Reference SNP(refSNP) Cluster Report: rs184331

Reference SNP(refSNP) Cluster Report: rs184331

refSNP ID: rs184331
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	79/129
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_000952.3:c.-39+12626C>A
NT_004610.18:g.11314819G>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss43843500 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs184331 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Success Rate
ss244441	KWOK\|OVLP-000621-247591	fwd/T	A/C	atatttatggcctctctaccccacccccag	tgaaggctgtgcctgggccagctgcccagc	06/30/00	10/10/03	79	Genomic	91 %
ss618828	SC_JCM\|AC027421.3_54846	fwd/T	A/C	atatttatggcctctctaccccacccccag	tgaaggctgtgcctgggccagctgcccagc	07/12/00	10/10/03	80	Genomic	unknown
ss2071172	KWOK\|OVLP-000925-534045	fwd/T	A/C	atatttatggcctctctaccccacccccag	tgaaggctgtgcctgggccagctgcccagc	10/07/00	10/10/03	87	Genomic	91 %
ss2071179	KWOK\|OVLP-000925-543724	rev/B	G/T	gctgggcagctggcccaggcacagccttca	ctgggggtggggtagagaggccataaatat	10/07/00	10/10/03	87	Genomic	91 %
ss2071182	KWOK\|OVLP-000925-547155	fwd/T	A/C	atatttatggcctctctaccccacccccag	tgaaggctgtgcctgggccagctgcccagc	10/07/00	10/10/03	87	Genomic	91 %
ss43843500	ABI\|hCV927756	rev/B	G/T	gctgggcagctggcccaggcacagccttca	ctgggggtggggtagagaggccataaatat	07/18/05	07/18/05	126	Genomic	unknown

Fasta sequence (Legend)

 TTGACCTCAA CTGGCCCCAC AAATGTTAAG AGCTAGCAGG ACTGGTGAAC CCAACTTCCC
 AACCCACAAT CTGGCCTGGG AAATCAACCA GCACATACCT CCTTCTGTCC ATCTCCCGAT
 GGTCCCTCCT CTCTGGCTGT CCAGCTATGG ATGAGAACCC CTTCTCCAGG TTCCCTAGGG
 ACTGGGAATG TTTCCAGCAG GGATGAGGGC CGAATGCTGC ACAGGGAAAA GGGTACCAGA
 TCCAGACAGC AGAATTCTTC TGTCTCATGA ATATTTATGG CCTCTCTACC CCACCCCCAG
 M
 TGAAGGCTGT GCCTGGGCCA GCTGCCCAGC CTCGATCCAT CAGGGAACTG TGCCCATGTG
 TTAAACTGAG TGGTCTGAGC CTCTTCTTTT CTTTCCAAAT GTTCATCCTC TTCCTGAGCT
 GTTGAAAGCT TTGTTGCCAT TAGCTGGAGG CTCTATCTGG AGCTGGCAGG AAAGCCAGTG
 TGTAGGTCAA AGCCCCTAGG TCAATGTTGG CCCACAGTCC CCTCCCCTGG CTCCAAGCAG
 CTGGGCCAGT GGGGAGAGGG AGGCTTGGTC ATTTGTGGCT CAGGTCCTGT TCCAGCCACT

GeneView

GeneView via analysis of contig annotation: PTAFR platelet-activating factor receptor

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

Group
Label

Contig->mRNA

Gene Model (contig mRNA transcript) Color Legend

reference

NT_004610->NM_000952

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	Function


reference	NT_004610->NM_000952->NP_000943	11314819	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs184331 maps exactly once on NCBI human chromosome 1

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
1	NW_001838576.1	2392467	26747645	minus	G	alt_assembly_8	HuRef	HuRef	view	300
1	NW_921351.1	2746979	26886121	minus	G	alt_assembly_1	Celera	Celera	view	300
1	NT_004610.18	11314819	28363064	minus	G	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
AC027421.3 AC025860 AC027421.3 AL137792 AL137792.8 AL353354.13

dbSNP Blast Analysis
GenBank HTGS Finished:
AL137792.11

Population Diversity

There is no frequency data.

Validation Summary:

Validation status	Marker displays Mendelian segregation	PCR results confirmed in multiple reactions	Homozygotes detected in individual genotype data
	UNKNOWN	UNKNOWN	UNKNOWN

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Revised: May 25, 2006 1:38 PM .