Reference SNP(refSNP) Cluster Report: rs12976506

Reference SNP(refSNP) Cluster Report: rs12976506

refSNP ID: rs12976506
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	121/129
Map to Genome Build:	36.3

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

HGVS Names
NM_001040134.1:c.*1270A>G
NM_002579.2:c.*1270A>G
NT_011255.14:g.688084A>G

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss90878258 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12976506 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
ss21524129	SSAHASNP\|WGSA-200403-chr19.chr19.NT_011255.14_688084	fwd/T	A/G	cctcggcagggcaggtacaggggccacctc	gatgggagcctgggtccctgcctccgctct	03/20/04	03/20/04	121	Genomic	unknown
ss77234641	HGSV\|Cor12156_SNV_20070510.chr19_699084	fwd/T	A/G	cctcggcagggcaggtacaggggccacctc	gatgggagcctgggtccctgcctccgctct	10/09/07	10/12/07	129	Genomic	unknown
ss78125489	HGSV\|Cor12878_SNV_20070510.chr19_699084	fwd/T	A/G	cctcggcagggcaggtacaggggccacctc	gatgggagcctgggtccctgcctccgctct	10/17/07	10/18/07	129	Genomic	unknown
ss90878258	BCMHGSC_JDW\|JWB-1134771	fwd/T	A/G	cctcggcagggcaggtacaggggccacctc	gatgggagcctgggtccctgcctccgctct	02/26/08	03/01/08	129	Genomic	unknown

Fasta sequence (Legend)

 TGTGAGCCTG CCCCCAGCCC CCTCTCATTG GAAGTGGCAA GGGGCTTCCC TCCTGGGGGC
 AGCTACACTC GTCCCCAGAG GCACATTCGT GCACATTCTC ACAGACACCG TCTCACACGT
 TGGCTTTGGA CAACCAGGCC CCAACTTGGT CCCTGCCCTA GGGACCTCCA GCCTGGTGCC
 CAGTGCTCAG GCCACCTCCT GGTCCAGTCA CCACCTGCAG CCTCGGCAGG GCAGGTACAG
 GGGCCACCTC
 R
 GATGGGAGCC TGGGTCCCTG CCTCCGCTCT GCCCCTGGGT GGCTGGGAGG AGAGGCCCTC
 TCGGGGGTGA CCTGGGCGTC AGCCGTGGAA CCCCCTCCTC CTCCCTGGAG TCTGCCTGAG
 TCCCTCGAGC CGCGAGCCTT CGCTGAAGTG CCCTTGCTAT AACCCCCTCT GCTTCTGGTG
 TGTGACGAGG CCCCCGATGT TCTTGATTTT CCCAGAGAAG CAAATAAACA GCGTGAACAG
 CCCCAGTTCC

GeneView

GeneView via analysis of contig annotation: PALM paralemmin

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_001040134

function

reference

NT_011255->NM_002579

function

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


reference	NT_011255->NM_001040134->	688084	forward	2496	3' UTR

reference	NT_011255->NM_002579->	688084	forward	2628	3' UTR

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs12976506 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	68280	68280	minus	C	alt_assembly_1	Celera	Celera	view	200
19	NW_001838476.1	506947	517748	plus	G	alt_assembly_8	HuRef	HuRef	view	200
19	NT_011255.14	688084	699084	plus	A	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
NT_011255

dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):	GenBank STS:	GenBank mRNA:
NM_001040134.1 NM_002579.2	BV177167.1	BC019596.1 BC032449.1 D87460.1 Y14770.1

UniGene Cluster ID
78482

Population Diversity

There is no frequency data.

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 .