Reference SNP(refSNP) Cluster Report: rs324024

Reference SNP(refSNP) Cluster Report: rs324024

refSNP ID: rs324024
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/G
Ancestral Allele:	A
Clinical Association:	unknown

HGVS Names
NM_000796.3:c.270+294T>C
NM_033663.3:c.270+294T>C
NT_005612.15:g.20385422A>G

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss44451294 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs324024 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
ss414477	KWOK\|OVLP-000621-281207	fwd/T	A/G	caccatgtcattgagacatgtctggcacag	gaataaactctaggccatattaggaagagt	06/30/00	10/10/03	79	Genomic	99 %
ss899980	KWOK\|OVLP-000804-146198	fwd/T	A/G	caccatgtcattgagacatgtctggcacag	gaataaactctaggccatattaggaagagt	09/01/00	10/10/03	86	Genomic	99 %
ss1893414	KWOK\|OVLP-000925-329033	fwd/T	A/G	caccatgtcattgagacatgtctggcacag	gaataaactctaggccatattaggaagagt	10/06/00	10/10/03	87	Genomic	99 %
ss3743492	SC_JCM\|AC027054.3_42510	fwd/T	A/G	caccatgtcattgagacatgtctggcacag	gaataaactctaggccatattaggaagagt	09/25/01	10/10/03	100	Genomic	unknown
ss44451294	ABI\|hCV949771	fwd/T	A/G	caccatgtcattgagacatgtctggcacag	gaataaactctaggccatattaggaagagt	07/18/05	11/03/06	126	Genomic	unknown
ss76547579	AFFY\|AFFY_6_1M_SNP_A-8408731	rev/B	C/T	ggcctagagtttattc	ctgtgccagacatgtc	08/28/07	08/30/07	130	Genomic	unknown

Fasta sequence (Legend)

 TGGAAAATAT ACATTTGAGG GTTTTGTCTG TTCCTTTGGT AGCAGAGTCT ATGGAGAACT
 GGTACCCAGG AGGAAAGAGC AAAGAGGGAC TGAGCCATCG AAAGAAGTCT GATCTGTTCG
 CTGGTCATTC TTTCTATCTT CCCTTACATT CACTAATTTT TTTTTTCTAT AATTCCTTTT
 TCCTCCTGGC CTCACATCCC TCCTGCACAC CCTCACCCTC ATATACATTA AACACTGGTG
 AAGAGGTCTT CTGGACTGCT TCACCCAGCC CACCATGTCA TTGAGACATG TCTGGCACAG
 R
 GAATAAACTC TAGGCCATAT TAGGAAGAGT CCCGTCACTC AAATCCAGTC ACCTGAACAC
 TGGAGACCCA TGAACAGAAT CATTCTCAGC TCCTTGGTTC TGATGTGGAT GAGGGACAGG
 ATGGTGACTG TTTTCCAGAG CTTTAACTCT CTCATTACAG GGAGAATGAG AGCTCTCCTT
 CCTTCCTCAG TTCCTGACTG TCTGGGGAGT CTTTTGAGCC CCAAAGGCCA GAACTCAGGG
 AAGACAAGTA CTAGCACAGT CATAGAGACA ACATGCACCT GAAGTCTACT CACCTCCAGG

GeneView

GeneView via analysis of contig annotation: DRD3 dopamine receptor D3

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_005612->NM_000796

function

reference

NT_005612->NM_033663

function

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


reference	NT_005612->NM_000796->NP_000787	20385422	reverse	intron

reference	NT_005612->NM_033663->NP_387512	20385422	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs324024 maps exactly once on NCBI human chromosome 3

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
3	NW_001838881.2	6406188	111263886	minus	T	alt_assembly_8	HuRef	HuRef	view	300
3	NW_921807.1	20484064	112298394	plus	A	alt_assembly_1	Celera	Celera	view	300
3	NT_005612.15	20385422	115372966	plus	A	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
AC027054 AC023645 AC027054.3

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	HWP	A	G
ss1893414	CEPH		184	AF				1.000

ss44451294	HapMap-CEU	European	120	IG	1.000			1.000

	HapMap-HCB	Asian	90	IG	1.000			1.000

	HapMap-JPT	Asian	88	IG	1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	IG	0.917	0.083	0.752	0.958	0.042

	AoD_Caucasian		92	AF				0.990	0.010

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.024+/-0.106	270	210	0	0

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 .