Reference SNP(refSNP) Cluster Report: rs11575446

Reference SNP(refSNP) Cluster Report: rs11575446

refSNP ID: rs11575446
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:	G
Clinical Association:	unknown

HGVS Names
NM_000790.3:c.945-1043G>A
NM_001082971.1:c.945-1043G>A
NT_033968.5:g.137973C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss16361443 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11575446 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
ss16361443	EGP_SNPS\|DDC-081898		fwd/T	A/G	caaaggccagcccagtgagagtttgggtcc	agttctgcagaatgactaccagtgtgagtg	02/09/04	04/07/04	120	Genomic			unknown

Fasta sequence (Legend)

 TCCTTGGTAA GCCACATCTC AGCATCCTAT TTTGTGCTCA CTGGGTTCTG TCTTTCAGGG
 ACTCTCACGT TTTATTTGTT TTCAAGCCTA AGCTACTGTC AGATTAACAT TTCTTCTCTA
 GTTTGCCCTT AGGATACTTT ATTTGCTACA AAATTGCTTT GTGATGGTGT CACCACACTG
 CCAATGAAGC AGAGCAATGG CAATTACCAT AAAGCACAGG CCCTTCAAAG GCCAGCCCAG
 TGAGAGTTTG GGTCC
 R
 AGTTCTGCAG AATGACTACC AGTGTGAGTG CTCTGTGTGC AGACAGGTGA AAGAGGACCC
 CTGTCTGCAG CCCAGGGCAT CCTGGCCTTC TCACTCATTA GCCCTTGGGA TTTTCACCCC
 ACACACACTT ACTGATGCCA GCAGGGCCAG TCACTGTGCT GTCCCTGGAA AGAGAGAGAG
 GAGCAAATGC TAACCTCTGT GGTTTTCCCT CTTGACACCA ATTCTCCAAC TCTGCAGACA
 CCAGCTGGGT GTCCT

GeneView

GeneView via analysis of contig annotation: DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)

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_033968->NM_000790

function

reference

NT_033968->NM_001082971

function

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


reference	NT_033968->NM_000790->NP_000781	137973	reverse	intron

reference	NT_033968->NM_001082971->NP_001076440	137973	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs11575446 maps exactly once on NCBI human chromosome 7

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
7	NW_001839007.1	144745	50398563	minus	C	alt_assembly_8	HuRef	HuRef	view	255
7	NT_033968.5	137973	50516098	minus	C	ref_assembly	reference	reference	view	255
7	NT_079592.2	50504667	50554667	minus	C	alt_assembly_2	CRA_TCAGchr7v2	CRA_TCAGchr7v2	view	255
7	NW_923273.1	6438168	50613518	minus	C	alt_assembly_1	Celera	Celera	view	255

NCBI Resource Links

Submitter-Referenced
GenBank
AY526322

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss16361443	PDR90	Global	178	IG	0.022	0.978	1.000	0.011	0.989

	HapMap-CEU	European	116	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	110	IG		1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.007+/-0.058	360	300	0	0

Validation Summary:

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

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Revised: May 25, 2006 1:38 PM .