Reference SNP(refSNP) Cluster Report: rs3787005

Reference SNP(refSNP) Cluster Report: rs3787005

refSNP ID: rs3787005
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	107/129
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_194460.1:c.75+4064C>T
NT_011255.14:g.598983G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss44186404 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3787005 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
ss4973374	YUSUKE\|IMS-JST143786	fwd/T	A/G	ggcagaccccagcgccagccggccagagag	gcagccgacatccacaggttcccggggtat	08/12/02	10/10/03	107	Genomic	unknown
ss20072326	CSHL-HAPMAP\|CSHL-HuFF-200402.chr19.NT_011255.14_598983	fwd/T	A/G	ggcagaccccagcgccagccggccagagag	gcagccgacatccacaggttcccggggtat	02/21/04	03/04/04	120	Genomic	unknown
ss44186404	ABI\|hCV2561873	rev/B	C/T	ataccccgggaacctgtggatgtcggctgc	ctctctggccggctggcgctggggtctgcc	07/18/05	07/18/05	126	Genomic	unknown
ss84317324	HGSV\|Cor18517_SNV_20070510.chr19_609983	fwd/T	A/G	ggcagaccccagcgccagccggccagagag	gcagccgacatccacaggttcccggggtat	12/06/07	12/07/07	130	Genomic	unknown

Fasta sequence (Legend)

 ACAAGCTGGA TGGACGAGGC GTGAGCGAAG CCACTGCCTC AGCCCAGGCT GGGGCCCCGC
 CTCACACCCC AGGGCGTGCC TCGGCCCAGG CCCCGAACTC TGCCTTCTTC TTCCCAGGTG
 GCTTCAGGCA CCACCACTAG GGACTGGAAC CCCACAGGTG CCCATCCGTG CCAGTGCCAG
 GGGTGCTACG GCTCGCCCGA GGCTCAGAGG AAGGTCCTCA TGGTGGCAGA GTTCTAAGTG
 GGAGGAAATT CAGCACCGGC ATCTGCCCGA GGCAGACCCC AGCGCCAGCC GGCCAGAGAG
 R
 GCAGCCGACA TCCACAGGTT CCCGGGGTAT TGCTGGTGCC CGATCACAAC GCCAGGCTCC
 ATGTTCACAG GGTGCTGCAG GGAGCCCGTT CCGGAGAACC CAGCTGTGCA GAGCCGCTCC
 AGGGTGCTGG CCGGACGCTT GAGAGGCAGG GGCAGGCTGT CACTGTCACG GTATCTGGCA
 CAACCGCAGA CACACAGAGC AAGCAGCGGC CAGAGACAGA CCCAGGCCGT CTTCTGAAGA
 CTCGGGCCAG GCCGCCGCAG GGACCAGGAG AAGACAGGGT GGGCCGGGGG GCAGCTGGGG

GeneView

GeneView via analysis of contig annotation: RNF126 ring finger protein 126

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_011255->NM_194460

function

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


reference	NT_011255->NM_194460->NP_919442	598983	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs3787005 maps exactly once on NCBI human chromosome 19

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
19	NW_927140.1	158572	158572	minus	C	alt_assembly_1	Celera	Celera	view	300
19	NW_001838476.1	418013	428814	plus	G	alt_assembly_8	HuRef	HuRef	view	300
19	NT_011255.14	598983	609983	plus	G	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
NT_011284.1

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotypes	Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	HWP	A	G
ss4973374	JBIC-allele		1310	AF		0.309	0.691

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.427+/-0.176	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 .