Reference SNP(refSNP) Cluster Report: rs41297704

Reference SNP(refSNP) Cluster Report: rs41297704

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	127/130
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/G
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_002155.3:c.510C>G
NP_002146.2:p.Asn170Lys
NR_024151.1:c.742G>C
NT_004487.18:g.11985313C>G
XR_038244.1:c.684G>C

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss52975231 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs41297704 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
ss52975231	EGP_SNPS\|HSPA6-002858		fwd/	C/G	caaggacgcgggggccatcgcggggctcaa	gtgttgcggatcatcaatgagcccacggca	06/08/06	12/16/06	127	Genomic			unknown
ss83700430	HGSV\|Cor19240_SNV_20070510.chr1_158308013		fwd/	C/G	caaggacgcgggggccatcgcggggctcaa	gtgttgcggatcatcaatgagcccacggca	11/30/07	12/05/07	130	Genomic			unknown

Fasta sequence (Legend)

 GCAGTCGGAC ATGAAGCACT GGCCCTTCCG GGTGGTGAGC GAGGGCGGCA AGCCCAAGGT
 GCGCGTATGC TACCGCGGGG AGGACAAGAC GTTCTACCCC GAGGAGATCT CGTCCATGGT
 GCTGAGCAAG ATGAAGGAGA CGGCCGAGGC GTACCTGGGC CAGCCCGTGA AGCACGCAGT
 GATCACCGTG CCCGCCTATT TCAATGACTC GCAGCGCCAG GCCACCAAGG ACGCGGGGGC
 CATCGCGGGG CTCAA
 S
 GTGTTGCGGA TCATCAATGA GCCCACGGCA GCTGCCATCG CCTATGGGCT GGACCGGCGG
 GGCGCGGGAG AGCGCAACGT GCTCATTTTT GACCTGGGTG GGGGCACCTT CGATGTGTCG
 GTTCTCTCCA TTGACGCTGG TGTCTTTGAG GTGAAAGCCA CTGCTGGAGA TACCCACCTG
 GGAGGAGAGG ACTTCGACAA CCGGCTCGTG AACCACTTCA TGGAAGAATT CCGGCGGAAG
 CATGGGAAGG ACCTG

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
DQ521571

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/G	HWP	C	G
ss52975231	EGP_YORUB-PANEL	Sub-Saharan African	24	IG	0.667	0.333	0.527	0.833	0.167

	EGP_HISP-PANEL	Hispanic	44	IG	0.545	0.455	0.200	0.773	0.227

	EGP_CEPH-PANEL	European	44	IG	0.818	0.182	0.655	0.909	0.091

	EGP_AD-PANEL	African American	30	IG	1.000			1.000

	EGP_ASIAN-PANEL	Asian	48	IG	0.875	0.125	0.752	0.938	0.062

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.197+/-0.244	95	95	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 .