Skip to main content
NCBI
 dbSNP
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
transparent GIF
Spacer gif
BUILD 130
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs3819946          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:107/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_001130042.1:c.526A>G
NM_001130043.1:c.526A>G
NM_001134759.1:c.115A>G
NM_001889.2:c.526A>G
NM_001889.3:c.526A>G
NP_001123514.1:p.Ile176Val
NP_001123515.1:p.Ile176Val
NP_001128231.1:p.Ile39Val
NP_001880.2:p.Ile176Val
NT_032977.8:g.45147805T>C
Links , Linkout

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 ss76896636 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3819946 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
ss5006361YUSUKE|IMS-JST180575fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca08/12/0210/10/03107Genomicunknown
ss9832062BCM_SSAHASNP|chr1.NT_077924.1_132525byFreqfwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca06/27/0310/25/06116Genomicunknown
ss16253148CGAP-GAI|1505823rev/TA/Gtgccaaattgctagagcttatggcttaaagttttgggcactgctggtactgaggaaggac11/18/0311/22/03120cDNAunknown
ss19119546CSHL-HAPMAP|CSHL-HuDD-200402.chr1.NT_032977.6_36738974fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca02/20/0403/04/04120Genomicunknown
ss20545676SSAHASNP|WGSA-200403-chr1.chr1.NT_032977.6_36738974fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca03/18/0403/18/04121Genomicunknown
ss23195090PERLEGEN|afd1053851byFreqfwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca08/10/0409/13/04123Genomicunknown
ss41087803ABI|hCV2862182fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca07/16/0507/17/05126Genomicunknown
ss48419489APPLERA_GI|hCV2862182byFreqrev/TA/Gtgccaaattgctagagcttatggcttaaagttttgggcactgctggtactgaggaaggac09/28/0511/03/06126Genomicunknown
ss66714709ILLUMINA|HumanHap300v1.1_rs3819946fwd/TC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca11/09/0611/09/06127Genomicunknown
ss67306584ILLUMINA|HumanHap550v1.1_rs3819946fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca11/14/0611/14/06127Genomicunknown
ss67711791ILLUMINA|HumanHap650Yv1.0_rs3819946fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca11/14/0611/14/06127Genomicunknown
ss68770452PERLEGEN|PGP01053851byFreqfwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca01/30/0703/31/08127Genomicunknown
ss70785230ILLUMINA|HumanHap550v3.0__rs3819946fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca04/20/0703/30/08130Genomicunknown
ss71361974ILLUMINA|HumanHap650Yv3.0_rs3819946fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca04/23/0704/23/07127Genomicunknown
ss74808245AFFY|SNP_M-179723fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca08/09/0708/09/07128Genomicunknown
ss75647829ILLUMINA|ILMN_Human_1M_rs3819946fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca08/28/0708/29/07129Genomicunknown
ss76743902AFFY|AFFY_6_1M_SNP_A-8605178fwd/BC/Tccagcagtgcccaaaactttaagccataagct08/28/0708/30/07130Genomicunknown
ss76896636SI_EXO|NT_032977.8_45147805fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca09/20/0709/20/07129Genomicunknown
ss78732822HGSV|Cor18507_SNV_20070510.chr1_74887907fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca10/19/0710/20/07129Genomicunknown
ss79169732ILLUMINA|HumanHap300v2.0_rs3819946fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca04/18/0711/18/07130Genomicunknown
ss82347216HGSV|Cor18956_SNV_20070510.chr1_74887907fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca11/30/0712/02/07130Genomicunknown
ss82517965HGSV|Cor19240_SNV_20070510.chr1_74887907fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca11/30/0712/03/07130Genomicunknown
ss84198218KRIBB_YJKIM|KHS655991fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca12/04/0712/06/07130Genomicunknown
ss106577130BGI|BGI_rs3819946fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca09/16/0806/16/09130Genomicunknown
ss1106529171000GENOMES|NA19240_2008_12_16_87460_chr1_74948474fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca12/16/0812/17/08130Genomicunknown
ss118810257ILLUMINA-UK|NA18507_000085893_NCBI36.1_chr1_74948474fwd/BC/Tgtccttcctcagtaccagcagtgcccaaaactttaagccataagctctagcaatttggca01/21/0901/21/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3819946|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 AGCTGCAGCT TTACTTAGAA TGTTATTTGC ATTAAAAAAT CAATTTTTAT AGCTATAAGA
 TTCTAGAGAA GCTATATTCT ATTTAATACA CATAAACAAT ACAAAAATGA TAGTAAAAGT
 TTAAAACTTA GACATCTGTT TTTTAAATAA AGTTTTAAAA CACGCATAAA AATTCATCGC
 ACTGAAAAAA GGAAGCAAAC AGCTTTAAAG GAGTAGTTGG TTAAAAACAT ATTAAAAAAC
 CACGCAAGTC TCCAAGGAAC AAAGTTTGAC TTTTGTAAAA CAGTGGAAAA TTTTACCTTA
 ATTTTATCAA TGTAATTCAC TTCTCTGTGA TTGAACACTT CATGGGCTCC ATTTTGCAAA
 ACAATCTTTT GTCCTTCCTC AGTACCAGCA GTGCCCAAAA
 Y
 CTTTAAGCCA TAAGCTCTAG CAATTTGGCA TGCTGCTAAT CCAACCTGAA AAACAAATAT
 AACCCAAGAG TTATATATTC TCTACACTCC TGTAAACACT TAAATACATA CAATGAACTT
 AAGATTCCTA TAGGACCCAC CCTAACTTTA AGGAACTTAA GAGTGTAAAT GAAGAAATAA
 GAAAAACAGC TAACTTTAAT TGAGCATTTA AAATATTCCA GGAACCATAC TAAATAATTT
 CTACATATTG TTTTATTCTA TCCTCACAAT GACCCTATAA AGTAGATACT ATTATTGTCC
 CTATTGTACA GATAAGAAAG TTGAAGCTTC AAATTATAAG TAATTTGGCC AAGTCATATG
 CGGAGATGGA AACAGGAGTT AGACCAGTCT GACTGCAGAA

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NT_077924 BG393252
dbSNP Blast Analysis
UniGene Cluster ID
83114

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 T/T
 HWP C
 N
 T
ss23195090 AFD_EUR_PANEL European 48 IG 0.292 0.708 0.439 0.146 0.854
AFD_AFR_PANEL African American 46 IG 0.217 0.565 0.217 0.584 0.500 0.500
AFD_CHN_PANEL Asian 48 IG 0.625 0.333 0.042 1.000 0.792 0.208
ss48419489 AGI_ASP population multiple 68 IG 0.118 0.353 0.529 0.403 0.294 0.706
ss68770452 HapMap-CEU European 120 GF 0.233 0.767 0.117 0.883
HapMap-HCB Asian 90 GF 0.600 0.289 0.111 0.744 0.256
HapMap-JPT Asian 90 GF 0.689 0.244 0.067 0.811 0.189
HapMap-YRI Sub-Saharan African 120 GF 0.433 0.350 0.217 0.608 0.392
ss9832062 HapMap-CEU European 120 IG 0.233 0.767 0.317 0.117 0.883
HapMap-HCB Asian 90 IG 0.600 0.289 0.111 0.150 0.744 0.256
HapMap-JPT Asian 88 IG 0.682 0.250 0.068 0.200 0.807 0.193
HapMap-YRI Sub-Saharan African 120 IG 0.433 0.350 0.217 0.200 0.608 0.392
CHMJ Asian 74 IG 0.824 0.027 0.149

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.500+/-0.015 1300 1089 276 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

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 .