Reference SNP(refSNP) Cluster Report: rs70

Reference SNP(refSNP) Cluster Report: rs70

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	36/130
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_015204.1:c.1453+22381G>A
NT_007819.16:g.11096664C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss3128794 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs70 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
ss69	KWOK\|700089	fwd/T	A/G	tatgatacttaaaatactatttaaattcac	aaagaataacgataggaaaataacaagatt	11/24/98	10/10/03	36	Genomic	unknown
ss3128794	TSC-CSHL\|TSC1240680	fwd/T	A/G	tatgatacttaaaatactatttaaattcac	aaagaataacgataggaaaataacaagatt	06/08/01	04/07/04	96	Genomic	unknown
ss11857760	WI_SSAHASNP\|chr7.NT_007819.13_10903379	rev/B	C/T	aatcttgttattttcctatcgttattcttt	gtgaatttaaatagtattttaagtatcata	07/04/03	10/10/03	116	Genomic	unknown
ss14583224	WUGSC_SSAHASNP\|chr7.NT_007819.14_10903379	rev/B	C/T	aatcttgttattttcctatcgttattcttt	gtgaatttaaatagtattttaagtatcata	11/05/03	11/22/03	120	Genomic	unknown
ss19728302	CSHL-HAPMAP\|CSHL-HuDD-200402.chr7.NT_007819.14_10903379	rev/B	C/T	aatcttgttattttcctatcgttattcttt	gtgaatttaaatagtattttaagtatcata	02/20/04	03/04/04	120	Genomic	unknown
ss22604685	SSAHASNP\|WGSA-200403-chr7.chr7.NT_007819.14_10903379	rev/B	C/T	aatcttgttattttcctatcgttattcttt	gtgaatttaaatagtattttaagtatcata	03/21/04	03/21/04	121	Genomic	unknown
ss22911781	SSAHASNP\|AACC-200403.chr7.NT_007819.14_10903379	rev/B	C/T	aatcttgttattttcctatcgttattcttt	gtgaatttaaatagtattttaagtatcata	03/22/04	03/22/04	121	Genomic	unknown
ss78749484	HGSV\|Cor12878_SNV_20070510.chr7_11380946	rev/B	C/T	aatcttgttattttcctatcgttattcttt	gtgaatttaaatagtattttaagtatcata	10/17/07	10/20/07	129	Genomic	unknown
ss93628250	BCMHGSC_JDW\|JWB-2271188	rev/B	C/T	aatcttgttattttcctatcgttattcttt	gtgaatttaaatagtattttaagtatcata	02/26/08	03/04/08	129	Genomic	unknown
ss98132698	HUMANGENOME_JCVI\|1103652498977	rev/B	C/T	aatcttgttattttcctatcgttattcttt	gtgaatttaaatagtattttaagtatcata	03/31/08	03/31/08	130	Genomic	unknown
ss105492539	BGI\|BGI_rs70	rev/B	C/T	aatcttgttattttcctatcgttattcttt	gtgaatttaaatagtattttaagtatcata	09/10/08	06/17/09	130	Genomic	unknown
ss111512756	1000GENOMES\|CEU.trio.12.15.2008_1700527_chr7_11574231	rev/B	C/T	aatcttgttattttcctatcgttattcttt	gtgaatttaaatagtattttaagtatcata	12/15/08	12/17/08	130	Genomic	unknown
ss113308428	1000GENOMES\|NA19240_2008_12_16_1530076_chr7_11574231	rev/B	C/T	aatcttgttattttcctatcgttattcttt	gtgaatttaaatagtattttaagtatcata	12/18/08	12/18/08	130	Genomic	unknown
ss115929956	ILLUMINA-UK\|NA18507_000019195_NCBI36.1_chr7_11574231	rev/B	C/T	aatcttgttattttcctatcgttattcttt	gtgaatttaaatagtattttaagtatcata	01/16/09	01/16/09	130	Genomic	99 %

Fasta sequence (Legend)

 ACAGAGATAT GCAGAAGGTC AGCAGAGTGA AGAACTCCCC ATCCCACATA CGTTGCTGTG
 GGTTCTCTCA TTGTTTCTGT CCAGAGGAGA AAACAATCTG AAATGTCTGA GAACAGTGAA
 CTTAATAATA ATACAACAGA TAAGGACTAA AGTTGTTGAA TTGCAAATAA AGTTTTAACG
 AAAAGTAATT AGGTAATTAG TATGATACTT AAAATACTAT TTAAATTCAC
 R
 AAAGAATAAC GATAGGAAAA TAACAAGATT TTGAGTGACT ATAGTAGATT AGAAGTCAAC
 AAAAACATAA ATGTAAAAAG CATAGTGCTG AGATTAGAGT TCAAATAGGT GAGATAAAAT
 GTAAGGACTC ATTAATAGTA ATTACCAAAA AAATTAGGTG AGATAGTTTA AAATCTATAA
 GGAGAACATT TTTTAAGTAA AGGAAGAGCT TAAAGATTTG AGGGAGAGAA AAGGAAAAGA
 AGAGAACGAG ACTGGGAGAC GTGGAGTGAG CTAGGGTCAA AATATGCAAA ACTGGTCTGA
 CTTGTGGTGA ATCCCAAGTT GAGGTAACAG GGTCCATAT

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
NT_007819 ABBA01056562

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
ss3128794	TSC_42_AA		84	AF					0.920	0.080

	TSC_42_C		84	AF					0.800	0.200

	TSC_42_A		84	AF					0.830	0.170

	HapMap-CEU	European	116	IG	0.621	0.345	0.034	0.752	0.793	0.207

	HapMap-HCB	Asian	88	IG	0.455	0.477	0.068	0.439	0.693	0.307

	HapMap-JPT	Asian	88	IG	0.795	0.205		0.479	0.898	0.102

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.327+/-0.238	350	291	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 .