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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2233391          
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.502A>C
NP_005374.1:p.Asn168His
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 ss44184714 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2233391 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
ss3180814GENAISSANCE|GEN2497fwd/TA/Cgcagtgggcccggggcattgtttgcagcttacgacagggcccggagcctggtggtgcccg07/19/0110/10/0398Genomicunknown
ss21725896SSAHASNP|WGSA-200403-chr2.chr2.NT_005403.14_84108538fwd/TA/Cgcagtgggcccggggcattgtttgcagcttacgacagggcccggagcctggtggtgcccg03/20/0403/20/04121Genomicunknown
ss44184714ABI|hCV42328byFreqfwd/TA/Cgcagtgggcccggggcattgtttgcagcttacgacagggcccggagcctggtggtgcccg07/18/0511/03/06126Genomicunknown
ss74879682ILLUMINA|ILMN_Human_1M_rs2233391fwd/TA/Cgcagtgggcccggggcattgtttgcagcttacgacagggcccggagcctggtggtgcccg08/28/0708/29/07129Genomicunknown
ss82355418HGSV|Cor19240_SNV_20070510.chr2_233724631fwd/TA/Cgcagtgggcccggggcattgtttgcagcttacgacagggcccggagcctggtggtgcccg11/30/0712/02/07130Genomicunknown
ss86271092CORNELL|hCV42328fwd/TA/Cgcagtgggcccggggcattgtttgcagcttacgacagggcccggagcctggtggtgcccg01/21/0801/21/08129Genomicunknown
ss91588571BCMHGSC_JDW|JWB-1399895fwd/TA/Cgcagtgggcccggggcattgtttgcagcttacgacagggcccggagcctggtggtgcccg02/26/0803/02/08129Genomicunknown
ss97131568HUMANGENOME_JCVI|1103658395733fwd/TA/Cgcagtgggcccggggcattgtttgcagcttacgacagggcccggagcctggtggtgcccg03/28/0803/28/08130Genomicunknown
ss1109569381000GENOMES|CEU.trio.12.15.2008_607156_chr2_233607370fwd/TA/Cgcagtgggcccggggcattgtttgcagcttacgacagggcccggagcctggtggtgcccg12/15/0812/17/08130Genomicunknown
ss1118180571000GENOMES|NA19240_2008_12_16_542985_chr2_233607370fwd/TA/Cgcagtgggcccggggcattgtttgcagcttacgacagggcccggagcctggtggtgcccg12/16/0812/17/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2233391|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 TGGCAAGCTC AGGAGGTGGT GGCCCAGGCC CGGCTGGATG GCCACCGGTC CATGAACCCA
 TGCCCCTTGT ATGACGCGCA GACGGGGACC CTCTTCCTCT TCTTCATTGC CATCCCTGGG
 CAAGTCACGG AGCAACAGCA GCTGCAGACC AGGGCCAATG TGACGCGGCT GTGCCAAGTC
 ACCAGCACTG ACCACGGGAG GACCTGGAGC TCCCCCAGAG ACCTCACTGA TGCGGCCATC
 GGCCCAGCCT ACCGGGAGTG GTCCACCTTT GCAGTGGGCC CGGGGCATTG TTTGCAGCTT
 M
 ACGACAGGGC CCGGAGCCTG GTGGTGCCCG CCTACGCCTA CCGGAAACTT CACCCCATCC
 AAAGGCCGAT CCCCTCTGCC TTCTGCTTCC TCAGCCATGA CCATGGGCGC ACGTGGGCGC
 GAGGGCACTT TGTGGCCCAG GACACCCTGG AGTGCCAGGT GGCCGAAGTC GAGACTGGGG
 AGCAGAGGGT GGTGACCCTC AACGCGAGAA GCCACCTCCG AGCCAGGGTC CAGGCCCAGA
 GCACCAATGA CGGGCTTGAT TTCCAGGAGT CTCAGCTGGT GAAGAAGCTG GTGGAGCCGC

  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 ABBA01001998
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
ss44184714 HapMap-CEU European 114 IG 0.193 0.614 0.193 0.100 0.500 0.500
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 90 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 0.267 0.733 0.251 0.133 0.867
AoD_African_American 90 AF 0.180 0.820
AoD_Caucasian 92 AF 0.590 0.410
AoD_Chinese 90 AF 0.040 0.960

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.290+/-0.247 1208 1002 0 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 .