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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs3735386          
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/G
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_001637.1:c.797C>G
NM_001637.2:c.797C>G
NP_001628.1:p.Ala266Gly
NT_007819.16:g.36144993G>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 ss44810807 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3735386 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
ss4921384YUSUKE|IMS-JST089265fwd/BC/Ggaatcattttgctgggagactcagctggggtcattttcacatctctcctgaatggatcac07/24/0210/10/03107Genomicunknown
ss44810807ABI|hCV11232841byFreqrev/C/Ggtgatccattcaggagagatgtgaaaatgaccccagctgagtctcccagcaaaatgattc07/19/0511/03/06126Genomicunknown
ss48411848APPLERA_GI|hCV11232841byFreqrev/C/Ggtgatccattcaggagagatgtgaaaatgaccccagctgagtctcccagcaaaatgattc09/28/0511/03/06126Genomicunknown
ss69012807PERLEGEN|PGP04778220byFreqrev/C/Ggtgatccattcaggagagatgtgaaaatgaccccagctgagtctcccagcaaaatgattc01/30/0703/31/08127Genomicunknown
ss74817236AFFY|SNP_M-315028fwd/BC/Ggaatcattttgctgggagactcagctggggtcattttcacatctctcctgaatggatcac08/09/0708/09/07128Genomicunknown
ss74908117ILLUMINA|ILMN_Human_1M_rs3735386fwd/C/Ggaatcattttgctgggagactcagctggggtcattttcacatctctcctgaatggatcac08/28/0708/29/07129Genomicunknown
ss76598092AFFY|AFFY_6_1M_SNP_A-8459175rev/C/Gagagatgtgaaaatgaccccagctgagtctcc08/28/0708/30/07130Genomicunknown
ss98255152HUMANGENOME_JCVI|1103652546544rev/C/Ggtgatccattcaggagagatgtgaaaatgaccccagctgagtctcccagcaaaatgattc03/31/0803/31/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3735386|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 AGATGTTTTA TGCTGAGCTG GGAAACACAC CTGCATCTCT ACATCTTAGC TAGCAGCTCC
 AATGGCCTGG AAATCTCATT CAGCTCCGAA ATGCTATGCC CCTCACTCTC AAACATGCGA
 AAAGTGGTAA TGCATTACTG TGAAAATGCT CGGTGCCTGG AATACACACT AGGGTATCCG
 CTCTTATAAC TACCCAGTCT GGAGGTTCCA AACTACTTGA GTGCATAAAT AATGTGAATA
 AATTGTGCTG CCTAGGTTCA CAGCCCAGGG GAATCATTTT GCTGGGAGAC TCAGCTGGGG
 S
 TCATTTTCAC ATCTCTCCTG AATGGATCAC AGCGTCGCAG ATGTCTTTGG TAAGTAATTT
 TGGCAGTAAT CATTCCAGAT GTGCTGGCCT TTGTTTTTGT TTCCTCTTGC TCTCTCTAAA
 TGGGATGCCA ACTCCACACA GGTGCAAATT TCCCTCTTTA GCAAAATCTG CCATGAAAGG
 CATATCCACA GTCATTTCAG TCCTAGACAA ATGGCAAAAG GTTCCTTCTA CTCACCTCCC
 CAGCCTCAGC CCAGCTGCTG CCAGGAACCC TGAAGGCAGC AGTGGGGAGT CAAGAAGGTG

  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_007819.1 ABBA01056908
dbSNP Blast Analysis
UniGene Cluster ID
488007

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group
Chrom.
Sample Cnt.
Source C/C
C/G
HWP C
G
ss44810807 HapMap-CEU European 112 IG 0.804 0.196 0.439 0.902 0.098
HapMap-HCB Asian 86 IG 0.907 0.093 0.752 0.953 0.047
HapMap-JPT Asian 90 IG 0.933 0.067 1.000 0.967 0.033
HapMap-YRI Sub-Saharan African 118 IG 1.000 1.000
AoD_African_American 90 AF 0.940 0.060
AoD_Caucasian 92 AF 0.910 0.090
AoD_Chinese 90 AF 0.970 0.030
AoD_Japanese 90 AF 0.940 0.060
ss48411848 AGI_ASP population multiple 70 IG 0.857 0.143 0.655 0.929 0.071
ss69012807 HapMap-CEU European 120 GF 0.750 0.250 0.875 0.125
HapMap-HCB Asian 90 GF 0.867 0.133 0.933 0.067
HapMap-JPT Asian 90 GF 0.933 0.067 0.967 0.033
HapMap-YRI Sub-Saharan African 120 GF 1.000 1.000

Summary Average
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.099+/-0.200 1247 1041 270 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreq UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .