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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs6474226          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_020130.3:c.28A>G
NP_064515.1:p.Ile10Val
NT_007995.14:g.10331468G>A
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 ss48407632 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6474226 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
ss10463279BCM_SSAHASNP|chr8.NT_008251.13_2058391fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc06/29/0310/10/03116Genomicunknown
ss11948055WI_SSAHASNP|chr8.NT_008251.13_2058391fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc07/04/0310/10/03116Genomicunknown
ss14348258WI_SSAHASNP|chr8.NT_008251.14_2073344fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc11/05/0311/22/03119Genomicunknown
ss17239855CSHL-HAPMAP|CSHL-HuAA-200402.chr8.NT_008251.14_2073344fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc02/17/0403/04/04120Genomicunknown
ss17991002CSHL-HAPMAP|CSHL-HuCC-200402.chr8.NT_008251.14_2073344fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc02/19/0403/04/04120Genomicunknown
ss19769572CSHL-HAPMAP|CSHL-HuDD-200402.chr8.NT_008251.14_2073344fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc02/20/0403/04/04120Genomicunknown
ss22729561SSAHASNP|WGSA-200403-chr8.chr8.NT_008251.14_2073344fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc03/21/0403/21/04121Genomicunknown
ss23463606PERLEGEN|afd4313768byFreqfwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc08/10/0409/13/04123Genomicunknown
ss28510909MGC_GENOME_DIFF|BC020623x37556153-G2073344Afwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc08/25/0408/25/04126cDNAunknown
ss28510940MGC_GENOME_DIFF|BC021672x37556153-G2073344Afwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc08/25/0408/25/04126cDNAunknown
ss48407632APPLERA_GI|hCV25639159byFreqrev/BC/Tggctgactcgtagcgacgtggacatgatgaggcttggtggcttcgctttgctttcatcga09/28/0511/03/06126Genomicunknown
ss69047346PERLEGEN|PGP04313768fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc01/30/0701/30/07127Genomicunknown
ss74806590AFFY|SNP_M-176631fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc08/09/0708/09/07128Genomicunknown
ss74886235ILLUMINA|ILMN_Human_1M_rs6474226fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc08/28/0708/29/07129Genomicunknown
ss78991962HGSV|Cor18507_SNV_20070510.chr8_40130236fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc10/19/0710/21/07129Genomicunknown
ss83811406HGSV|Cor19240_SNV_20070510.chr8_40130236fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc11/30/0712/05/07130Genomicunknown
ss85438554HGSV|Cor19129_SNV_20070510.chr8_40130236fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc12/06/0712/09/07130Genomicunknown
ss93873169BCMHGSC_JDW|JWB-2455320fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc02/26/0803/05/08129Genomicunknown
ss97867796HUMANGENOME_JCVI|1103652301344fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc03/30/0803/30/08130Genomicunknown
ss105613983BGI|BGI_rs6474226fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc09/10/0806/18/09130Genomicunknown
ss1079756651000GENOMES|CEU.trio.12.15.2008_1974321_chr8_40130236fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc12/15/0812/15/08130Genomicunknown
ss1153093661000GENOMES|NA19240_2008_12_16_1781705_chr8_40130236fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc12/18/0812/19/08130Genomicunknown
ss115910607ILLUMINA-UK|NA18507_000071588_NCBI36.1_chr8_40130236fwd/TA/Gtcgatgaaagcaaagcgaagccaccaagcctcatcatgtccacgtcgctacgagtcagcc01/16/0901/17/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6474226|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 ATCCTACTGC CACATAGGAA GTAAAATGAG TACTCACAGC CTTGCGCCTA ATCACTGAAC
 ACAGCTTTTA GTAATGTTTT ACACAAGAAC AGGATATTGG CAACTCAACT GTTAAGCCTT
 TCTGTGATTA TTCTTCCTTG AGATCACTCT GATGTCACCA GTGTAATTTG AGCCTGGAGC
 TTTTGTTCAC ACTTTAAATA GCAGTCCCAG AATGATTTCA CTACAGACTC TCTGGAAAGC
 CTGGGAGCTG AATTCCGGAA GATCCCCACA TCGATGAAAG CAAAGCGAAG CCACCAAGCC
 R
 TCATCATGTC CACGTCGCTA CGAGTCAGCC CATCCATCCA TGGCTACCAC TTCGACACAG
 CCTCTCGTAA GAAAGCCGTG GGCAACATCT TTGAAAACAC AGACCAAGAA TCACTAGAAA
 GGCTCTTCAG AAACTCTGGA GACAAGAAAG CAGAGGAGAG AGCCAAGATC ATTTTTGCCA
 TAGATCAAGA TGTGGAGGAG AAAACGCGTG CCCTGATGGC CTTGAAGAAG AGGACAAAAG
 ACAAGCTTTT CCAGTTTCTG AAACTGCGGA AATATTCCAT CAAAGTTCAC TGAAGAGAAG

  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_008251 ABBA01015904 BC020623 BC021672
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 HWP A
 G
ss23463606 AFD_EUR_PANEL European 48 IG 1.000 1.000
AFD_AFR_PANEL African American 46 IG 0.783 0.217 0.584 0.891 0.109
AFD_CHN_PANEL Asian 48 IG 1.000 1.000
ss48407632 HapMap-CEU European 120 IG 1.000 1.000
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 88 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 0.983 0.017 1.000 0.992 0.008
AGI_ASP population multiple 76 IG 0.947 0.053 1.000 0.974 0.026
ss69047346 HapMap-CEU European 120 GF 1.000 1.000
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 0.983 0.017 0.992 0.008

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.017+/-0.090 964 779 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
byClusterbyFreqwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .