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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs16931938          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:123/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_001003892.1:c.409A>C
NP_001003892.1:p.Ser137Arg
NT_008583.16:g.25354722T>G
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 ss119226379 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs16931938 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
ss23635000PERLEGEN|afd2269186byFreqfwd/BG/Tgggccgcgggtctcttactgtggtcgtcgctagcgctctgtcgatgaaggctgccgccgg08/10/0409/13/04123Genomicunknown
ss74814471AFFY|SNP_M-305824fwd/BG/Tgggccgcgggtctcttactgtggtcgtcgctagcgctctgtcgatgaaggctgccgccgg08/09/0708/09/07128Genomicunknown
ss74905620ILLUMINA|ILMN_Human_1M_rs16931938fwd/BG/Tgggccgcgggtctcttactgtggtcgtcgctagcgctctgtcgatgaaggctgccgccgg08/28/0708/29/07129Genomicunknown
ss106687250BGI|BGI_rs16931938fwd/BG/Tgggccgcgggtytcttactgtggtcgtcgctagcgctctgtcgatgaaggctgccgccgg09/16/0806/17/09130Genomicunknown
ss119226379ILLUMINA-UK|NA18507_000098030_NCBI36.1_chr10_76473573fwd/BG/Tgggccgcgggtctcttactgtggtcgtcgctagcgctctgtcgatgaaggctgccgccgg01/21/0901/22/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs16931938|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 GACCTTTACC CTCGGCCACA AGCAGCCCCA GTGGCCCAGC TTTGCGACAA AGATTTCGCA
 CGCGCACATC CCGCTTCCGG CCTGGGCCTC AGACGGGGAA ACCTTGGGCT AAGGGCGGAG
 CCTAGGCTAG GGGCGGAGCC TTAGTGGGGC GGGGAAGGGG CGGGGCCTAA GCTACGGGCG
 GGGCGAGTCG GGGCGGGGCG GGGCGGGGCC GATCGGGGCG GGGCCGCGGG TCTCTTACTG
 TGGTCGTCGC
 K
 TAGCGCTCTG TCGATGAAGG CTGCCGCCGG GTAGAAGAAG ACACTGAGGT CGAAGGTGGG
 CAGGTCGTCG GCCTCCACGC CGTGGTACTG GATGTCCATG TCGCGGTAGT AGTCGGGCCC
 AGTGTCCACG TTCCAGCGGC CGTGGGCCGC GTTCAGCACG TGCGTGAACC CCGCCTTCTG
 CAGCCTATAG CGGTCCAGCG CCGTCGCCCT GGGCGCAGGG GAGAGAAATC TGTGGGCGCG
 CGGCGCCCTG

  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
NC_000010.5
dbSNP Blast Analysis
UniGene Cluster ID
535090

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group
Chrom.
Sample Cnt.
Source G/G
G/T
T/T
HWP G
T
ss23635000 AFD_EUR_PANEL European 46 IG 0.043 0.957 1.000 0.022 0.978
AFD_AFR_PANEL African American 42 IG 0.381 0.571 0.048 0.200 0.667 0.333
AFD_CHN_PANEL Asian 46 IG 0.130 0.261 0.609 0.150 0.261 0.739
HapMap-CEU European 114 IG 0.140 0.860 0.655 0.070 0.930
HapMap-HCB Asian 88 IG 0.114 0.341 0.545 0.284 0.716
HapMap-JPT Asian 86 IG 0.047 0.419 0.535 0.256 0.744
HapMap-YRI Sub-Saharan African 114 IG 0.526 0.404 0.070 0.728 0.272

Summary Average
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.445+/-0.157 1263 1052 15 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 .