Reference SNP(refSNP) Cluster Report: rs4312

Reference SNP(refSNP) Cluster Report: rs4312

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/T
Ancestral Allele:	A
Clinical Association:	unknown

HGVS Names
NM_000789.2:c.1586+67G>A
NT_010783.14:g.20212997A>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss23142622 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4312 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
ss4701	DEBNICK\|dcp1-09191	fwd/B	A/T	tcacaccctcaatccacttctcctcctgtg	tcctagctgcctcatccccagggcttgtcc	05/03/99	12/23/03	36	Genomic	unknown
ss23142622	PARC\|ACE-008906	fwd/B	A/T	tcacaccctcaatccacttctcctcctgtg	tcctagctgcctcatccccagggcttgtcc	05/07/04	05/16/04	126	Genomic	unknown
ss69365646	PHARMGKB_PARC\|PS205301_PA141144424_8906	fwd/	A/T	tcacaccctcaatccacttctcctcctgtg	tcctagctgcctcatccccagggcttgtcc	03/22/07	08/14/07	127	Genomic	unknown
ss76875370	CGM_KYOTO\|717683	fwd/	A/T	tcacaccctcaatccacttctcctcctgtg	tcctagctgcctcatccccagggcttgtcc	09/12/07	09/12/07	129	cDNA	unknown
ss84149214	PHARMGKB_PARC\|PS206642_PA151793338_8906	fwd/	A/T	tcacaccctcaatccacttctcctcctgtg	tcctagctgcctcatccccagggcttgtcc	12/06/07	12/10/07	130	Genomic	unknown
ss86212066	RSG_UW\|ACE-008492	fwd/	A/T	tcacaccctcaatccacttctcctcctgtg	tcctagctgcctcatccccagggcttgtcc	12/12/07	08/11/08	129	Genomic	unknown

Fasta sequence (Legend)

 GTTGCCGGGT GGAAATGCCT TTTCTACAAA AGCTAAATCC ATCTGTTTGC AACCTCTAGG
 CCCTAAGACA ATTTAACCAT CCTTTTCCAG AACCAAGTAT CAGGGGATCT GTCCTCCTGT
 TACCCGAAAC GAAACCCACT TTGATGCTGG AGCTAAGTTT CATGTTCCAA ATGTGACACC
 ATACATCAGG TATTAGCGCC CCCACCCCAC CCACCCCCAG TACTGTCACA CCCTCAATCC
 ACTTCTCCTC CTGTG
 W
 TCCTAGCTGC CTCATCCCCA GGGCTTGTCC CCATGCTCCT CCAGACCTCA AAGGCCTGGA
 GTTAGAGTGG CCCACTCTCC TGAGCCTGTC TTGGGTCTCC CTTCTCCCCC AAGATAGCTT
 CTGGTCCAGC CTCTGCCCTG CAGGAAGCTG GATGGTGCCT GGGTAAGGAA CCCCTGTTCC
 TGGCCCCCCA TGATCTTCCC TGACTCCCAC CCTGTGCCTG CAGGTACTTT GTGAGTTTTG
 TCCTGCAGTT CCAGT

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_010783.14

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotypes	Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	HWP	A	T
ss23142622	PARC-EUROPEAN-PANEL	European	46	AF		0.913	0.087

ss69365646	PA141144427		946	AF		0.911	0.089

ss84149214	PA151793339		92	AF		0.880	0.120

ss86212066	NEWTON_CHEH_CLINICAL_PANEL		554	AF		0.926	0.074

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.156+/-0.232	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	YES

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Revised: May 25, 2006 1:38 PM .