NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs351103          
refSNP ID: rs351103
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_024888.1:c.75+1390T>C
NT_011255.14:g.760095A>G
Links

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss1745259 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs351103 during BLAST analysis for the current build.

NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss446131KWOK|OVLP-000621-365121rev/BC/Tctgtgatctcaacacattgggaggcccaggagatggattgcttgagcccaagagttcaag06/30/0010/10/0379Genomic99 %
ss823487SC_JCM|AC023583.2_50135rev/BC/Tctgtgatctcaacacattgggaggcccaggagatggattgcttgagcccaagagttcaag07/27/0010/10/0385Genomicunknown
ss1007302KWOK|OVLP-000804-148555fwd/TA/Gcttgaactcttgggctcaagcaatccatctcctgggcctcccaatgtgttgagatcacag09/02/0010/10/0386Genomic97 %
ss1745259KWOK|OVLP-000925-710918byFreqfwd/TA/Gcttgaactcttgggctcaagcaatccatctcctgggcctcccaatgtgttgagatcacag10/05/0010/25/0687Genomic97 %
ss10935696BCM_SSAHASNP|chr19.NT_011255.13_760095fwd/TA/Gcttgaactcttgggctcaagcaatccatctcctgggcctcccaatgtgttgagatcacag06/30/0310/10/03116Genomicunknown
ss14716676BCM_SSAHASNP|chr19.NT_011255.14_760095fwd/TA/Gcttgaactcttgggctcaagcaatccatctcctgggcctcccaatgtgttgagatcacag11/10/0311/22/03119Genomicunknown
ss17616964CSHL-HAPMAP|CSHL-HuCC-200402.chr19.NT_011255.14_760095fwd/TA/Gcttgaactcttgggctcaagcaatccatctcctgggcctcccaatgtgttgagatcacag02/19/0403/04/04120Genomicunknown
ss41031153ABI|hCV9609139fwd/TA/Gcttgaactcttgggctcaagcaatccatctcctgggcctcccaatgtgttgagatcacag07/17/0507/17/05126Genomicunknown
ss69222187PERLEGEN|PGP04378175byFreqfwd/TA/Gcttgaactcttgggctcaagcaatccatctcctgggcctcccaatgtgttgagatcacag01/30/0708/14/07127Genomicunknown
ss77296558HGSV|Cor12156_SNV_20070510.chr19_771095fwd/TA/Gcttgaactcttgggctcaagcaatccatctcctgggcctcccaatgtgttgagatcacag10/09/0710/12/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs351103|allelePos=450|totalLen=1432|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GTGGGCAACT TAATGATATT GTGTTTGGGA GGGACCCACT TGCCCGGGTG TGAGGTAACG
 GATTACAGGC CAGCCGCTGG CCGTGTGACC TGCACGGGTC ACTGCTTCCT TGAGACTAGG
 GTCCCGTCTT CCATCGAGGC TCTGGAAGGC CCATCACTAG AGCCGGTTTT CCTGGCCTGA
 CATGCAAGGA TGGATTAAAG TTAttttatt ttttgagatg gggtctggct ctgtcatcca
 ggctgaagtg cagtggtgtg atcttggctc actgcaacct ccgccacctg ggctcaagtc
 atcctccatc tcaggctcct atgtaactga gacctcagct gcacaccacc acgcccagct
 attttttctg tttttaaaat tttgtagaga tgggtttttg ccatgttgcc caggctagtc
 ttgaactctt gggctcaagc aatccatct
 R
 cctgggcctc ccaatgtgtt gagatcacag gcgtgagcca ccaccccagc cTTAAGTTAC
 TCTACCATCC TGAGCCAGGT GTGTGCCAAA ATGGTAGCtt ttttgtttta gagacagagt
 ctctgtcatc caggctggag tgcagtggtg tgatcacaac tcactacagc ctcaacctcc
 tgggctcaag caatcctccc acctcggcct cctaagtagc tgagaataaa ggcacgcagc
 acacgcccaa ctaatatttt aattttttct gtagagatgg gatcttgctg tgttgcccag
 gttggtctca aactcctggc ctcaagtgat cctcccacct cagtctccca aagtgctggg
 attacaaaca tgacaaacgt gagccaccgc acAGGGCAGG GGGCTCCATT TATTACAttt
 attgtcttct tttttttttt ctaagacagg gccttgctct gttgcccagg ctggagtgca
 gtggcatgat ctctgctcac tgcaacctcc acctcctggg ttcaagcgat tctcctgccc
 cagcctcccg agtagctggg ctcacaggca taagccaaca tacccggcta atttttttgt
 attttttagt agagatgggg tttcaccatg ttggccaggc tggtcttgaa ctcctgccct
 caggtgatct gcccacctcg gcctcccaaa gtgctgggat tacaggcgtg agccacagtg
 cccagcctaa tttttgtatt tttaatggag aggggtttca ccatgttggc taggctggtc
 ttgaactcct gacctaggtg atccacccgc cttggcctcc caaagtgctg ggattacagg
 cgtgagccac cgcACAGGGC AAGGGGTTCC ATTTATGGTC ATAAACTCCT CACTATGTGC
 CTAACACGTT TCCGTATTCT GTAGATATTA ATTCCTATCA GCTCCAGGAG TGGAAAAGCG
 GAGGCCCAGA GAGGTTAGGG GC

  GeneView back to top
GeneView via analysis of contig annotation: PRG2 plasticity-related gene 2
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label
Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_011255->NM_024888
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_011255->NM_024888->NP_079164760095reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs351103 maps exactly once on NCBI human chromosome 19
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
19NW_001838476.1578276589077plusAalt_assembly_8HuRefHuRefview449
19NW_927173.13386744662plusAalt_assembly_1CeleraCeleraview449
19NT_011255.14760095771095plusAref_assemblyreferencereferenceview449

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011255 AC004799 AC023583.2
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1745259HapMap-CEUEuropean 118IG 0.525 0.339 0.136 0.150 0.695 0.305
HapMap-HCBAsian 90IG 0.400 0.422 0.178 0.479 0.611 0.389
HapMap-JPTAsian 88IG 0.318 0.455 0.227 0.584 0.545 0.455
HapMap-YRISub-Saharan African 116IG 0.138 0.431 0.431 0.752 0.353 0.647
ss69222187HapMap-CEUEuropean 120GF 0.333 0.533 0.133 0.600 0.400
HapMap-HCBAsian 90GF 0.022 0.778 0.200 0.411 0.589
HapMap-JPTAsian 90GF 0.111 0.644 0.244 0.433 0.567
HapMap-YRISub-Saharan African 120GF 0.083 0.500 0.417 0.333 0.667
Concordant GenotypeTotal SampleA/AA/GG/G
ss17452592194210964
ss692221872194211364
RefSNP Genotype SummaryTotal IndividualA/AA/GG/G
rs3511032704211364
Discordant Genotypes:
Indiviudal
SampleID
SubSNP(ss)GenotypePopulation
Handle
Submitter
Population
Submitter
SampleID
SampleID
Alias
Submission
Batch
NCBI
ProbeID
161ss1745259A/ACSHL-HAPMAPHapMap-CEUNA07029CEPH1340.01r23_ch19_CEU_imsut-riken:genotyping
161ss69222187A/GCSHL-HAPMAPHapMap-CEUNA07029CEPH1340.01chr19-HapMap-CEU
186ss1745259A/ACSHL-HAPMAPHapMap-CEUNA06993CEPH1341.13r23_ch19_CEU_imsut-riken:genotyping
186ss69222187A/GCSHL-HAPMAPHapMap-CEUNA06993CEPH1341.13chr19-HapMap-CEU
225ss1745259A/ACSHL-HAPMAPHapMap-CEUNA12043CEPH1346.11r23_ch19_CEU_imsut-riken:genotyping
225ss69222187A/GCSHL-HAPMAPHapMap-CEUNA12043CEPH1346.11chr19-HapMap-CEU
255ss1745259A/ACSHL-HAPMAPHapMap-CEUNA10855CEPH1350.02r23_ch19_CEU_imsut-riken:genotyping
255ss69222187A/GCSHL-HAPMAPHapMap-CEUNA10855CEPH1350.02chr19-HapMap-CEU
349ss1745259A/ACSHL-HAPMAPHapMap-CEUNA10861CEPH1362.02r23_ch19_CEU_imsut-riken:genotyping
349ss69222187A/GCSHL-HAPMAPHapMap-CEUNA10861CEPH1362.02chr19-HapMap-CEU
362ss1745259A/ACSHL-HAPMAPHapMap-CEUNA11994CEPH1362.15r23_ch19_CEU_imsut-riken:genotyping
362ss69222187A/GCSHL-HAPMAPHapMap-CEUNA11994CEPH1362.15chr19-HapMap-CEU
373ss1745259A/ACSHL-HAPMAPHapMap-CEUNA12264CEPH1375.11r23_ch19_CEU_imsut-riken:genotyping
373ss69222187A/GCSHL-HAPMAPHapMap-CEUNA12264CEPH1375.11chr19-HapMap-CEU
410ss1745259A/ACSHL-HAPMAPHapMap-CEUNA12155CEPH1408.12r23_ch19_CEU_imsut-riken:genotyping
410ss69222187A/GCSHL-HAPMAPHapMap-CEUNA12155CEPH1408.12chr19-HapMap-CEU
438ss1745259A/ACSHL-HAPMAPHapMap-CEUNA12248CEPH1416.11r23_ch19_CEU_imsut-riken:genotyping
438ss69222187A/GCSHL-HAPMAPHapMap-CEUNA12248CEPH1416.11chr19-HapMap-CEU
456ss1745259A/ACSHL-HAPMAPHapMap-CEUNA10838CEPH1420.01r23_ch19_CEU_imsut-riken:genotyping
456ss69222187A/GCSHL-HAPMAPHapMap-CEUNA10838CEPH1420.01chr19-HapMap-CEU
537ss1745259A/ACSHL-HAPMAPHapMap-CEUNA12752CEPH1447.01r23_ch19_CEU_imsut-riken:genotyping
537ss69222187A/GCSHL-HAPMAPHapMap-CEUNA12752CEPH1447.01chr19-HapMap-CEU
546ss1745259A/ACSHL-HAPMAPHapMap-CEUNA12761CEPH1447.10r23_ch19_CEU_imsut-riken:genotyping
546ss69222187A/GCSHL-HAPMAPHapMap-CEUNA12761CEPH1447.10chr19-HapMap-CEU
579ss1745259A/ACSHL-HAPMAPHapMap-CEUNA12815CEPH1454.15r23_ch19_CEU_imsut-riken:genotyping
579ss69222187A/GCSHL-HAPMAPHapMap-CEUNA12815CEPH1454.15chr19-HapMap-CEU
618ss1745259A/ACSHL-HAPMAPHapMap-CEUNA12872CEPH1459.09r23_ch19_CEU_imsut-riken:genotyping
618ss69222187A/GCSHL-HAPMAPHapMap-CEUNA12872CEPH1459.09chr19-HapMap-CEU
619ss1745259A/ACSHL-HAPMAPHapMap-CEUNA12873CEPH1459.10r23_ch19_CEU_imsut-riken:genotyping
619ss69222187A/GCSHL-HAPMAPHapMap-CEUNA12873CEPH1459.10chr19-HapMap-CEU
623ss1745259A/ACSHL-HAPMAPHapMap-CEUNA12878CEPH1463.02r23_ch19_CEU_imsut-riken:genotyping
623ss69222187A/GCSHL-HAPMAPHapMap-CEUNA12878CEPH1463.02chr19-HapMap-CEU
637ss1745259A/ACSHL-HAPMAPHapMap-CEUNA12892CEPH1463.16r23_ch19_CEU_imsut-riken:genotyping
637ss69222187A/GCSHL-HAPMAPHapMap-CEUNA12892CEPH1463.16chr19-HapMap-CEU
5151ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18558CH18558r23_ch19_HCB_imsut-riken:genotyping
5151ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18558CH18558chr19-HapMap-HCB
5152ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18532CH18532r23_ch19_HCB_imsut-riken:genotyping
5152ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18532CH18532chr19-HapMap-HCB
5154ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18562CH18562r23_ch19_HCB_imsut-riken:genotyping
5154ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18562CH18562chr19-HapMap-HCB
5156ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18603CH18603r23_ch19_HCB_imsut-riken:genotyping
5156ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18603CH18603chr19-HapMap-HCB
5157ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18540CH18540r23_ch19_HCB_imsut-riken:genotyping
5157ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18540CH18540chr19-HapMap-HCB
5161ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18572CH18572r23_ch19_HCB_imsut-riken:genotyping
5161ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18572CH18572chr19-HapMap-HCB
5164ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18550CH18550r23_ch19_HCB_imsut-riken:genotyping
5164ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18550CH18550chr19-HapMap-HCB
5169ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18564CH18564r23_ch19_HCB_imsut-riken:genotyping
5169ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18564CH18564chr19-HapMap-HCB
5173ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18612CH18612r23_ch19_HCB_imsut-riken:genotyping
5173ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18612CH18612chr19-HapMap-HCB
5174ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18571CH18571r23_ch19_HCB_imsut-riken:genotyping
5174ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18571CH18571chr19-HapMap-HCB
5176ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18621CH18621r23_ch19_HCB_imsut-riken:genotyping
5176ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18621CH18621chr19-HapMap-HCB
5178ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18622CH18622r23_ch19_HCB_imsut-riken:genotyping
5178ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18622CH18622chr19-HapMap-HCB
5179ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18573CH18573r23_ch19_HCB_imsut-riken:genotyping
5179ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18573CH18573chr19-HapMap-HCB
5180ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18623CH18623r23_ch19_HCB_imsut-riken:genotyping
5180ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18623CH18623chr19-HapMap-HCB
5181ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18576CH18576r23_ch19_HCB_imsut-riken:genotyping
5181ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18576CH18576chr19-HapMap-HCB
5183ss1745259A/GCSHL-HAPMAPHapMap-HCBNA18624CH18624r23_ch19_HCB_imsut-riken:genotyping
5183ss69222187G/GCSHL-HAPMAPHapMap-HCBNA18624CH18624chr19-HapMap-HCB
5184ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18579CH18579r23_ch19_HCB_imsut-riken:genotyping
5184ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18579CH18579chr19-HapMap-HCB
5190ss1745259A/ACSHL-HAPMAPHapMap-HCBNA18636CH18636r23_ch19_HCB_imsut-riken:genotyping
5190ss69222187A/GCSHL-HAPMAPHapMap-HCBNA18636CH18636chr19-HapMap-HCB
5195ss1745259A/ACSHL-HAPMAPHapMap-JPTNA18951JA18951r23_ch19_JPT_imsut-riken:genotyping
5195ss69222187A/GCSHL-HAPMAPHapMap-JPTNA18951JA18951chr19-HapMap-JPT
5198ss1745259A/ACSHL-HAPMAPHapMap-JPTNA18944JA18944r23_ch19_JPT_imsut-riken:genotyping
5198ss69222187A/GCSHL-HAPMAPHapMap-JPTNA18944JA18944chr19-HapMap-JPT
5205ss1745259A/ACSHL-HAPMAPHapMap-JPTNA18953JA18953r23_ch19_JPT_imsut-riken:genotyping
5205ss69222187A/GCSHL-HAPMAPHapMap-JPTNA18953JA18953chr19-HapMap-JPT
5206ss1745259A/ACSHL-HAPMAPHapMap-JPTNA18968JA18968r23_ch19_JPT_imsut-riken:genotyping
5206ss69222187A/GCSHL-HAPMAPHapMap-JPTNA18968JA18968chr19-HapMap-JPT
5212ss1745259A/GCSHL-HAPMAPHapMap-JPTNA18965JA18965r23_ch19_JPT_imsut-riken:genotyping
5212ss69222187G/GCSHL-HAPMAPHapMap-JPTNA18965JA18965chr19-HapMap-JPT
5214ss1745259A/ACSHL-HAPMAPHapMap-JPTNA18966JA18966r23_ch19_JPT_imsut-riken:genotyping
5214ss69222187A/GCSHL-HAPMAPHapMap-JPTNA18966JA18966chr19-HapMap-JPT
5222ss1745259A/ACSHL-HAPMAPHapMap-JPTNA18981JA18981r23_ch19_JPT_imsut-riken:genotyping
5222ss69222187A/GCSHL-HAPMAPHapMap-JPTNA18981JA18981chr19-HapMap-JPT
5224ss1745259A/ACSHL-HAPMAPHapMap-JPTNA18974JA18974r23_ch19_JPT_imsut-riken:genotyping
5224ss69222187A/GCSHL-HAPMAPHapMap-JPTNA18974JA18974chr19-HapMap-JPT
5229ss1745259A/ACSHL-HAPMAPHapMap-JPTNA18992JA18992r23_ch19_JPT_imsut-riken:genotyping
5229ss69222187A/GCSHL-HAPMAPHapMap-JPTNA18992JA18992chr19-HapMap-JPT
5236ss1745259A/ACSHL-HAPMAPHapMap-JPTNA19003JA19003r23_ch19_JPT_imsut-riken:genotyping
5236ss69222187A/GCSHL-HAPMAPHapMap-JPTNA19003JA19003chr19-HapMap-JPT
5241ss1745259A/ACSHL-HAPMAPHapMap-YRINA18506YOR009.01r23_ch19_YRI_imsut-riken:genotyping
5241ss69222187A/GCSHL-HAPMAPHapMap-YRINA18506YOR009.01chr19-HapMap-YRI
5243ss1745259A/ACSHL-HAPMAPHapMap-YRINA18507YOR009.03r23_ch19_YRI_imsut-riken:genotyping
5243ss69222187A/GCSHL-HAPMAPHapMap-YRINA18507YOR009.03chr19-HapMap-YRI
5263ss1745259A/ACSHL-HAPMAPHapMap-YRINA18861YOR024.02r23_ch19_YRI_imsut-riken:genotyping
5263ss69222187A/GCSHL-HAPMAPHapMap-YRINA18861YOR024.02chr19-HapMap-YRI
5280ss1745259A/ACSHL-HAPMAPHapMap-YRINA19173YOR047.01r23_ch19_YRI_imsut-riken:genotyping
5280ss69222187A/GCSHL-HAPMAPHapMap-YRINA19173YOR047.01chr19-HapMap-YRI
5282ss1745259A/ACSHL-HAPMAPHapMap-YRINA19171YOR047.03r23_ch19_YRI_imsut-riken:genotyping
5282ss69222187A/GCSHL-HAPMAPHapMap-YRINA19171YOR047.03chr19-HapMap-YRI
5307ss1745259A/ACSHL-HAPMAPHapMap-YRINA19145YOR074.01r23_ch19_YRI_imsut-riken:genotyping
5307ss69222187A/GCSHL-HAPMAPHapMap-YRINA19145YOR074.01chr19-HapMap-YRI
Genotype data submitted for270 samples from270 individualsIndividual with multiple genotypes submission:270

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION:
FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .