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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2301416          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_014481.2:c.421C>T
NP_055296.2:p.Arg141Cys
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 ss35038406 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2301416 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
ss3247378YUSUKE|IMS-JST057463fwd/TA/Gctcagtagcagggagatatgagctattaccgatcttatgctgtgtgaggagggccctgcc09/05/0110/10/03100Genomicunknown
ss35038406EGP_SNPS|APEX2-004104byFreqrev/BC/Tggcagggccctcctcacacagcataagatcggtaatagctcatatctccctgctactgag02/28/0511/02/06125Genomicunknown
ss74819340AFFY|SNP_M-320586fwd/TA/Gctcagtagcagggagatatgagctattaccgatcttatgctgtgtgaggagggccctgcc08/09/0708/09/07128Genomicunknown
ss74874747ILLUMINA|ILMN_Human_1M_rs2301416fwd/TA/Gctcagtagcagggagatatgagctattaccgatcttatgctgtgtgaggagggccctgcc08/28/0708/29/07129Genomicunknown
ss86348782CANCER-GENOME|27151rev/BC/Tggcagggccctcctcacacagcataagatcggtaatagctcatatctccctgctactgag01/25/0801/25/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2301416|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 TTTTGAGATG TCTATGGTAA TAAGAGCTGG ATCACTAGGC CAGCCCCACA TTGTAGAGAT
 GGAAACTCAA GCTTCAGAGG GGGGAAAAAT TTGCCAGGGT CACACACTGA GTAGCCCAGC
 CAGGACTAAA CCAGGAAAGG CAAATTTGGG AACTTCTCCA CGGTGCATGT ATGTTTACAT
 GGCAAGCCTT AGAATCTTCA CACTCAAAGA GTAGCACCAG CAGTGCTCAG TAGCAGGGAG
 ATATGAGCTA TTACC
 R
 GATCTTATGC TGTGTGAGGA GGGCCCTGCC CTCACTATCC AGAGCCCGGA GTTCCTCTTG
 GGTAAACTCA TCCATGTTTC CATAGCAACC AACATCCCCA TTCTGGGTGG CAAACAGGCC
 ACTCAGGCCT TCTTCAGCAG CCACTGGGGT AGCATTGTCC TTACAGAAGG TGGCTACACC
 TGGGAACAGA CAGGGCACTC TGAGCAGACC TGGCAGTCAA TAGCCTGTTG CACAGCCTGT
 CCCACTCCAA TTGTC

  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
Z83821.1
dbSNP Blast Analysis
UniGene Cluster ID
154149

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 G/G
 HWP A
 G
ss35038406 HapMap-CEU European 116 IG 1.000 1.000
HapMap-HCB Asian 88 IG 1.000 1.000
HapMap-JPT Asian 86 IG 0.023 0.977 0.001 0.023 0.977
HapMap-YRI Sub-Saharan African 116 IG 1.000 1.000
EGP_YORUB-PANEL Sub-Saharan African 18 IG 0.500 1.000
EGP_HISP-PANEL Hispanic 44 IG 1.000 1.000
EGP_CEPH-PANEL European 36 IG 0.636 1.000
EGP_AD-PANEL African American 18 IG 0.200 1.000
EGP_ASIAN-PANEL Asian 36 IG 0.500 1.000 0.028 0.972

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.008+/-0.061 729 586 58 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 YES

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Revised: May 25, 2006 1:38 PM .