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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs1803524          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/130
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_005755.2:c.521C>T
NP_005746.2:p.Ala174Val
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 ss24191231 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1803524 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
ss2424171HGBASE|SNP000011539fwd/BC/Ttggatccgttacaagcgtcagggagtgcgcgcttccaccgggtggggccc11/07/0010/10/0389cDNAunknown
ss24191231PERLEGEN|afd4229607fwd/BC/Tagtactggatccgttacaagcgtcagggagtgcgcgcttccaccgggtgaggaggatgag08/10/0410/21/04123Genomicunknown
ss69222751PERLEGEN|PGP04229607byFreqfwd/BC/Tagtactggatccgttacaagcgtcagggagtgcgcgcttccaccgggtgaggaggatgag01/30/0708/14/07127Genomicunknown
ss74867948ILLUMINA|ILMN_Human_1M_rs1803524fwd/BC/Tagtactggatccgttacaagcgtcagggagtgcgcgcttccaccgggtgaggaggatgag08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1803524|allelePos=101|totalLen=201|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 GCTGAGCGCC AGCTACAGGT GCAGTGGGAG CCTCCCGGGT CCTGGCCCTT CCCAGAGATC
 TTCTCACTGA AGTACTGGAT CCGTTACA
 AGCGTCAGGG AG
 Y
 TGCGCGCTTC CA
 CCGGGTGAGG AGGATGAGGG GGAGGCTGGA AAGGGTGGTG CCTGGCAGAG GGAATGGTTT
 TTACCAAGAC TAGCAGGTGT GCTGGGCT

  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_000019.8
dbSNP Blast Analysis
UniGene Cluster ID
501452

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 HWP C
 T
ss24191231 AFD_EUR_PANEL European 42 IG 1.000 1.000
AFD_AFR_PANEL African American 46 IG 1.000 1.000
AFD_CHN_PANEL Asian 42 IG 0.952 0.048 1.000 0.976 0.024
ss69222751 HapMap-CEU European 120 GF 1.000 0.500 0.500
HapMap-HCB Asian 90 GF 1.000 0.500 0.500
HapMap-JPT Asian 88 GF 1.000 0.500 0.500
HapMap-YRI Sub-Saharan African 118 GF 1.000 0.500 0.500
Concordant Genotype Total Sample C/C C/T
ss24191231 562 536 9
RefSNP Genotype Summary Total Individual C/C C/T
rs1803524 571 536 9
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
162 ss24191231 C/C PERLEGEN AFD_EUR_PANEL NA07019 71_IND_CHR_19
162 ss24191231 N/N CSHL-HAPMAP HapMap-CEU NA07019 CEPH1340.02 r27_ch19_CEU_illumina:human_1m_beadchip
188 ss24191231 C/C PERLEGEN AFD_EUR_PANEL NA10851 71_IND_CHR_19
188 ss24191231 N/N CSHL-HAPMAP HapMap-CEU NA10851 CEPH1344.01 r27_ch19_CEU_illumina:human_1m_beadchip
203 ss24191231 C/C PERLEGEN AFD_EUR_PANEL NA07348 71_IND_CHR_19
203 ss24191231 C/C CSHL-HAPMAP HapMap-CEU NA07348 CEPH1345.02 r27_ch19_CEU_illumina:human_1m_beadchip
215 ss24191231 C/C PERLEGEN AFD_EUR_PANEL NA10857 71_IND_CHR_19
215 ss24191231 N/N CSHL-HAPMAP HapMap-CEU NA10857 CEPH1346.01 r27_ch19_CEU_illumina:human_1m_beadchip
242 ss24191231 C/C PERLEGEN AFD_EUR_PANEL NA10854 71_IND_CHR_19
242 ss24191231 C/C CSHL-HAPMAP HapMap-CEU NA10854 CEPH1349.02 r27_ch19_CEU_illumina:human_1m_beadchip
348 ss24191231 C/C PERLEGEN AFD_EUR_PANEL NA10860 71_IND_CHR_19
348 ss24191231 N/N CSHL-HAPMAP HapMap-CEU NA10860 CEPH1362.01 r27_ch19_CEU_illumina:human_1m_beadchip
349 ss24191231 C/C PERLEGEN AFD_EUR_PANEL NA10861 71_IND_CHR_19
349 ss24191231 C/C CSHL-HAPMAP HapMap-CEU NA10861 CEPH1362.02 r27_ch19_CEU_illumina:human_1m_beadchip
399 ss24191231 C/C PERLEGEN AFD_EUR_PANEL NA10830 71_IND_CHR_19
399 ss24191231 C/C CSHL-HAPMAP HapMap-CEU NA10830 CEPH1408.01 r27_ch19_CEU_illumina:human_1m_beadchip
400 ss24191231 C/C PERLEGEN AFD_EUR_PANEL NA10831 71_IND_CHR_19
400 ss24191231 C/C CSHL-HAPMAP HapMap-CEU NA10831 CEPH1408.02 r27_ch19_CEU_illumina:human_1m_beadchip
Genotype data submitted for586 samples from571 individualsIndividual with multiple genotypes submission:15

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

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Revised: May 25, 2006 1:38 PM .