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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2233384          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:98/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_005383.1:c.33C>A
NP_005374.1:p.Ser11Arg
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 ss118121204 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2233384 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
ss3180807GENAISSANCE|GEN2490fwd/TA/Cggcgtcccttcctgtcctgcagaaggagaggtgttccagtcgggagcccatgcctacaga07/19/0110/10/0398Genomicunknown
ss3225062YUSUKE|IMS-JST035146fwd/TA/Cggcgtcccttcctgtcctgcagaaggagaggtgttccagtcgggagcccatgcctacaga09/05/0110/10/03100Genomicunknown
ss9987075BCM_SSAHASNP|chr2.NT_005403.13_84056747byFreqfwd/TA/Cggcgtcccttcctgtcctgcagaaggagaggtgttccagtcgggagcccatgcctacaga06/27/0310/25/06116Genomicunknown
ss11506492WI_SSAHASNP|chr2.NT_005403.13_84056747fwd/TA/Cggcgtcccttcctgtcctgcagaaggagaggtgttccagtcgggagcccatgcctacaga07/03/0310/10/03116Genomicunknown
ss23871576PERLEGEN|afd4480040byFreqfwd/TA/Cggcgtcccttcctgtcctgcagaaggagaggtgttccagtcgggagcccatgcctacaga08/10/0409/13/04123Genomicunknown
ss65731008ILLUMINA|Human1-rs2233384fwd/TA/Cggcgtcccttcctgtcctgcagaaggagaggtgttccagtcgggagcccatgcctacaga10/10/0610/10/06127Genomicunknown
ss68846439PERLEGEN|PGP04480040byFreqfwd/TA/Cggcgtcccttcctgtcctgcagaaggagaggtgttccagtcgggagcccatgcctacaga01/30/0708/14/07127Genomicunknown
ss74806532AFFY|SNP_M-176476fwd/TA/Cggcgtcccttcctgtcctgcagaaggagaggtgttccagtcgggagcccatgcctacaga08/09/0708/09/07128Genomicunknown
ss74904863ILLUMINA|ILMN_Human_1M_rs2233384fwd/TA/Cggcgtcccttcctgtcctgcagaaggagaggtgttccagtcgggagcccatgcctacaga08/28/0708/29/07129Genomicunknown
ss76790412AFFY|AFFY_6_1M_SNP_A-8651828rev/BG/Tctcccgactggaacacctctccttctgcagga08/28/0708/30/07129Genomicunknown
ss104866878KRIBB_YJKIM|KHS1259196fwd/TA/Cggcgtcccttcctgtcctgcagaaggagaggtgttccagtcgggagcccatgcctacaga07/10/0807/10/08130Genomicunknown
ss118121204ILLUMINA-UK|NA18507_000284245_NCBI36.1_chr2_233605658fwd/TA/Cggcgtcccttcctgtcctgcagaaggagaggtgttccagtcgggagcccatgcctacaga01/19/0901/20/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2233384|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 CCCTCCCGAT ATCCACCGAG GCAAAGGCAG AATTAAGAAG CAGGGTCTTG AGATGTAGGA
 AAGGAGAATG AACCCCACGC GGGAAGAGGA CAGGCCGCCC TGACTTTGGT CCACTCAGCC
 AGGGGGTGAG CACCACCTGT CTTGGTGAAT GACTCTGAGC CCATCTCAGG TGTGGCTGCA
 GGTGACACAT CTTCTCTTCC TGTCCACCCC CCAGCCCCAT GGCGTCCCTT CCTGTCCTGC
 AGAAGGAGAG
 M
 GTGTTCCAGT CGGGAGCCCA TGCCTACAGA ATCCCTGCCC TGCTCTACCT GCCTGGGCAG
 CAGTCCCTGC TGGCCTTCGC GGAACAGCGG GCAAGCAAGA AGGATGAGCA CGCAGAGCTG
 ATTGTCCTGC GCAGAGGAGA CTACGACGCA CCCACCCACC AGGTTCAGGT GAGGCAGGAG
 GTGTCTGCAC TGGCTCCCCA GGGCTCTGCC ACACCCTTTG CTGCTGTGAT CAGGGGCCAG
 TCCTGGATCT

  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
Y16535.1
dbSNP Blast Analysis
UniGene Cluster ID
532681

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/C
 C/C
 HWP A
 C
ss23871576 AFD_EUR_PANEL European 48 IG 1.000 1.000
AFD_AFR_PANEL African American 46 IG 0.043 0.957 1.000 0.022 0.978
AFD_CHN_PANEL Asian 48 IG 0.167 0.833 0.752 0.083 0.917
ss68846439 HapMap-CEU European 120 GF 0.133 0.867 0.067 0.933
HapMap-HCB Asian 90 GF 0.356 0.644 0.178 0.822
HapMap-JPT Asian 90 GF 0.356 0.644 0.178 0.822
HapMap-YRI Sub-Saharan African 120 GF 0.267 0.733 0.133 0.867
ss9987075 HapMap-CEU European 120 IG 1.000 1.000
HapMap-HCB Asian 90 IG 0.022 0.311 0.667 0.752 0.178 0.822
HapMap-JPT Asian 88 IG 0.091 0.364 0.545 0.371 0.273 0.727
HapMap-YRI Sub-Saharan African 120 IG 0.033 0.500 0.467 0.752 0.283 0.717
Concordant Genotype Total Sample A/A A/C C/C
ss118121204 1067 5 115 840
ss23871576 70 5 65
RefSNP Genotype Summary Total Individual A/A A/C C/C
rs2233384 1175 5 120 897
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
185 ss118121204 C/C CSHL-HAPMAP HapMap-CEU NA07055 CEPH1341.12 r27_ch2_CEU_bcm:genotype_0002
213 ss118121204 C/C CSHL-HAPMAP HapMap-CEU NA07357 CEPH1345.12 r27_ch2_CEU_bcm:genotype_0002
225 ss118121204 C/C CSHL-HAPMAP HapMap-CEU NA12043 CEPH1346.11 r27_ch2_CEU_bcm:genotype_0002
226 ss118121204 C/C CSHL-HAPMAP HapMap-CEU NA12044 CEPH1346.12 r27_ch2_CEU_bcm:genotype_0002
239 ss118121204 C/C CSHL-HAPMAP HapMap-CEU NA11882 CEPH1347.15 r27_ch2_CEU_bcm:genotype_0002
253 ss118121204 C/C CSHL-HAPMAP HapMap-CEU NA11840 CEPH1349.14 r27_ch2_CEU_bcm:genotype_0002
344 ss118121204 C/C CSHL-HAPMAP HapMap-CEU NA12716 CEPH1358.11 r27_ch2_CEU_bcm:genotype_0002
349 ss23871576 C/C PERLEGEN AFD_EUR_PANEL NA10861 71_IND_CHR_2
349 ss118121204 C/C CSHL-HAPMAP HapMap-CEU NA10861 CEPH1362.02 r27_ch2_CEU_bcm:genotype_0002
548 ss118121204 C/C CSHL-HAPMAP HapMap-CEU NA12763 CEPH1447.12 r27_ch2_CEU_bcm:genotype_0002
5135 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA19128 YOR077.03 r27_ch2_YRI_illumina:human_1m_beadchip
5136 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA19132 YOR101.01 r27_ch2_YRI_illumina:human_1m_beadchip
5137 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA19131 YOR101.02 r27_ch2_YRI_illumina:human_1m_beadchip
5139 ss118121204 N/N CSHL-HAPMAP HapMap-YRI NA19100 YOR105.01 r27_ch2_YRI_illumina:human_1m_beadchip
5140 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA19099 YOR105.02 r27_ch2_YRI_illumina:human_1m_beadchip
5149 ss118121204 C/C CSHL-HAPMAP HapMap-HCB NA18524 CH18524 r27_ch2_CHB_illumina:human_1m_beadchip
5156 ss118121204 C/C CSHL-HAPMAP HapMap-HCB NA18603 CH18603 r27_ch2_CHB_illumina:human_1m_beadchip
5161 ss118121204 C/C CSHL-HAPMAP HapMap-HCB NA18572 CH18572 r27_ch2_CHB_illumina:human_1m_beadchip
5164 ss118121204 C/C CSHL-HAPMAP HapMap-HCB NA18550 CH18550 r27_ch2_CHB_illumina:human_1m_beadchip
5169 ss118121204 C/C CSHL-HAPMAP HapMap-HCB NA18564 CH18564 r27_ch2_CHB_illumina:human_1m_beadchip
5173 ss118121204 C/C CSHL-HAPMAP HapMap-HCB NA18612 CH18612 r27_ch2_CHB_illumina:human_1m_beadchip
5175 ss118121204 C/C CSHL-HAPMAP HapMap-HCB NA18620 CH18620 r27_ch2_CHB_illumina:human_1m_beadchip
5179 ss118121204 C/C CSHL-HAPMAP HapMap-HCB NA18573 CH18573 r27_ch2_CHB_illumina:human_1m_beadchip
5187 ss118121204 C/C CSHL-HAPMAP HapMap-HCB NA18633 CH18633 r27_ch2_CHB_illumina:human_1m_beadchip
5188 ss118121204 C/C CSHL-HAPMAP HapMap-HCB NA18635 CH18635 r27_ch2_CHB_illumina:human_1m_beadchip
5189 ss118121204 C/C CSHL-HAPMAP HapMap-HCB NA18592 CH18592 r27_ch2_CHB_illumina:human_1m_beadchip
5193 ss118121204 C/C CSHL-HAPMAP HapMap-JPT NA18942 JA18942 r27_ch2_JPT_illumina:human_1m_beadchip
5196 ss118121204 C/C CSHL-HAPMAP HapMap-JPT NA18943 JA18943 r27_ch2_JPT_illumina:human_1m_beadchip
5199 ss118121204 C/C CSHL-HAPMAP HapMap-JPT NA18945 JA18945 r27_ch2_JPT_illumina:human_1m_beadchip
5200 ss118121204 C/C CSHL-HAPMAP HapMap-JPT NA18949 JA18949 r27_ch2_JPT_illumina:human_1m_beadchip
5209 ss118121204 A/C CSHL-HAPMAP HapMap-JPT NA18960 JA18960 r27_ch2_JPT_illumina:human_1m_beadchip
5212 ss118121204 C/C CSHL-HAPMAP HapMap-JPT NA18965 JA18965 r27_ch2_JPT_illumina:human_1m_beadchip
5213 ss118121204 C/C CSHL-HAPMAP HapMap-JPT NA18973 JA18973 r27_ch2_JPT_illumina:human_1m_beadchip
5222 ss118121204 C/C CSHL-HAPMAP HapMap-JPT NA18981 JA18981 r27_ch2_JPT_illumina:human_1m_beadchip
5233 ss118121204 A/C CSHL-HAPMAP HapMap-JPT NA19005 JA19005 r27_ch2_JPT_illumina:human_1m_beadchip
5235 ss118121204 C/C CSHL-HAPMAP HapMap-JPT NA19007 JA19007 r27_ch2_JPT_illumina:human_1m_beadchip
5236 ss118121204 N/N CSHL-HAPMAP HapMap-JPT NA19003 JA19003 r27_ch2_JPT_illumina:human_1m_beadchip
5237 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA18501 YOR004.03 r27_ch2_YRI_illumina:human_1m_beadchip
5241 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA18506 YOR009.01 r27_ch2_YRI_illumina:human_1m_beadchip
5244 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA18860 YOR012.01 r27_ch2_YRI_illumina:human_1m_beadchip
5249 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA18516 YOR013.03 r27_ch2_YRI_illumina:human_1m_beadchip
5252 ss118121204 N/N CSHL-HAPMAP HapMap-YRI NA18522 YOR016.03 r27_ch2_YRI_illumina:human_1m_beadchip
5256 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA18854 YOR018.01 r27_ch2_YRI_illumina:human_1m_beadchip
5257 ss118121204 N/N CSHL-HAPMAP HapMap-YRI NA18852 YOR018.02 r27_ch2_YRI_illumina:human_1m_beadchip
5259 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA18857 YOR023.01 r27_ch2_YRI_illumina:human_1m_beadchip
5263 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA18861 YOR024.02 r27_ch2_YRI_illumina:human_1m_beadchip
5265 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA18914 YOR028.01 r27_ch2_YRI_illumina:human_1m_beadchip
5267 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA18913 YOR028.03 r27_ch2_YRI_illumina:human_1m_beadchip
5274 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA19139 YOR043.01 r27_ch2_YRI_illumina:human_1m_beadchip
5276 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA19138 YOR043.03 r27_ch2_YRI_illumina:human_1m_beadchip
5286 ss118121204 A/C CSHL-HAPMAP HapMap-YRI NA19211 YOR050.01 r27_ch2_YRI_illumina:human_1m_beadchip
5289 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA19208 YOR051.01 r27_ch2_YRI_illumina:human_1m_beadchip
5294 ss118121204 C/C CSHL-HAPMAP HapMap-YRI NA19160 YOR056.03 r27_ch2_YRI_illumina:human_1m_beadchip
Genotype data submitted for1190 samples from1175 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
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP, NCBI
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .