Reference SNP(refSNP) Cluster Report: rs35470366

Reference SNP(refSNP) Cluster Report: rs35470366

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	126/130
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_000056.2:c.122C>T
NM_000056.3:c.122C>T
NM_183050.1:c.122C>T
NM_183050.2:c.122C>T
NP_000047.1:p.Thr41Ile
NP_898871.1:p.Thr41Ile
NT_007299.12:g.18636703C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48416095 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs35470366 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
ss48416095	APPLERA_GI\|hCV25998558		fwd/T	A/G	acctgccgcctctgggccgcatcctcgaca	tcgcggcggggtgcaaaaagccccgcgcca	09/28/05	11/03/06	126	Genomic			unknown
ss68981784	PERLEGEN\|PGP17790971		rev/B	C/T	tggcgcggggctttttgcaccccgccgcga	tgtcgaggatgcggcccagaggcggcaggt	01/30/07	03/31/08	127	Genomic			unknown

Fasta sequence (Legend)

 AAAGTTGCGG GGGAGGGGGG ACTGCGTCTC GAGGGCTGAA CAGTCACAAA AATAGAGCAA
 GAAGTGAACC ACAGTTAGAC CCTGAGGCAA GGAGGTTCCA GAGAGTCAGG AAGTTAATAA
 GCTGGGATGC AAGGATTGCA GCCTGCCGGC CCCTGCCCCT CGCGGGCGCC TGCGAGCCTG
 GGAGTCCGGG CTGCAGCGGG ACCGAGTGGG CAGTCCCAGG GCTCACCGTA CTCCCGGGGC
 TCCGGATCTG GCTGGAAAGT AAAATGAGCC ACCTGCCGCC TCTGGGCCGC ATCCTCGACA
 R
 TCGCGGCGGG GTGCAAAAAG CCCCGCGCCA GCCCCGCGCC AGGAAGCCGA CGCCAGTGCC
 CCTCAGCCCC TGCCGCCCTG AGCCTGAGTA GCCAGCCGGC AGCCGCCGCT ACAACCGCCA
 TCCCCGCTCA CCACCGGGAT TCTCAGGCTA TGCAGCCGCA CGCCGCCTGC GGGGAGGGCG
 GAGCACCCGA GGAGGCTTCC ACATTGGTCG GGCCAGAGGG GCGGTCCCAT GAAACAGACC
 AATCGGAACT GGAAATTTAG GGGCGGGGAA GGCGACGTGA CGAGCTGGTC GGCTTCTGCT

GeneView

GeneView via analysis of contig annotation:

View more variation on this gene (click to hide).

Assembly	SNP to Chr	Chr	Chr position	Contig	Contig position	Allele

Function	mRNA				Protein
Function	mRNA to Chr	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function	Chr	mRNA				Protein
Function	Chr	SNP to mRNA	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A

Integrated Maps:

Genome Build	Chr	Chr Pos	Contig	Contig Pos	SNP to Chr	Contig allele	Group term	Group label	Contig label	Neighbor SNP	Map Method

doesn't map to any assembly.

NCBI Resource Links

Resource

Submitter-Referenced
GenBank
NC_000006.9

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss48416095	AGI_ASP population	multiple	70	IG	0.029	0.029	0.943	0.001	0.043	0.957

ss68981784	HapMap-CEU	European	120	GF		1.000			0.500	0.500

	HapMap-HCB	Asian	90	GF		1.000			0.500	0.500

	HapMap-JPT	Asian	88	GF		1.000			0.500	0.500

	HapMap-YRI	Sub-Saharan African	120	GF		1.000			0.500	0.500

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.491+/-0.065	38	38	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

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .