SPTLC1 (serine palmitoyltransferase long chain base subunit 1) - Rat Genome Database

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Gene: SPTLC1 (serine palmitoyltransferase long chain base subunit 1) Homo sapiens
Analyze
Symbol: SPTLC1
Name: serine palmitoyltransferase long chain base subunit 1
RGD ID: 1315336
HGNC Page HGNC
Description: Contributes to serine C-palmitoyltransferase activity. Acts upstream of or within ceramide biosynthetic process and positive regulation of lipophagy. Located in endoplasmic reticulum. Part of SPOTS complex. Implicated in hereditary sensory and autonomic neuropathy type 1A.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: hLCB1; HSAN; HSAN1; HSN1; LBC1; LCB 1; LCB1; long chain base biosynthesis protein 1; MGC14645; serine C-palmitoyltransferase; serine palmitoyltransferase 1; serine palmitoyltransferase, long chain base subunit 1; serine-palmitoyl-CoA transferase 1; SPT 1; SPT1; SPTI
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SPTLC1P1   SPTLC1P2   SPTLC1P3   SPTLC1P4   SPTLC1P5  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl992,000,087 - 92,115,413 (-)EnsemblGRCh38hg38GRCh38
GRCh38992,031,141 - 92,115,413 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37994,793,429 - 94,877,695 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36993,833,248 - 93,917,511 (-)NCBINCBI36hg18NCBI36
Build 34991,920,900 - 91,957,245NCBI
Celera965,229,735 - 65,313,999 (-)NCBI
Cytogenetic Map9q22.31NCBI
HuRef964,471,097 - 64,555,697 (-)NCBIHuRef
CHM1_1994,939,836 - 95,024,218 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:9363775   PMID:10713067   PMID:10722674   PMID:10722759   PMID:11242106   PMID:11242114   PMID:11479835   PMID:12445191   PMID:12477932   PMID:14152213   PMID:15037712   PMID:15164053  
PMID:15467453   PMID:16210380   PMID:16344560   PMID:17110338   PMID:17194770   PMID:17314511   PMID:17331073   PMID:17353931   PMID:17982236   PMID:18018475   PMID:18484747   PMID:19132419  
PMID:19362163   PMID:19416851   PMID:19592499   PMID:19651702   PMID:19923297   PMID:20097765   PMID:20182505   PMID:20301564   PMID:20562859   PMID:20634891   PMID:21618344   PMID:21857022  
PMID:21873635   PMID:22268729   PMID:22302274   PMID:22688191   PMID:22810586   PMID:23025307   PMID:23629659   PMID:23798571   PMID:23956138   PMID:24247255   PMID:24673574   PMID:24797263  
PMID:24981860   PMID:25140149   PMID:25332431   PMID:25437307   PMID:25567748   PMID:25691431   PMID:26275350   PMID:26446223   PMID:26472760   PMID:26496610   PMID:26549023   PMID:26681808  
PMID:26972000   PMID:27025967   PMID:27320910   PMID:27609421   PMID:28065597   PMID:28108287   PMID:29142217   PMID:29180619   PMID:29229926   PMID:29507755   PMID:29615496   PMID:29955894  
PMID:30166453   PMID:30352685   PMID:30442662   PMID:30463901   PMID:30619736   PMID:30700557   PMID:30833792   PMID:30948266   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31240132  
PMID:31266804   PMID:31509666   PMID:31512789   PMID:31554600   PMID:31586073   PMID:31617661   PMID:31741433   PMID:31753913   PMID:31980649   PMID:32203420   PMID:32694731   PMID:32838362  
PMID:32877691   PMID:33001583   PMID:33558762   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
SPTLC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl992,000,087 - 92,115,413 (-)EnsemblGRCh38hg38GRCh38
GRCh38992,031,141 - 92,115,413 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37994,793,429 - 94,877,695 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36993,833,248 - 93,917,511 (-)NCBINCBI36hg18NCBI36
Build 34991,920,900 - 91,957,245NCBI
Celera965,229,735 - 65,313,999 (-)NCBI
Cytogenetic Map9q22.31NCBI
HuRef964,471,097 - 64,555,697 (-)NCBIHuRef
CHM1_1994,939,836 - 95,024,218 (-)NCBICHM1_1
Sptlc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391353,486,784 - 53,531,453 (-)NCBIGRCm39mm39
GRCm39 Ensembl1353,486,784 - 53,531,433 (-)Ensembl
GRCm381353,332,748 - 53,377,417 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1353,332,748 - 53,377,397 (-)EnsemblGRCm38mm10GRCm38
MGSCv371353,428,117 - 53,472,730 (-)NCBIGRCm37mm9NCBIm37
MGSCv361353,340,282 - 53,384,895 (-)NCBImm8
Celera1354,411,645 - 54,456,357 (-)NCBICelera
Cytogenetic Map13B1NCBI
Sptlc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21711,877,249 - 11,916,295 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1711,877,249 - 11,916,295 (+)Ensembl
Rnor_6.01711,856,525 - 11,895,566 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1711,856,525 - 11,895,566 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01713,956,140 - 13,995,224 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41717,576,401 - 17,615,246 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11717,599,561 - 17,613,645 (+)NCBI
Celera1711,642,596 - 11,681,492 (+)NCBICelera
Cytogenetic Map17p14NCBI
Sptlc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495551557,711 - 161,611 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495551557,711 - 161,012 (+)NCBIChiLan1.0ChiLan1.0
SPTLC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1991,185,574 - 91,213,003 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0963,087,798 - 63,174,977 (-)NCBIMhudiblu_PPA_v0panPan3
SPTLC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1194,997,240 - 95,062,424 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl194,997,290 - 95,064,468 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha195,445,084 - 95,510,150 (+)NCBI
ROS_Cfam_1.0195,597,902 - 95,649,028 (+)NCBI
UMICH_Zoey_3.1195,224,979 - 95,289,739 (+)NCBI
UNSW_CanFamBas_1.0194,951,482 - 95,016,318 (+)NCBI
UU_Cfam_GSD_1.0195,710,467 - 95,775,506 (+)NCBI
Sptlc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494413,566,496 - 13,627,827 (-)NCBI
SpeTri2.0NW_004936796886,946 - 948,254 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SPTLC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl143,081,969 - 3,138,103 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1143,081,964 - 3,138,113 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2143,956,042 - 4,012,182 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SPTLC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112102,475,437 - 102,551,401 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl12102,475,415 - 102,551,322 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603890,728,707 - 90,804,273 (-)NCBIVero_WHO_p1.0
Sptlc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624868317,992 - 393,776 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
G19655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,793,529 - 94,793,669UniSTSGRCh37
Build 36993,833,350 - 93,833,490RGDNCBI36
Celera965,229,837 - 65,229,977RGD
Cytogenetic Map9q22.2UniSTS
HuRef964,471,210 - 64,471,350UniSTS
A001U11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,793,529 - 94,793,669UniSTSGRCh37
Build 36993,833,350 - 93,833,490RGDNCBI36
Celera965,229,837 - 65,229,977RGD
Cytogenetic Map9q22.2UniSTS
HuRef964,471,210 - 64,471,350UniSTS
GeneMap99-GB4 RH Map9315.93UniSTS
NCBI RH Map9773.4UniSTS
G17347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,793,605 - 94,793,747UniSTSGRCh37
Build 36993,833,426 - 93,833,568RGDNCBI36
Celera965,229,913 - 65,230,055RGD
Cytogenetic Map9q22.2UniSTS
HuRef964,471,286 - 64,471,428UniSTS
D9S1996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,837,913 - 94,838,063UniSTSGRCh37
Build 36993,877,734 - 93,877,884RGDNCBI36
Celera965,274,221 - 65,274,371RGD
Cytogenetic Map9q22.2UniSTS
HuRef964,515,588 - 64,515,738UniSTS
Whitehead-RH Map9349.2UniSTS
Whitehead-YAC Contig Map9 UniSTS
NCBI RH Map9779.6UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
RH26813  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1p32.3UniSTS
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
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
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Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
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Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
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Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
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Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
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Cytogenetic Map9p12UniSTS
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Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
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Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
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Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
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Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
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Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
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Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
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
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS
G44365  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map1p35.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:981
Count of miRNA genes:696
Interacting mature miRNAs:757
Transcripts:ENST00000262554, ENST00000337841, ENST00000461132, ENST00000469778, ENST00000477888, ENST00000482632, ENST00000488921
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2299 1763 1377 322 1442 165 3588 946 2535 342 1399 1603 170 1203 2021 4
Low 135 1221 346 301 507 299 768 1249 1177 76 53 6 2 1 767 1
Below cutoff 1 1 1 1 14 3 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001281303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF147304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA305642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EC564300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262554   ⟹   ENSP00000262554
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,031,147 - 92,115,413 (-)Ensembl
RefSeq Acc Id: ENST00000337841   ⟹   ENSP00000337635
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,079,061 - 92,115,383 (-)Ensembl
RefSeq Acc Id: ENST00000461132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,108,160 - 92,115,338 (-)Ensembl
RefSeq Acc Id: ENST00000469778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,032,354 - 92,038,458 (-)Ensembl
RefSeq Acc Id: ENST00000477888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,079,853 - 92,108,768 (-)Ensembl
RefSeq Acc Id: ENST00000482632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,059,179 - 92,115,384 (-)Ensembl
RefSeq Acc Id: ENST00000488921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,107,801 - 92,115,382 (-)Ensembl
RefSeq Acc Id: ENST00000642671   ⟹   ENSP00000495764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,000,942 - 92,080,076 (-)Ensembl
RefSeq Acc Id: ENST00000643599   ⟹   ENSP00000494770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,000,087 - 92,080,076 (-)Ensembl
RefSeq Acc Id: ENST00000644140   ⟹   ENSP00000493933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,031,272 - 92,115,374 (-)Ensembl
RefSeq Acc Id: ENST00000646481   ⟹   ENSP00000496627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,028,458 - 92,080,076 (-)Ensembl
RefSeq Acc Id: ENST00000646534   ⟹   ENSP00000495388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,031,146 - 92,115,373 (-)Ensembl
RefSeq Acc Id: NM_001281303   ⟹   NP_001268232
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38992,031,147 - 92,115,413 (-)NCBI
HuRef964,471,097 - 64,555,697 (-)NCBI
CHM1_1994,939,836 - 95,024,218 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368272   ⟹   NP_001355201
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38992,031,147 - 92,115,413 (-)NCBI
RefSeq Acc Id: NM_001368273   ⟹   NP_001355202
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38992,031,147 - 92,115,413 (-)NCBI
RefSeq Acc Id: NM_006415   ⟹   NP_006406
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38992,031,147 - 92,115,413 (-)NCBI
Build 36993,833,248 - 93,917,511 (-)NCBI Archive
HuRef964,471,097 - 64,555,697 (-)NCBI
CHM1_1994,939,836 - 95,024,218 (-)NCBI
Sequence:
RefSeq Acc Id: NM_178324   ⟹   NP_847894
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38992,079,061 - 92,115,413 (-)NCBI
GRCh37994,793,416 - 94,877,756 (-)NCBI
Build 36993,881,167 - 93,917,511 (-)NCBI Archive
HuRef964,471,097 - 64,555,697 (-)NCBI
CHM1_1994,987,794 - 95,024,218 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518138   ⟹   XP_011516440
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38992,046,096 - 92,115,406 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014201   ⟹   XP_016869690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38992,031,141 - 92,115,387 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447378   ⟹   XP_024303146
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38992,031,141 - 92,071,240 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447379   ⟹   XP_024303147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38992,031,141 - 92,077,009 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006406   ⟸   NM_006415
- Peptide Label: isoform a
- UniProtKB: O15269 (UniProtKB/Swiss-Prot),   A0A024R277 (UniProtKB/TrEMBL),   Q6NUL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_847894   ⟸   NM_178324
- Peptide Label: isoform b
- UniProtKB: O15269 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001268232   ⟸   NM_001281303
- Peptide Label: isoform c
- UniProtKB: O15269 (UniProtKB/Swiss-Prot),   Q6NUL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011516440   ⟸   XM_011518138
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869690   ⟸   XM_017014201
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024303147   ⟸   XM_024447379
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024303146   ⟸   XM_024447378
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001355201   ⟸   NM_001368272
- Peptide Label: isoform d
RefSeq Acc Id: NP_001355202   ⟸   NM_001368273
- Peptide Label: isoform e
RefSeq Acc Id: ENSP00000337635   ⟸   ENST00000337841
RefSeq Acc Id: ENSP00000495764   ⟸   ENST00000642671
RefSeq Acc Id: ENSP00000494770   ⟸   ENST00000643599
RefSeq Acc Id: ENSP00000262554   ⟸   ENST00000262554
RefSeq Acc Id: ENSP00000493933   ⟸   ENST00000644140
RefSeq Acc Id: ENSP00000496627   ⟸   ENST00000646481
RefSeq Acc Id: ENSP00000495388   ⟸   ENST00000646534
Protein Domains
Aminotran_1_2

Promoters
RGD ID:7215489
Promoter ID:EPDNEW_H13476
Type:initiation region
Name:SPTLC1_1
Description:serine palmitoyltransferase long chain base subunit 1
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
GRCh38992,115,386 - 92,115,446EPDNEW
RGD ID:6808265
Promoter ID:HG_KWN:64004
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006415,   OTTHUMT00000055554,   OTTHUMT00000055555,   OTTHUMT00000055556,   OTTHUMT00000055557,   OTTHUMT00000055558,   UC004ARM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36993,917,236 - 93,917,736 (-)MPROMDB
RGD ID:6851236
Promoter ID:EP73416
Type:initiation region
Name:HS_SPTLC1
Description:Serine palmitoyltransferase, long chain base subunit 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36993,917,489 - 93,917,549EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006415.4(SPTLC1):c.51T>G (p.Leu17=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000548424] Chr9:92115320 [GRCh38]
Chr9:94877602 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.919A>G (p.Met307Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000530469] Chr9:92047678 [GRCh38]
Chr9:94809960 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1190A>T (p.Gln397Leu) single nucleotide variant not provided [RCV000522227] Chr9:92038312 [GRCh38]
Chr9:94800594 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.428A>T (p.Asp143Val) single nucleotide variant not provided [RCV000523801] Chr9:92068098 [GRCh38]
Chr9:94830380 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.118_123del (p.Phe40_Ser41del) deletion Amyotrophic lateral sclerosis [RCV001579316] Chr9:92112497..92112502 [GRCh38]
Chr9:94874779..94874784 [GRCh37]
Chr9:9q22.31
likely pathogenic
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174074]|Hereditary sensory and autonomic neuropathy type 1 [RCV000871430]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249820]|not provided [RCV001722441] Chr9:92112500 [GRCh38]
Chr9:94874782 [GRCh37]
Chr9:9q22.31
benign|likely benign|uncertain significance
NM_006415.4(SPTLC1):c.889-6C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000552039] Chr9:92047714 [GRCh38]
Chr9:94809996 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1012T>A (p.Ser338Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000543042] Chr9:92047241 [GRCh38]
Chr9:94809523 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.310G>C (p.Ala104Pro) single nucleotide variant not provided [RCV000519801] Chr9:92080914 [GRCh38]
Chr9:94843196 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001027483]|Hereditary sensory and autonomic neuropathy type 1 [RCV000005067]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249800] Chr9:92080045 [GRCh38]
Chr9:94842327 [GRCh37]
Chr9:9q22.31
pathogenic|uncertain significance
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174070]|Hereditary sensory and autonomic neuropathy type 1 [RCV000005068]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249799]|not provided [RCV000235837] Chr9:92068095 [GRCh38]
Chr9:94830377 [GRCh37]
Chr9:9q22.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789583]|Hereditary sensory and autonomic neuropathy type 1 [RCV000005069]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249812]|not provided [RCV001310659] Chr9:92038342 [GRCh38]
Chr9:94800624 [GRCh37]
Chr9:9q22.31
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174071]|Hereditary sensory and autonomic neuropathy type 1 [RCV000005070]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249798]|Sensorimotor neuropathy [RCV001004021] Chr9:92080044 [GRCh38]
Chr9:94842326 [GRCh37]
Chr9:9q22.31
pathogenic
NM_006415.4(SPTLC1):c.992C>T (p.Ser331Phe) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type IA, severe [RCV000005071] Chr9:92047261 [GRCh38]
Chr9:94809543 [GRCh37]
Chr9:9q22.31
pathogenic
NM_006415.4(SPTLC1):c.1055C>T (p.Ala352Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001321436]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV000005072] Chr9:92047198 [GRCh38]
Chr9:94809480 [GRCh37]
Chr9:9q22.31
pathogenic|uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.31(chr9:91935027-92331095)x3 copy number gain See cases [RCV000052234] Chr9:91935027..92331095 [GRCh38]
Chr9:94697309..95093377 [GRCh37]
Chr9:93737130..94133198 [NCBI36]
Chr9:9q22.31
uncertain significance
GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1 copy number loss See cases [RCV000052916] Chr9:91596533..97018746 [GRCh38]
Chr9:94358815..99781028 [GRCh37]
Chr9:93398636..98820849 [NCBI36]
Chr9:9q22.31-22.33
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32
pathogenic
NM_006415.3(SPTLC1):c.561-302A>T single nucleotide variant Lung cancer [RCV000108489] Chr9:92059610 [GRCh38]
Chr9:94821892 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.3(SPTLC1):c.165+723A>G single nucleotide variant Lung cancer [RCV000108490] Chr9:92111732 [GRCh38]
Chr9:94874014 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.560+16G>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001172881]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV000609452]|not specified [RCV000128282] Chr9:92067950 [GRCh38]
Chr9:94830232 [GRCh37]
Chr9:9q22.31
benign
NM_006415.4(SPTLC1):c.781-6A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001172882]|Hereditary sensory and autonomic neuropathy type 1 [RCV000356423]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249805]|not specified [RCV000202714] Chr9:92050073 [GRCh38]
Chr9:94812355 [GRCh37]
Chr9:9q22.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_006415.4(SPTLC1):c.261C>T (p.Gly87=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000873625]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001285418]|not provided [RCV001697126]|not specified [RCV000178270] Chr9:92080963 [GRCh38]
Chr9:94843245 [GRCh37]
Chr9:9q22.31
likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.31(chr9:92094765-92337566)x3 copy number gain See cases [RCV000143043] Chr9:92094765..92337566 [GRCh38]
Chr9:94857047..95099848 [GRCh37]
Chr9:93896868..94139669 [NCBI36]
Chr9:9q22.31
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_006415.4(SPTLC1):c.1072G>C (p.Glu358Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000191132] Chr9:92047181 [GRCh38]
Chr9:94809463 [GRCh37]
Chr9:9q22.31
likely pathogenic
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174091]|Hereditary sensory and autonomic neuropathy type 1 [RCV000290677]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249810]|not provided [RCV000756719]|not specified [RCV000405876] Chr9:92032476 [GRCh38]
Chr9:94794758 [GRCh37]
Chr9:9q22.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_006415.4(SPTLC1):c.1159G>T (p.Gly387Trp) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000546607] Chr9:92038343 [GRCh38]
Chr9:94800625 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.784A>G (p.Lys262Glu) single nucleotide variant not provided [RCV000219590] Chr9:92050064 [GRCh38]
Chr9:94812346 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.208G>T (p.Val70Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000534413]|Inborn genetic diseases [RCV000624408]|not provided [RCV000217685] Chr9:92108792 [GRCh38]
Chr9:94871074 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.889-5G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001042481]|not provided [RCV000235366] Chr9:92047713 [GRCh38]
Chr9:94809995 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.58G>T (p.Ala20Ser) single nucleotide variant not provided [RCV000236861] Chr9:92112562 [GRCh38]
Chr9:94874844 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_006415.4(SPTLC1):c.*1009G>T single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000267753] Chr9:92031456 [GRCh38]
Chr9:94793738 [GRCh37]
Chr9:9q22.31
benign|likely benign
NM_006415.4(SPTLC1):c.*483A>G single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000368592] Chr9:92031982 [GRCh38]
Chr9:94794264 [GRCh37]
Chr9:9q22.31
benign|likely benign
NM_006415.4(SPTLC1):c.*1154T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000303292] Chr9:92031311 [GRCh38]
Chr9:94793593 [GRCh37]
Chr9:9q22.31
benign|likely benign
null single nucleotide variant Charcot-Marie-Tooth disease [RCV001172884]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV000397308]|not provided [RCV001675889] Chr9:92045987 [GRCh38]
Chr9:94808269 [GRCh37]
Chr9:9q22.31
benign
NM_006415.4(SPTLC1):c.640A>G (p.Met214Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000397298]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249804] Chr9:92059229 [GRCh38]
Chr9:94821511 [GRCh37]
Chr9:9q22.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006415.4(SPTLC1):c.1221A>G (p.Gln407=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000286419]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249807]|not specified [RCV000611846] Chr9:92038281 [GRCh38]
Chr9:94800563 [GRCh37]
Chr9:9q22.31
likely benign|uncertain significance
NM_006415.4(SPTLC1):c.*750C>T single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000304227] Chr9:92031715 [GRCh38]
Chr9:94793997 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.*1226G>T single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000347616] Chr9:92031239 [GRCh38]
Chr9:94793521 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.*1170T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000398133] Chr9:92031295 [GRCh38]
Chr9:94793577 [GRCh37]
Chr9:9q22.31
benign|likely benign
NM_006415.4(SPTLC1):c.*178T>A single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000325747] Chr9:92032287 [GRCh38]
Chr9:94794569 [GRCh37]
Chr9:9q22.31
benign|likely benign
NM_006415.4(SPTLC1):c.*1302T>G single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000306296] Chr9:92031163 [GRCh38]
Chr9:94793445 [GRCh37]
Chr9:9q22.31
benign
NM_006415.4(SPTLC1):c.*190A>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000289325] Chr9:92032275 [GRCh38]
Chr9:94794557 [GRCh37]
Chr9:9q22.31
benign|likely benign
NM_006415.4(SPTLC1):c.*451G>A single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000273929] Chr9:92032014 [GRCh38]
Chr9:94794296 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.*631G>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000354421] Chr9:92031834 [GRCh38]
Chr9:94794116 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1254+10C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001172886]|Hereditary sensory and autonomic neuropathy type 1 [RCV000402445]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249808]|not specified [RCV000423230] Chr9:92038238 [GRCh38]
Chr9:94800520 [GRCh37]
Chr9:9q22.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_006415.4(SPTLC1):c.*605T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000259640] Chr9:92031860 [GRCh38]
Chr9:94794142 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.-27C>T single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000332796] Chr9:92115397 [GRCh38]
Chr9:94877679 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.*445A>G single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000333750] Chr9:92032020 [GRCh38]
Chr9:94794302 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.*1093G>A single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000358008] Chr9:92031372 [GRCh38]
Chr9:94793654 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.58-9C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000277993]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249801] Chr9:92112571 [GRCh38]
Chr9:94874853 [GRCh37]
Chr9:9q22.31
benign|conflicting interpretations of pathogenicity|uncertain significance
null single nucleotide variant Charcot-Marie-Tooth disease [RCV001172883]|Hereditary sensory and autonomic neuropathy type 1 [RCV000313112]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249803]|not provided [RCV001613242]|not specified [RCV001699408] Chr9:92068074 [GRCh38]
Chr9:94830356 [GRCh37]
Chr9:9q22.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_006415.4(SPTLC1):c.*124A>G single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000384912] Chr9:92032341 [GRCh38]
Chr9:94794623 [GRCh37]
Chr9:9q22.31
benign|likely benign
NM_006415.4(SPTLC1):c.985-5C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000296863]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249806]|not specified [RCV000433557] Chr9:92047273 [GRCh38]
Chr9:94809555 [GRCh37]
Chr9:9q22.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_006415.4(SPTLC1):c.*200G>T single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000388418] Chr9:92032265 [GRCh38]
Chr9:94794547 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.*503C>T single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV000318606] Chr9:92031962 [GRCh38]
Chr9:94794244 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1255-7C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001172885]|Hereditary sensory and autonomic neuropathy type 1 [RCV000340964]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249809]|not provided [RCV000859311]|not specified [RCV000433492] Chr9:92034890 [GRCh38]
Chr9:94797172 [GRCh37]
Chr9:9q22.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_006415.4(SPTLC1):c.1137-23GT[6] microsatellite Charcot-Marie-Tooth disease [RCV001172887]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV000341374]|not provided [RCV000993078] Chr9:92038378..92038379 [GRCh38]
Chr9:94800660..94800661 [GRCh37]
Chr9:9q22.31
benign|likely benign
NM_005184.4(CALM3):c.183C>T (p.Asn61=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174088]|Hereditary sensory and autonomic neuropathy type 1 [RCV000367880]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249802]|not provided [RCV001705536] Chr9:92080056 [GRCh38]
Chr9:94842338 [GRCh37]
Chr9:9q22.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_006415.4(SPTLC1):c.472A>G (p.Thr158Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000791930]|not provided [RCV000489147] Chr9:92068054 [GRCh38]
Chr9:94830336 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.388G>A (p.Val130Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001040157]|not provided [RCV000488956] Chr9:92080055 [GRCh38]
Chr9:94842337 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1410C>T (p.Ala470=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001510491]|not specified [RCV000606226] Chr9:92032477 [GRCh38]
Chr9:94794759 [GRCh37]
Chr9:9q22.31
benign|likely benign
NM_006415.4(SPTLC1):c.1137-10C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000531432] Chr9:92038375 [GRCh38]
Chr9:94800657 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174073]|not provided [RCV000523970] Chr9:92047234 [GRCh38]
Chr9:94809516 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790228]|Hereditary sensory and autonomic neuropathy type 1 [RCV000795948]|Neuropathy, hereditary sensory and autonomic, type IA, severe [RCV001249813]|not provided [RCV000414705] Chr9:92047261 [GRCh38]
Chr9:94809543 [GRCh37]
Chr9:9q22.31
pathogenic|uncertain significance
NM_006415.4(SPTLC1):c.1015G>T (p.Ala339Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000557521] Chr9:92047238 [GRCh38]
Chr9:94809520 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1030_1031del (p.Leu344fs) deletion not provided [RCV000413853] Chr9:92047222..92047223 [GRCh38]
Chr9:94809504..94809505 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_006415.4(SPTLC1):c.68A>T (p.Tyr23Phe) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV001267702]|not provided [RCV000522579] Chr9:92112552 [GRCh38]
Chr9:94874834 [GRCh37]
Chr9:9q22.31
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_006415.4(SPTLC1):c.963G>A (p.Arg321=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001493053]|not provided [RCV001712268] Chr9:92047634 [GRCh38]
Chr9:94809916 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.687A>G (p.Gln229=) single nucleotide variant not provided [RCV000713494] Chr9:92059182 [GRCh38]
Chr9:94821464 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1329-9T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000560512]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249819]|not specified [RCV000424196] Chr9:92032567 [GRCh38]
Chr9:94794849 [GRCh37]
Chr9:9q22.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006415.4(SPTLC1):c.261-18A>G single nucleotide variant not specified [RCV000436382] Chr9:92080981 [GRCh38]
Chr9:94843263 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.888T>C (p.Asn296=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001464903]|not provided [RCV000914914] Chr9:92049960 [GRCh38]
Chr9:94812242 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1081+10T>C single nucleotide variant not specified [RCV000440859] Chr9:92047162 [GRCh38]
Chr9:94809444 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174084]|Hereditary sensory and autonomic neuropathy type 1 [RCV000692000]|not provided [RCV000488106] Chr9:92032485 [GRCh38]
Chr9:94794767 [GRCh37]
Chr9:9q22.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_006415.4(SPTLC1):c.165+19_165+20del deletion not specified [RCV000485386] Chr9:92112435..92112436 [GRCh38]
Chr9:94874717..94874718 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.560+16G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001172880]|not specified [RCV000607349] Chr9:92067950 [GRCh38]
Chr9:94830232 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.386del (p.Gly129fs) deletion Hereditary sensory and autonomic neuropathy type 1 [RCV000631309] Chr9:92080057 [GRCh38]
Chr9:94842339 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1020G>A (p.Ser340=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000631317] Chr9:92047233 [GRCh38]
Chr9:94809515 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.745A>G (p.Met249Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000631310] Chr9:92055440 [GRCh38]
Chr9:94817722 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.501A>G (p.Gly167=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000631315]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249822] Chr9:92068025 [GRCh38]
Chr9:94830307 [GRCh37]
Chr9:9q22.31
benign|likely benign
NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174086]|Hereditary sensory and autonomic neuropathy type 1 [RCV000541430]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249824]|not provided [RCV001696984] Chr9:92050053 [GRCh38]
Chr9:94812335 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1213C>T (p.Arg405Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000631307] Chr9:92038289 [GRCh38]
Chr9:94800571 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174082]|Hereditary sensory and autonomic neuropathy type 1 [RCV000631313]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001542677] Chr9:92047268 [GRCh38]
Chr9:94809550 [GRCh37]
Chr9:9q22.31
likely pathogenic|uncertain significance
NM_006415.4(SPTLC1):c.633T>C (p.His211=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000631314] Chr9:92059236 [GRCh38]
Chr9:94821518 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.609T>C (p.Arg203=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000926535]|not specified [RCV000608514] Chr9:92059260 [GRCh38]
Chr9:94821542 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1136+14A>T single nucleotide variant not specified [RCV000611371] Chr9:92045985 [GRCh38]
Chr9:94808267 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.354+12A>G single nucleotide variant not specified [RCV000611611] Chr9:92080858 [GRCh38]
Chr9:94843140 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.252C>T (p.Ile84=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001490027]|not provided [RCV000877490]|not specified [RCV000611637] Chr9:92108748 [GRCh38]
Chr9:94871030 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.57+13C>G single nucleotide variant not specified [RCV000609378] Chr9:92115301 [GRCh38]
Chr9:94877583 [GRCh37]
Chr9:9q22.31
likely benign
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
NM_006415.4(SPTLC1):c.393G>T (p.Gly131=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000631308] Chr9:92080050 [GRCh38]
Chr9:94842332 [GRCh37]
Chr9:9q22.31
likely benign|uncertain significance
NM_006415.4(SPTLC1):c.1214G>A (p.Arg405His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000631311]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249817] Chr9:92038288 [GRCh38]
Chr9:94800570 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790229]|Hereditary sensory and autonomic neuropathy type 1 [RCV000631312]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249816] Chr9:92047668 [GRCh38]
Chr9:94809950 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.166-7C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000631316] Chr9:92108841 [GRCh38]
Chr9:94871123 [GRCh37]
Chr9:9q22.31
likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_006415.4(SPTLC1):c.910A>G (p.Ser304Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000686440] Chr9:92047687 [GRCh38]
Chr9:94809969 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.616A>G (p.Ile206Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000686409] Chr9:92059253 [GRCh38]
Chr9:94821535 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1328G>C (p.Ser443Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000705794] Chr9:92034810 [GRCh38]
Chr9:94797092 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.472A>T (p.Thr158Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000699461]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249815] Chr9:92068054 [GRCh38]
Chr9:94830336 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.457G>T (p.Ala153Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000699575] Chr9:92068069 [GRCh38]
Chr9:94830351 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.428-1G>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000687571] Chr9:92068099 [GRCh38]
Chr9:94830381 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.139del (p.Gln47fs) deletion Hereditary sensory and autonomic neuropathy type 1 [RCV000704048] Chr9:92112481 [GRCh38]
Chr9:94874763 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174085]|Hereditary sensory and autonomic neuropathy type 1 [RCV000706729]|not provided [RCV001508626] Chr9:92032502 [GRCh38]
Chr9:94794784 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.908T>C (p.Ile303Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000687789] Chr9:92047689 [GRCh38]
Chr9:94809971 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1054G>A (p.Ala352Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000695521] Chr9:92047199 [GRCh38]
Chr9:94809481 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.310G>A (p.Ala104Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000695580]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249814] Chr9:92080914 [GRCh38]
Chr9:94843196 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.608G>A (p.Arg203His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000689486] Chr9:92059261 [GRCh38]
Chr9:94821543 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_006415.4(SPTLC1):c.789A>G (p.Leu263=) single nucleotide variant not provided [RCV000895724] Chr9:92050059 [GRCh38]
Chr9:94812341 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4:c.992C>A single nucleotide variant Neuropathy hereditary sensory and autonomic type 1 [RCV000853553] Chr9:9q22.31 pathogenic
NM_006415.4(SPTLC1):c.806C>G (p.Ala269Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001060095] Chr9:92050042 [GRCh38]
Chr9:94812324 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1036G>C (p.Ala346Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001054446] Chr9:92047217 [GRCh38]
Chr9:94809499 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1422G>A (p.Ter474=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001060405] Chr9:92032465 [GRCh38]
Chr9:94794747 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1061A>G (p.Asn354Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000951420] Chr9:92047192 [GRCh38]
Chr9:94809474 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1082-7C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000951419] Chr9:92046060 [GRCh38]
Chr9:94808342 [GRCh37]
Chr9:9q22.31
benign
NM_006415.4(SPTLC1):c.1111G>A (p.Gly371Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000907066] Chr9:92046024 [GRCh38]
Chr9:94808306 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.261-10T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001426109]|not provided [RCV000926002] Chr9:92080973 [GRCh38]
Chr9:94843255 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1347G>A (p.Thr449=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000877944] Chr9:92032540 [GRCh38]
Chr9:94794822 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1082-5T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000877986] Chr9:92046058 [GRCh38]
Chr9:94808340 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.706C>T (p.Arg236Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001044631] Chr9:92055479 [GRCh38]
Chr9:94817761 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.329G>A (p.Gly110Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001039541] Chr9:92080895 [GRCh38]
Chr9:94843177 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32
pathogenic
NC_000009.12:g.(?_92032445)_(92115390_?)dup duplication Hereditary sensory and autonomic neuropathy type 1 [RCV001032997] Chr9:94794727..94877672 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.362C>G (p.Ala121Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001035189] Chr9:92080081 [GRCh38]
Chr9:94842363 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174080]|Hereditary sensory and autonomic neuropathy type 1 [RCV000806535] Chr9:92038334 [GRCh38]
Chr9:94800616 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.813C>A (p.Ile271=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001402443]|not provided [RCV000942934] Chr9:92050035 [GRCh38]
Chr9:94812317 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.654G>A (p.Glu218=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000872871] Chr9:92059215 [GRCh38]
Chr9:94821497 [GRCh37]
Chr9:9q22.31
benign
NM_006415.4(SPTLC1):c.888+5G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000813577] Chr9:92049955 [GRCh38]
Chr9:94812237 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.555T>G (p.Val185=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001400206]|not provided [RCV000827599] Chr9:92067971 [GRCh38]
Chr9:94830253 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.811A>C (p.Ile271Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000819354] Chr9:92050037 [GRCh38]
Chr9:94812319 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1137-6C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001078701]|not provided [RCV000842124] Chr9:92038371 [GRCh38]
Chr9:94800653 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.71A>G (p.His24Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000817108] Chr9:92112549 [GRCh38]
Chr9:94874831 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.632A>G (p.His211Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000792946] Chr9:92059237 [GRCh38]
Chr9:94821519 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9q22.31(chr9:94667669-95345847)x3 copy number gain not provided [RCV000847811] Chr9:94667669..95345847 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.52T>C (p.Tyr18His) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790230] Chr9:92115319 [GRCh38]
Chr9:94877601 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.397T>C (p.Cys133Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789582]|Hereditary sensory and autonomic neuropathy type 1 [RCV001316975]|not provided [RCV001508628] Chr9:92080046 [GRCh38]
Chr9:94842328 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.*1307C>T single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV001169456] Chr9:92031158 [GRCh38]
Chr9:94793440 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.661C>A (p.Leu221Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001165494]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249823] Chr9:92059208 [GRCh38]
Chr9:94821490 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.*797T>G single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV001166510] Chr9:92031668 [GRCh38]
Chr9:94793950 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.139C>T (p.Gln47Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000796400] Chr9:92112481 [GRCh38]
Chr9:94874763 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.388G>T (p.Val130Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174078]|Hereditary sensory and autonomic neuropathy type 1 [RCV000874259] Chr9:92080055 [GRCh38]
Chr9:94842337 [GRCh37]
Chr9:9q22.31
likely benign|uncertain significance
NM_006415.4(SPTLC1):c.707G>C (p.Arg236Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000814232] Chr9:92055478 [GRCh38]
Chr9:94817760 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.342C>A (p.Asn114Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000814497] Chr9:92080882 [GRCh38]
Chr9:94843164 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.*451G>T single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV001167031] Chr9:92032014 [GRCh38]
Chr9:94794296 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
NM_006415.4(SPTLC1):c.707G>A (p.Arg236His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001304880]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001165493] Chr9:92055478 [GRCh38]
Chr9:94817760 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del) microsatellite Neuropathy, hereditary sensory and autonomic, type 1A [RCV000988188]|not provided [RCV001560232] Chr9:92112503..92112505 [GRCh38]
Chr9:94874785..94874787 [GRCh37]
Chr9:9q22.31
likely pathogenic
NM_006415.4(SPTLC1):c.470A>G (p.Lys157Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001211708] Chr9:92068056 [GRCh38]
Chr9:94830338 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1302AGA[1] (p.Glu436del) microsatellite Charcot-Marie-Tooth disease [RCV001174081] Chr9:92034831..92034833 [GRCh38]
Chr9:94797113..94797115 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1043C>T (p.Ala348Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174076] Chr9:92047210 [GRCh38]
Chr9:94809492 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.494C>T (p.Ser165Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001236675] Chr9:92068032 [GRCh38]
Chr9:94830314 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1066A>G (p.Met356Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001240598] Chr9:92047187 [GRCh38]
Chr9:94809469 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.261-5C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001235882] Chr9:92080968 [GRCh38]
Chr9:94843250 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1219C>T (p.Gln407Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001237280] Chr9:92038283 [GRCh38]
Chr9:94800565 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1288C>T (p.Arg430Cys) single nucleotide variant not provided [RCV001572255] Chr9:92034850 [GRCh38]
Chr9:94797132 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1200G>A (p.Glu400=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001519016]|not provided [RCV000951418] Chr9:92038302 [GRCh38]
Chr9:94800584 [GRCh37]
Chr9:9q22.31
benign
NM_006415.4(SPTLC1):c.452G>A (p.Arg151His) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000875537] Chr9:92068074 [GRCh38]
Chr9:94830356 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.667G>T (p.Glu223Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001060745] Chr9:92059202 [GRCh38]
Chr9:94821484 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1160G>A (p.Gly387Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001063615]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249818] Chr9:92038342 [GRCh38]
Chr9:94800624 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.*490A>G single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV001167030] Chr9:92031975 [GRCh38]
Chr9:94794257 [GRCh37]
Chr9:9q22.31
benign
NM_006415.4(SPTLC1):c.25G>A (p.Val9Ile) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV001167096] Chr9:92115346 [GRCh38]
Chr9:94877628 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.655C>T (p.Arg219Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001059951] Chr9:92059214 [GRCh38]
Chr9:94821496 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1110C>T (p.Cys370=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV000935456] Chr9:92046025 [GRCh38]
Chr9:94808307 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1255-4A>G single nucleotide variant not provided [RCV000935371] Chr9:92034887 [GRCh38]
Chr9:94797169 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.656G>A (p.Arg219Gln) single nucleotide variant not provided [RCV001557475] Chr9:92059213 [GRCh38]
Chr9:94821495 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.58-19G>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001172879] Chr9:92112581 [GRCh38]
Chr9:94874863 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174075] Chr9:92059229 [GRCh38]
Chr9:94821511 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.993C>T (p.Ser331=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174087] Chr9:92047260 [GRCh38]
Chr9:94809542 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.483C>T (p.Ala161=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174089] Chr9:92068043 [GRCh38]
Chr9:94830325 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1259T>C (p.Met420Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174077] Chr9:92034879 [GRCh38]
Chr9:94797161 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1136+6T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001068937] Chr9:92045993 [GRCh38]
Chr9:94808275 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.378G>C (p.Lys126Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001070196] Chr9:92080065 [GRCh38]
Chr9:94842347 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.165+4C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001067127]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001249821] Chr9:92112451 [GRCh38]
Chr9:94874733 [GRCh37]
Chr9:9q22.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006415.4(SPTLC1):c.1204A>G (p.Thr402Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001040046] Chr9:92038298 [GRCh38]
Chr9:94800580 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.442T>C (p.Leu148=) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV001167095] Chr9:92068084 [GRCh38]
Chr9:94830366 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1126G>C (p.Ala376Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001238019] Chr9:92046009 [GRCh38]
Chr9:94808291 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1150A>G (p.Lys384Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001069096] Chr9:92038352 [GRCh38]
Chr9:94800634 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.451C>T (p.Arg151Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001043160] Chr9:92068075 [GRCh38]
Chr9:94830357 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9q22.31(chr9:94671200-95325631)x3 copy number gain See cases [RCV001007416] Chr9:94671200..95325631 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.876C>G (p.His292Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174072] Chr9:92049972 [GRCh38]
Chr9:94812254 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.442T>G (p.Leu148Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174079] Chr9:92068084 [GRCh38]
Chr9:94830366 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1254+8del deletion Charcot-Marie-Tooth disease [RCV001174090]|Hereditary sensory and autonomic neuropathy type 1 [RCV001450667] Chr9:92038240 [GRCh38]
Chr9:94800522 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1226T>G (p.Val409Gly) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV001169519] Chr9:92038276 [GRCh38]
Chr9:94800558 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.131dup (p.Tyr44Ter) duplication Hereditary sensory and autonomic neuropathy type 1 [RCV001045642] Chr9:92112488..92112489 [GRCh38]
Chr9:94874770..94874771 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.269G>A (p.Ser90Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001217547] Chr9:92080955 [GRCh38]
Chr9:94843237 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1329-8G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001224122] Chr9:92032566 [GRCh38]
Chr9:94794848 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.100T>G (p.Trp34Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174083] Chr9:92112520 [GRCh38]
Chr9:94874802 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.859C>T (p.Arg287Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001072018] Chr9:92049989 [GRCh38]
Chr9:94812271 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.115C>A (p.Leu39Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001216677] Chr9:92112505 [GRCh38]
Chr9:94874787 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.974T>C (p.Ile325Thr) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 1A [RCV001001250] Chr9:92047623 [GRCh38]
Chr9:94809905 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1057C>T (p.Leu353Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001361352]|Neuropathy, hereditary sensory and autonomic, type 1A [RCV001002625] Chr9:92047196 [GRCh38]
Chr9:94809478 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.649C>G (p.Leu217Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001231002] Chr9:92059220 [GRCh38]
Chr9:94821502 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.427+449G>C single nucleotide variant Microcephaly [RCV001252775] Chr9:92079567 [GRCh38]
Chr9:94841849 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1346C>T (p.Thr449Met) single nucleotide variant Childhood onset hearing loss [RCV001328035] Chr9:92032541 [GRCh38]
Chr9:94794823 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.985-3C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001299486] Chr9:92047271 [GRCh38]
Chr9:94809553 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.712A>G (p.Thr238Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001320278] Chr9:92055473 [GRCh38]
Chr9:94817755 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.367G>A (p.Ala123Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001321679] Chr9:92080076 [GRCh38]
Chr9:94842358 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.436T>G (p.Leu146Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001350467] Chr9:92068090 [GRCh38]
Chr9:94830372 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.238C>G (p.Leu80Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001338430] Chr9:92108762 [GRCh38]
Chr9:94871044 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9q22.31(chr9:94381136-94851388)x1 copy number loss Robinow syndrome, autosomal recessive [RCV001353125] Chr9:94381136..94851388 [GRCh37]
Chr9:9q22.31
likely pathogenic
NM_006415.4(SPTLC1):c.1029C>A (p.Pro343=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001391986] Chr9:92047224 [GRCh38]
Chr9:94809506 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.250A>G (p.Ile84Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001294867] Chr9:92108750 [GRCh38]
Chr9:94871032 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.690G>C (p.Lys230Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001362759] Chr9:92059179 [GRCh38]
Chr9:94821461 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.524T>C (p.Ile175Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001321682] Chr9:92068002 [GRCh38]
Chr9:94830284 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1393A>G (p.Lys465Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001346684] Chr9:92032494 [GRCh38]
Chr9:94794776 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1216G>A (p.Glu406Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001315181] Chr9:92038286 [GRCh38]
Chr9:94800568 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.685C>G (p.Gln229Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001367310] Chr9:92059184 [GRCh38]
Chr9:94821466 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1259T>G (p.Met420Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001305850] Chr9:92034879 [GRCh38]
Chr9:94797161 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.718C>T (p.Arg240Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001326648] Chr9:92055467 [GRCh38]
Chr9:94817749 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.443T>C (p.Leu148Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001338016] Chr9:92068083 [GRCh38]
Chr9:94830365 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.666A>G (p.Lys222=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001424552] Chr9:92059203 [GRCh38]
Chr9:94821485 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1023A>G (p.Leu341=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001457384] Chr9:92047230 [GRCh38]
Chr9:94809512 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1136+10A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001502440] Chr9:92045989 [GRCh38]
Chr9:94808271 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1311G>A (p.Lys437=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001486305] Chr9:92034827 [GRCh38]
Chr9:94797109 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1284G>A (p.Gln428=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001469069] Chr9:92034854 [GRCh38]
Chr9:94797136 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.474A>C (p.Thr158=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001453770] Chr9:92068052 [GRCh38]
Chr9:94830334 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.714T>G (p.Thr238=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001478761] Chr9:92055471 [GRCh38]
Chr9:94817753 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.492C>T (p.Tyr164=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001411963] Chr9:92068034 [GRCh38]
Chr9:94830316 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1329-4T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001437333] Chr9:92032562 [GRCh38]
Chr9:94794844 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.889-7C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001428486] Chr9:92047715 [GRCh38]
Chr9:94809997 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.924G>A (p.Glu308=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001447598] Chr9:92047673 [GRCh38]
Chr9:94809955 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1287G>A (p.Ala429=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001486215] Chr9:92034851 [GRCh38]
Chr9:94797133 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.651C>G (p.Leu217=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001501380] Chr9:92059218 [GRCh38]
Chr9:94821500 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1328+8G>C single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001467242] Chr9:92034802 [GRCh38]
Chr9:94797084 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.624A>G (p.Leu208=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001485338] Chr9:92059245 [GRCh38]
Chr9:94821527 [GRCh37]
Chr9:9q22.31
likely benign
NM_006415.4(SPTLC1):c.1015G>A (p.Ala339Thr) single nucleotide variant not provided [RCV001508627] Chr9:92047238 [GRCh38]
Chr9:94809520 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_006415.4(SPTLC1):c.1164G>A (p.Glu388=) single nucleotide variant Hereditary sensory and autonomic neuropathy type 1 [RCV001458045] Chr9:92038338 [GRCh38]
Chr9:94800620 [GRCh37]
Chr9:9q22.31
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11277 AgrOrtholog
COSMIC SPTLC1 COSMIC
Ensembl Genes ENSG00000090054 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000262554 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000337635 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000493933 UniProtKB/TrEMBL
  ENSP00000494770 UniProtKB/TrEMBL
  ENSP00000495388 UniProtKB/TrEMBL
  ENSP00000495764 UniProtKB/TrEMBL
  ENSP00000496627 UniProtKB/TrEMBL
Ensembl Transcript ENST00000262554 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000337841 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000642671 UniProtKB/TrEMBL
  ENST00000643599 UniProtKB/TrEMBL
  ENST00000644140 UniProtKB/TrEMBL
  ENST00000646481 UniProtKB/TrEMBL
  ENST00000646534 UniProtKB/TrEMBL
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000090054 GTEx
HGNC ID HGNC:11277 ENTREZGENE
Human Proteome Map SPTLC1 Human Proteome Map
InterPro Aminotransferase_I/II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10558 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10558 ENTREZGENE
OMIM 162400 OMIM
  605712 OMIM
Pfam Aminotran_1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36106 PharmGKB
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R277 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y4S0_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6A2_HUMAN UniProtKB/TrEMBL
  A0A2R8Y763_HUMAN UniProtKB/TrEMBL
  L8E7V1_HUMAN UniProtKB/TrEMBL
  O15269 ENTREZGENE
  Q6NUL7 ENTREZGENE, UniProtKB/TrEMBL
  SPTC1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K681 UniProtKB/Swiss-Prot
  Q5VWB4 UniProtKB/Swiss-Prot
  Q96IX6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 SPTLC1  serine palmitoyltransferase long chain base subunit 1    serine palmitoyltransferase, long chain base subunit 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 SPTLC1  serine palmitoyltransferase, long chain base subunit 1  SPTLC1  serine palmitoyltransferase, long chain base subunit 1  Symbol and/or name change 5135510 APPROVED