000235336 GTEx
HGNC ID HGNC:13941 ENTREZGENE
Human Proteome Map SLC44A4 Human Proteome Map
InterPro Choline_transptr-like UniProtKB/Swiss-Prot
KEGG Report hsa:80736 UniProtKB/Swiss-Prot
NCBI Gene 80736 ENTREZGENE
OMIM 606107 OMIM
PANTHER CHOLINE TRANSPORTER-LIKE PROTEIN 4 UniProtKB/Swiss-Prot
  PTHR12385 UniProtKB/Swiss-Prot
Pfam Choline_transpo UniProtKB/Swiss-Prot
PharmGKB PA25930 PharmGKB
RNAcentral URS00009B9A04 RNACentral
  URS0002617BB2 RNACentral
  URS0002617E54 RNACentral
UniProt A0A0G2JIN1_HUMAN UniProtKB/TrEMBL
  A0A0G2JL76 ENTREZGENE, UniProtKB/TrEMBL
  A0A140VJH4 ENTREZGENE, UniProtKB/TrEMBL
  A0A1U9X8K1 ENTREZGENE, UniProtKB/TrEMBL
  A0A1U9X8K7 ENTREZGENE, UniProtKB/TrEMBL
  A2BED3 ENTREZGENE
  B0UXX8 ENTREZGENE
  B0UZY8 ENTREZGENE
  B4DU94 ENTREZGENE
  B4DWM2 ENTREZGENE
  CTL4_HUMAN UniProtKB/Swiss-Prot
  E9PEK7 ENTREZGENE
  H0Y5I3_HUMAN UniProtKB/TrEMBL
  Q53GD3 ENTREZGENE
  Q5JP84 ENTREZGENE
  Q5JQ93 ENTREZGENE
  Q658S8 ENTREZGENE
  Q6UX89 ENTREZGENE
  Q8TEW4 ENTREZGENE
  Q96C58 ENTREZGENE
  Q96K59 ENTREZGENE
  Q9Y332 ENTREZGENE
UniProt Secondary A2BED3 UniProtKB/Swiss-Prot
  B0UXX8 UniProtKB/Swiss-Prot
  B0UZY8 UniProtKB/Swiss-Prot
  B4DU94 UniProtKB/Swiss-Prot
  B4DWM2 UniProtKB/Swiss-Prot
  E9PEK7 UniProtKB/Swiss-Prot
  Q5JP84 UniProtKB/Swiss-Prot
  Q5JQ93 UniProtKB/Swiss-Prot
  Q658S8 UniProtKB/Swiss-Prot
  Q6UX89 UniProtKB/Swiss-Prot
  Q8TEW4 UniProtKB/Swiss-Prot
  Q96C58 UniProtKB/Swiss-Prot
  Q96K59 UniProtKB/Swiss-Prot
  Q9Y332 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 SLC44A4  solute carrier family 44 member 4    solute carrier family 44, member 4  Symbol and/or name change 5135510 APPROVED