Reference SNP(refSNP) Cluster Report: rs528023

Reference SNP(refSNP) Cluster Report: rs528023

refSNP ID: rs528023
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	83/129
Map to Genome Build:	36.3

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

HGVS Names
NM_005929.4:c.1234-719G>C
NT_029928.12:g.1358118C>G

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss44367559 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs528023 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
ss698488	SC_JCM\|AC021072.8_80384	fwd/B	C/G	gtgggacaccttcctggggcacaggtgtcc	cactctcccccactgtcacactgtcatccc	07/27/00	10/10/03	83	Genomic	unknown
ss1101606	KWOK\|OVLP-000804-197575	fwd/B	C/G	gtgggacaccttcctggggcacaggtgtcc	cactctcccccactgtcacactgtcatccc	09/02/00	10/10/03	86	Genomic	99 %
ss1277975	KWOK\|OVLP-000804-195930	fwd/B	C/G	gtgggacaccttcctggggcacaggtgtcc	cactctcccccactgtcacactgtcatccc	09/02/00	10/10/03	86	Genomic	93 %
ss1689255	KWOK\|OVLP-000925-324732	rev/T	C/G	gggatgacagtgtgacagtgggggagagtg	ggacacctgtgccccaggaaggtgtcccac	10/05/00	10/10/03	87	Genomic	99 %
ss1690776	KWOK\|OVLP-000925-347402	fwd/B	C/G	gtgggacaccttcctggggcacaggtgtcc	cactctcccccactgtcacactgtcatccc	10/05/00	10/10/03	87	Genomic	99 %
ss1752081	KWOK\|OVLP-000925-342849	fwd/B	C/G	gtgggacaccttcctggggcacaggtgtcc	cactctcccccactgtcacactgtcatccc	10/05/00	10/10/03	87	Genomic	93 %
ss3295536	TSC-CSHL\|TSC1445313	fwd/B	C/G	tggggcacaggtgtcc	cactctcccccactgtcacactgtcatccc	09/20/01	10/10/03	100	Genomic	unknown
ss22003200	SSAHASNP\|WGSA-200403-chr3.chr3.NT_029928.11_1358118	rev/T	C/G	gggatgacagtgtgacagtgggggagagtg	ggacacctgtgccccaggaaggtgtcccac	03/20/04	03/20/04	121	Genomic	unknown
ss44367559	ABI\|hCV799609	rev/	C/G	gggatgacagtgtgacagtgggggagagtg	ggacacctgtgccccaggaaggtgtcccac	07/18/05	07/18/05	126	Genomic	unknown
ss80774894	HGSV\|Cor18507_SNV_20070510.chr3_198226694	rev/	C/G	gggatgacagtgtgacagtgggggagagtg	ggacacctgtgccccaggaaggtgtcccac	11/26/07	11/26/07	130	Genomic	unknown
ss83978269	HGSV\|Cor18956_SNV_20070510.chr3_198226694	rev/	C/G	gggatgacagtgtgacagtgggggagagtg	ggacacctgtgccccaggaaggtgtcccac	11/30/07	12/06/07	130	Genomic	unknown
ss84534553	HGSV\|Cor19240_SNV_20070510.chr3_198226694	rev/	C/G	gggatgacagtgtgacagtgggggagagtg	ggacacctgtgccccaggaaggtgtcccac	11/30/07	12/07/07	130	Genomic	unknown
ss92432060	BCMHGSC_JDW\|JWB-1722766	rev/	C/G	gggatgacagtgtgacagtgggggagagtg	ggacacctgtgccccaggaaggtgtcccac	02/26/08	03/03/08	129	Genomic	unknown

Fasta sequence (Legend)

 CCCTCAGTTC TAGCTTCTGA GGTTCTCAGA GAGGAGTCCA GTGTGGCTGT AACACCCATT
 CCTGCCCTGC CAGTTACCCA GGGAAGGGAC CATCAGCCAG AAGCGCCCTG GGCTGTGGTG
 CAGGGTCTGT GTCCTGCCCG ACAGCACAAT AGGAAGGGGG AGGTCTGAGT GGTGGAAAAA
 GGGCCCCGAG CTGTGCACCC TCCTGGCCCC AAATATCAAC GCCGCTGCCT GTTATTAACC
 GCCATCACTT CATGCCTCTT CAGGAATGGC GTGGGACACC TTCCTGGGGC ACAGGTGTCC
 S
 CACTCTCCCC CACTGTCACA CTGTCATCCC CTTCCCTTGA GGTTAATCAC ACTACTATGG
 CTCTGTTACC AGTTAGCCCC TTGGCGGGGT CCTGGGACCA CCTGTCAATA GGCTTCCGAA
 TGGACAAGCG GGGTGGGTGC AGGTGACCTG GAGGCCCCAG GAGGGTCCTG GGAAGAAGGC
 ACTGGACCCT CCCGCGCCTC CGCAGGCAGA GCTCCATCCC TCAGCCCTGA AGCCTCCTCC
 CCAGGCCCTG AGACTGCCAT CGTTTCAGAT CCGGTCATTC TTCCATCTGT ACACGCATTT

GeneView

GeneView via analysis of contig annotation: MFI2 antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5

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_029928->NM_005929

function

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


reference	NT_029928->NM_005929->NP_005920	1358118	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs528023 maps exactly once on NCBI human chromosome 3

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
3	NW_001838889.1	1070309	194038558	minus	G	alt_assembly_8	HuRef	HuRef	view	300
3	NW_921873.1	1006738	195325258	minus	G	alt_assembly_1	Celera	Celera	view	300
3	NT_029928.12	1358118	198222781	minus	C	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
NT_029928 AC009861 AC021072.8 AC021072.9 AC068302.10

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotypes	Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	HWP	C	G
ss3295536	CEPH		184	AF		1.000

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