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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs12574058          
refSNP ID: rs12574058
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
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_002576.3:c.1551+1673C>T
NT_033927.7:g.7264851G>A
Links

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 ss19902811 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12574058 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
ss19902811CSHL-HAPMAP|CSHL-HuFF-200402.chr11.NT_033927.6_7241131fwd/TA/Gataaaaaatgctcatcatcactggccatcaggaaatgcaaatcaaaaccacaatgagata02/21/0403/04/04120Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12574058|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=120
 ggtgctggga aaactggcta gccatatgta gaaagctgaa actggatccc ttccttacac
 cttatacaaa aattaattca agatggatta gagacttaaa tgttagacct aaaatgataa
 aaaccctaga agaaaaccta ggcaatacca ttcaggacat aggcatgggc aaggacttca
 tgtctaaaac accaaaagca atggcaacaa aagccaaaat tgacaaatgg gatctaatta
 aactaaagag cttctgcaca gcaaaagaaa ccaccatcag agtgaacagg caacctacag
 gatgggagaa aatttttgca acctactcat ctgacaaagg gctaatatcc agaatctaca
 acgaactcaa acaaatttac aagaaaaaaa caaacaaccc catcaaaaag tgggcgaagg
 atatgaacag acacttctca aaagaagaca tttacatagc caaaaaacac ataaaaaatg
 ctcatcatca ctggccatca
 R
 ggaaatgcaa atcaaaacca caatgagata ccatctcaca ccagttagaa tggcgatcat
 taaaaagtca ggaaacaaca cgtgctggag aggatgtgga gaaatacgaa cacttttaca
 ctgttggtgg gagtgtaaac tagttcaacc attgtggaag tcagtgtggc aattcctcag
 ggatctagaa ctagaaatac catttgaccc agccatccca ttactgggta tatacccaaa
 ggattataaa tcatgctgct gtaaagacac atgcacacgt atgtttatag tggcactatt
 cacaacagca aagacttgga accaacctaa atgtccaaca acgatagact ggattaagaa
 aatgtggcac atatacacca tggaatacta tgcagccata aaaaatgatg agttcatgtc
 ctttgtaggg acatggatga aactggaaac catcattctc agcaaactat tgcaaggaca
 aaaaaccaaa cactgcatgt

  GeneView back to top
GeneView via analysis of contig annotation: PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label		Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_033927->NM_002576
function
HuRefNW_001838028->NM_002576
function
CeleraNW_925106->NM_002576
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_033927->NM_002576->NP_0025677264851reverseintron
HuRefNW_001838028->NM_002576->NP_00256710635541forwardintron
CeleraNW_925106->NM_002576->NP_00256722697818reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs12574058 maps exactly once on NCBI human chromosome 11
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
11NW_001838028.21063554173340096minusCalt_assembly_8HuRefHuRefview500
11NW_925106.12269781874349742plusGalt_assembly_1CeleraCeleraview500
11NT_033927.7726485176719750plusGref_assemblyreferencereferenceview500
5NT_113802.153049670681951minusCalt_assembly_5c5_H2c5_H2view500
5NT_113802.156594470717399minusCalt_assembly_5c5_H2c5_H2view500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_033927
dbSNP Blast Analysis
GenBank HTGS Finished:
AP000486.6

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .