Reference SNP(refSNP) Cluster Report: rs12302172

Reference SNP(refSNP) Cluster Report: rs12302172

refSNP ID: rs12302172
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/C
Ancestral Allele:	C
Clinical Association:	unknown

HGVS Names
NM_006479.3:c.68-761C>A
NT_009759.15:g.4506429C>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss18748502 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12302172 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
ss18748502	SC_SNP\|SC-CHR9-12_NA17119-200402.chr12.NT_009759.15_4506429		fwd/T	A/C	aaaatcctcaaataggagctactttctctt	cccccataatgcttatttcctctagcatgg	02/20/04	03/04/04	120	Genomic			unknown

Fasta sequence (Legend)

 CAGTCAAGAG TAGAACTACA ACAGTTCAGA GGATTGGTAA GACAGAAAAA CCTGTGAGAA
 ACAGTAATGG ACTGGAAAAG AACATCCTTT TGCAAGAAAA TAAGAAGTTA CTTTGGTAGG
 ATCTTAGGAA GATCATTATG GTAATGGAAA GAGAAAATAC TACTATTGTA AAAATCCTCA
 AATAGGAGCT ACTTTCTCTT
 M
 CCCCCATAAT GCTTATTTCC TCTAGCATGG TTAATGTACT AGGAATAGGT AATGGGCttt
 tttttctctt ttttttgaga cggagtctca ctcttgcacc taggctagag tgcaacagcg
 cgatcttggc tcactgcaac ctctgcctcc caggttcaag cgattctccc acctcacctc
 ctgagtagct gggattatag gtgtccgcca ccatgcctgg ctaatttttg tattttttag
 tagagacagg gtttcaccac tttggccagg ctggtcttga actcgtgact tcaggtgatc
 tgcccgcctt ggcctcccaa agtgctggga ttacaagtgt gagccactgt gcctggccCA
 AGTAATGGGC TTTGAAAAAA GATATTTGGC TACATTGTGA AGTTCCCATA AAAATAATTT
 ATTTCCACTT TTCAATGTGA TTAAATTCTA CCAATTTTTC TAATGGTTTT ACAGGTTTTT
 AATCATTTTT TCTTTGACAC

GeneView

GeneView via analysis of contig annotation: RAD51AP1 RAD51 associated protein 1

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_009759->NM_006479

function

HuRef

NW_001838049->NM_006479

function

Celera

NW_925295->NM_006479

function

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


reference	NT_009759->NM_006479->NP_006470	4506429	forward	intron

HuRef	NW_001838049->NM_006479->NP_006470	935821	reverse	intron

Celera	NW_925295->NM_006479->NP_006470	4477795	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs12302172 maps exactly once on NCBI human chromosome 12

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
12	NW_001838049.2	935821	4508854	minus	G	alt_assembly_8	HuRef	HuRef	view	200
12	NT_009759.15	4506429	4522429	plus	C	ref_assembly	reference	reference	view	200
12	NW_925295.1	4477795	6274213	plus	C	alt_assembly_1	Celera	Celera	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
NT_009759

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail		Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	HWP	C
ss18748502	HapMap-CEU	European	120	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	120	IG	1.000		1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
		270	210	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 .