Reference SNP(refSNP) Cluster Report: rs2975293

Reference SNP(refSNP) Cluster Report: rs2975293

refSNP ID: rs2975293
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	101/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/G
Ancestral Allele:	G
Clinical Association:	unknown

HGVS Names
NM_001044.3:c.928-1336G>A
NT_006576.15:g.1407652C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss4189132 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2975293 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	Validation Status	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Freq Warning	Ancestral Allele	Success Rate
ss4189132	SC_JCM\|AF119117.1_35197		fwd/T	A/G	acgtccagagttgtgggtgccatccaccga	ttgggcaggcacagcaccagtgtctaagct	10/15/01	10/25/06	101	Genomic			unknown

Fasta sequence (Legend)

 CTCCAAGGGG GGGTTGGCTG CTCCTTCTCC CCCATCCAAG GCCCAGGGAA GGGCAAGGTG
 GGCATCTGAG TCACTGAATG GTCTCCGCAG TGCCCTCACC TTAGCAGGTT GTGGCTGACT
 TTTTAAAATA CCACAATGGT CCAATCGTGG ACCCACCCAC CTTTCCTTTC ACGTCCAGAG
 TTGTGGGTGC CATCCACCGA
 R
 TTGGGCAGGC ACAGCACCAG TGTCTAAGCT GCAGGTGGGC TCCTGGCCAT GCCCAGGTGC
 CACTGTGCAC CTGTACTGCT CATGTTTTGG GAAGGATACA AAGCAGGCAT TGGTGGTGTG
 CGTCCAATCA GGACACCATC ATCATGTAGC ATGTGGATGG GTCCATGCCT TTCTGAGGGT
 TATCAGGGTG CTGCCATCAT

GeneView

GeneView via analysis of contig annotation: SLC6A3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3

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_006576->NM_001044

function

HuRef

NW_001838923->NM_001044

function

Celera

NW_922518->NM_001044

function

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


reference	NT_006576->NM_001044->NP_001035	1407652	reverse	intron

HuRef	NW_001838923->NM_001044->NP_001035	724149	forward	intron

Celera	NW_922518->NM_001044->NP_001035	558106	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs2975293 maps exactly once on NCBI human chromosome 5

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
5	NW_001838923.2	724149	1398822	plus	G	alt_assembly_8	HuRef	HuRef	view	200
5	NW_922518.1	558106	1455674	minus	C	alt_assembly_1	Celera	Celera	view	200
5	NT_006576.15	1407652	1470652	minus	C	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
AF119117 AC022130 AC026748 AC091933

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC026748.7 NC_000005.8	AC009170.6 AC022130.4 AC091933.2

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss4189132	HapMap-CEU	European	120	IG		1.000			1.000

	HapMap-HCB	Asian	90	IG		1.000			1.000

	HapMap-JPT	Asian	90	IG		1.000			1.000

	HapMap-YRI	Sub-Saharan African	118	IG	0.153	0.847	0.527	0.076	0.924

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.042+/-0.139	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 .